Incidental Mutation 'R5112:Gtf2ird1'
| ID |
393922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2ird1
|
| Ensembl Gene |
ENSMUSG00000023079 |
| Gene Name |
general transcription factor II I repeat domain-containing 1 |
| Synonyms |
ESTM9, BEN, binding factor for early enhancer, MusTRD1, GTF3, Cream1, WBSCR11 |
| MMRRC Submission |
042700-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R5112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
134386510-134485570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134431038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 339
(D339E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073161]
[ENSMUST00000074114]
[ENSMUST00000100650]
[ENSMUST00000100652]
[ENSMUST00000100654]
[ENSMUST00000111244]
[ENSMUST00000111245]
[ENSMUST00000171794]
[ENSMUST00000167084]
[ENSMUST00000200944]
[ENSMUST00000202280]
[ENSMUST00000202554]
|
| AlphaFold |
Q9JI57 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073161
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072904
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.5e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
4.9e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
1.1e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
765 |
3.1e-34 |
PFAM |
|
Pfam:GTF2I
|
814 |
889 |
1.7e-34 |
PFAM |
|
Pfam:GTF2I
|
917 |
992 |
1.7e-34 |
PFAM |
|
low complexity region
|
1020 |
1043 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074114
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073752
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.4e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
4.5e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
1.1e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
765 |
2.8e-34 |
PFAM |
|
Pfam:GTF2I
|
814 |
889 |
1.6e-34 |
PFAM |
|
low complexity region
|
917 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100650
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098215
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.5e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
4.9e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
1.2e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
765 |
3.1e-34 |
PFAM |
|
Pfam:GTF2I
|
787 |
862 |
1.8e-34 |
PFAM |
|
Pfam:GTF2I
|
890 |
965 |
1.8e-34 |
PFAM |
|
low complexity region
|
993 |
1016 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100652
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098217
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
202 |
5.8e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
425 |
6.6e-32 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
639 |
2.3e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
764 |
3.3e-32 |
PFAM |
|
Pfam:GTF2I
|
814 |
888 |
3e-33 |
PFAM |
|
Pfam:GTF2I
|
917 |
991 |
3e-33 |
PFAM |
|
low complexity region
|
1020 |
1043 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100654
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098219
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.3e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
4.3e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
1e-34 |
PFAM |
|
Pfam:GTF2I
|
716 |
791 |
1.5e-34 |
PFAM |
|
Pfam:GTF2I
|
819 |
894 |
1.5e-34 |
PFAM |
|
low complexity region
|
922 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111244
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106875
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
202 |
4.3e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
425 |
4.9e-32 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
639 |
1.7e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
764 |
2.5e-32 |
PFAM |
|
Pfam:GTF2I
|
787 |
861 |
2.3e-33 |
PFAM |
|
Pfam:GTF2I
|
890 |
964 |
2.3e-33 |
PFAM |
|
low complexity region
|
993 |
1016 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111245
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106876
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.4e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
4.6e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
1.1e-34 |
PFAM |
|
Pfam:GTF2I
|
671 |
746 |
2.9e-34 |
PFAM |
|
Pfam:GTF2I
|
768 |
843 |
1.7e-34 |
PFAM |
|
Pfam:GTF2I
|
871 |
946 |
1.7e-34 |
PFAM |
|
low complexity region
|
974 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171794
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129392
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.2e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
3.8e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
8.9e-35 |
PFAM |
|
Pfam:GTF2I
|
690 |
765 |
2.4e-34 |
PFAM |
|
Pfam:GTF2I
|
787 |
862 |
1.4e-34 |
PFAM |
|
Pfam:GTF2I
|
890 |
965 |
1.4e-34 |
PFAM |
|
low complexity region
|
993 |
1016 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167084
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132882
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
203 |
1.3e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
426 |
4.3e-33 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
640 |
1e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
765 |
2.7e-34 |
PFAM |
|
Pfam:GTF2I
|
814 |
889 |
1.5e-34 |
PFAM |
|
low complexity region
|
917 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201704
AA Change: D126E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200944
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143848
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
202 |
4.9e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
425 |
5.6e-32 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
639 |
2e-34 |
PFAM |
|
Pfam:GTF2I
|
690 |
764 |
2.8e-32 |
PFAM |
|
Pfam:GTF2I
|
814 |
888 |
2.6e-33 |
PFAM |
|
low complexity region
|
917 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202202
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202280
AA Change: D339E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143897
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
202 |
2.6e-26 |
PFAM |
|
Pfam:GTF2I
|
351 |
425 |
2.9e-29 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
639 |
1e-31 |
PFAM |
|
Pfam:GTF2I
|
690 |
764 |
1.5e-29 |
PFAM |
|
Pfam:GTF2I
|
787 |
861 |
1.3e-30 |
PFAM |
|
low complexity region
|
890 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202554
AA Change: D339E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143809
Gene: ENSMUSG00000023079
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
128 |
202 |
5.5e-29 |
PFAM |
|
Pfam:GTF2I
|
351 |
425 |
6.3e-32 |
PFAM |
|
low complexity region
|
543 |
558 |
N/A |
INTRINSIC |
|
Pfam:GTF2I
|
565 |
639 |
2.2e-34 |
PFAM |
|
Pfam:GTF2I
|
671 |
745 |
3.2e-32 |
PFAM |
|
Pfam:GTF2I
|
768 |
842 |
2.9e-33 |
PFAM |
|
Pfam:GTF2I
|
871 |
945 |
2.9e-33 |
PFAM |
|
low complexity region
|
974 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202763
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have behavioral defects and exhibit a mild craniofacial defect withvariable penetrance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,328,383 (GRCm39) |
K846R |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,184,465 (GRCm39) |
M80K |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,136,502 (GRCm39) |
K358E |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,893 (GRCm39) |
D532E |
probably benign |
Het |
| Adamts19 |
C |
T |
18: 59,164,876 (GRCm39) |
R993* |
probably null |
Het |
| Akr1c13 |
A |
G |
13: 4,244,151 (GRCm39) |
K68R |
possibly damaging |
Het |
| Amer3 |
T |
A |
1: 34,626,157 (GRCm39) |
M132K |
possibly damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,326 (GRCm39) |
D38G |
possibly damaging |
Het |
| Ano7 |
G |
A |
1: 93,325,085 (GRCm39) |
V546M |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,349,254 (GRCm39) |
|
probably null |
Het |
| Apc |
T |
A |
18: 34,449,162 (GRCm39) |
C1985* |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,484,763 (GRCm39) |
S15F |
possibly damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,228,686 (GRCm39) |
N950K |
possibly damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,496 (GRCm39) |
V286A |
probably benign |
Het |
| Brox |
T |
A |
1: 183,073,541 (GRCm39) |
T79S |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,092,692 (GRCm39) |
I512F |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,158,511 (GRCm39) |
L542S |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Card10 |
C |
T |
15: 78,686,580 (GRCm39) |
|
probably null |
Het |
| Cd96 |
A |
G |
16: 45,919,301 (GRCm39) |
M240T |
probably benign |
Het |
| Cdc123 |
A |
G |
2: 5,809,748 (GRCm39) |
L221P |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,882,354 (GRCm39) |
V46A |
possibly damaging |
Het |
| Clcn3 |
G |
A |
8: 61,407,586 (GRCm39) |
H24Y |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,283,062 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
T |
12: 21,341,785 (GRCm39) |
M50L |
probably benign |
Het |
| Csf3 |
T |
A |
11: 98,593,749 (GRCm39) |
L197Q |
probably damaging |
Het |
| Ctsw |
T |
A |
19: 5,516,285 (GRCm39) |
D196V |
probably damaging |
Het |
| Dcun1d3 |
A |
T |
7: 119,457,250 (GRCm39) |
I154K |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 35,993,377 (GRCm39) |
T877A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,950,012 (GRCm39) |
L1944I |
probably benign |
Het |
| Dpf3 |
G |
T |
12: 83,417,385 (GRCm39) |
S29* |
probably null |
Het |
| Ephb1 |
A |
G |
9: 101,848,378 (GRCm39) |
I640T |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,477,319 (GRCm39) |
G2099S |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,454,906 (GRCm39) |
N667K |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gart |
A |
T |
16: 91,430,933 (GRCm39) |
D376E |
probably benign |
Het |
| Glyr1 |
G |
A |
16: 4,836,740 (GRCm39) |
Q475* |
probably null |
Het |
| Gm28051 |
G |
A |
12: 102,686,430 (GRCm39) |
Q77* |
probably null |
Het |
| Gnmt |
C |
A |
17: 47,037,256 (GRCm39) |
R176L |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,110,629 (GRCm39) |
V210D |
possibly damaging |
Het |
| Hmbox1 |
A |
G |
14: 65,063,061 (GRCm39) |
Y372H |
probably damaging |
Het |
| Ier2 |
G |
T |
8: 85,389,361 (GRCm39) |
A7E |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,634,691 (GRCm39) |
T311A |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,179 (GRCm39) |
|
probably null |
Het |
| Insl6 |
G |
A |
19: 29,298,996 (GRCm39) |
Q139* |
probably null |
Het |
| Itga2b |
A |
T |
11: 102,349,017 (GRCm39) |
I729K |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,135,489 (GRCm39) |
M1814K |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,166,703 (GRCm39) |
S429F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,725,865 (GRCm39) |
N129S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,132,678 (GRCm39) |
T28M |
probably benign |
Het |
| Ly86 |
G |
T |
13: 37,559,013 (GRCm39) |
G71C |
probably damaging |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,818 (GRCm39) |
S443G |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,229 (GRCm39) |
H376R |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myo7b |
T |
C |
18: 32,116,640 (GRCm39) |
H989R |
probably damaging |
Het |
| Neil2 |
A |
G |
14: 63,425,909 (GRCm39) |
W154R |
probably damaging |
Het |
| Nlrp12 |
G |
A |
7: 3,289,613 (GRCm39) |
H300Y |
possibly damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,439,554 (GRCm39) |
Y377F |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,008,952 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
T |
15: 44,240,039 (GRCm39) |
C500* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,180 (GRCm39) |
V26A |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,353 (GRCm39) |
V309A |
probably damaging |
Het |
| Or8g18 |
A |
G |
9: 39,149,717 (GRCm39) |
M1T |
probably null |
Het |
| Or8h9 |
A |
T |
2: 86,789,698 (GRCm39) |
Y35N |
probably damaging |
Het |
| Pabpc6 |
T |
A |
17: 9,888,540 (GRCm39) |
S4C |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,464 (GRCm39) |
R835* |
probably null |
Het |
| Parp9 |
G |
A |
16: 35,784,683 (GRCm39) |
V346I |
probably damaging |
Het |
| Pcbp4 |
C |
T |
9: 106,337,917 (GRCm39) |
T69M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,896 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
A |
T |
7: 24,324,110 (GRCm39) |
I495F |
possibly damaging |
Het |
| Plce1 |
G |
T |
19: 38,640,277 (GRCm39) |
V508F |
probably benign |
Het |
| Pmpca |
A |
T |
2: 26,285,178 (GRCm39) |
I468F |
probably damaging |
Het |
| Pmpcb |
G |
A |
5: 21,961,441 (GRCm39) |
R399H |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,022,037 (GRCm39) |
S544P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,326 (GRCm39) |
D1274E |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,733,010 (GRCm39) |
V612E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,366,982 (GRCm39) |
H639Q |
probably benign |
Het |
| Sell |
T |
A |
1: 163,892,887 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,226 (GRCm39) |
D347G |
probably benign |
Het |
| Sgip1 |
G |
A |
4: 102,726,966 (GRCm39) |
D81N |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,144 (GRCm39) |
I940F |
possibly damaging |
Het |
| Slc25a34 |
T |
A |
4: 141,348,769 (GRCm39) |
I232L |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,039,399 (GRCm39) |
K76N |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,225,087 (GRCm39) |
D58E |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
| Svep1 |
G |
A |
4: 58,068,610 (GRCm39) |
Q3059* |
probably null |
Het |
| Syce1l |
A |
C |
8: 114,378,274 (GRCm39) |
H56P |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,503 (GRCm39) |
V814A |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,597,740 (GRCm39) |
I265F |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,890,852 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
T |
C |
15: 83,380,597 (GRCm39) |
H256R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttyh2 |
A |
T |
11: 114,587,583 (GRCm39) |
T195S |
probably benign |
Het |
| Unc119b |
A |
G |
5: 115,263,553 (GRCm39) |
L217P |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,151,231 (GRCm39) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,425,714 (GRCm39) |
K152E |
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,941 (GRCm39) |
R486G |
probably benign |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,544 (GRCm39) |
Q400P |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,292 (GRCm39) |
V706D |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,422 (GRCm39) |
L388Q |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,383,208 (GRCm39) |
Y603F |
probably damaging |
Het |
| Zfp850 |
A |
T |
7: 27,689,658 (GRCm39) |
C183* |
probably null |
Het |
|
| Other mutations in Gtf2ird1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00558:Gtf2ird1
|
APN |
5 |
134,387,745 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02477:Gtf2ird1
|
APN |
5 |
134,408,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Gtf2ird1
|
APN |
5 |
134,405,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02752:Gtf2ird1
|
APN |
5 |
134,387,678 (GRCm39) |
makesense |
probably null |
|
|
IGL02963:Gtf2ird1
|
APN |
5 |
134,418,541 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03328:Gtf2ird1
|
APN |
5 |
134,417,983 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03379:Gtf2ird1
|
APN |
5 |
134,411,392 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0585:Gtf2ird1
|
UTSW |
5 |
134,405,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Gtf2ird1
|
UTSW |
5 |
134,439,918 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1388:Gtf2ird1
|
UTSW |
5 |
134,424,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Gtf2ird1
|
UTSW |
5 |
134,424,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1470:Gtf2ird1
|
UTSW |
5 |
134,424,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1544:Gtf2ird1
|
UTSW |
5 |
134,387,772 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1652:Gtf2ird1
|
UTSW |
5 |
134,424,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Gtf2ird1
|
UTSW |
5 |
134,395,790 (GRCm39) |
splice site |
probably null |
|
|
R1852:Gtf2ird1
|
UTSW |
5 |
134,411,434 (GRCm39) |
splice site |
probably null |
|
|
R1938:Gtf2ird1
|
UTSW |
5 |
134,444,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Gtf2ird1
|
UTSW |
5 |
134,405,740 (GRCm39) |
splice site |
probably benign |
|
|
R2020:Gtf2ird1
|
UTSW |
5 |
134,445,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Gtf2ird1
|
UTSW |
5 |
134,392,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Gtf2ird1
|
UTSW |
5 |
134,387,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Gtf2ird1
|
UTSW |
5 |
134,386,538 (GRCm39) |
splice site |
probably null |
|
|
R3421:Gtf2ird1
|
UTSW |
5 |
134,417,354 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4543:Gtf2ird1
|
UTSW |
5 |
134,392,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4569:Gtf2ird1
|
UTSW |
5 |
134,439,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Gtf2ird1
|
UTSW |
5 |
134,412,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Gtf2ird1
|
UTSW |
5 |
134,412,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Gtf2ird1
|
UTSW |
5 |
134,412,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4680:Gtf2ird1
|
UTSW |
5 |
134,386,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Gtf2ird1
|
UTSW |
5 |
134,433,588 (GRCm39) |
missense |
probably benign |
|
|
R4806:Gtf2ird1
|
UTSW |
5 |
134,412,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Gtf2ird1
|
UTSW |
5 |
134,424,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Gtf2ird1
|
UTSW |
5 |
134,391,398 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4970:Gtf2ird1
|
UTSW |
5 |
134,431,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Gtf2ird1
|
UTSW |
5 |
134,386,685 (GRCm39) |
nonsense |
probably null |
|
|
R4975:Gtf2ird1
|
UTSW |
5 |
134,424,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Gtf2ird1
|
UTSW |
5 |
134,419,787 (GRCm39) |
splice site |
probably null |
|
|
R5653:Gtf2ird1
|
UTSW |
5 |
134,439,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Gtf2ird1
|
UTSW |
5 |
134,392,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Gtf2ird1
|
UTSW |
5 |
134,412,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Gtf2ird1
|
UTSW |
5 |
134,439,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Gtf2ird1
|
UTSW |
5 |
134,433,544 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6580:Gtf2ird1
|
UTSW |
5 |
134,389,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Gtf2ird1
|
UTSW |
5 |
134,392,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6981:Gtf2ird1
|
UTSW |
5 |
134,412,776 (GRCm39) |
splice site |
probably benign |
|
|
R7208:Gtf2ird1
|
UTSW |
5 |
134,439,948 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7271:Gtf2ird1
|
UTSW |
5 |
134,433,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7517:Gtf2ird1
|
UTSW |
5 |
134,391,379 (GRCm39) |
missense |
probably benign |
|
|
R7786:Gtf2ird1
|
UTSW |
5 |
134,419,753 (GRCm39) |
nonsense |
probably null |
|
|
R7788:Gtf2ird1
|
UTSW |
5 |
134,445,985 (GRCm39) |
nonsense |
probably null |
|
|
R7850:Gtf2ird1
|
UTSW |
5 |
134,392,069 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7866:Gtf2ird1
|
UTSW |
5 |
134,392,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8183:Gtf2ird1
|
UTSW |
5 |
134,386,689 (GRCm39) |
missense |
unknown |
|
|
R8712:Gtf2ird1
|
UTSW |
5 |
134,444,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8844:Gtf2ird1
|
UTSW |
5 |
134,389,879 (GRCm39) |
nonsense |
probably null |
|
|
R9473:Gtf2ird1
|
UTSW |
5 |
134,433,534 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9669:Gtf2ird1
|
UTSW |
5 |
134,408,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9737:Gtf2ird1
|
UTSW |
5 |
134,408,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Gtf2ird1
|
UTSW |
5 |
134,404,956 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Gtf2ird1
|
UTSW |
5 |
134,438,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAAAGAATCTGCGAAGG -3'
(R):5'- ATCTCAAAGGGGCTGAGGTG -3'
Sequencing Primer
(F):5'- TCTGCGAAGGAAATATTGACACAAC -3'
(R):5'- GACTGTGAGTGGGAGGCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation