Incidental Mutation 'IGL03000:Gtf2ird2'
| ID |
407299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf2ird2
|
| Ensembl Gene |
ENSMUSG00000015942 |
| Gene Name |
GTF2I repeat domain containing 2 |
| Synonyms |
1700012P16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL03000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134223745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 93
(N93I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016086]
[ENSMUST00000123941]
|
| AlphaFold |
Q99NI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016086
AA Change: N93I
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: N93I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTF2I
|
104 |
178 |
6.1e-31 |
PFAM |
|
Pfam:GTF2I
|
328 |
402 |
1.6e-25 |
PFAM |
|
Blast:Tryp_SPc
|
436 |
491 |
4e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201098
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,360,959 (GRCm39) |
S445G |
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,208,640 (GRCm39) |
V226I |
probably benign |
Het |
| Ankrd34c |
A |
T |
9: 89,611,239 (GRCm39) |
D367E |
probably benign |
Het |
| Bmp6 |
G |
T |
13: 38,682,887 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
G |
16: 52,024,905 (GRCm39) |
D933E |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,489 (GRCm39) |
S95P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,985,115 (GRCm39) |
I1658V |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,781,347 (GRCm39) |
T478S |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,435 (GRCm39) |
F247L |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,242,724 (GRCm39) |
E29G |
probably damaging |
Het |
| Dctn3 |
T |
A |
4: 41,719,912 (GRCm39) |
I65F |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,969 (GRCm39) |
E743G |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,775,316 (GRCm39) |
T281N |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,709,924 (GRCm39) |
T307K |
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,449,292 (GRCm39) |
D1930G |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,782,564 (GRCm39) |
I334V |
probably benign |
Het |
| Ints1 |
G |
T |
5: 139,752,261 (GRCm39) |
N756K |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,693,635 (GRCm39) |
F404L |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,489,170 (GRCm39) |
R4590W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,699,355 (GRCm39) |
V134E |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,785,881 (GRCm39) |
V736A |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,602 (GRCm39) |
I226N |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,026 (GRCm39) |
K16* |
probably null |
Het |
| Mms22l |
G |
T |
4: 24,581,161 (GRCm39) |
V864L |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,487,963 (GRCm39) |
M320L |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,085,806 (GRCm39) |
P243S |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,912,048 (GRCm39) |
D1246E |
possibly damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,299 (GRCm39) |
T193A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,549,247 (GRCm39) |
|
probably benign |
Het |
| Or6k8-ps1 |
A |
G |
1: 173,979,126 (GRCm39) |
T15A |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,378,518 (GRCm39) |
F2008I |
probably damaging |
Het |
| Rhag |
A |
G |
17: 41,139,413 (GRCm39) |
K116R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,798,721 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
C |
A |
1: 125,502,479 (GRCm39) |
T277N |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,222,675 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,312,032 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,365 (GRCm39) |
S830P |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,122,476 (GRCm39) |
T112A |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,949,888 (GRCm39) |
V947A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,642,953 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,025,096 (GRCm39) |
V560D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,282,053 (GRCm39) |
E1856V |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,612,777 (GRCm39) |
M457V |
probably benign |
Het |
| Zfp711 |
C |
T |
X: 111,534,555 (GRCm39) |
Q137* |
probably null |
Het |
| Zkscan17 |
T |
C |
11: 59,377,986 (GRCm39) |
Y399C |
probably damaging |
Het |
| Zswim6 |
T |
G |
13: 107,863,649 (GRCm39) |
|
noncoding transcript |
Het |
| Zswim6 |
T |
A |
13: 107,863,650 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Gtf2ird2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Gtf2ird2
|
APN |
5 |
134,225,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01295:Gtf2ird2
|
APN |
5 |
134,221,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01603:Gtf2ird2
|
APN |
5 |
134,231,129 (GRCm39) |
splice site |
probably benign |
|
|
IGL01824:Gtf2ird2
|
APN |
5 |
134,226,123 (GRCm39) |
splice site |
probably benign |
|
|
IGL02469:Gtf2ird2
|
APN |
5 |
134,220,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02525:Gtf2ird2
|
APN |
5 |
134,245,319 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02567:Gtf2ird2
|
APN |
5 |
134,241,890 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02750:Gtf2ird2
|
APN |
5 |
134,245,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02992:Gtf2ird2
|
APN |
5 |
134,246,456 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03114:Gtf2ird2
|
APN |
5 |
134,245,752 (GRCm39) |
splice site |
probably null |
|
|
IGL03180:Gtf2ird2
|
APN |
5 |
134,220,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Gtf2ird2
|
UTSW |
5 |
134,242,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Gtf2ird2
|
UTSW |
5 |
134,245,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0100:Gtf2ird2
|
UTSW |
5 |
134,245,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0344:Gtf2ird2
|
UTSW |
5 |
134,220,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Gtf2ird2
|
UTSW |
5 |
134,240,083 (GRCm39) |
nonsense |
probably null |
|
|
R0570:Gtf2ird2
|
UTSW |
5 |
134,237,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0730:Gtf2ird2
|
UTSW |
5 |
134,221,597 (GRCm39) |
nonsense |
probably null |
|
|
R0826:Gtf2ird2
|
UTSW |
5 |
134,245,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1707:Gtf2ird2
|
UTSW |
5 |
134,245,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Gtf2ird2
|
UTSW |
5 |
134,240,081 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2064:Gtf2ird2
|
UTSW |
5 |
134,245,340 (GRCm39) |
nonsense |
probably null |
|
|
R2284:Gtf2ird2
|
UTSW |
5 |
134,246,025 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2375:Gtf2ird2
|
UTSW |
5 |
134,245,977 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3104:Gtf2ird2
|
UTSW |
5 |
134,237,756 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4436:Gtf2ird2
|
UTSW |
5 |
134,223,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4647:Gtf2ird2
|
UTSW |
5 |
134,245,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Gtf2ird2
|
UTSW |
5 |
134,245,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4775:Gtf2ird2
|
UTSW |
5 |
134,242,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4999:Gtf2ird2
|
UTSW |
5 |
134,246,306 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5011:Gtf2ird2
|
UTSW |
5 |
134,245,824 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5036:Gtf2ird2
|
UTSW |
5 |
134,246,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Gtf2ird2
|
UTSW |
5 |
134,245,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5379:Gtf2ird2
|
UTSW |
5 |
134,246,310 (GRCm39) |
missense |
probably benign |
|
|
R5921:Gtf2ird2
|
UTSW |
5 |
134,246,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Gtf2ird2
|
UTSW |
5 |
134,245,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6483:Gtf2ird2
|
UTSW |
5 |
134,240,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7355:Gtf2ird2
|
UTSW |
5 |
134,245,491 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7475:Gtf2ird2
|
UTSW |
5 |
134,230,267 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7566:Gtf2ird2
|
UTSW |
5 |
134,242,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Gtf2ird2
|
UTSW |
5 |
134,232,175 (GRCm39) |
missense |
probably benign |
|
|
R8701:Gtf2ird2
|
UTSW |
5 |
134,245,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Gtf2ird2
|
UTSW |
5 |
134,226,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8898:Gtf2ird2
|
UTSW |
5 |
134,226,106 (GRCm39) |
missense |
probably benign |
|
|
R8932:Gtf2ird2
|
UTSW |
5 |
134,237,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8946:Gtf2ird2
|
UTSW |
5 |
134,245,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Gtf2ird2
|
UTSW |
5 |
134,245,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9065:Gtf2ird2
|
UTSW |
5 |
134,225,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9288:Gtf2ird2
|
UTSW |
5 |
134,221,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9566:Gtf2ird2
|
UTSW |
5 |
134,246,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation