Incidental Mutation 'R0826:Gtf2ird2'
| ID |
78220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2ird2
|
| Ensembl Gene |
ENSMUSG00000015942 |
| Gene Name |
GTF2I repeat domain containing 2 |
| Synonyms |
1700012P16Rik |
| MMRRC Submission |
039006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0826 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
134211629-134246988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134245797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 685
(F685S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016086]
[ENSMUST00000016094]
[ENSMUST00000111275]
[ENSMUST00000123941]
[ENSMUST00000144086]
[ENSMUST00000146354]
[ENSMUST00000152587]
|
| AlphaFold |
Q99NI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016086
AA Change: F685S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942
AA Change: F685S
| 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: ENSMUST00000016094
|
| SMART Domains |
Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
Pfam:p47_phox_C
|
332 |
403 |
1.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111275
|
| SMART Domains |
Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144086
|
| SMART Domains |
Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
low complexity region
|
336 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146354
|
| SMART Domains |
Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
4 |
121 |
2.14e-25 |
SMART |
|
SH3
|
159 |
214 |
2.17e-17 |
SMART |
|
SH3
|
229 |
284 |
1.02e-13 |
SMART |
|
Pfam:p47_phox_C
|
332 |
390 |
5.8e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152587
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 95.7%
- 20x: 86.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4931406C07Rik |
T |
C |
9: 15,203,292 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,916,811 (GRCm39) |
D727V |
possibly damaging |
Het |
| Anxa10 |
A |
C |
8: 62,529,318 (GRCm39) |
L133* |
probably null |
Het |
| Arfgef3 |
G |
A |
10: 18,465,414 (GRCm39) |
T2143I |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,950 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgef40 |
A |
G |
14: 52,238,450 (GRCm39) |
T1310A |
probably benign |
Het |
| Atg10 |
C |
T |
13: 91,084,705 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,492,169 (GRCm39) |
F569S |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,464,203 (GRCm39) |
W849R |
possibly damaging |
Het |
| Baz1a |
A |
T |
12: 54,977,097 (GRCm39) |
Y9* |
probably null |
Het |
| Catsperg2 |
C |
T |
7: 29,405,049 (GRCm39) |
D702N |
possibly damaging |
Het |
| Clasrp |
G |
T |
7: 19,318,226 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Col19a1 |
T |
C |
1: 24,565,467 (GRCm39) |
K288R |
unknown |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,405,177 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,025,864 (GRCm39) |
I828F |
probably benign |
Het |
| Dpf2 |
G |
T |
19: 5,957,155 (GRCm39) |
Q23K |
probably damaging |
Het |
| Dsc3 |
T |
A |
18: 20,114,229 (GRCm39) |
I342F |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,671,614 (GRCm39) |
L460P |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,380,090 (GRCm39) |
E871G |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,040,780 (GRCm39) |
|
probably null |
Het |
| Fam243 |
G |
A |
16: 92,118,075 (GRCm39) |
S71L |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,333,888 (GRCm39) |
S201T |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,882,646 (GRCm39) |
R49H |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,667,375 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,049 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kif21a |
A |
G |
15: 90,881,744 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
A |
1: 193,013,216 (GRCm39) |
C480* |
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,027,828 (GRCm39) |
S199P |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,059,676 (GRCm39) |
N183S |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,070,470 (GRCm39) |
|
probably benign |
Het |
| Mest |
C |
A |
6: 30,742,813 (GRCm39) |
H146Q |
probably damaging |
Het |
| Mmp27 |
T |
C |
9: 7,579,010 (GRCm39) |
V339A |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,426,285 (GRCm39) |
|
probably benign |
Het |
| Myoz1 |
C |
T |
14: 20,703,679 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,133 (GRCm39) |
M286V |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,893 (GRCm39) |
K69R |
probably benign |
Het |
| Or13c3 |
C |
T |
4: 52,855,566 (GRCm39) |
V316I |
probably benign |
Het |
| Or2y1c |
A |
T |
11: 49,361,158 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or4a77 |
A |
C |
2: 89,487,181 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or8g18 |
C |
T |
9: 39,149,725 (GRCm39) |
M1I |
probably null |
Het |
| Osbpl3 |
A |
T |
6: 50,323,357 (GRCm39) |
M242K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,624 (GRCm39) |
S64C |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,672 (GRCm39) |
S859P |
possibly damaging |
Het |
| Ppp1r12a |
G |
T |
10: 108,066,414 (GRCm39) |
A202S |
possibly damaging |
Het |
| Rab32 |
A |
T |
10: 10,426,611 (GRCm39) |
F112I |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,445,245 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
C |
T |
7: 125,891,007 (GRCm39) |
P147L |
probably damaging |
Het |
| Shpk |
T |
A |
11: 73,094,857 (GRCm39) |
M91K |
probably damaging |
Het |
| Slco6c1 |
C |
T |
1: 97,055,826 (GRCm39) |
S25N |
probably benign |
Het |
| Snx2 |
A |
T |
18: 53,327,594 (GRCm39) |
T107S |
probably benign |
Het |
| Tle2 |
G |
A |
10: 81,422,148 (GRCm39) |
V397I |
possibly damaging |
Het |
| Tmem131l |
T |
C |
3: 83,805,724 (GRCm39) |
D1573G |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,708 (GRCm39) |
|
probably benign |
Het |
| Tpmt |
T |
C |
13: 47,194,965 (GRCm39) |
E36G |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,032,688 (GRCm39) |
T257S |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,815,932 (GRCm39) |
L150P |
probably benign |
Het |
| Upf3a |
G |
C |
8: 13,848,338 (GRCm39) |
G378A |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,011,966 (GRCm39) |
K514* |
probably null |
Het |
| Zfp11 |
A |
G |
5: 129,734,589 (GRCm39) |
Y291H |
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,378 (GRCm39) |
D399G |
possibly damaging |
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 |
|
IGL03000:Gtf2ird2
|
APN |
5 |
134,223,745 (GRCm39) |
missense |
probably benign |
0.45 |
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-10-16 |
Incidental Mutation