Incidental Mutation 'R7327:Iqgap2'
| ID |
569009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
045420-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95627177-95891922 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95635655 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1339
(M1339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068603
AA Change: M1339L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: M1339L
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
43 |
152 |
3.32e-16 |
SMART |
|
coiled coil region
|
253 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
480 |
N/A |
INTRINSIC |
|
IQ
|
689 |
711 |
1.38e-4 |
SMART |
|
IQ
|
719 |
741 |
7.36e0 |
SMART |
|
IQ
|
749 |
771 |
2.43e1 |
SMART |
|
coiled coil region
|
799 |
828 |
N/A |
INTRINSIC |
|
RasGAP
|
905 |
1258 |
2.6e-120 |
SMART |
|
Pfam:RasGAP_C
|
1367 |
1498 |
3.2e-40 |
PFAM |
|
| Meta Mutation Damage Score |
0.1238 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,548,680 (GRCm38) |
T3I |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,987,077 (GRCm38) |
V717E |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 52,845,330 (GRCm38) |
T238A |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,360,541 (GRCm38) |
C120* |
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,041,532 (GRCm38) |
V1943D |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,225,647 (GRCm38) |
V141A |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,635,146 (GRCm38) |
|
probably null |
Het |
| Cgnl1 |
C |
A |
9: 71,725,883 (GRCm38) |
R62L |
possibly damaging |
Het |
| Chaf1a |
A |
G |
17: 56,062,573 (GRCm38) |
S522G |
probably benign |
Het |
| Cox19 |
A |
G |
5: 139,342,647 (GRCm38) |
F37S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,058,707 (GRCm38) |
S1894L |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,327,559 (GRCm38) |
R346W |
probably damaging |
Het |
| Dip2a |
A |
C |
10: 76,272,562 (GRCm38) |
C1315G |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,401,585 (GRCm38) |
W1961G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,201,405 (GRCm38) |
L1945P |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,819,778 (GRCm38) |
S92G |
probably damaging |
Het |
| Ep300 |
C |
T |
15: 81,627,314 (GRCm38) |
T865I |
unknown |
Het |
| Ercc6 |
A |
G |
14: 32,526,404 (GRCm38) |
E304G |
probably benign |
Het |
| Filip1l |
A |
C |
16: 57,570,937 (GRCm38) |
E629D |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 83,020,755 (GRCm38) |
T30I |
possibly damaging |
Het |
| Glb1 |
T |
C |
9: 114,417,058 (GRCm38) |
F59S |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,725,559 (GRCm38) |
L1177P |
probably benign |
Het |
| Gm16486 |
T |
A |
8: 70,716,804 (GRCm38) |
M1181K |
possibly damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,256,872 (GRCm38) |
T223A |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 85,518,052 (GRCm38) |
E325K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,603,814 (GRCm38) |
M4633K |
probably benign |
Het |
| Hoxc8 |
T |
A |
15: 102,991,110 (GRCm38) |
Y111N |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,729,015 (GRCm38) |
L726P |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,159,649 (GRCm38) |
Q901R |
possibly damaging |
Het |
| Krtap4-8 |
C |
A |
11: 99,780,408 (GRCm38) |
C79F |
unknown |
Het |
| Ldb3 |
T |
C |
14: 34,571,802 (GRCm38) |
N155S |
probably damaging |
Het |
| Mad2l1 |
T |
A |
6: 66,539,810 (GRCm38) |
V162E |
probably benign |
Het |
| Map7 |
T |
A |
10: 20,233,462 (GRCm38) |
V87E |
unknown |
Het |
| Mndal |
A |
T |
1: 173,875,619 (GRCm38) |
D73E |
unknown |
Het |
| Msantd1 |
T |
C |
5: 34,917,695 (GRCm38) |
S34P |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,611,553 (GRCm38) |
Q1838R |
possibly damaging |
Het |
| Myh15 |
G |
T |
16: 49,173,006 (GRCm38) |
R1668L |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,689,800 (GRCm38) |
M666T |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,116,686 (GRCm38) |
L944Q |
probably benign |
Het |
| Olfr197 |
A |
T |
16: 59,186,013 (GRCm38) |
F157I |
unknown |
Het |
| Orc1 |
A |
G |
4: 108,588,714 (GRCm38) |
T10A |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,174,465 (GRCm38) |
A42V |
possibly damaging |
Het |
| Pglyrp2 |
C |
T |
17: 32,415,919 (GRCm38) |
A490T |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,717,188 (GRCm38) |
C395* |
probably null |
Het |
| Ppp1r11 |
T |
C |
17: 36,951,008 (GRCm38) |
R12G |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,346,438 (GRCm38) |
D290G |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,680,101 (GRCm38) |
R1033S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,693,461 (GRCm38) |
L1220P |
possibly damaging |
Het |
| Rufy3 |
G |
A |
5: 88,642,952 (GRCm38) |
R504H |
probably damaging |
Het |
| Scgb2b21 |
C |
T |
7: 33,519,905 (GRCm38) |
V25I |
probably benign |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,548,489 (GRCm38) |
S11P |
possibly damaging |
Het |
| Slain2 |
A |
T |
5: 72,974,659 (GRCm38) |
T498S |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 105,955,715 (GRCm38) |
G121S |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,342,119 (GRCm38) |
I307F |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,773,545 (GRCm38) |
G800R |
unknown |
Het |
| Tnc |
G |
T |
4: 63,964,762 (GRCm38) |
|
probably null |
Het |
| Trav21-dv12 |
T |
C |
14: 53,876,057 (GRCm38) |
|
probably benign |
Het |
| Txk |
A |
T |
5: 72,715,883 (GRCm38) |
I228N |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 110,711,620 (GRCm38) |
Y622H |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Wdr35 |
T |
G |
12: 8,987,312 (GRCm38) |
M306R |
probably benign |
Het |
| Zan |
A |
T |
5: 137,465,232 (GRCm38) |
S562T |
probably benign |
Het |
|
| Other mutations in Iqgap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Iqgap2
|
APN |
13 |
95,657,944 (GRCm38) |
splice site |
probably benign |
|
|
IGL01968:Iqgap2
|
APN |
13 |
95,635,582 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02049:Iqgap2
|
APN |
13 |
95,675,405 (GRCm38) |
splice site |
probably benign |
|
|
IGL02195:Iqgap2
|
APN |
13 |
95,661,734 (GRCm38) |
splice site |
probably benign |
|
|
IGL02387:Iqgap2
|
APN |
13 |
95,689,701 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02634:Iqgap2
|
APN |
13 |
95,628,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02666:Iqgap2
|
APN |
13 |
95,628,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02685:Iqgap2
|
APN |
13 |
95,671,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02927:Iqgap2
|
APN |
13 |
95,724,676 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL02943:Iqgap2
|
APN |
13 |
95,661,735 (GRCm38) |
splice site |
probably benign |
|
|
IGL03167:Iqgap2
|
APN |
13 |
95,684,898 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL03169:Iqgap2
|
APN |
13 |
95,731,277 (GRCm38) |
splice site |
probably null |
|
|
IGL03293:Iqgap2
|
APN |
13 |
95,731,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Iqgap2
|
UTSW |
13 |
95,682,151 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0257:Iqgap2
|
UTSW |
13 |
95,724,544 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0335:Iqgap2
|
UTSW |
13 |
95,635,633 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0360:Iqgap2
|
UTSW |
13 |
95,731,275 (GRCm38) |
splice site |
probably benign |
|
|
R0364:Iqgap2
|
UTSW |
13 |
95,731,275 (GRCm38) |
splice site |
probably benign |
|
|
R0419:Iqgap2
|
UTSW |
13 |
95,689,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1229:Iqgap2
|
UTSW |
13 |
95,632,165 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1290:Iqgap2
|
UTSW |
13 |
95,668,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1397:Iqgap2
|
UTSW |
13 |
95,632,165 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1498:Iqgap2
|
UTSW |
13 |
95,646,805 (GRCm38) |
missense |
probably benign |
|
|
R1513:Iqgap2
|
UTSW |
13 |
95,630,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1630:Iqgap2
|
UTSW |
13 |
95,689,785 (GRCm38) |
missense |
probably benign |
|
|
R2088:Iqgap2
|
UTSW |
13 |
95,891,663 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2928:Iqgap2
|
UTSW |
13 |
95,682,236 (GRCm38) |
missense |
probably benign |
|
|
R3026:Iqgap2
|
UTSW |
13 |
95,673,056 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3720:Iqgap2
|
UTSW |
13 |
95,668,528 (GRCm38) |
splice site |
probably null |
|
|
R3846:Iqgap2
|
UTSW |
13 |
95,673,678 (GRCm38) |
splice site |
probably benign |
|
|
R4056:Iqgap2
|
UTSW |
13 |
95,750,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4077:Iqgap2
|
UTSW |
13 |
95,657,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4353:Iqgap2
|
UTSW |
13 |
95,671,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4517:Iqgap2
|
UTSW |
13 |
95,664,061 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4628:Iqgap2
|
UTSW |
13 |
95,763,329 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4686:Iqgap2
|
UTSW |
13 |
95,721,609 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4724:Iqgap2
|
UTSW |
13 |
95,635,497 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4826:Iqgap2
|
UTSW |
13 |
95,763,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4847:Iqgap2
|
UTSW |
13 |
95,673,743 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4967:Iqgap2
|
UTSW |
13 |
95,630,006 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4973:Iqgap2
|
UTSW |
13 |
95,657,797 (GRCm38) |
splice site |
probably null |
|
|
R5010:Iqgap2
|
UTSW |
13 |
95,673,743 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5086:Iqgap2
|
UTSW |
13 |
95,635,580 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5496:Iqgap2
|
UTSW |
13 |
95,630,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5512:Iqgap2
|
UTSW |
13 |
95,675,376 (GRCm38) |
nonsense |
probably null |
|
|
R5629:Iqgap2
|
UTSW |
13 |
95,632,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5824:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5830:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5831:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5832:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5833:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5834:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5852:Iqgap2
|
UTSW |
13 |
95,675,372 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5888:Iqgap2
|
UTSW |
13 |
95,635,610 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5889:Iqgap2
|
UTSW |
13 |
95,632,042 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6093:Iqgap2
|
UTSW |
13 |
95,628,963 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6141:Iqgap2
|
UTSW |
13 |
95,721,686 (GRCm38) |
splice site |
probably null |
|
|
R6404:Iqgap2
|
UTSW |
13 |
95,729,477 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6434:Iqgap2
|
UTSW |
13 |
95,682,933 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6648:Iqgap2
|
UTSW |
13 |
95,682,211 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6658:Iqgap2
|
UTSW |
13 |
95,660,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6903:Iqgap2
|
UTSW |
13 |
95,661,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7223:Iqgap2
|
UTSW |
13 |
95,628,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7371:Iqgap2
|
UTSW |
13 |
95,700,338 (GRCm38) |
splice site |
probably null |
|
|
R7378:Iqgap2
|
UTSW |
13 |
95,732,890 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7441:Iqgap2
|
UTSW |
13 |
95,628,076 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7575:Iqgap2
|
UTSW |
13 |
95,661,623 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7671:Iqgap2
|
UTSW |
13 |
95,628,119 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7713:Iqgap2
|
UTSW |
13 |
95,731,444 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7806:Iqgap2
|
UTSW |
13 |
95,682,257 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7893:Iqgap2
|
UTSW |
13 |
95,689,709 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8052:Iqgap2
|
UTSW |
13 |
95,657,879 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8121:Iqgap2
|
UTSW |
13 |
95,724,568 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8261:Iqgap2
|
UTSW |
13 |
95,635,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8301:Iqgap2
|
UTSW |
13 |
95,682,151 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8369:Iqgap2
|
UTSW |
13 |
95,661,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8485:Iqgap2
|
UTSW |
13 |
95,660,151 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8709:Iqgap2
|
UTSW |
13 |
95,660,205 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8710:Iqgap2
|
UTSW |
13 |
95,660,248 (GRCm38) |
missense |
probably benign |
0.24 |
|
R8737:Iqgap2
|
UTSW |
13 |
95,665,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8845:Iqgap2
|
UTSW |
13 |
95,657,884 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8902:Iqgap2
|
UTSW |
13 |
95,682,203 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8957:Iqgap2
|
UTSW |
13 |
95,635,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9153:Iqgap2
|
UTSW |
13 |
95,708,039 (GRCm38) |
missense |
probably benign |
|
|
R9259:Iqgap2
|
UTSW |
13 |
95,630,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9290:Iqgap2
|
UTSW |
13 |
95,750,015 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9414:Iqgap2
|
UTSW |
13 |
95,646,841 (GRCm38) |
missense |
|
|
|
R9432:Iqgap2
|
UTSW |
13 |
95,637,753 (GRCm38) |
missense |
probably benign |
|
|
R9747:Iqgap2
|
UTSW |
13 |
95,684,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0066:Iqgap2
|
UTSW |
13 |
95,671,383 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Iqgap2
|
UTSW |
13 |
95,731,443 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACACCTTGGCAATCTCG -3'
(R):5'- CTTTGGCCAAATTAGGTCCAG -3'
Sequencing Primer
(F):5'- CACCTTGGCAATCTCGTTGAGAATG -3'
(R):5'- GGCCAAATTAGGTCCAGTATTACATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation