Incidental Mutation 'R8710:Iqgap2'
| ID |
669524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
068564-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 95796756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 1133
(N1133H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068603
AA Change: N1133H
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: N1133H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (68/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,495 (GRCm39) |
N1126S |
probably damaging |
Het |
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Agpat5 |
T |
A |
8: 18,928,105 (GRCm39) |
D223E |
possibly damaging |
Het |
| Anks3 |
A |
C |
16: 4,775,976 (GRCm39) |
Y75* |
probably null |
Het |
| Ano5 |
T |
G |
7: 51,243,419 (GRCm39) |
D847E |
probably damaging |
Het |
| Asb6 |
G |
T |
2: 30,717,072 (GRCm39) |
T51K |
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,174,953 (GRCm39) |
E1702G |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,767,925 (GRCm39) |
M294V |
probably benign |
Het |
| Cadm1 |
T |
A |
9: 47,759,466 (GRCm39) |
D392E |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,421,277 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
A |
G |
11: 114,785,501 (GRCm39) |
T149A |
probably benign |
Het |
| Cd69 |
A |
T |
6: 129,246,573 (GRCm39) |
W153R |
possibly damaging |
Het |
| Cdc25c |
T |
A |
18: 34,882,666 (GRCm39) |
|
probably benign |
Het |
| Clnk |
A |
C |
5: 38,931,940 (GRCm39) |
C40W |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,821 (GRCm39) |
L180Q |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,436,523 (GRCm39) |
N271S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,517,876 (GRCm39) |
I2070T |
probably benign |
Het |
| Dnah17 |
A |
C |
11: 117,932,973 (GRCm39) |
L3595R |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,245,495 (GRCm39) |
Y211C |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,902,849 (GRCm39) |
I167T |
probably benign |
Het |
| Elavl3 |
A |
T |
9: 21,937,849 (GRCm39) |
Y148N |
probably damaging |
Het |
| Ermardl2 |
A |
T |
17: 15,209,194 (GRCm39) |
N342I |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,671,642 (GRCm39) |
S598P |
probably benign |
Het |
| Gm38119 |
ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA |
ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA |
3: 92,645,197 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
G |
10: 119,941,872 (GRCm39) |
L272P |
probably damaging |
Het |
| Iars2 |
A |
C |
1: 185,027,783 (GRCm39) |
V715G |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,139,880 (GRCm39) |
M43K |
probably damaging |
Het |
| Krtap7-1 |
T |
A |
16: 89,305,008 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Lag3 |
G |
A |
6: 124,885,408 (GRCm39) |
T324I |
probably damaging |
Het |
| Mapkapk2 |
C |
A |
1: 130,986,448 (GRCm39) |
A97S |
possibly damaging |
Het |
| Mettl4 |
A |
G |
17: 95,041,072 (GRCm39) |
S361P |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,143,158 (GRCm39) |
T1029A |
probably benign |
Het |
| Nsl1 |
C |
A |
1: 190,795,420 (GRCm39) |
A62D |
probably benign |
Het |
| Oas1e |
T |
A |
5: 120,930,027 (GRCm39) |
K164* |
probably null |
Het |
| Obsl1 |
A |
G |
1: 75,469,326 (GRCm39) |
F1205S |
probably benign |
Het |
| Or14j2 |
G |
T |
17: 37,885,540 (GRCm39) |
A258E |
probably benign |
Het |
| Or1e1b-ps1 |
G |
A |
11: 73,845,694 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or8c15 |
C |
T |
9: 38,121,066 (GRCm39) |
A237V |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,306 (GRCm39) |
Y138F |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,183,232 (GRCm39) |
F334S |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,255,155 (GRCm39) |
E325G |
possibly damaging |
Het |
| Plekha8 |
A |
G |
6: 54,599,245 (GRCm39) |
T215A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,411,919 (GRCm39) |
R1816G |
possibly damaging |
Het |
| Ralgps1 |
G |
A |
2: 33,035,433 (GRCm39) |
L472F |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,601,501 (GRCm39) |
T607A |
probably damaging |
Het |
| Rnf214 |
T |
A |
9: 45,778,748 (GRCm39) |
|
probably benign |
Het |
| Rtca |
A |
T |
3: 116,291,303 (GRCm39) |
Y226N |
probably benign |
Het |
| Sash1 |
T |
A |
10: 8,656,285 (GRCm39) |
N236Y |
possibly damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,951 (GRCm39) |
I100V |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,483,787 (GRCm39) |
S948R |
unknown |
Het |
| Slc25a13 |
A |
T |
6: 6,114,238 (GRCm39) |
Y279N |
probably benign |
Het |
| Slc5a2 |
T |
C |
7: 127,864,966 (GRCm39) |
L33P |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,198,828 (GRCm39) |
V279E |
probably benign |
Het |
| Ssh3 |
G |
T |
19: 4,313,833 (GRCm39) |
H475Q |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,351,743 (GRCm39) |
S107P |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,072,796 (GRCm39) |
E1166G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,577,940 (GRCm39) |
L89P |
possibly damaging |
Het |
| Tmc4 |
G |
T |
7: 3,678,463 (GRCm39) |
T123N |
probably benign |
Het |
| Tmem139 |
A |
G |
6: 42,241,021 (GRCm39) |
D202G |
probably damaging |
Het |
| Trim35 |
T |
C |
14: 66,545,367 (GRCm39) |
S313P |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,540,021 (GRCm39) |
I154T |
probably damaging |
Het |
| Ttc9c |
T |
C |
19: 8,795,860 (GRCm39) |
T60A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,030,349 (GRCm39) |
N2386K |
probably damaging |
Het |
| Wdpcp |
C |
A |
11: 21,610,924 (GRCm39) |
Q49K |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,884,285 (GRCm39) |
Y867F |
|
Het |
| Zfp423 |
C |
T |
8: 88,507,549 (GRCm39) |
E932K |
possibly damaging |
Het |
| Zfp592 |
T |
C |
7: 80,673,321 (GRCm39) |
F95S |
probably damaging |
Het |
| Zfp644 |
T |
G |
5: 106,782,997 (GRCm39) |
N1095H |
probably damaging |
Het |
| Zfp983 |
A |
T |
17: 21,880,234 (GRCm39) |
N54I |
probably damaging |
Het |
|
| Other mutations in Iqgap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Iqgap2
|
APN |
13 |
95,794,452 (GRCm39) |
splice site |
probably benign |
|
|
IGL01968:Iqgap2
|
APN |
13 |
95,772,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02049:Iqgap2
|
APN |
13 |
95,811,913 (GRCm39) |
splice site |
probably benign |
|
|
IGL02195:Iqgap2
|
APN |
13 |
95,798,242 (GRCm39) |
splice site |
probably benign |
|
|
IGL02387:Iqgap2
|
APN |
13 |
95,826,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02634:Iqgap2
|
APN |
13 |
95,764,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Iqgap2
|
APN |
13 |
95,764,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Iqgap2
|
APN |
13 |
95,807,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Iqgap2
|
APN |
13 |
95,861,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02943:Iqgap2
|
APN |
13 |
95,798,243 (GRCm39) |
splice site |
probably benign |
|
|
IGL03167:Iqgap2
|
APN |
13 |
95,821,406 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03169:Iqgap2
|
APN |
13 |
95,867,785 (GRCm39) |
splice site |
probably null |
|
|
IGL03293:Iqgap2
|
APN |
13 |
95,867,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Iqgap2
|
UTSW |
13 |
95,818,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0257:Iqgap2
|
UTSW |
13 |
95,861,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0335:Iqgap2
|
UTSW |
13 |
95,772,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0360:Iqgap2
|
UTSW |
13 |
95,867,783 (GRCm39) |
splice site |
probably benign |
|
|
R0364:Iqgap2
|
UTSW |
13 |
95,867,783 (GRCm39) |
splice site |
probably benign |
|
|
R0419:Iqgap2
|
UTSW |
13 |
95,826,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1229:Iqgap2
|
UTSW |
13 |
95,768,673 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1290:Iqgap2
|
UTSW |
13 |
95,805,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Iqgap2
|
UTSW |
13 |
95,768,673 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1498:Iqgap2
|
UTSW |
13 |
95,783,313 (GRCm39) |
missense |
probably benign |
|
|
R1513:Iqgap2
|
UTSW |
13 |
95,766,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Iqgap2
|
UTSW |
13 |
95,826,293 (GRCm39) |
missense |
probably benign |
|
|
R2088:Iqgap2
|
UTSW |
13 |
96,028,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2928:Iqgap2
|
UTSW |
13 |
95,818,744 (GRCm39) |
missense |
probably benign |
|
|
R3026:Iqgap2
|
UTSW |
13 |
95,809,564 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3720:Iqgap2
|
UTSW |
13 |
95,805,036 (GRCm39) |
splice site |
probably null |
|
|
R3846:Iqgap2
|
UTSW |
13 |
95,810,186 (GRCm39) |
splice site |
probably benign |
|
|
R4056:Iqgap2
|
UTSW |
13 |
95,886,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Iqgap2
|
UTSW |
13 |
95,794,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Iqgap2
|
UTSW |
13 |
95,807,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Iqgap2
|
UTSW |
13 |
95,800,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4628:Iqgap2
|
UTSW |
13 |
95,899,837 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4686:Iqgap2
|
UTSW |
13 |
95,858,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4724:Iqgap2
|
UTSW |
13 |
95,772,005 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4826:Iqgap2
|
UTSW |
13 |
95,899,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Iqgap2
|
UTSW |
13 |
95,810,251 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4967:Iqgap2
|
UTSW |
13 |
95,766,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4973:Iqgap2
|
UTSW |
13 |
95,794,305 (GRCm39) |
splice site |
probably null |
|
|
R5010:Iqgap2
|
UTSW |
13 |
95,810,251 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5086:Iqgap2
|
UTSW |
13 |
95,772,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5496:Iqgap2
|
UTSW |
13 |
95,766,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Iqgap2
|
UTSW |
13 |
95,811,884 (GRCm39) |
nonsense |
probably null |
|
|
R5629:Iqgap2
|
UTSW |
13 |
95,768,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5830:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5831:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5832:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5833:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5834:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5852:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5888:Iqgap2
|
UTSW |
13 |
95,772,118 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5889:Iqgap2
|
UTSW |
13 |
95,768,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6093:Iqgap2
|
UTSW |
13 |
95,765,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6141:Iqgap2
|
UTSW |
13 |
95,858,194 (GRCm39) |
splice site |
probably null |
|
|
R6404:Iqgap2
|
UTSW |
13 |
95,865,985 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6434:Iqgap2
|
UTSW |
13 |
95,819,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6648:Iqgap2
|
UTSW |
13 |
95,818,719 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6658:Iqgap2
|
UTSW |
13 |
95,796,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6903:Iqgap2
|
UTSW |
13 |
95,797,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Iqgap2
|
UTSW |
13 |
95,765,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Iqgap2
|
UTSW |
13 |
95,772,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7371:Iqgap2
|
UTSW |
13 |
95,836,846 (GRCm39) |
splice site |
probably null |
|
|
R7378:Iqgap2
|
UTSW |
13 |
95,869,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7441:Iqgap2
|
UTSW |
13 |
95,764,584 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7575:Iqgap2
|
UTSW |
13 |
95,798,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7671:Iqgap2
|
UTSW |
13 |
95,764,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7713:Iqgap2
|
UTSW |
13 |
95,867,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7806:Iqgap2
|
UTSW |
13 |
95,818,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7893:Iqgap2
|
UTSW |
13 |
95,826,217 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8052:Iqgap2
|
UTSW |
13 |
95,794,387 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8121:Iqgap2
|
UTSW |
13 |
95,861,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8261:Iqgap2
|
UTSW |
13 |
95,772,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Iqgap2
|
UTSW |
13 |
95,818,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8369:Iqgap2
|
UTSW |
13 |
95,798,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Iqgap2
|
UTSW |
13 |
95,796,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8709:Iqgap2
|
UTSW |
13 |
95,796,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8737:Iqgap2
|
UTSW |
13 |
95,802,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Iqgap2
|
UTSW |
13 |
95,794,392 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8902:Iqgap2
|
UTSW |
13 |
95,818,711 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8957:Iqgap2
|
UTSW |
13 |
95,772,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9153:Iqgap2
|
UTSW |
13 |
95,844,547 (GRCm39) |
missense |
probably benign |
|
|
R9259:Iqgap2
|
UTSW |
13 |
95,766,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Iqgap2
|
UTSW |
13 |
95,886,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Iqgap2
|
UTSW |
13 |
95,783,349 (GRCm39) |
missense |
|
|
|
R9432:Iqgap2
|
UTSW |
13 |
95,774,261 (GRCm39) |
missense |
probably benign |
|
|
R9747:Iqgap2
|
UTSW |
13 |
95,821,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Iqgap2
|
UTSW |
13 |
95,807,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Iqgap2
|
UTSW |
13 |
95,867,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGACAGACTATCATTCTTGTC -3'
(R):5'- CACTCCTGCAGAAAATGGAAATG -3'
Sequencing Primer
(F):5'- GACAGACTATCATTCTTGTCTGTCC -3'
(R):5'- GCAGATTGTTGGAAATCTCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation