Incidental Mutation 'R5423:Iqgap1'
| ID |
426707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap1
|
| Ensembl Gene |
ENSMUSG00000030536 |
| Gene Name |
IQ motif containing GTPase activating protein 1 |
| Synonyms |
D7Ertd257e, D7Ertd237e |
| MMRRC Submission |
042989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80361331-80453288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80449610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 62
(E62V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167377]
[ENSMUST00000205304]
[ENSMUST00000205813]
|
| AlphaFold |
Q9JKF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167377
AA Change: E48V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128278
Gene: ENSMUSG00000030536
AA Change: E48V
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
46 |
155 |
2.02e-20 |
SMART |
|
internal_repeat_1
|
203 |
278 |
3.71e-8 |
PROSPERO |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
399 |
N/A |
INTRINSIC |
|
coiled coil region
|
488 |
515 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
608 |
684 |
3.71e-8 |
PROSPERO |
|
IQ
|
744 |
766 |
3.85e-3 |
SMART |
|
IQ
|
774 |
796 |
1.12e-4 |
SMART |
|
IQ
|
804 |
826 |
1.32e-1 |
SMART |
|
IQ
|
834 |
856 |
1.15e1 |
SMART |
|
coiled coil region
|
886 |
914 |
N/A |
INTRINSIC |
|
RasGAP
|
992 |
1345 |
7.46e-89 |
SMART |
|
Pfam:RasGAP_C
|
1452 |
1580 |
4.5e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205304
AA Change: E62V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205540
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205813
AA Change: E70V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206149
|
| Meta Mutation Damage Score |
0.3449 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| 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 four 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. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit a late-onset gastric hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,857,678 (GRCm39) |
I289T |
possibly damaging |
Het |
| Ak4 |
T |
G |
4: 101,317,760 (GRCm39) |
I110S |
probably damaging |
Het |
| Arhgap9 |
T |
G |
10: 127,165,418 (GRCm39) |
I609S |
probably damaging |
Het |
| Arid4a |
C |
A |
12: 71,116,634 (GRCm39) |
S242* |
probably null |
Het |
| Ceacam1 |
T |
G |
7: 25,173,951 (GRCm39) |
I235L |
probably benign |
Het |
| Chil3 |
T |
C |
3: 106,055,978 (GRCm39) |
D365G |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,667,212 (GRCm39) |
S216R |
probably benign |
Het |
| Cyp2e1 |
G |
T |
7: 140,350,031 (GRCm39) |
V239L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,397,431 (GRCm39) |
M3954K |
probably benign |
Het |
| Ercc6l2 |
A |
T |
13: 64,020,072 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
T |
C |
16: 22,202,404 (GRCm39) |
D468G |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,238,686 (GRCm39) |
I213F |
probably benign |
Het |
| Gm5084 |
A |
G |
13: 60,360,356 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr17 |
G |
A |
18: 32,080,694 (GRCm39) |
T123I |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,770,376 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
T |
G |
17: 35,484,883 (GRCm39) |
L248R |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,577,723 (GRCm39) |
I2013V |
probably damaging |
Het |
| Hp1bp3 |
A |
T |
4: 137,953,208 (GRCm39) |
D84V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,059 (GRCm39) |
F33S |
probably damaging |
Het |
| Inhbc |
C |
G |
10: 127,193,296 (GRCm39) |
C240S |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,126,151 (GRCm39) |
W295* |
probably null |
Het |
| Kdm4a |
C |
T |
4: 117,996,105 (GRCm39) |
A975T |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,931 (GRCm39) |
D412G |
possibly damaging |
Het |
| Midn |
A |
C |
10: 79,991,027 (GRCm39) |
I346L |
probably benign |
Het |
| Ndufa10 |
C |
T |
1: 92,390,042 (GRCm39) |
D259N |
probably benign |
Het |
| Nefh |
C |
A |
11: 4,890,985 (GRCm39) |
A545S |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,399,784 (GRCm39) |
Y2281C |
probably damaging |
Het |
| Psip1 |
G |
A |
4: 83,378,367 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,419,705 (GRCm39) |
A184S |
probably damaging |
Het |
| Rab37 |
T |
A |
11: 115,047,853 (GRCm39) |
I65K |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,844,561 (GRCm39) |
L247P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,620 (GRCm39) |
V295A |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,204,253 (GRCm39) |
|
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,881,087 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
T |
G |
4: 112,707,937 (GRCm39) |
D977A |
possibly damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,360,597 (GRCm39) |
V248M |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,690,188 (GRCm39) |
K188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,745,294 (GRCm39) |
D3008E |
possibly damaging |
Het |
| St18 |
A |
G |
1: 6,872,840 (GRCm39) |
S192G |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,616,746 (GRCm39) |
V306E |
probably damaging |
Het |
| T |
T |
C |
17: 8,660,597 (GRCm39) |
Y403H |
probably damaging |
Het |
| Tars3 |
C |
A |
7: 65,333,567 (GRCm39) |
N588K |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,640,907 (GRCm39) |
V1026A |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,774,506 (GRCm39) |
T193A |
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,470,506 (GRCm39) |
N326S |
probably damaging |
Het |
| Uggt2 |
G |
A |
14: 119,256,898 (GRCm39) |
T1112I |
probably damaging |
Het |
| Vasn |
C |
T |
16: 4,466,284 (GRCm39) |
P77L |
probably benign |
Het |
| Vps9d1 |
A |
C |
8: 123,974,704 (GRCm39) |
|
probably null |
Het |
| Washc4 |
C |
A |
10: 83,415,418 (GRCm39) |
Q803K |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,430 (GRCm39) |
T967I |
probably damaging |
Het |
| Zfp874a |
G |
A |
13: 67,590,473 (GRCm39) |
L404F |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 24,104,773 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Iqgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Iqgap1
|
APN |
7 |
80,409,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00984:Iqgap1
|
APN |
7 |
80,376,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01570:Iqgap1
|
APN |
7 |
80,372,809 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01738:Iqgap1
|
APN |
7 |
80,373,648 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02141:Iqgap1
|
APN |
7 |
80,387,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Iqgap1
|
APN |
7 |
80,402,041 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02416:Iqgap1
|
APN |
7 |
80,375,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Iqgap1
|
APN |
7 |
80,373,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Iqgap1
|
APN |
7 |
80,392,827 (GRCm39) |
missense |
probably benign |
|
|
IGL03157:Iqgap1
|
APN |
7 |
80,401,636 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03189:Iqgap1
|
APN |
7 |
80,363,590 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03216:Iqgap1
|
APN |
7 |
80,392,836 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0024:Iqgap1
|
UTSW |
7 |
80,401,687 (GRCm39) |
missense |
probably benign |
|
|
R0126:Iqgap1
|
UTSW |
7 |
80,388,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0144:Iqgap1
|
UTSW |
7 |
80,401,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Iqgap1
|
UTSW |
7 |
80,401,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0376:Iqgap1
|
UTSW |
7 |
80,373,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0650:Iqgap1
|
UTSW |
7 |
80,386,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Iqgap1
|
UTSW |
7 |
80,386,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Iqgap1
|
UTSW |
7 |
80,370,735 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0751:Iqgap1
|
UTSW |
7 |
80,375,321 (GRCm39) |
unclassified |
probably benign |
|
|
R1067:Iqgap1
|
UTSW |
7 |
80,373,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1389:Iqgap1
|
UTSW |
7 |
80,409,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1473:Iqgap1
|
UTSW |
7 |
80,383,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1613:Iqgap1
|
UTSW |
7 |
80,418,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Iqgap1
|
UTSW |
7 |
80,410,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Iqgap1
|
UTSW |
7 |
80,393,576 (GRCm39) |
missense |
probably benign |
|
|
R2062:Iqgap1
|
UTSW |
7 |
80,373,727 (GRCm39) |
nonsense |
probably null |
|
|
R2149:Iqgap1
|
UTSW |
7 |
80,412,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Iqgap1
|
UTSW |
7 |
80,409,651 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2153:Iqgap1
|
UTSW |
7 |
80,401,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3160:Iqgap1
|
UTSW |
7 |
80,402,086 (GRCm39) |
missense |
probably benign |
|
|
R3162:Iqgap1
|
UTSW |
7 |
80,402,086 (GRCm39) |
missense |
probably benign |
|
|
R3605:Iqgap1
|
UTSW |
7 |
80,373,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3709:Iqgap1
|
UTSW |
7 |
80,366,835 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3935:Iqgap1
|
UTSW |
7 |
80,393,585 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3979:Iqgap1
|
UTSW |
7 |
80,409,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4545:Iqgap1
|
UTSW |
7 |
80,412,315 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4787:Iqgap1
|
UTSW |
7 |
80,385,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4925:Iqgap1
|
UTSW |
7 |
80,415,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Iqgap1
|
UTSW |
7 |
80,373,524 (GRCm39) |
splice site |
probably null |
|
|
R5037:Iqgap1
|
UTSW |
7 |
80,383,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Iqgap1
|
UTSW |
7 |
80,392,816 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5183:Iqgap1
|
UTSW |
7 |
80,372,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Iqgap1
|
UTSW |
7 |
80,376,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5271:Iqgap1
|
UTSW |
7 |
80,383,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Iqgap1
|
UTSW |
7 |
80,388,472 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5359:Iqgap1
|
UTSW |
7 |
80,416,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5843:Iqgap1
|
UTSW |
7 |
80,375,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5849:Iqgap1
|
UTSW |
7 |
80,452,906 (GRCm39) |
missense |
probably benign |
|
|
R6164:Iqgap1
|
UTSW |
7 |
80,458,854 (GRCm39) |
missense |
unknown |
|
|
R6315:Iqgap1
|
UTSW |
7 |
80,449,638 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6335:Iqgap1
|
UTSW |
7 |
80,377,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Iqgap1
|
UTSW |
7 |
80,380,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6723:Iqgap1
|
UTSW |
7 |
80,373,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6800:Iqgap1
|
UTSW |
7 |
80,378,729 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6815:Iqgap1
|
UTSW |
7 |
80,416,632 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7240:Iqgap1
|
UTSW |
7 |
80,409,587 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7386:Iqgap1
|
UTSW |
7 |
80,375,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Iqgap1
|
UTSW |
7 |
80,370,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7410:Iqgap1
|
UTSW |
7 |
80,372,778 (GRCm39) |
nonsense |
probably null |
|
|
R7429:Iqgap1
|
UTSW |
7 |
80,401,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7452:Iqgap1
|
UTSW |
7 |
80,410,577 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7615:Iqgap1
|
UTSW |
7 |
80,401,094 (GRCm39) |
missense |
probably benign |
|
|
R7615:Iqgap1
|
UTSW |
7 |
80,379,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Iqgap1
|
UTSW |
7 |
80,407,204 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7783:Iqgap1
|
UTSW |
7 |
80,458,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7785:Iqgap1
|
UTSW |
7 |
80,387,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Iqgap1
|
UTSW |
7 |
80,393,636 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8270:Iqgap1
|
UTSW |
7 |
80,379,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Iqgap1
|
UTSW |
7 |
80,375,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Iqgap1
|
UTSW |
7 |
80,401,141 (GRCm39) |
missense |
probably benign |
|
|
R9520:Iqgap1
|
UTSW |
7 |
80,393,869 (GRCm39) |
missense |
probably benign |
|
|
R9533:Iqgap1
|
UTSW |
7 |
80,383,929 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9536:Iqgap1
|
UTSW |
7 |
80,458,840 (GRCm39) |
missense |
|
|
|
R9730:Iqgap1
|
UTSW |
7 |
80,401,124 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
RF004:Iqgap1
|
UTSW |
7 |
80,370,623 (GRCm39) |
missense |
probably benign |
|
|
RF063:Iqgap1
|
UTSW |
7 |
80,373,499 (GRCm39) |
frame shift |
probably null |
|
|
X0064:Iqgap1
|
UTSW |
7 |
80,370,679 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Iqgap1
|
UTSW |
7 |
80,416,651 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Iqgap1
|
UTSW |
7 |
80,418,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAAGTGTTCGACAGAGTG -3'
(R):5'- AGCCTGCCTTTCTAGGTGAC -3'
Sequencing Primer
(F):5'- CAGTTAGGAACACTTGCTGC -3'
(R):5'- ACTAGCAGCAATTTGATGGTGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation