Incidental Mutation 'R5512:Iqgap2'
ID |
440130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqgap2
|
Ensembl Gene |
ENSMUSG00000021676 |
Gene Name |
IQ motif containing GTPase activating protein 2 |
Synonyms |
4933417J23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5512 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 95811884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 706
(Q706*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
AlphaFold |
Q3UQ44 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068603
AA Change: Q706*
|
SMART Domains |
Protein: ENSMUSP00000067685 Gene: ENSMUSG00000021676 AA Change: Q706*
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
G |
7: 130,952,389 (GRCm39) |
V364A |
possibly damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Adgre5 |
T |
C |
8: 84,455,715 (GRCm39) |
N198D |
probably benign |
Het |
Adgrf4 |
G |
T |
17: 42,978,176 (GRCm39) |
T389K |
probably benign |
Het |
Apc |
T |
A |
18: 34,443,962 (GRCm39) |
|
probably benign |
Het |
Appl2 |
T |
A |
10: 83,441,682 (GRCm39) |
I524F |
probably damaging |
Het |
Arhgef37 |
G |
A |
18: 61,632,845 (GRCm39) |
Q531* |
probably null |
Het |
Atp7b |
T |
C |
8: 22,502,755 (GRCm39) |
T694A |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,334,968 (GRCm39) |
I780F |
probably damaging |
Het |
Calcoco2 |
T |
C |
11: 95,994,162 (GRCm39) |
K95E |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,870 (GRCm39) |
D388G |
possibly damaging |
Het |
Ccdc150 |
A |
C |
1: 54,393,806 (GRCm39) |
E690A |
probably damaging |
Het |
Cdc73 |
G |
T |
1: 143,578,354 (GRCm39) |
D3E |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,370,165 (GRCm39) |
|
probably null |
Het |
Cep170b |
T |
C |
12: 112,699,919 (GRCm39) |
S143P |
possibly damaging |
Het |
Cherp |
T |
C |
8: 73,217,110 (GRCm39) |
I607V |
possibly damaging |
Het |
CN725425 |
T |
A |
15: 91,124,959 (GRCm39) |
H166Q |
probably benign |
Het |
Dcaf6 |
A |
G |
1: 165,227,404 (GRCm39) |
V241A |
possibly damaging |
Het |
Dot1l |
C |
T |
10: 80,624,825 (GRCm39) |
P881S |
possibly damaging |
Het |
Drgx |
A |
G |
14: 32,322,001 (GRCm39) |
H5R |
probably damaging |
Het |
Dsg1c |
A |
T |
18: 20,405,568 (GRCm39) |
N327I |
probably damaging |
Het |
Fbxw7 |
G |
A |
3: 84,862,216 (GRCm39) |
R182H |
probably damaging |
Het |
Fkbp1b |
A |
T |
12: 4,888,183 (GRCm39) |
V24E |
probably benign |
Het |
Fut11 |
T |
C |
14: 20,746,069 (GRCm39) |
S304P |
probably damaging |
Het |
Ggt1 |
C |
T |
10: 75,420,718 (GRCm39) |
T361I |
probably damaging |
Het |
Gimap7 |
G |
T |
6: 48,700,530 (GRCm39) |
A39S |
probably benign |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm17541 |
G |
T |
12: 4,739,452 (GRCm39) |
|
probably benign |
Het |
Gmip |
T |
A |
8: 70,270,540 (GRCm39) |
V750E |
probably benign |
Het |
Gna14 |
A |
G |
19: 16,585,492 (GRCm39) |
E290G |
probably benign |
Het |
Gpnmb |
T |
C |
6: 49,022,398 (GRCm39) |
V176A |
possibly damaging |
Het |
Hhla1 |
T |
C |
15: 65,795,865 (GRCm39) |
K447R |
probably benign |
Het |
Hsd3b1 |
A |
G |
3: 98,760,521 (GRCm39) |
Y157H |
probably benign |
Het |
Krt222 |
A |
C |
11: 99,125,781 (GRCm39) |
S283R |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,526 (GRCm39) |
I536F |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,160,315 (GRCm39) |
D207G |
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Napsa |
A |
G |
7: 44,222,040 (GRCm39) |
M1V |
probably null |
Het |
Ncam1 |
A |
T |
9: 49,420,999 (GRCm39) |
|
probably null |
Het |
Nckap5 |
G |
A |
1: 125,955,481 (GRCm39) |
P425L |
possibly damaging |
Het |
Nol8 |
A |
G |
13: 49,830,263 (GRCm39) |
S1116G |
probably benign |
Het |
Nrde2 |
G |
T |
12: 100,108,509 (GRCm39) |
Q361K |
probably benign |
Het |
Nudt13 |
G |
A |
14: 20,357,800 (GRCm39) |
G133D |
probably damaging |
Het |
Ofcc1 |
G |
T |
13: 40,360,286 (GRCm39) |
Q248K |
probably benign |
Het |
Olfm4 |
A |
G |
14: 80,258,787 (GRCm39) |
D345G |
probably benign |
Het |
Or2t6 |
C |
A |
14: 14,175,633 (GRCm38) |
G150C |
probably damaging |
Het |
Or4k41 |
G |
A |
2: 111,280,099 (GRCm39) |
V205I |
probably benign |
Het |
Osbpl3 |
T |
G |
6: 50,286,340 (GRCm39) |
K659N |
probably damaging |
Het |
Pdk2 |
G |
A |
11: 94,930,292 (GRCm39) |
T48M |
probably damaging |
Het |
Phf11a |
A |
T |
14: 59,524,999 (GRCm39) |
D68E |
probably benign |
Het |
Purb |
A |
G |
11: 6,425,702 (GRCm39) |
V62A |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,557,805 (GRCm39) |
E1345K |
unknown |
Het |
Sema3e |
G |
A |
5: 14,280,194 (GRCm39) |
A358T |
probably damaging |
Het |
Slc29a2 |
A |
G |
19: 5,076,426 (GRCm39) |
I105V |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc6a5 |
G |
A |
7: 49,591,573 (GRCm39) |
V513I |
probably damaging |
Het |
Slco4a1 |
T |
A |
2: 180,115,907 (GRCm39) |
F681Y |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,339,445 (GRCm39) |
N775S |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,432,605 (GRCm39) |
V827D |
probably damaging |
Het |
Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
Tars2 |
A |
T |
3: 95,657,728 (GRCm39) |
C238S |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,645,517 (GRCm39) |
Y111N |
probably damaging |
Het |
Tnks1bp1 |
C |
A |
2: 84,893,178 (GRCm39) |
P373Q |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,575,045 (GRCm39) |
L373P |
probably damaging |
Het |
Unc45b |
A |
C |
11: 82,805,898 (GRCm39) |
D135A |
possibly damaging |
Het |
Vmn1r235 |
A |
T |
17: 21,481,677 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,657,149 (GRCm39) |
I85M |
probably damaging |
Het |
Vmn2r80 |
T |
G |
10: 79,004,066 (GRCm39) |
L93W |
probably benign |
Het |
Vwf |
G |
T |
6: 125,650,850 (GRCm39) |
|
probably benign |
Het |
Ythdf3 |
A |
G |
3: 16,238,086 (GRCm39) |
R9G |
probably damaging |
Het |
Zfp229 |
A |
G |
17: 21,964,017 (GRCm39) |
|
probably null |
Het |
Zfp958 |
A |
C |
8: 4,675,838 (GRCm39) |
|
probably null |
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 |
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 |
R8710:Iqgap2
|
UTSW |
13 |
95,796,756 (GRCm39) |
missense |
probably benign |
0.24 |
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'- GTCCCAGGACTAACTTGTAAGGC -3'
(R):5'- AAACTGGGTGCTAACCTGG -3'
Sequencing Primer
(F):5'- GTAAGGCTCACACATCTCTGG -3'
(R):5'- AACCTGGCCATTGGGTTC -3'
|
Posted On |
2016-11-08 |