Incidental Mutation 'R3522:Iqgap3'
ID |
267517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqgap3
|
Ensembl Gene |
ENSMUSG00000028068 |
Gene Name |
IQ motif containing GTPase activating protein 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
R3522 (G1)
|
Quality Score |
219 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87989309-88028355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87998089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 282
(A282V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071812]
[ENSMUST00000195465]
|
AlphaFold |
F8VQ29 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071812
AA Change: A282V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071715 Gene: ENSMUSG00000028068 AA Change: A282V
Domain | Start | End | E-Value | Type |
CH
|
36 |
145 |
1.72e-14 |
SMART |
internal_repeat_2
|
197 |
249 |
1.75e-5 |
PROSPERO |
internal_repeat_1
|
209 |
418 |
1.31e-14 |
PROSPERO |
low complexity region
|
419 |
438 |
N/A |
INTRINSIC |
internal_repeat_1
|
446 |
651 |
1.31e-14 |
PROSPERO |
internal_repeat_2
|
600 |
652 |
1.75e-5 |
PROSPERO |
IQ
|
730 |
752 |
1.18e1 |
SMART |
IQ
|
760 |
782 |
3.76e-6 |
SMART |
IQ
|
790 |
812 |
3.08e-2 |
SMART |
IQ
|
820 |
842 |
1.72e0 |
SMART |
RasGAP
|
977 |
1330 |
1.74e-57 |
SMART |
Blast:RasGAP
|
1338 |
1422 |
1e-9 |
BLAST |
Pfam:RasGAP_C
|
1434 |
1555 |
2e-36 |
PFAM |
low complexity region
|
1591 |
1602 |
N/A |
INTRINSIC |
low complexity region
|
1615 |
1630 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193861
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193940
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195465
AA Change: A282V
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142013 Gene: ENSMUSG00000028068 AA Change: A282V
Domain | Start | End | E-Value | Type |
CH
|
36 |
145 |
8.5e-17 |
SMART |
internal_repeat_1
|
209 |
379 |
1.33e-7 |
PROSPERO |
low complexity region
|
419 |
438 |
N/A |
INTRINSIC |
internal_repeat_1
|
446 |
612 |
1.33e-7 |
PROSPERO |
|
Meta Mutation Damage Score |
0.2210 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
G |
3: 96,592,378 (GRCm39) |
E888G |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 15,004,918 (GRCm39) |
F150S |
probably damaging |
Het |
Atp10d |
G |
T |
5: 72,396,500 (GRCm39) |
R235L |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,653,055 (GRCm39) |
V2A |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,075,102 (GRCm39) |
L15Q |
probably benign |
Het |
Cavin3 |
C |
A |
7: 105,130,350 (GRCm39) |
G154V |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,821,830 (GRCm39) |
D593V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,168,647 (GRCm39) |
K161E |
probably damaging |
Het |
Chil4 |
A |
T |
3: 106,111,056 (GRCm39) |
N279K |
probably benign |
Het |
Chst13 |
T |
G |
6: 90,295,245 (GRCm39) |
D56A |
probably damaging |
Het |
Cnn1 |
C |
A |
9: 22,010,664 (GRCm39) |
H5N |
probably benign |
Het |
Cpsf4l |
T |
A |
11: 113,593,319 (GRCm39) |
K88N |
probably damaging |
Het |
Ctnnbl1 |
G |
T |
2: 157,713,113 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
C |
1: 53,657,275 (GRCm39) |
F834V |
probably damaging |
Het |
Fbxo41 |
A |
G |
6: 85,461,163 (GRCm39) |
S182P |
probably benign |
Het |
Fkbp5 |
T |
C |
17: 28,634,970 (GRCm39) |
T180A |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,334 (GRCm39) |
I2082N |
unknown |
Het |
Gm4968 |
A |
G |
6: 127,210,725 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 116,761,747 (GRCm39) |
H612Q |
probably benign |
Het |
Gsg1 |
A |
T |
6: 135,218,251 (GRCm39) |
V212D |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,651,430 (GRCm39) |
V1111A |
probably damaging |
Het |
Hormad1 |
A |
T |
3: 95,483,596 (GRCm39) |
Q136L |
probably benign |
Het |
Ifi35 |
T |
A |
11: 101,348,511 (GRCm39) |
S147R |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,754,624 (GRCm39) |
|
probably null |
Het |
Jmy |
T |
C |
13: 93,590,558 (GRCm39) |
D515G |
probably damaging |
Het |
Kctd10 |
G |
A |
5: 114,512,984 (GRCm39) |
R64C |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,040,757 (GRCm39) |
V121A |
probably damaging |
Het |
Lcn3 |
G |
A |
2: 25,656,133 (GRCm39) |
V63M |
possibly damaging |
Het |
Lmx1b |
T |
A |
2: 33,529,543 (GRCm39) |
Y72F |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,389,424 (GRCm39) |
D3164G |
probably damaging |
Het |
Mdh1b |
C |
T |
1: 63,758,927 (GRCm39) |
V222M |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,958,702 (GRCm39) |
|
probably benign |
Het |
Myo7b |
C |
A |
18: 32,143,132 (GRCm39) |
V189F |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,250,355 (GRCm39) |
S533P |
probably damaging |
Het |
Ndrg3 |
T |
C |
2: 156,785,947 (GRCm39) |
D164G |
probably damaging |
Het |
Nol11 |
C |
T |
11: 107,064,454 (GRCm39) |
C500Y |
possibly damaging |
Het |
Nsd3 |
A |
G |
8: 26,196,642 (GRCm39) |
N1208D |
probably benign |
Het |
Nup155 |
C |
T |
15: 8,186,162 (GRCm39) |
|
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,347 (GRCm39) |
C308S |
probably benign |
Het |
Or6c38 |
A |
G |
10: 128,929,711 (GRCm39) |
I44T |
possibly damaging |
Het |
Or8b47 |
A |
G |
9: 38,435,081 (GRCm39) |
T18A |
probably damaging |
Het |
Or8b54 |
A |
T |
9: 38,687,016 (GRCm39) |
D155V |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,844,684 (GRCm39) |
L1425P |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,279,250 (GRCm39) |
Y777H |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,085,396 (GRCm39) |
E184G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
T |
C |
3: 100,950,718 (GRCm39) |
E865G |
probably damaging |
Het |
Ptpn13 |
G |
T |
5: 103,737,720 (GRCm39) |
|
probably benign |
Het |
Pygb |
G |
T |
2: 150,670,473 (GRCm39) |
V763F |
probably benign |
Het |
Ros1 |
A |
C |
10: 51,967,091 (GRCm39) |
Y1705* |
probably null |
Het |
Sec61a2 |
A |
G |
2: 5,898,027 (GRCm39) |
F5L |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,614,102 (GRCm39) |
|
probably null |
Het |
Sntg2 |
A |
G |
12: 30,362,566 (GRCm39) |
V60A |
probably damaging |
Het |
Sppl2a |
A |
G |
2: 126,762,242 (GRCm39) |
C280R |
possibly damaging |
Het |
Srrm4 |
A |
C |
5: 116,584,603 (GRCm39) |
M1R |
probably null |
Het |
Sult1c2 |
T |
C |
17: 54,279,043 (GRCm39) |
E91G |
probably damaging |
Het |
Themis2 |
C |
G |
4: 132,512,906 (GRCm39) |
R440P |
probably damaging |
Het |
Tmem229a |
A |
G |
6: 24,955,058 (GRCm39) |
L232P |
probably benign |
Het |
Trappc1 |
T |
C |
11: 69,215,248 (GRCm39) |
F43L |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,951,708 (GRCm39) |
Y982N |
possibly damaging |
Het |
Trpv6 |
A |
T |
6: 41,604,339 (GRCm39) |
M139K |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,640,057 (GRCm39) |
|
probably null |
Het |
Vmn1r184 |
T |
A |
7: 25,967,008 (GRCm39) |
Y251* |
probably null |
Het |
Vmn1r216 |
A |
G |
13: 23,283,544 (GRCm39) |
N76D |
possibly damaging |
Het |
Vmn1r71 |
C |
A |
7: 10,481,792 (GRCm39) |
V233F |
probably benign |
Het |
Vps13a |
A |
C |
19: 16,743,857 (GRCm39) |
|
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,420,358 (GRCm39) |
S756G |
probably damaging |
Het |
Wdr36 |
T |
A |
18: 32,994,538 (GRCm39) |
|
probably null |
Het |
Wdr86 |
A |
G |
5: 24,923,305 (GRCm39) |
V129A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,576,940 (GRCm39) |
L47S |
probably benign |
Het |
|
Other mutations in Iqgap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01016:Iqgap3
|
APN |
3 |
88,014,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01062:Iqgap3
|
APN |
3 |
88,017,429 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01517:Iqgap3
|
APN |
3 |
88,016,703 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01530:Iqgap3
|
APN |
3 |
88,019,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01658:Iqgap3
|
APN |
3 |
88,023,278 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02027:Iqgap3
|
APN |
3 |
87,994,649 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02352:Iqgap3
|
APN |
3 |
88,009,267 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02359:Iqgap3
|
APN |
3 |
88,009,267 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02522:Iqgap3
|
APN |
3 |
88,015,705 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02717:Iqgap3
|
APN |
3 |
88,005,666 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02971:Iqgap3
|
APN |
3 |
87,997,611 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03079:Iqgap3
|
APN |
3 |
88,020,477 (GRCm39) |
missense |
probably benign |
|
IGL03240:Iqgap3
|
APN |
3 |
88,022,281 (GRCm39) |
missense |
probably benign |
0.00 |
adjutant
|
UTSW |
3 |
88,008,834 (GRCm39) |
missense |
possibly damaging |
0.51 |
Booster
|
UTSW |
3 |
88,020,435 (GRCm39) |
missense |
probably damaging |
0.99 |
peso_ligero
|
UTSW |
3 |
88,020,078 (GRCm39) |
frame shift |
probably null |
|
R0048:Iqgap3
|
UTSW |
3 |
88,023,256 (GRCm39) |
missense |
probably benign |
0.00 |
R0048:Iqgap3
|
UTSW |
3 |
88,023,256 (GRCm39) |
missense |
probably benign |
0.00 |
R0285:Iqgap3
|
UTSW |
3 |
88,004,297 (GRCm39) |
missense |
probably benign |
0.11 |
R0442:Iqgap3
|
UTSW |
3 |
88,023,266 (GRCm39) |
missense |
probably damaging |
0.96 |
R0490:Iqgap3
|
UTSW |
3 |
88,021,363 (GRCm39) |
splice site |
probably benign |
|
R0569:Iqgap3
|
UTSW |
3 |
87,998,032 (GRCm39) |
splice site |
probably benign |
|
R0747:Iqgap3
|
UTSW |
3 |
88,014,810 (GRCm39) |
splice site |
probably benign |
|
R0843:Iqgap3
|
UTSW |
3 |
88,015,738 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1260:Iqgap3
|
UTSW |
3 |
88,021,330 (GRCm39) |
missense |
probably benign |
|
R1465:Iqgap3
|
UTSW |
3 |
87,994,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R1465:Iqgap3
|
UTSW |
3 |
87,994,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R1544:Iqgap3
|
UTSW |
3 |
88,006,200 (GRCm39) |
missense |
probably benign |
0.00 |
R1662:Iqgap3
|
UTSW |
3 |
88,005,708 (GRCm39) |
missense |
probably benign |
0.33 |
R1686:Iqgap3
|
UTSW |
3 |
88,015,663 (GRCm39) |
splice site |
probably benign |
|
R1748:Iqgap3
|
UTSW |
3 |
88,021,287 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1836:Iqgap3
|
UTSW |
3 |
88,015,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1972:Iqgap3
|
UTSW |
3 |
87,991,235 (GRCm39) |
splice site |
probably null |
|
R1973:Iqgap3
|
UTSW |
3 |
87,991,235 (GRCm39) |
splice site |
probably null |
|
R2051:Iqgap3
|
UTSW |
3 |
88,027,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R2314:Iqgap3
|
UTSW |
3 |
88,023,338 (GRCm39) |
missense |
probably benign |
0.01 |
R2352:Iqgap3
|
UTSW |
3 |
88,011,815 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2857:Iqgap3
|
UTSW |
3 |
88,014,903 (GRCm39) |
nonsense |
probably null |
|
R2859:Iqgap3
|
UTSW |
3 |
88,014,903 (GRCm39) |
nonsense |
probably null |
|
R3435:Iqgap3
|
UTSW |
3 |
88,001,911 (GRCm39) |
missense |
probably benign |
0.00 |
R4281:Iqgap3
|
UTSW |
3 |
88,006,167 (GRCm39) |
missense |
probably benign |
0.19 |
R4283:Iqgap3
|
UTSW |
3 |
88,006,167 (GRCm39) |
missense |
probably benign |
0.19 |
R4397:Iqgap3
|
UTSW |
3 |
88,011,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R4414:Iqgap3
|
UTSW |
3 |
88,004,293 (GRCm39) |
missense |
probably benign |
|
R4660:Iqgap3
|
UTSW |
3 |
88,027,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Iqgap3
|
UTSW |
3 |
88,020,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R4883:Iqgap3
|
UTSW |
3 |
88,014,842 (GRCm39) |
missense |
probably benign |
|
R4915:Iqgap3
|
UTSW |
3 |
88,008,834 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5050:Iqgap3
|
UTSW |
3 |
87,997,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R5130:Iqgap3
|
UTSW |
3 |
88,016,161 (GRCm39) |
missense |
probably damaging |
0.97 |
R5151:Iqgap3
|
UTSW |
3 |
88,025,067 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5645:Iqgap3
|
UTSW |
3 |
88,025,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R5706:Iqgap3
|
UTSW |
3 |
88,023,215 (GRCm39) |
missense |
probably benign |
0.03 |
R5748:Iqgap3
|
UTSW |
3 |
88,016,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5880:Iqgap3
|
UTSW |
3 |
88,024,509 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5982:Iqgap3
|
UTSW |
3 |
87,998,899 (GRCm39) |
nonsense |
probably null |
|
R6006:Iqgap3
|
UTSW |
3 |
87,998,854 (GRCm39) |
missense |
probably damaging |
0.98 |
R6026:Iqgap3
|
UTSW |
3 |
87,997,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R6188:Iqgap3
|
UTSW |
3 |
88,006,200 (GRCm39) |
missense |
probably benign |
0.00 |
R6211:Iqgap3
|
UTSW |
3 |
87,998,822 (GRCm39) |
missense |
probably benign |
|
R6291:Iqgap3
|
UTSW |
3 |
87,997,037 (GRCm39) |
critical splice donor site |
probably null |
|
R6344:Iqgap3
|
UTSW |
3 |
87,989,401 (GRCm39) |
critical splice donor site |
probably null |
|
R6854:Iqgap3
|
UTSW |
3 |
88,004,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Iqgap3
|
UTSW |
3 |
88,020,078 (GRCm39) |
frame shift |
probably null |
|
R6877:Iqgap3
|
UTSW |
3 |
88,020,078 (GRCm39) |
frame shift |
probably null |
|
R6958:Iqgap3
|
UTSW |
3 |
88,020,673 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7008:Iqgap3
|
UTSW |
3 |
88,020,078 (GRCm39) |
frame shift |
probably null |
|
R7050:Iqgap3
|
UTSW |
3 |
88,006,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Iqgap3
|
UTSW |
3 |
88,024,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Iqgap3
|
UTSW |
3 |
88,009,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7288:Iqgap3
|
UTSW |
3 |
88,016,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R7952:Iqgap3
|
UTSW |
3 |
88,005,677 (GRCm39) |
missense |
probably benign |
|
R8008:Iqgap3
|
UTSW |
3 |
88,016,770 (GRCm39) |
missense |
probably damaging |
0.98 |
R8049:Iqgap3
|
UTSW |
3 |
88,011,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R8176:Iqgap3
|
UTSW |
3 |
88,001,957 (GRCm39) |
missense |
probably damaging |
0.96 |
R8190:Iqgap3
|
UTSW |
3 |
87,998,086 (GRCm39) |
missense |
probably damaging |
0.98 |
R8772:Iqgap3
|
UTSW |
3 |
87,997,144 (GRCm39) |
missense |
probably benign |
0.05 |
R8878:Iqgap3
|
UTSW |
3 |
88,020,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8893:Iqgap3
|
UTSW |
3 |
87,997,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Iqgap3
|
UTSW |
3 |
88,016,773 (GRCm39) |
missense |
|
|
R9072:Iqgap3
|
UTSW |
3 |
87,998,883 (GRCm39) |
missense |
probably benign |
|
R9073:Iqgap3
|
UTSW |
3 |
88,016,773 (GRCm39) |
missense |
|
|
R9337:Iqgap3
|
UTSW |
3 |
88,023,425 (GRCm39) |
critical splice donor site |
probably null |
|
R9489:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9593:Iqgap3
|
UTSW |
3 |
88,011,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R9655:Iqgap3
|
UTSW |
3 |
88,016,728 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9708:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9709:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9752:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9753:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9765:Iqgap3
|
UTSW |
3 |
88,017,361 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9771:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9772:Iqgap3
|
UTSW |
3 |
88,016,176 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Iqgap3
|
UTSW |
3 |
87,996,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCGACTGGCTTAATTGTTGG -3'
(R):5'- GGTAAGAACCTCTCTGCTGAG -3'
Sequencing Primer
(F):5'- TCCTCAGCAGGCTGGTCTTG -3'
(R):5'- TCTCTGCTGAGGCCAGAGAG -3'
|
Posted On |
2015-02-18 |