Incidental Mutation 'R5537:Iqsec3'
| ID |
434872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqsec3
|
| Ensembl Gene |
ENSMUSG00000040797 |
| Gene Name |
IQ motif and Sec7 domain 3 |
| Synonyms |
BRAG3, synarfGEF |
| MMRRC Submission |
043095-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5537 (G1)
|
| Quality Score |
153 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
121349892-121450637 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 121389603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046373]
[ENSMUST00000129815]
[ENSMUST00000151397]
[ENSMUST00000152103]
|
| AlphaFold |
Q3TES0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046373
AA Change: K623E
|
| SMART Domains |
Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: K623E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
285 |
354 |
5e-16 |
BLAST |
|
low complexity region
|
367 |
386 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
476 |
507 |
2e-9 |
BLAST |
|
low complexity region
|
508 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
628 |
N/A |
INTRINSIC |
|
Sec7
|
652 |
843 |
9.53e-89 |
SMART |
|
PH
|
874 |
985 |
4.03e0 |
SMART |
|
low complexity region
|
1065 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1144 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1178 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129815
|
| SMART Domains |
Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151397
AA Change: K623E
|
| SMART Domains |
Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: K623E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
288 |
354 |
2e-16 |
BLAST |
|
low complexity region
|
367 |
386 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
476 |
507 |
9e-10 |
BLAST |
|
low complexity region
|
508 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
628 |
N/A |
INTRINSIC |
|
Pfam:Sec7
|
655 |
722 |
6.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152103
|
| SMART Domains |
Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
| Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
| Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
| Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
| Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
| Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
| Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
| Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
| S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
| Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
| Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
| Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
| Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly damaging |
Het |
|
| Other mutations in Iqsec3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Iqsec3
|
APN |
6 |
121,450,083 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01615:Iqsec3
|
APN |
6 |
121,387,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01728:Iqsec3
|
APN |
6 |
121,389,623 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01935:Iqsec3
|
APN |
6 |
121,360,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Iqsec3
|
APN |
6 |
121,360,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02369:Iqsec3
|
APN |
6 |
121,389,893 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02684:Iqsec3
|
APN |
6 |
121,389,900 (GRCm39) |
nonsense |
probably null |
|
|
IGL03180:Iqsec3
|
APN |
6 |
121,390,467 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0032:Iqsec3
|
UTSW |
6 |
121,450,089 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0088:Iqsec3
|
UTSW |
6 |
121,450,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0189:Iqsec3
|
UTSW |
6 |
121,390,521 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0193:Iqsec3
|
UTSW |
6 |
121,387,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Iqsec3
|
UTSW |
6 |
121,389,743 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1885:Iqsec3
|
UTSW |
6 |
121,405,326 (GRCm39) |
intron |
probably benign |
|
|
R2698:Iqsec3
|
UTSW |
6 |
121,390,430 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3751:Iqsec3
|
UTSW |
6 |
121,353,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3753:Iqsec3
|
UTSW |
6 |
121,353,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3947:Iqsec3
|
UTSW |
6 |
121,364,783 (GRCm39) |
nonsense |
probably null |
|
|
R3948:Iqsec3
|
UTSW |
6 |
121,364,783 (GRCm39) |
nonsense |
probably null |
|
|
R3949:Iqsec3
|
UTSW |
6 |
121,364,783 (GRCm39) |
nonsense |
probably null |
|
|
R4006:Iqsec3
|
UTSW |
6 |
121,353,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Iqsec3
|
UTSW |
6 |
121,353,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Iqsec3
|
UTSW |
6 |
121,389,999 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4535:Iqsec3
|
UTSW |
6 |
121,356,977 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4567:Iqsec3
|
UTSW |
6 |
121,364,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:Iqsec3
|
UTSW |
6 |
121,363,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Iqsec3
|
UTSW |
6 |
121,360,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Iqsec3
|
UTSW |
6 |
121,363,659 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6555:Iqsec3
|
UTSW |
6 |
121,361,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Iqsec3
|
UTSW |
6 |
121,450,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Iqsec3
|
UTSW |
6 |
121,450,317 (GRCm39) |
missense |
unknown |
|
|
R7372:Iqsec3
|
UTSW |
6 |
121,360,991 (GRCm39) |
nonsense |
probably null |
|
|
R7394:Iqsec3
|
UTSW |
6 |
121,363,569 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7559:Iqsec3
|
UTSW |
6 |
121,364,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Iqsec3
|
UTSW |
6 |
121,360,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Iqsec3
|
UTSW |
6 |
121,450,317 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8114:Iqsec3
|
UTSW |
6 |
121,390,458 (GRCm39) |
missense |
unknown |
|
|
R8115:Iqsec3
|
UTSW |
6 |
121,449,989 (GRCm39) |
missense |
unknown |
|
|
R8197:Iqsec3
|
UTSW |
6 |
121,389,971 (GRCm39) |
missense |
unknown |
|
|
R8353:Iqsec3
|
UTSW |
6 |
121,364,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Iqsec3
|
UTSW |
6 |
121,364,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Iqsec3
|
UTSW |
6 |
121,358,676 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8500:Iqsec3
|
UTSW |
6 |
121,389,813 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8514:Iqsec3
|
UTSW |
6 |
121,390,521 (GRCm39) |
missense |
unknown |
|
|
R8890:Iqsec3
|
UTSW |
6 |
121,389,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8909:Iqsec3
|
UTSW |
6 |
121,390,118 (GRCm39) |
missense |
unknown |
|
|
R8970:Iqsec3
|
UTSW |
6 |
121,366,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Iqsec3
|
UTSW |
6 |
121,390,272 (GRCm39) |
missense |
unknown |
|
|
R9012:Iqsec3
|
UTSW |
6 |
121,389,996 (GRCm39) |
missense |
unknown |
|
|
R9534:Iqsec3
|
UTSW |
6 |
121,367,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTTCCATGAACTGGCTAG -3'
(R):5'- ATCAGGAGGTCTCGGAAGTC -3'
Sequencing Primer
(F):5'- ATGAACTGGCTAGGGGCTC -3'
(R):5'- CAGCCTCGGAACAGATGGAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation