Incidental Mutation 'R6942:Iqsec3'
| ID |
540595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqsec3
|
| Ensembl Gene |
ENSMUSG00000040797 |
| Gene Name |
IQ motif and Sec7 domain 3 |
| Synonyms |
BRAG3, synarfGEF |
| MMRRC Submission |
045056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121349892-121450637 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121450062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 154
(C154Y)
|
| 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: C154Y
|
| SMART Domains |
Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: C154Y
| 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 damaging
Transcript: ENSMUST00000129815
AA Change: C154Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797
AA Change: C154Y
| 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: C154Y
|
| SMART Domains |
Protein: ENSMUSP00000145523
Gene: ENSMUSG00000040797
AA Change: C154Y
| 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 damaging
Transcript: ENSMUST00000152103
AA Change: C154Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797
AA Change: C154Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4890 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,330,024 (GRCm39) |
|
probably null |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,274,635 (GRCm39) |
T483I |
possibly damaging |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,728,094 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,001,101 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,674,457 (GRCm39) |
V140M |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,735,128 (GRCm39) |
|
probably null |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Grin3b |
T |
A |
10: 79,811,953 (GRCm39) |
|
probably null |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,213,983 (GRCm39) |
F1196L |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,537 (GRCm39) |
D1048V |
possibly damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,575 (GRCm39) |
L379P |
probably damaging |
Het |
| Kpna6 |
A |
T |
4: 129,545,514 (GRCm39) |
|
probably null |
Het |
| Large2 |
C |
T |
2: 92,201,167 (GRCm39) |
R28H |
probably damaging |
Het |
| Map4k2 |
T |
A |
19: 6,396,739 (GRCm39) |
W552R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,559,088 (GRCm39) |
I43M |
probably null |
Het |
| Med13l |
C |
A |
5: 118,883,071 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
A |
15: 55,430,596 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or52n5 |
C |
T |
7: 104,588,104 (GRCm39) |
R124C |
possibly damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,696 (GRCm39) |
L497P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,025 (GRCm39) |
T1221A |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,943,160 (GRCm39) |
D273E |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,888 (GRCm39) |
T253S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,074,194 (GRCm39) |
V1897A |
possibly damaging |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Tmem70 |
T |
A |
1: 16,747,380 (GRCm39) |
Y166N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,732,190 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,088,704 (GRCm39) |
|
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,139 (GRCm39) |
N815K |
probably benign |
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 |
|
|
R5537:Iqsec3
|
UTSW |
6 |
121,389,603 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6555:Iqsec3
|
UTSW |
6 |
121,361,178 (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'- ACTTCACAGTGCTCAAGTCC -3'
(R):5'- TCGTGCAGAACCAGCAAAG -3'
Sequencing Primer
(F):5'- ACAGTGCTCAAGTCCTTCAC -3'
(R):5'- TGGGAACACCAGCAGTTGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation