Incidental Mutation 'R4007:Iqsec3'
ID |
311523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqsec3
|
Ensembl Gene |
ENSMUSG00000040797 |
Gene Name |
IQ motif and Sec7 domain 3 |
Synonyms |
BRAG3, synarfGEF |
MMRRC Submission |
041610-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4007 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
121349892-121450637 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121353187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1144
(S1144P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038653
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046373]
[ENSMUST00000129815]
[ENSMUST00000152103]
|
AlphaFold |
Q3TES0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046373
AA Change: S1144P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038653 Gene: ENSMUSG00000040797 AA Change: S1144P
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 |
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 |
|
Meta Mutation Damage Score |
0.1438 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
Aff1 |
A |
T |
5: 103,932,088 (GRCm39) |
K243N |
probably benign |
Het |
Aknad1 |
T |
C |
3: 108,682,598 (GRCm39) |
I558T |
probably benign |
Het |
Ampd1 |
A |
G |
3: 102,999,776 (GRCm39) |
I460V |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,150,679 (GRCm39) |
H1459L |
probably benign |
Het |
Card9 |
T |
A |
2: 26,243,012 (GRCm39) |
R459W |
possibly damaging |
Het |
Chd3 |
A |
T |
11: 69,239,827 (GRCm39) |
I1667N |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,730,291 (GRCm39) |
S1672P |
probably damaging |
Het |
Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
Dhx37 |
G |
A |
5: 125,501,995 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,025,741 (GRCm39) |
|
probably benign |
Het |
Elp1 |
G |
A |
4: 56,794,139 (GRCm39) |
T168I |
probably damaging |
Het |
Erbb4 |
C |
A |
1: 68,779,560 (GRCm39) |
R72L |
probably damaging |
Het |
F11r |
A |
G |
1: 171,288,916 (GRCm39) |
K178R |
probably benign |
Het |
Fan1 |
A |
G |
7: 64,016,309 (GRCm39) |
L605P |
probably damaging |
Het |
Fcna |
A |
G |
2: 25,516,018 (GRCm39) |
|
probably null |
Het |
Filip1 |
A |
G |
9: 79,726,009 (GRCm39) |
I870T |
possibly damaging |
Het |
Gm11595 |
C |
T |
11: 99,662,861 (GRCm39) |
C273Y |
unknown |
Het |
Gml |
T |
A |
15: 74,685,548 (GRCm39) |
I146L |
possibly damaging |
Het |
Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
Ifitm6 |
T |
A |
7: 140,596,627 (GRCm39) |
I69F |
possibly damaging |
Het |
Kazn |
T |
C |
4: 141,834,203 (GRCm39) |
T618A |
unknown |
Het |
Mrps5 |
C |
A |
2: 127,433,755 (GRCm39) |
T48K |
possibly damaging |
Het |
Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Opn4 |
A |
T |
14: 34,321,789 (GRCm39) |
S43T |
probably benign |
Het |
Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
Rbsn |
T |
A |
6: 92,166,800 (GRCm39) |
T615S |
probably benign |
Het |
Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,751,738 (GRCm39) |
I129V |
probably damaging |
Het |
Rubcnl |
G |
T |
14: 75,287,143 (GRCm39) |
V604L |
possibly damaging |
Het |
Slc26a4 |
T |
A |
12: 31,590,532 (GRCm39) |
K374* |
probably null |
Het |
Slc4a4 |
T |
A |
5: 89,362,452 (GRCm39) |
S854R |
probably damaging |
Het |
Sv2c |
A |
G |
13: 96,123,341 (GRCm39) |
|
probably benign |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,658,430 (GRCm39) |
S572G |
probably damaging |
Het |
Trbv13-3 |
T |
C |
6: 41,107,120 (GRCm39) |
C14R |
probably benign |
Het |
Ttc7 |
G |
A |
17: 87,597,679 (GRCm39) |
D84N |
possibly damaging |
Het |
Ubtd1 |
G |
T |
19: 42,020,555 (GRCm39) |
G100* |
probably null |
Het |
Vmn2r18 |
A |
T |
5: 151,508,711 (GRCm39) |
W138R |
probably damaging |
Het |
Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
Zfp385b |
C |
T |
2: 77,549,836 (GRCm39) |
G83D |
probably benign |
Het |
Zfp493 |
A |
G |
13: 67,932,038 (GRCm39) |
|
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 |
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 |
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'- TAAGGGTAGAGCCTACACCAG -3'
(R):5'- ACAGGCTTCAAACGTCCCAG -3'
Sequencing Primer
(F):5'- GCAGAACTGATGAGGGTGGTTGT -3'
(R):5'- AGCACAGCCCCAAGTTGG -3'
|
Posted On |
2015-04-29 |