Incidental Mutation 'IGL01960:Igsf9b'
| ID |
182370 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
IGL01960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27239902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 649
(D649G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
| AlphaFold |
E9PZ19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115247
AA Change: D645G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: D645G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
30 |
134 |
9.41e-9 |
SMART |
|
IGc2
|
152 |
215 |
1.82e-15 |
SMART |
|
FN3
|
232 |
302 |
7.02e1 |
SMART |
|
IGc2
|
241 |
310 |
3.01e-7 |
SMART |
|
IG
|
331 |
417 |
2.79e-2 |
SMART |
|
IGc2
|
433 |
495 |
5.48e-10 |
SMART |
|
FN3
|
510 |
591 |
1.35e-7 |
SMART |
|
FN3
|
615 |
695 |
3.08e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133213
AA Change: D645G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: D645G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
30 |
134 |
9.41e-9 |
SMART |
|
IGc2
|
152 |
215 |
1.82e-15 |
SMART |
|
FN3
|
232 |
302 |
7.02e1 |
SMART |
|
IGc2
|
241 |
310 |
3.01e-7 |
SMART |
|
IG
|
331 |
417 |
2.79e-2 |
SMART |
|
IGc2
|
433 |
495 |
5.48e-10 |
SMART |
|
FN3
|
510 |
591 |
1.35e-7 |
SMART |
|
FN3
|
615 |
695 |
3.08e-2 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1273 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214187
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214357
AA Change: D649G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
A |
4: 129,906,177 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
C |
3: 137,932,043 (GRCm39) |
I219T |
probably damaging |
Het |
| Ankmy1 |
C |
A |
1: 92,799,385 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,537 (GRCm39) |
I681V |
probably benign |
Het |
| Arfgap3 |
T |
C |
15: 83,197,758 (GRCm39) |
T333A |
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,830 (GRCm39) |
V187A |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,878,535 (GRCm39) |
G26R |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,163,497 (GRCm39) |
|
probably benign |
Het |
| Dnajb4 |
T |
C |
3: 151,892,176 (GRCm39) |
E219G |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,518,631 (GRCm39) |
K578R |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,329,570 (GRCm39) |
D4649V |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,792,075 (GRCm39) |
S391P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,767,582 (GRCm39) |
Y801F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,429,725 (GRCm39) |
E2775A |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,741 (GRCm39) |
S830T |
possibly damaging |
Het |
| Gatad2a |
T |
G |
8: 70,362,598 (GRCm39) |
S581R |
possibly damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,381,818 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,226,158 (GRCm39) |
L2505P |
probably benign |
Het |
| Impact |
T |
C |
18: 13,107,815 (GRCm39) |
C28R |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,097,306 (GRCm39) |
Q863K |
probably damaging |
Het |
| Iqsec1 |
A |
C |
6: 90,653,762 (GRCm39) |
M675R |
probably damaging |
Het |
| Kcng3 |
C |
T |
17: 83,895,279 (GRCm39) |
V396I |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,279,814 (GRCm39) |
D60E |
probably benign |
Het |
| Krtap7-1 |
C |
T |
16: 89,305,156 (GRCm39) |
|
probably benign |
Het |
| Mal2 |
T |
A |
15: 54,461,941 (GRCm39) |
Y145* |
probably null |
Het |
| Mcpt8 |
A |
T |
14: 56,319,864 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,758,393 (GRCm39) |
D4810G |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,598,368 (GRCm39) |
I766V |
probably benign |
Het |
| Mga |
G |
A |
2: 119,769,138 (GRCm39) |
V1477M |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,121,663 (GRCm39) |
V112E |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,931,337 (GRCm39) |
S125T |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,691 (GRCm39) |
V102A |
probably benign |
Het |
| Or6c212 |
A |
G |
10: 129,558,756 (GRCm39) |
I219T |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,003 (GRCm39) |
I13F |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,231,795 (GRCm39) |
N220S |
probably damaging |
Het |
| Pacsin1 |
T |
G |
17: 27,923,809 (GRCm39) |
|
probably null |
Het |
| Pcsk1 |
A |
G |
13: 75,241,286 (GRCm39) |
R89G |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,153,947 (GRCm39) |
E509V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,677,588 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
T |
G |
12: 103,547,753 (GRCm39) |
|
probably benign |
Het |
| Pygb |
T |
A |
2: 150,655,403 (GRCm39) |
N251K |
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,310,782 (GRCm39) |
T504I |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,869,163 (GRCm39) |
T584S |
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,555 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
G |
A |
2: 162,775,674 (GRCm39) |
R161H |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,820,708 (GRCm39) |
S573T |
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,153,737 (GRCm39) |
R172Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,619,244 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,284,893 (GRCm39) |
M542V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,647,659 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,315 (GRCm39) |
K299N |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,115 (GRCm39) |
|
probably benign |
Het |
| Zbtb46 |
T |
A |
2: 181,065,928 (GRCm39) |
H74L |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,354,524 (GRCm39) |
L1416I |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,369,803 (GRCm39) |
L73S |
probably benign |
Het |
| Zfp667 |
G |
A |
7: 6,308,336 (GRCm39) |
G335R |
probably benign |
Het |
|
| Other mutations in Igsf9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Igsf9b
|
APN |
9 |
27,230,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Igsf9b
|
APN |
9 |
27,245,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Igsf9b
|
APN |
9 |
27,244,426 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03007:Igsf9b
|
APN |
9 |
27,244,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
G1Funyon:Igsf9b
|
UTSW |
9 |
27,246,035 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03014:Igsf9b
|
UTSW |
9 |
27,233,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0127:Igsf9b
|
UTSW |
9 |
27,245,681 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0376:Igsf9b
|
UTSW |
9 |
27,245,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0520:Igsf9b
|
UTSW |
9 |
27,234,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0534:Igsf9b
|
UTSW |
9 |
27,244,358 (GRCm39) |
splice site |
probably null |
|
|
R0613:Igsf9b
|
UTSW |
9 |
27,238,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Igsf9b
|
UTSW |
9 |
27,234,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0828:Igsf9b
|
UTSW |
9 |
27,230,901 (GRCm39) |
nonsense |
probably null |
|
|
R0879:Igsf9b
|
UTSW |
9 |
27,245,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Igsf9b
|
UTSW |
9 |
27,230,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0987:Igsf9b
|
UTSW |
9 |
27,243,849 (GRCm39) |
splice site |
probably null |
|
|
R1162:Igsf9b
|
UTSW |
9 |
27,238,185 (GRCm39) |
missense |
probably benign |
|
|
R1758:Igsf9b
|
UTSW |
9 |
27,245,548 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1760:Igsf9b
|
UTSW |
9 |
27,229,123 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1819:Igsf9b
|
UTSW |
9 |
27,222,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1823:Igsf9b
|
UTSW |
9 |
27,243,028 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1982:Igsf9b
|
UTSW |
9 |
27,233,535 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2150:Igsf9b
|
UTSW |
9 |
27,245,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Igsf9b
|
UTSW |
9 |
27,244,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Igsf9b
|
UTSW |
9 |
27,244,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2250:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2872:Igsf9b
|
UTSW |
9 |
27,233,519 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2872:Igsf9b
|
UTSW |
9 |
27,233,519 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3415:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3416:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3417:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3427:Igsf9b
|
UTSW |
9 |
27,245,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4356:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4357:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4358:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4359:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4379:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4416:Igsf9b
|
UTSW |
9 |
27,234,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Igsf9b
|
UTSW |
9 |
27,245,548 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4446:Igsf9b
|
UTSW |
9 |
27,245,548 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4787:Igsf9b
|
UTSW |
9 |
27,228,752 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4887:Igsf9b
|
UTSW |
9 |
27,233,946 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5085:Igsf9b
|
UTSW |
9 |
27,228,733 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5360:Igsf9b
|
UTSW |
9 |
27,222,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5417:Igsf9b
|
UTSW |
9 |
27,245,572 (GRCm39) |
small insertion |
probably benign |
|
|
R5686:Igsf9b
|
UTSW |
9 |
27,235,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5738:Igsf9b
|
UTSW |
9 |
27,239,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5869:Igsf9b
|
UTSW |
9 |
27,234,531 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6304:Igsf9b
|
UTSW |
9 |
27,253,871 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6359:Igsf9b
|
UTSW |
9 |
27,220,895 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6367:Igsf9b
|
UTSW |
9 |
27,220,821 (GRCm39) |
nonsense |
probably null |
|
|
R6556:Igsf9b
|
UTSW |
9 |
27,240,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Igsf9b
|
UTSW |
9 |
27,234,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7165:Igsf9b
|
UTSW |
9 |
27,245,536 (GRCm39) |
missense |
probably benign |
|
|
R7180:Igsf9b
|
UTSW |
9 |
27,233,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7212:Igsf9b
|
UTSW |
9 |
27,242,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7461:Igsf9b
|
UTSW |
9 |
27,245,418 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7605:Igsf9b
|
UTSW |
9 |
27,234,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7609:Igsf9b
|
UTSW |
9 |
27,257,186 (GRCm39) |
missense |
probably benign |
|
|
R7613:Igsf9b
|
UTSW |
9 |
27,245,418 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8072:Igsf9b
|
UTSW |
9 |
27,228,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8163:Igsf9b
|
UTSW |
9 |
27,233,907 (GRCm39) |
splice site |
probably null |
|
|
R8301:Igsf9b
|
UTSW |
9 |
27,246,035 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8546:Igsf9b
|
UTSW |
9 |
27,244,426 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8553:Igsf9b
|
UTSW |
9 |
27,244,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9438:Igsf9b
|
UTSW |
9 |
27,243,839 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9585:Igsf9b
|
UTSW |
9 |
27,233,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Igsf9b
|
UTSW |
9 |
27,220,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0013:Igsf9b
|
UTSW |
9 |
27,243,021 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0025:Igsf9b
|
UTSW |
9 |
27,220,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Igsf9b
|
UTSW |
9 |
27,245,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Igsf9b
|
UTSW |
9 |
27,228,649 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Igsf9b
|
UTSW |
9 |
27,245,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation