Incidental Mutation 'R8301:Igsf9b'
| ID |
656516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| MMRRC Submission |
067789-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
R8301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to G
at 27246035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
|
| AlphaFold |
E9PZ19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115247
|
| SMART Domains |
Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
| 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 |
probably benign
Transcript: ENSMUST00000133213
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,120,364 (GRCm39) |
I374F |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,300,712 (GRCm39) |
V1108I |
|
Het |
| Aldh16a1 |
C |
T |
7: 44,791,406 (GRCm39) |
A790T |
possibly damaging |
Het |
| Anks1 |
A |
T |
17: 28,278,554 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
T |
G |
5: 98,125,538 (GRCm39) |
T240P |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,250,058 (GRCm39) |
M945K |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,528,866 (GRCm39) |
T1591A |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,198,850 (GRCm39) |
S374P |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,320,933 (GRCm39) |
S236P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,001,179 (GRCm39) |
|
probably benign |
Het |
| Calm1 |
A |
G |
12: 100,171,944 (GRCm39) |
E132G |
probably benign |
Het |
| Casz1 |
A |
G |
4: 149,030,500 (GRCm39) |
D1173G |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,795,659 (GRCm39) |
D413G |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,271 (GRCm39) |
I617T |
possibly damaging |
Het |
| Creb5 |
A |
G |
6: 53,658,018 (GRCm39) |
D116G |
possibly damaging |
Het |
| Csnka2ip |
A |
C |
16: 64,299,354 (GRCm39) |
S337A |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,453,631 (GRCm39) |
E1250G |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,873,577 (GRCm39) |
S727T |
probably benign |
Het |
| Dpy19l1 |
T |
C |
9: 24,396,407 (GRCm39) |
|
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,476,431 (GRCm39) |
T134A |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,030,106 (GRCm39) |
M136L |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,714,803 (GRCm39) |
F598S |
probably benign |
Het |
| Extl3 |
A |
C |
14: 65,313,733 (GRCm39) |
L483R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,920,089 (GRCm39) |
V227A |
possibly damaging |
Het |
| Hsf2 |
A |
G |
10: 57,381,442 (GRCm39) |
D344G |
probably damaging |
Het |
| Ighm |
C |
T |
12: 113,385,165 (GRCm39) |
G265D |
|
Het |
| Ints6 |
A |
G |
14: 62,939,902 (GRCm39) |
V596A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,246,120 (GRCm39) |
E182G |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,818,659 (GRCm39) |
|
probably null |
Het |
| Kalrn |
G |
T |
16: 34,177,470 (GRCm39) |
Q250K |
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,451,770 (GRCm39) |
N46Y |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,977,494 (GRCm39) |
N74S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,178,847 (GRCm39) |
N1303S |
probably benign |
Het |
| Nfs1 |
A |
T |
2: 155,976,413 (GRCm39) |
C160* |
probably null |
Het |
| Or11g7 |
T |
A |
14: 50,691,021 (GRCm39) |
S171T |
probably benign |
Het |
| Or52s1b |
T |
G |
7: 102,822,280 (GRCm39) |
K188T |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,502,833 (GRCm39) |
K303R |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,709 (GRCm39) |
S309P |
probably benign |
Het |
| Orm2 |
T |
C |
4: 63,281,263 (GRCm39) |
F67S |
possibly damaging |
Het |
| Pex5 |
A |
G |
6: 124,382,142 (GRCm39) |
S180P |
probably benign |
Het |
| Phf14 |
G |
C |
6: 11,992,061 (GRCm39) |
G746R |
probably damaging |
Het |
| Pkm |
T |
A |
9: 59,575,914 (GRCm39) |
V110E |
probably damaging |
Het |
| Plekha6 |
T |
G |
1: 133,192,425 (GRCm39) |
N78K |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,472,483 (GRCm39) |
V1076I |
probably benign |
Het |
| Polq |
C |
A |
16: 36,882,181 (GRCm39) |
D1448E |
probably damaging |
Het |
| Pot1b |
T |
C |
17: 55,994,895 (GRCm39) |
T256A |
probably benign |
Het |
| Prkch |
C |
T |
12: 73,749,538 (GRCm39) |
T377I |
possibly damaging |
Het |
| Prl3c1 |
A |
C |
13: 27,383,168 (GRCm39) |
|
probably benign |
Het |
| Prl7b1 |
A |
C |
13: 27,786,755 (GRCm39) |
V158G |
possibly damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,955 (GRCm39) |
S261G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,309,541 (GRCm39) |
|
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,087,302 (GRCm39) |
Y119N |
probably damaging |
Het |
| Rbm6 |
T |
G |
9: 107,729,993 (GRCm39) |
R218S |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,325,568 (GRCm39) |
S1491T |
|
Het |
| Rsf1 |
T |
C |
7: 97,311,132 (GRCm39) |
S621P |
|
Het |
| Runx1 |
C |
A |
16: 92,402,544 (GRCm39) |
*466L |
probably null |
Het |
| Samd4 |
A |
G |
14: 47,254,135 (GRCm39) |
I200V |
probably benign |
Het |
| Sdsl |
C |
T |
5: 120,597,584 (GRCm39) |
C241Y |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,278,725 (GRCm39) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,035,702 (GRCm39) |
P729L |
possibly damaging |
Het |
| Sf1 |
C |
T |
19: 6,418,396 (GRCm39) |
Q55* |
probably null |
Het |
| Slc12a5 |
A |
T |
2: 164,835,611 (GRCm39) |
N833I |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,286 (GRCm39) |
R63G |
probably damaging |
Het |
| Tmeff2 |
G |
T |
1: 51,220,996 (GRCm39) |
A324S |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,466 (GRCm39) |
I88T |
possibly damaging |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,115 (GRCm39) |
I61N |
probably benign |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,322,911 (GRCm39) |
E667V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,263,568 (GRCm39) |
T1598A |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,510 (GRCm39) |
C601S |
probably benign |
Het |
| Zfp873 |
C |
A |
10: 81,896,713 (GRCm39) |
H481Q |
probably damaging |
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 |
|
IGL01960:Igsf9b
|
APN |
9 |
27,239,902 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAATGGGCTTCACTACTCTG -3'
(R):5'- AAACTCTGGGCTGAATGAGG -3'
Sequencing Primer
(F):5'- TTCACTACTCTGGCCACGGG -3'
(R):5'- AGGCTAGCAGGTAAGCCCATC -3'
|
| Posted On |
2020-12-09 |
Incidental Mutation