Incidental Mutation 'R7605:Igsf9b'
| ID |
588246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| MMRRC Submission |
045675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
R7605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27234608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 491
(T491I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
| AlphaFold |
E9PZ19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115247
AA Change: T491I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: T491I
| 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 damaging
Transcript: ENSMUST00000133213
AA Change: T491I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: T491I
| 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 |
probably damaging
Transcript: ENSMUST00000214357
AA Change: T491I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,881,899 (GRCm39) |
L610P |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Asphd2 |
A |
G |
5: 112,539,807 (GRCm39) |
W9R |
probably damaging |
Het |
| Blvrb |
T |
A |
7: 27,165,218 (GRCm39) |
H179Q |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,652,132 (GRCm39) |
|
probably null |
Het |
| Casp6 |
A |
T |
3: 129,705,812 (GRCm39) |
M160L |
probably benign |
Het |
| Chordc1 |
A |
G |
9: 18,215,668 (GRCm39) |
E140G |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,244,442 (GRCm39) |
Y1572F |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,852,658 (GRCm39) |
S235P |
probably damaging |
Het |
| Cyp2u1 |
A |
T |
3: 131,091,602 (GRCm39) |
M306K |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,890,299 (GRCm39) |
L240P |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,796,054 (GRCm39) |
D494E |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,671,470 (GRCm39) |
R1620C |
probably damaging |
Het |
| Dpp8 |
G |
A |
9: 64,962,240 (GRCm39) |
V427M |
probably benign |
Het |
| Dpt |
G |
A |
1: 164,624,400 (GRCm39) |
G34S |
unknown |
Het |
| Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
| Entpd5 |
T |
G |
12: 84,443,482 (GRCm39) |
H62P |
probably damaging |
Het |
| Ep300 |
A |
C |
15: 81,505,353 (GRCm39) |
M658L |
unknown |
Het |
| Epb41l4a |
T |
A |
18: 33,930,504 (GRCm39) |
D651V |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Ephb2 |
A |
T |
4: 136,498,419 (GRCm39) |
V220E |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,874 (GRCm39) |
L226H |
possibly damaging |
Het |
| Fbxo42 |
G |
A |
4: 140,927,129 (GRCm39) |
A470T |
probably benign |
Het |
| Fcgrt |
C |
T |
7: 44,744,675 (GRCm39) |
W264* |
probably null |
Het |
| Flt3 |
A |
C |
5: 147,286,386 (GRCm39) |
H733Q |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,560 (GRCm39) |
D228G |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,054,735 (GRCm39) |
S681P |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,390 (GRCm39) |
V140A |
possibly damaging |
Het |
| Gm8232 |
A |
T |
14: 44,672,384 (GRCm39) |
N100I |
|
Het |
| Grik4 |
A |
G |
9: 42,599,367 (GRCm39) |
C37R |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,678 (GRCm39) |
E388G |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Impa1 |
C |
T |
3: 10,389,147 (GRCm39) |
V105I |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,771 (GRCm39) |
T134A |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,897,302 (GRCm39) |
V1521E |
probably benign |
Het |
| Iws1 |
T |
A |
18: 32,222,540 (GRCm39) |
D623E |
probably benign |
Het |
| Lhfpl5 |
T |
C |
17: 28,795,305 (GRCm39) |
S111P |
possibly damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,244 (GRCm39) |
C83R |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,055 (GRCm39) |
T617M |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,433,383 (GRCm39) |
T163A |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,694,599 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,214,591 (GRCm39) |
Y454N |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,292,862 (GRCm39) |
I230F |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,974,505 (GRCm39) |
L1162F |
probably damaging |
Het |
| Or11i1 |
G |
T |
3: 106,729,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,022 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or51f23b |
C |
T |
7: 102,402,952 (GRCm39) |
M61I |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,075 (GRCm39) |
L15P |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,383 (GRCm39) |
F251L |
probably benign |
Het |
| Or9e1 |
A |
G |
11: 58,732,326 (GRCm39) |
I129V |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,050 (GRCm39) |
L2636P |
unknown |
Het |
| Pfkm |
G |
A |
15: 98,019,191 (GRCm39) |
A181T |
probably damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,839,346 (GRCm39) |
A169T |
probably benign |
Het |
| R3hdml |
T |
A |
2: 163,337,688 (GRCm39) |
M114K |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,189 (GRCm39) |
R1310S |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,040,186 (GRCm39) |
N115K |
probably benign |
Het |
| Sfn |
A |
G |
4: 133,328,548 (GRCm39) |
V178A |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,645,516 (GRCm39) |
T366I |
possibly damaging |
Het |
| Siah1a |
T |
C |
8: 87,451,953 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc37a2 |
A |
C |
9: 37,148,624 (GRCm39) |
I286S |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,119,118 (GRCm39) |
T12A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,654 (GRCm39) |
S399T |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,102,506 (GRCm39) |
S942G |
possibly damaging |
Het |
| Syt13 |
T |
C |
2: 92,773,478 (GRCm39) |
F164S |
probably benign |
Het |
| Topbp1 |
A |
T |
9: 103,209,905 (GRCm39) |
T851S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,800,015 (GRCm39) |
S398T |
unknown |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,521 (GRCm39) |
V206A |
probably damaging |
Het |
| Vmn1r224 |
G |
A |
17: 20,640,221 (GRCm39) |
W266* |
probably null |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,116 (GRCm39) |
D212G |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,770,792 (GRCm39) |
K2078N |
probably damaging |
Het |
| Zfp251 |
A |
C |
15: 76,738,557 (GRCm39) |
F179V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGGCTCCTGAGTGTGAG -3'
(R):5'- CAGTTCGCACATGTCTGACTTC -3'
Sequencing Primer
(F):5'- GAGTGCTTGTTCCTTAAACTGAATCC -3'
(R):5'- ATGTCTGACTTCCCCAGGACAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation