Incidental Mutation 'R7165:Igsf9b'
| ID |
557877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| MMRRC Submission |
045262-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
R7165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27245536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1168
(F1168L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
| 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
AA Change: F1164L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: F1164L
| 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 benign
Transcript: ENSMUST00000214357
AA Change: F1168L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
C |
A |
2: 127,965,028 (GRCm39) |
A624E |
probably benign |
Het |
| Adnp |
A |
G |
2: 168,024,287 (GRCm39) |
S1003P |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,557,386 (GRCm39) |
D75G |
probably damaging |
Het |
| Ap4e1 |
A |
T |
2: 126,905,238 (GRCm39) |
T970S |
possibly damaging |
Het |
| Asb3 |
T |
A |
11: 30,979,029 (GRCm39) |
N106K |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,390 (GRCm39) |
I988V |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,169,157 (GRCm39) |
L198S |
possibly damaging |
Het |
| Ccdc77 |
A |
G |
6: 120,327,193 (GRCm39) |
L84P |
probably damaging |
Het |
| Ccne1 |
C |
T |
7: 37,798,726 (GRCm39) |
A298T |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,287,951 (GRCm39) |
E532V |
probably damaging |
Het |
| Clasp2 |
G |
A |
9: 113,615,467 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
C |
A |
1: 100,003,887 (GRCm39) |
T289N |
possibly damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,648,538 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,532,100 (GRCm39) |
T2296A |
probably benign |
Het |
| Dnaja4 |
A |
T |
9: 54,616,516 (GRCm39) |
Q173L |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,050,479 (GRCm39) |
A3190V |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,671,920 (GRCm39) |
I6N |
probably benign |
Het |
| Fscn1 |
T |
C |
5: 142,957,801 (GRCm39) |
V477A |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,811,541 (GRCm39) |
G2620E |
possibly damaging |
Het |
| Glp1r |
C |
T |
17: 31,128,297 (GRCm39) |
A92V |
probably benign |
Het |
| Gpr137b |
A |
T |
13: 13,542,205 (GRCm39) |
M204K |
probably damaging |
Het |
| Gstm1 |
A |
G |
3: 107,923,693 (GRCm39) |
V104A |
probably benign |
Het |
| Gtf2e1 |
A |
T |
16: 37,356,228 (GRCm39) |
N101K |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,195,589 (GRCm39) |
V1629E |
probably damaging |
Het |
| Kat14 |
A |
G |
2: 144,235,918 (GRCm39) |
T428A |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,077,186 (GRCm39) |
Y403H |
probably damaging |
Het |
| Lpcat1 |
G |
C |
13: 73,662,649 (GRCm39) |
A533P |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,336,917 (GRCm39) |
I1285N |
probably damaging |
Het |
| Mboat1 |
A |
T |
13: 30,408,398 (GRCm39) |
Y187F |
probably damaging |
Het |
| Mkx |
T |
C |
18: 7,002,525 (GRCm39) |
N7S |
probably damaging |
Het |
| Mrps27 |
A |
T |
13: 99,551,307 (GRCm39) |
T357S |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,870 (GRCm39) |
S439P |
unknown |
Het |
| Naa35 |
A |
G |
13: 59,733,997 (GRCm39) |
D9G |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,897,940 (GRCm39) |
N253K |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,160,318 (GRCm39) |
Y2232H |
probably damaging |
Het |
| Nlk |
G |
A |
11: 78,481,793 (GRCm39) |
Q223* |
probably null |
Het |
| Npas2 |
T |
A |
1: 39,331,798 (GRCm39) |
I71N |
possibly damaging |
Het |
| Nup107 |
T |
A |
10: 117,609,267 (GRCm39) |
Q364L |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,934,566 (GRCm39) |
|
probably benign |
Het |
| Otof |
C |
T |
5: 30,532,964 (GRCm39) |
G1593S |
probably damaging |
Het |
| Panx3 |
G |
T |
9: 37,575,381 (GRCm39) |
H160Q |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,180,110 (GRCm39) |
H990Q |
probably damaging |
Het |
| Pax4 |
G |
A |
6: 28,446,136 (GRCm39) |
P119L |
probably damaging |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,123 (GRCm39) |
D216E |
probably damaging |
Het |
| Pcdhgb8 |
T |
A |
18: 37,896,231 (GRCm39) |
S434T |
possibly damaging |
Het |
| Pf4 |
T |
C |
5: 90,920,448 (GRCm39) |
V3A |
probably benign |
Het |
| Phf24 |
T |
C |
4: 42,938,325 (GRCm39) |
S229P |
probably benign |
Het |
| Plcd3 |
A |
G |
11: 102,970,439 (GRCm39) |
F200S |
probably damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,104 (GRCm39) |
H4R |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,099,389 (GRCm39) |
C459R |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,738 (GRCm39) |
|
probably null |
Het |
| Prim2 |
A |
G |
1: 33,667,474 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
T |
A |
19: 30,562,599 (GRCm39) |
H550L |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,501,086 (GRCm39) |
T2809N |
possibly damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,391 (GRCm39) |
E304G |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,655,818 (GRCm39) |
F369L |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,168,885 (GRCm39) |
T31I |
probably benign |
Het |
| Rbsn |
A |
T |
6: 92,168,315 (GRCm39) |
M373K |
probably benign |
Het |
| Rnf168 |
C |
G |
16: 32,101,179 (GRCm39) |
R120G |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,140 (GRCm39) |
I324T |
probably damaging |
Het |
| Samd11 |
T |
C |
4: 156,336,747 (GRCm39) |
S31G |
probably benign |
Het |
| Sart3 |
A |
T |
5: 113,884,056 (GRCm39) |
L652Q |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,924,634 (GRCm39) |
E421G |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,828,397 (GRCm39) |
L215Q |
probably damaging |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,534,639 (GRCm39) |
K3632M |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,264,428 (GRCm39) |
D695E |
probably damaging |
Het |
| Tead3 |
T |
A |
17: 28,552,228 (GRCm39) |
M357L |
probably benign |
Het |
| Tgfbi |
A |
T |
13: 56,775,829 (GRCm39) |
T292S |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,155,157 (GRCm39) |
H247R |
probably benign |
Het |
| Trmt10b |
T |
A |
4: 45,308,549 (GRCm39) |
D236E |
probably damaging |
Het |
| Tshz1 |
C |
A |
18: 84,034,052 (GRCm39) |
V119L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,658,258 (GRCm39) |
V12374G |
unknown |
Het |
| Tubgcp2 |
A |
G |
7: 139,585,274 (GRCm39) |
Y484H |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,177,824 (GRCm39) |
A1947P |
|
Het |
| Uggt1 |
A |
C |
1: 36,194,188 (GRCm39) |
V1350G |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,076 (GRCm39) |
M104L |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,848,113 (GRCm39) |
C257S |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,327,179 (GRCm39) |
S724P |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,940,091 (GRCm39) |
L185Q |
probably null |
Het |
| Zpld1 |
G |
A |
16: 55,052,594 (GRCm39) |
A340V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTATCTCTGGAGGCAC -3'
(R):5'- AGGGTGATCTCTGACATCTCTG -3'
Sequencing Primer
(F):5'- TGGGTAGGCAAGTCACCTG -3'
(R):5'- GATCTCTGACATCTCTGCCTGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation