Incidental Mutation 'R0613:Igsf9b'
| ID |
54890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| MMRRC Submission |
038802-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
R0613 (G1)
|
| Quality Score |
93 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27238216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 569
(V569A)
|
| 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: V569A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: V569A
| 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: V569A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: V569A
| 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 |
probably damaging
Transcript: ENSMUST00000214357
AA Change: V573A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1523 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
T |
8: 106,427,200 (GRCm39) |
|
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,237,403 (GRCm39) |
S3P |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,248,859 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,004 (GRCm39) |
E700G |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,596,979 (GRCm39) |
S56P |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,611,978 (GRCm39) |
I384N |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,399,036 (GRCm39) |
S1519T |
probably benign |
Het |
| Ccl25 |
T |
C |
8: 4,399,850 (GRCm39) |
V94A |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,602,246 (GRCm39) |
T287A |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,752,209 (GRCm39) |
S383P |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,906,228 (GRCm39) |
F793I |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,496 (GRCm39) |
R89G |
probably damaging |
Het |
| Cyp2j12 |
T |
G |
4: 95,990,316 (GRCm39) |
T417P |
probably damaging |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,061 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,102,383 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,963,853 (GRCm39) |
N239Y |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,848,347 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,139 (GRCm39) |
D6624V |
probably damaging |
Het |
| Gpr107 |
A |
G |
2: 31,068,297 (GRCm39) |
Y253C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,545,174 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 87,848,221 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,737,721 (GRCm39) |
N293K |
probably damaging |
Het |
| Hps6 |
C |
A |
19: 45,992,260 (GRCm39) |
P66T |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,081,033 (GRCm39) |
V216E |
probably damaging |
Het |
| Igsf8 |
T |
A |
1: 172,145,156 (GRCm39) |
M224K |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,884,168 (GRCm39) |
I952F |
probably damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Khdrbs2 |
A |
G |
1: 32,696,603 (GRCm39) |
H344R |
possibly damaging |
Het |
| Kmo |
C |
A |
1: 175,465,458 (GRCm39) |
R71S |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,739,184 (GRCm39) |
|
probably benign |
Het |
| Map1b |
T |
A |
13: 99,578,149 (GRCm39) |
D168V |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,697,855 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
G |
A |
6: 138,133,243 (GRCm39) |
G186D |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,299,630 (GRCm39) |
A740V |
probably damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,610,503 (GRCm39) |
Y1605H |
possibly damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,898,509 (GRCm39) |
L443Q |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,060,807 (GRCm39) |
|
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,353 (GRCm39) |
L363Q |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 108,092,927 (GRCm39) |
T630A |
possibly damaging |
Het |
| Nipal4 |
A |
T |
11: 46,041,211 (GRCm39) |
V328E |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,861 (GRCm39) |
I77F |
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,469 (GRCm39) |
C178S |
probably damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,053 (GRCm39) |
V223E |
possibly damaging |
Het |
| Or6c76 |
T |
A |
10: 129,612,131 (GRCm39) |
M116K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,909 (GRCm39) |
C166* |
probably null |
Het |
| Otogl |
A |
T |
10: 107,652,931 (GRCm39) |
N1140K |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,680,465 (GRCm39) |
Y236* |
probably null |
Het |
| Prelid1 |
C |
T |
13: 55,472,156 (GRCm39) |
R111* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,394,270 (GRCm39) |
L1771P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,230 (GRCm39) |
Y378F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,138,283 (GRCm39) |
T396A |
possibly damaging |
Het |
| Rab3il1 |
T |
C |
19: 10,005,728 (GRCm39) |
L174P |
probably damaging |
Het |
| Rab4a |
T |
C |
8: 124,550,574 (GRCm39) |
V18A |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,302,628 (GRCm39) |
M1273L |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 170,957,413 (GRCm39) |
V156E |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,996,382 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,924,371 (GRCm39) |
T343A |
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,669,776 (GRCm39) |
C39R |
probably damaging |
Het |
| Tll2 |
G |
T |
19: 41,093,429 (GRCm39) |
D462E |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,329,164 (GRCm39) |
V481D |
probably damaging |
Het |
| Tmem161b |
C |
T |
13: 84,399,439 (GRCm39) |
L17F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,578 (GRCm39) |
I833F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,213,140 (GRCm39) |
N175I |
probably damaging |
Het |
| Xpnpep1 |
G |
T |
19: 52,994,784 (GRCm39) |
D238E |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,826,453 (GRCm39) |
G807D |
probably benign |
Het |
| Zfp518b |
A |
T |
5: 38,830,946 (GRCm39) |
V353E |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,791,544 (GRCm39) |
E39G |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,090 (GRCm39) |
H25R |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGAAGGTTGGCATAGCCAGAG -3'
(R):5'- CTGAGCCTGTCTGTTCCATCCAAG -3'
Sequencing Primer
(F):5'- CCTGAACCTGGGGATGCTTG -3'
(R):5'- GTACATGGCAAATCCTTACTGGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation