Incidental Mutation 'R2229:Igsf9b'
| ID |
239611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
LOC235086 |
| MMRRC Submission |
040230-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R2229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27299204-27357546 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27333496 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 920
(S920P)
|
| 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 damaging
Transcript: ENSMUST00000133213
AA Change: S916P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: S916P
| 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: S920P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0944 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 40,680,365 (GRCm38) |
I291L |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,822,207 (GRCm38) |
R407L |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,436,051 (GRCm38) |
V212E |
probably damaging |
Het |
| Adgrg7 |
C |
T |
16: 56,752,403 (GRCm38) |
S350N |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,433,378 (GRCm38) |
T448A |
probably benign |
Het |
| Aldh1l1 |
C |
G |
6: 90,583,186 (GRCm38) |
T605R |
probably damaging |
Het |
| Arfip1 |
A |
T |
3: 84,547,973 (GRCm38) |
N18K |
probably damaging |
Het |
| Atp6v1b2 |
C |
A |
8: 69,102,759 (GRCm38) |
|
probably null |
Het |
| Banp |
G |
A |
8: 121,978,685 (GRCm38) |
S98N |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,169,118 (GRCm38) |
D601G |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,445,420 (GRCm38) |
I20T |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,685,804 (GRCm38) |
V744A |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,808,054 (GRCm38) |
E311G |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,948,856 (GRCm38) |
|
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,407,846 (GRCm38) |
Y615H |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 134,074,526 (GRCm38) |
|
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,451,056 (GRCm38) |
P502S |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,222,444 (GRCm38) |
E367G |
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,036,714 (GRCm38) |
D67G |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,274,190 (GRCm38) |
|
probably benign |
Het |
| Gm7853 |
A |
G |
14: 36,089,527 (GRCm38) |
|
noncoding transcript |
Het |
| Gmps |
T |
G |
3: 64,014,263 (GRCm38) |
Y562* |
probably null |
Het |
| Golga2 |
C |
A |
2: 32,306,465 (GRCm38) |
P976T |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,750,141 (GRCm38) |
I314F |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,626,795 (GRCm38) |
V324A |
possibly damaging |
Het |
| Gykl1 |
A |
G |
18: 52,695,267 (GRCm38) |
T516A |
probably benign |
Het |
| Hist2h2ab |
T |
C |
3: 96,220,106 (GRCm38) |
L64P |
possibly damaging |
Het |
| Ifit1bl2 |
G |
T |
19: 34,619,230 (GRCm38) |
L329M |
possibly damaging |
Het |
| Kif3c |
T |
A |
12: 3,366,671 (GRCm38) |
S231T |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,989,697 (GRCm38) |
Y482N |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,904,392 (GRCm38) |
|
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,773,694 (GRCm38) |
S121G |
probably benign |
Het |
| Mppe1 |
A |
G |
18: 67,228,011 (GRCm38) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,861,644 (GRCm38) |
C2776S |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,308,348 (GRCm38) |
N1893K |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 98,054,910 (GRCm38) |
T1932A |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,970,904 (GRCm38) |
T296A |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,455,934 (GRCm38) |
|
probably null |
Het |
| Nek5 |
A |
T |
8: 22,113,632 (GRCm38) |
N151K |
possibly damaging |
Het |
| Nup93 |
C |
T |
8: 94,304,191 (GRCm38) |
T305I |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,357,155 (GRCm38) |
H663Q |
probably benign |
Het |
| Optn |
T |
A |
2: 5,024,117 (GRCm38) |
H525L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 58,932,412 (GRCm38) |
|
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,267,855 (GRCm38) |
K1801E |
probably damaging |
Het |
| Pkd2l2 |
G |
A |
18: 34,430,329 (GRCm38) |
V478M |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,228,133 (GRCm38) |
R210W |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,733,698 (GRCm38) |
R224L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,897,598 (GRCm38) |
T39A |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 139,255,188 (GRCm38) |
C182R |
probably damaging |
Het |
| Rcan3 |
T |
C |
4: 135,425,377 (GRCm38) |
D11G |
probably benign |
Het |
| Rgsl1 |
C |
A |
1: 153,822,358 (GRCm38) |
W482L |
possibly damaging |
Het |
| Sfxn4 |
C |
T |
19: 60,851,020 (GRCm38) |
G200E |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,809,299 (GRCm38) |
I848T |
probably damaging |
Het |
| Slc7a13 |
T |
C |
4: 19,839,399 (GRCm38) |
V334A |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,488,341 (GRCm38) |
|
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,666,901 (GRCm38) |
I156L |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,174,453 (GRCm38) |
|
probably null |
Het |
| Tas2r104 |
G |
A |
6: 131,685,132 (GRCm38) |
H205Y |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,832,177 (GRCm38) |
|
probably benign |
Het |
| Tex15 |
C |
A |
8: 33,571,237 (GRCm38) |
H232N |
probably benign |
Het |
| Tg |
A |
T |
15: 66,674,011 (GRCm38) |
Q194L |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,644,776 (GRCm38) |
|
probably null |
Het |
| Trim25 |
T |
A |
11: 89,016,621 (GRCm38) |
V602E |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,983,063 (GRCm38) |
E54G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,729,324 (GRCm38) |
T29578A |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,830,881 (GRCm38) |
Q960R |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm38) |
P46S |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,917,551 (GRCm38) |
I727V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 85,152,042 (GRCm38) |
I229F |
probably benign |
Het |
| Vmn2r92 |
A |
C |
17: 18,167,392 (GRCm38) |
I220L |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,275,641 (GRCm38) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,745 (GRCm38) |
Y437N |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,690,213 (GRCm38) |
I540T |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,595,265 (GRCm38) |
I60M |
probably damaging |
Het |
|
| Other mutations in Igsf9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Igsf9b
|
APN |
9 |
27,319,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01013:Igsf9b
|
APN |
9 |
27,334,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01960:Igsf9b
|
APN |
9 |
27,328,606 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02398:Igsf9b
|
APN |
9 |
27,333,130 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL03007:Igsf9b
|
APN |
9 |
27,333,082 (GRCm38) |
missense |
probably damaging |
0.98 |
|
G1Funyon:Igsf9b
|
UTSW |
9 |
27,334,739 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03014:Igsf9b
|
UTSW |
9 |
27,322,636 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0127:Igsf9b
|
UTSW |
9 |
27,334,385 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0376:Igsf9b
|
UTSW |
9 |
27,334,582 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0520:Igsf9b
|
UTSW |
9 |
27,323,250 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0534:Igsf9b
|
UTSW |
9 |
27,333,062 (GRCm38) |
splice site |
probably null |
|
|
R0613:Igsf9b
|
UTSW |
9 |
27,326,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0718:Igsf9b
|
UTSW |
9 |
27,323,361 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0828:Igsf9b
|
UTSW |
9 |
27,319,605 (GRCm38) |
nonsense |
probably null |
|
|
R0879:Igsf9b
|
UTSW |
9 |
27,333,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0882:Igsf9b
|
UTSW |
9 |
27,319,316 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0987:Igsf9b
|
UTSW |
9 |
27,332,553 (GRCm38) |
splice site |
probably null |
|
|
R1162:Igsf9b
|
UTSW |
9 |
27,326,889 (GRCm38) |
missense |
probably benign |
|
|
R1758:Igsf9b
|
UTSW |
9 |
27,334,252 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1760:Igsf9b
|
UTSW |
9 |
27,317,827 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1819:Igsf9b
|
UTSW |
9 |
27,311,593 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1823:Igsf9b
|
UTSW |
9 |
27,331,732 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1982:Igsf9b
|
UTSW |
9 |
27,322,239 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2150:Igsf9b
|
UTSW |
9 |
27,334,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2228:Igsf9b
|
UTSW |
9 |
27,333,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2250:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2872:Igsf9b
|
UTSW |
9 |
27,322,223 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2872:Igsf9b
|
UTSW |
9 |
27,322,223 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3415:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3416:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3417:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3427:Igsf9b
|
UTSW |
9 |
27,334,577 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4356:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4357:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4358:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4359:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4379:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4416:Igsf9b
|
UTSW |
9 |
27,322,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4445:Igsf9b
|
UTSW |
9 |
27,334,252 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4446:Igsf9b
|
UTSW |
9 |
27,334,252 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4787:Igsf9b
|
UTSW |
9 |
27,317,456 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4887:Igsf9b
|
UTSW |
9 |
27,322,650 (GRCm38) |
missense |
probably benign |
0.45 |
|
R5085:Igsf9b
|
UTSW |
9 |
27,317,437 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5360:Igsf9b
|
UTSW |
9 |
27,311,672 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5417:Igsf9b
|
UTSW |
9 |
27,334,276 (GRCm38) |
small insertion |
probably benign |
|
|
R5686:Igsf9b
|
UTSW |
9 |
27,324,179 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5738:Igsf9b
|
UTSW |
9 |
27,328,530 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5869:Igsf9b
|
UTSW |
9 |
27,323,235 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6304:Igsf9b
|
UTSW |
9 |
27,342,575 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6359:Igsf9b
|
UTSW |
9 |
27,309,599 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6367:Igsf9b
|
UTSW |
9 |
27,309,525 (GRCm38) |
nonsense |
probably null |
|
|
R6556:Igsf9b
|
UTSW |
9 |
27,329,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7058:Igsf9b
|
UTSW |
9 |
27,322,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7165:Igsf9b
|
UTSW |
9 |
27,334,240 (GRCm38) |
missense |
probably benign |
|
|
R7180:Igsf9b
|
UTSW |
9 |
27,322,668 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7212:Igsf9b
|
UTSW |
9 |
27,331,696 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7461:Igsf9b
|
UTSW |
9 |
27,334,122 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7605:Igsf9b
|
UTSW |
9 |
27,323,312 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7609:Igsf9b
|
UTSW |
9 |
27,345,890 (GRCm38) |
missense |
probably benign |
|
|
R7613:Igsf9b
|
UTSW |
9 |
27,334,122 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8072:Igsf9b
|
UTSW |
9 |
27,317,364 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8163:Igsf9b
|
UTSW |
9 |
27,322,611 (GRCm38) |
splice site |
probably null |
|
|
R8301:Igsf9b
|
UTSW |
9 |
27,334,739 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R8546:Igsf9b
|
UTSW |
9 |
27,333,130 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8553:Igsf9b
|
UTSW |
9 |
27,333,443 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9438:Igsf9b
|
UTSW |
9 |
27,332,543 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9585:Igsf9b
|
UTSW |
9 |
27,322,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9720:Igsf9b
|
UTSW |
9 |
27,309,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0013:Igsf9b
|
UTSW |
9 |
27,331,725 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
X0025:Igsf9b
|
UTSW |
9 |
27,309,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Igsf9b
|
UTSW |
9 |
27,334,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Igsf9b
|
UTSW |
9 |
27,317,353 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Z1177:Igsf9b
|
UTSW |
9 |
27,334,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGATCAGTAGAGGCCCG -3'
(R):5'- CATATAGAAGGGTGGAGGCTCC -3'
Sequencing Primer
(F):5'- TCAGTAGAGGCCCGGATGG -3'
(R):5'- TGGAGGCTCCACTTCCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation