Incidental Mutation 'R2229:Igsf9b'
ID |
239611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf9b
|
Ensembl Gene |
ENSMUSG00000034275 |
Gene Name |
immunoglobulin superfamily, member 9B |
Synonyms |
AI414108, LOC235086 |
MMRRC Submission |
040230-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.453)
|
Stock # |
R2229 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27244792 bp (GRCm39)
|
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: 41,133,404 (GRCm39) |
I291L |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,694,056 (GRCm39) |
R407L |
possibly damaging |
Het |
Adgb |
A |
T |
10: 10,311,795 (GRCm39) |
V212E |
probably damaging |
Het |
Adgrg7 |
C |
T |
16: 56,572,766 (GRCm39) |
S350N |
probably benign |
Het |
Agbl1 |
A |
G |
7: 76,083,126 (GRCm39) |
T448A |
probably benign |
Het |
Aldh1l1 |
C |
G |
6: 90,560,168 (GRCm39) |
T605R |
probably damaging |
Het |
Arfip1 |
A |
T |
3: 84,455,280 (GRCm39) |
N18K |
probably damaging |
Het |
Atp6v1b2 |
C |
A |
8: 69,555,411 (GRCm39) |
|
probably null |
Het |
Banp |
G |
A |
8: 122,705,424 (GRCm39) |
S98N |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,059,945 (GRCm39) |
D601G |
probably damaging |
Het |
C9 |
T |
C |
15: 6,474,901 (GRCm39) |
I20T |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,575,816 (GRCm39) |
V744A |
probably damaging |
Het |
Catsper3 |
A |
G |
13: 55,955,867 (GRCm39) |
E311G |
probably damaging |
Het |
Ccdc180 |
G |
T |
4: 45,948,856 (GRCm39) |
|
probably null |
Het |
Cdc5l |
A |
G |
17: 45,718,772 (GRCm39) |
Y615H |
probably benign |
Het |
Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
Eml4 |
C |
T |
17: 83,758,485 (GRCm39) |
P502S |
probably benign |
Het |
Fsip1 |
T |
C |
2: 118,052,925 (GRCm39) |
E367G |
probably benign |
Het |
Gja3 |
T |
C |
14: 57,274,171 (GRCm39) |
D67G |
probably damaging |
Het |
Gm4894 |
T |
C |
9: 49,185,490 (GRCm39) |
|
probably benign |
Het |
Gm7853 |
A |
G |
14: 35,811,484 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
T |
G |
3: 63,921,684 (GRCm39) |
Y562* |
probably null |
Het |
Golga2 |
C |
A |
2: 32,196,477 (GRCm39) |
P976T |
probably benign |
Het |
Gpr182 |
T |
A |
10: 127,586,010 (GRCm39) |
I314F |
possibly damaging |
Het |
Gprc6a |
A |
G |
10: 51,502,891 (GRCm39) |
V324A |
possibly damaging |
Het |
Gykl1 |
A |
G |
18: 52,828,339 (GRCm39) |
T516A |
probably benign |
Het |
H2ac21 |
T |
C |
3: 96,127,422 (GRCm39) |
L64P |
possibly damaging |
Het |
Ifit1bl2 |
G |
T |
19: 34,596,630 (GRCm39) |
L329M |
possibly damaging |
Het |
Kif3c |
T |
A |
12: 3,416,671 (GRCm39) |
S231T |
probably benign |
Het |
Kpna7 |
A |
T |
5: 144,926,507 (GRCm39) |
Y482N |
probably damaging |
Het |
Lmnb2 |
T |
C |
10: 80,740,226 (GRCm39) |
|
probably benign |
Het |
Lrrc69 |
T |
C |
4: 14,773,694 (GRCm39) |
S121G |
probably benign |
Het |
Mppe1 |
A |
G |
18: 67,361,082 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
A |
7: 141,415,381 (GRCm39) |
C2776S |
possibly damaging |
Het |
Myh8 |
T |
G |
11: 67,199,174 (GRCm39) |
N1893K |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,704,117 (GRCm39) |
T1932A |
probably benign |
Het |
Nbn |
A |
G |
4: 15,970,904 (GRCm39) |
T296A |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,364,361 (GRCm39) |
|
probably null |
Het |
Nek5 |
A |
T |
8: 22,603,648 (GRCm39) |
N151K |
possibly damaging |
Het |
Nup93 |
C |
T |
8: 95,030,819 (GRCm39) |
T305I |
probably benign |
Het |
Oca2 |
T |
A |
7: 56,006,903 (GRCm39) |
H663Q |
probably benign |
Het |
Optn |
T |
A |
2: 5,028,928 (GRCm39) |
H525L |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,239,407 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,307,014 (GRCm39) |
K1801E |
probably damaging |
Het |
Pkd2l2 |
G |
A |
18: 34,563,382 (GRCm39) |
V478M |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp1r3c |
C |
A |
19: 36,711,098 (GRCm39) |
R224L |
probably benign |
Het |
Prpf19 |
A |
G |
19: 10,874,962 (GRCm39) |
T39A |
probably benign |
Het |
Pwwp2b |
T |
C |
7: 138,835,104 (GRCm39) |
C182R |
probably damaging |
Het |
Rcan3 |
T |
C |
4: 135,152,688 (GRCm39) |
D11G |
probably benign |
Het |
Rgsl1 |
C |
A |
1: 153,698,104 (GRCm39) |
W482L |
possibly damaging |
Het |
Sfxn4 |
C |
T |
19: 60,839,458 (GRCm39) |
G200E |
probably damaging |
Het |
Slc4a8 |
T |
C |
15: 100,707,180 (GRCm39) |
I848T |
probably damaging |
Het |
Slc7a13 |
T |
C |
4: 19,839,399 (GRCm39) |
V334A |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,324,210 (GRCm39) |
|
probably benign |
Het |
Spata18 |
A |
T |
5: 73,824,244 (GRCm39) |
I156L |
possibly damaging |
Het |
Spats2 |
T |
C |
15: 99,072,334 (GRCm39) |
|
probably null |
Het |
Tas2r104 |
G |
A |
6: 131,662,095 (GRCm39) |
H205Y |
probably damaging |
Het |
Tcof1 |
A |
G |
18: 60,965,249 (GRCm39) |
|
probably benign |
Het |
Tex15 |
C |
A |
8: 34,061,265 (GRCm39) |
H232N |
probably benign |
Het |
Tg |
A |
T |
15: 66,545,860 (GRCm39) |
Q194L |
probably damaging |
Het |
Tnfrsf22 |
C |
T |
7: 143,198,513 (GRCm39) |
|
probably null |
Het |
Trim25 |
T |
A |
11: 88,907,447 (GRCm39) |
V602E |
probably damaging |
Het |
Ttll9 |
A |
G |
2: 152,824,983 (GRCm39) |
E54G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,559,668 (GRCm39) |
T29578A |
probably damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,480,629 (GRCm39) |
Q960R |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,971,700 (GRCm39) |
I727V |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,801,250 (GRCm39) |
I229F |
probably benign |
Het |
Vmn2r92 |
A |
C |
17: 18,387,654 (GRCm39) |
I220L |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,166,467 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,641,745 (GRCm39) |
Y437N |
probably damaging |
Het |
Zdhhc5 |
A |
G |
2: 84,520,557 (GRCm39) |
I540T |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,743,384 (GRCm39) |
I60M |
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 |
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'- AACTGATCAGTAGAGGCCCG -3'
(R):5'- CATATAGAAGGGTGGAGGCTCC -3'
Sequencing Primer
(F):5'- TCAGTAGAGGCCCGGATGG -3'
(R):5'- TGGAGGCTCCACTTCCC -3'
|
Posted On |
2014-10-15 |