Incidental Mutation 'R4357:Igsf9b'
ID |
324616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf9b
|
Ensembl Gene |
ENSMUSG00000034275 |
Gene Name |
immunoglobulin superfamily, member 9B |
Synonyms |
AI414108, LOC235086 |
MMRRC Submission |
041109-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.529)
|
Stock # |
R4357 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 27220774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 47
(V47I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
AlphaFold |
E9PZ19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115247
AA Change: V47I
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110902 Gene: ENSMUSG00000034275 AA Change: V47I
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: V47I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117017 Gene: ENSMUSG00000034275 AA Change: V47I
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 |
possibly damaging
Transcript: ENSMUST00000214357
AA Change: V47I
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
A |
G |
8: 41,248,084 (GRCm39) |
T65A |
possibly damaging |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Ap4m1 |
A |
G |
5: 138,171,311 (GRCm39) |
E125G |
probably damaging |
Het |
Atp13a2 |
C |
A |
4: 140,729,215 (GRCm39) |
D599E |
probably benign |
Het |
Brme1 |
T |
C |
8: 84,886,221 (GRCm39) |
L59P |
probably benign |
Het |
Camkv |
G |
A |
9: 107,825,145 (GRCm39) |
G354E |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,646,150 (GRCm39) |
M1741K |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,938,106 (GRCm39) |
D119G |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,775,595 (GRCm39) |
D42V |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,084 (GRCm39) |
I209V |
probably benign |
Het |
Defa27 |
A |
T |
8: 21,805,608 (GRCm39) |
Q16L |
probably null |
Het |
Dnaja3 |
T |
C |
16: 4,517,731 (GRCm39) |
I321T |
probably damaging |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Eif2ak3 |
T |
A |
6: 70,861,859 (GRCm39) |
I467N |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,089,339 (GRCm39) |
V1105E |
probably damaging |
Het |
Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
Gm10803 |
A |
G |
2: 93,394,350 (GRCm39) |
R41G |
unknown |
Het |
Gm38392 |
A |
T |
3: 88,154,741 (GRCm39) |
I221N |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hsd17b6 |
G |
T |
10: 127,829,637 (GRCm39) |
|
probably null |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Lats2 |
A |
G |
14: 57,936,840 (GRCm39) |
S550P |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,125,091 (GRCm39) |
R406G |
probably null |
Het |
Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,028,755 (GRCm39) |
E326G |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,055,174 (GRCm39) |
I1969N |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Ngf |
A |
G |
3: 102,427,521 (GRCm39) |
E94G |
probably benign |
Het |
Oas2 |
C |
T |
5: 120,876,734 (GRCm39) |
|
probably null |
Het |
Odf2 |
A |
G |
2: 29,782,256 (GRCm39) |
T75A |
probably benign |
Het |
Or4f60 |
A |
G |
2: 111,902,583 (GRCm39) |
L115P |
probably damaging |
Het |
Or5w11 |
T |
A |
2: 87,458,810 (GRCm39) |
M1K |
probably null |
Het |
Pi4ka |
T |
A |
16: 17,185,303 (GRCm39) |
I266F |
probably benign |
Het |
Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
Psmd2 |
T |
G |
16: 20,475,402 (GRCm39) |
D393E |
probably benign |
Het |
Rabep2 |
A |
G |
7: 126,047,397 (GRCm39) |
I753T |
probably damaging |
Het |
Rara |
A |
C |
11: 98,858,937 (GRCm39) |
I129L |
probably damaging |
Het |
Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Spmip4 |
T |
C |
6: 50,551,190 (GRCm39) |
T420A |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sptlc1 |
A |
T |
13: 53,528,068 (GRCm39) |
I32K |
probably damaging |
Het |
Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
Ssrp1 |
A |
T |
2: 84,871,495 (GRCm39) |
M306L |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,919,497 (GRCm39) |
E817G |
probably benign |
Het |
Tiam2 |
C |
A |
17: 3,501,128 (GRCm39) |
D922E |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Ttll12 |
A |
T |
15: 83,465,958 (GRCm39) |
C413S |
probably damaging |
Het |
Usp45 |
T |
A |
4: 21,834,350 (GRCm39) |
Y809* |
probably null |
Het |
Vmn2r59 |
G |
A |
7: 41,661,644 (GRCm39) |
P724S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
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'- CATAAGAGATGGGTGTCCTGG -3'
(R):5'- AACACAGTCAAAACCTGGGG -3'
Sequencing Primer
(F):5'- GTCCTGGGTGTACTAGGGAC -3'
(R):5'- TACTCAGGGTCCACATGT -3'
|
Posted On |
2015-06-24 |