Incidental Mutation 'R8546:Igsf9b'
| ID |
659639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| MMRRC Submission |
068511-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
R8546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27244426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 794
(S794P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117017
(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 |
possibly damaging
Transcript: ENSMUST00000133213
AA Change: S794P
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: S794P
| 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 |
possibly damaging
Transcript: ENSMUST00000214357
AA Change: S798P
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,064,139 (GRCm39) |
S416P |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,236,769 (GRCm39) |
A214E |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,901,083 (GRCm39) |
W971R |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,473,588 (GRCm39) |
R346H |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,630,397 (GRCm39) |
N399S |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,101 (GRCm39) |
D532G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,769 (GRCm39) |
|
probably benign |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,687 (GRCm39) |
R77G |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,158 (GRCm39) |
S625C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,380,099 (GRCm39) |
|
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,206,102 (GRCm39) |
L281P |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,759 (GRCm39) |
|
probably null |
Het |
| Cyb5rl |
T |
A |
4: 106,925,923 (GRCm39) |
V35D |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,015,101 (GRCm39) |
F381S |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,755,208 (GRCm39) |
N991K |
unknown |
Het |
| Eif6 |
A |
G |
2: 155,668,420 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
T |
C |
17: 25,069,057 (GRCm39) |
M7V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,685,795 (GRCm39) |
T160A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,857,825 (GRCm39) |
V2040I |
probably benign |
Het |
| Gjc2 |
G |
T |
11: 59,067,182 (GRCm39) |
D433E |
unknown |
Het |
| H2bc13 |
G |
A |
13: 21,900,042 (GRCm39) |
T91M |
probably damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,264 (GRCm39) |
R377S |
probably benign |
Het |
| Khnyn |
A |
G |
14: 56,123,275 (GRCm39) |
T10A |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,686,242 (GRCm39) |
H389L |
probably damaging |
Het |
| Lin7c |
A |
G |
2: 109,726,716 (GRCm39) |
I122V |
probably null |
Het |
| Lonp1 |
G |
A |
17: 56,933,702 (GRCm39) |
P58S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,027 (GRCm39) |
H142R |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Mettl2 |
T |
A |
11: 105,022,399 (GRCm39) |
N196K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,201 (GRCm39) |
E712G |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,314,419 (GRCm39) |
T465I |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,685 (GRCm39) |
T77S |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,484,841 (GRCm39) |
E340G |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,325,634 (GRCm39) |
S490R |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,393,615 (GRCm39) |
S1981N |
possibly damaging |
Het |
| Poll |
T |
A |
19: 45,546,416 (GRCm39) |
D208V |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,374,284 (GRCm39) |
D64G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,480,899 (GRCm39) |
Y340C |
probably damaging |
Het |
| Prmt6 |
C |
T |
3: 110,158,034 (GRCm39) |
R85Q |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,899,156 (GRCm39) |
K140R |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,124 (GRCm39) |
T61A |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,049,570 (GRCm39) |
D795G |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,235 (GRCm39) |
M472L |
probably benign |
Het |
| Tekt5 |
A |
G |
16: 10,175,877 (GRCm39) |
V556A |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,084,374 (GRCm39) |
I68F |
probably damaging |
Het |
| Tnni3k |
G |
T |
3: 154,498,444 (GRCm39) |
N798K |
probably benign |
Het |
| Tuft1 |
T |
A |
3: 94,529,420 (GRCm39) |
E227D |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,710 (GRCm39) |
K146R |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,259,326 (GRCm39) |
A1616T |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,974,607 (GRCm39) |
K452N |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
A |
7: 11,346,697 (GRCm39) |
H244Q |
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 |
|
|
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 |
|
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 |
|
|
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'- GCAGTGTGGATGTTCATTCC -3'
(R):5'- ACTGATCAGTTCAATGGGTGTG -3'
Sequencing Primer
(F):5'- TCTAGACAATTGAGAGAGTTGGTC -3'
(R):5'- ATCAGTTCAATGGGTGTGGTAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation