Incidental Mutation 'R7212:Igsf9b'
| ID |
561152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| MMRRC Submission |
045340-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
R7212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27242992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 726
(P726L)
|
| 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: P722L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: P722L
| 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 |
probably damaging
Transcript: ENSMUST00000214357
AA Change: P726L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
C |
T |
6: 83,138,654 (GRCm39) |
A193V |
probably benign |
Het |
| Aatf |
C |
T |
11: 84,340,006 (GRCm39) |
R435Q |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,854 (GRCm39) |
H2867R |
probably benign |
Het |
| Abcd2 |
C |
T |
15: 91,043,326 (GRCm39) |
A621T |
possibly damaging |
Het |
| Actl11 |
T |
A |
9: 107,805,856 (GRCm39) |
S60T |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,874,846 (GRCm39) |
N277I |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,896,326 (GRCm39) |
C1240S |
probably damaging |
Het |
| Arhgap27 |
C |
T |
11: 103,251,581 (GRCm39) |
R49Q |
probably damaging |
Het |
| Armc10 |
T |
C |
5: 21,865,581 (GRCm39) |
S209P |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,934,783 (GRCm39) |
F617L |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,973,580 (GRCm39) |
N2K |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,102,158 (GRCm39) |
N1363K |
|
Het |
| Cass4 |
T |
A |
2: 172,269,106 (GRCm39) |
L396* |
probably null |
Het |
| Ccdc40 |
A |
G |
11: 119,155,270 (GRCm39) |
Q1170R |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,852,572 (GRCm39) |
R348H |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,109 (GRCm39) |
S647P |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,212,308 (GRCm39) |
S41P |
probably damaging |
Het |
| Chordc1 |
T |
A |
9: 18,206,647 (GRCm39) |
|
probably null |
Het |
| Ckm |
T |
C |
7: 19,148,978 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,711,727 (GRCm39) |
I756S |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,268,323 (GRCm39) |
V165A |
possibly damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,968,704 (GRCm39) |
|
probably null |
Het |
| Cog7 |
T |
C |
7: 121,576,537 (GRCm39) |
K130E |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,271 (GRCm39) |
I259T |
unknown |
Het |
| Cp |
T |
C |
3: 20,029,130 (GRCm39) |
S536P |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,447 (GRCm39) |
|
probably null |
Het |
| Dcst2 |
A |
G |
3: 89,273,607 (GRCm39) |
I162V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,721,228 (GRCm39) |
E630G |
probably damaging |
Het |
| Dpt |
A |
T |
1: 164,624,484 (GRCm39) |
I62F |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,444 (GRCm39) |
I157F |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 53,208,558 (GRCm39) |
W68R |
probably benign |
Het |
| Fgf4 |
A |
G |
7: 144,416,523 (GRCm39) |
K152E |
probably benign |
Het |
| G530012D18Rik |
A |
T |
1: 85,504,864 (GRCm39) |
T90S |
unknown |
Het |
| Galnt17 |
T |
C |
5: 130,992,949 (GRCm39) |
T322A |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 77,966,925 (GRCm39) |
D48V |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm49358 |
G |
T |
10: 86,661,071 (GRCm39) |
R353L |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,365,908 (GRCm39) |
E320G |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,758 (GRCm39) |
I1002T |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,111,845 (GRCm39) |
V7E |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,684,926 (GRCm39) |
Q230* |
probably null |
Het |
| Itgb6 |
T |
C |
2: 60,464,998 (GRCm39) |
I345V |
probably damaging |
Het |
| Lhx4 |
G |
T |
1: 155,600,699 (GRCm39) |
Q29K |
probably benign |
Het |
| Manba |
A |
G |
3: 135,273,396 (GRCm39) |
T777A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,337,145 (GRCm39) |
D1360G |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mmp14 |
T |
G |
14: 54,673,336 (GRCm39) |
D81E |
probably damaging |
Het |
| Naalad2 |
T |
C |
9: 18,275,337 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or7a38 |
A |
T |
10: 78,753,339 (GRCm39) |
I222L |
possibly damaging |
Het |
| Or8b35 |
T |
A |
9: 37,904,253 (GRCm39) |
M150K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,025,312 (GRCm39) |
D488G |
possibly damaging |
Het |
| Prr5 |
T |
G |
15: 84,629,993 (GRCm39) |
L108R |
probably null |
Het |
| Psg23 |
A |
G |
7: 18,341,064 (GRCm39) |
S397P |
probably benign |
Het |
| Rfpl4 |
C |
A |
7: 5,113,659 (GRCm39) |
R174L |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,880,090 (GRCm39) |
I3N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,451 (GRCm39) |
N214K |
possibly damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,037,092 (GRCm39) |
I412T |
probably damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,116,210 (GRCm39) |
T530P |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,060,854 (GRCm39) |
R95* |
probably null |
Het |
| Tex15 |
T |
C |
8: 34,063,023 (GRCm39) |
S818P |
probably damaging |
Het |
| Tmod1 |
A |
T |
4: 46,093,951 (GRCm39) |
K221* |
probably null |
Het |
| Tpm3 |
G |
A |
3: 89,998,361 (GRCm39) |
D272N |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,131 (GRCm39) |
C512S |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,268 (GRCm39) |
E417V |
probably benign |
Het |
| Wfdc11 |
T |
C |
2: 164,506,366 (GRCm39) |
N60S |
probably benign |
Het |
| Zfp217 |
A |
T |
2: 169,956,072 (GRCm39) |
S975R |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,309 (GRCm39) |
Q287* |
probably null |
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 |
|
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'- AACTCAGTGTGGAAGCCAGG -3'
(R):5'- CAATCCTACTGGCAGCTCTGTC -3'
Sequencing Primer
(F):5'- GCCCTAGCCTTGTCTGATGG -3'
(R):5'- AATACAGTCAGTGGCCTGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation