Incidental Mutation 'IGL03014:Igsf9b'
| ID |
453320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
AI414108, LOC235086 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.529)
|
| Stock # |
IGL03014 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27233932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 377
(M377T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
| AlphaFold |
E9PZ19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115247
AA Change: M377T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: M377T
| 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 benign
Transcript: ENSMUST00000133213
AA Change: M377T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: M377T
| 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 benign
Transcript: ENSMUST00000214357
AA Change: M377T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| AW112010 |
A |
G |
19: 11,025,456 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc134 |
T |
C |
15: 82,014,306 (GRCm39) |
L13P |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,329,861 (GRCm39) |
V395F |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,331 (GRCm39) |
S730* |
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,431,608 (GRCm38) |
*675Q |
probably null |
Het |
| Chrng |
G |
T |
1: 87,138,759 (GRCm39) |
|
probably null |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
T |
4: 128,190,222 (GRCm39) |
M387I |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,594,379 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 25,042,075 (GRCm39) |
P335S |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,351 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,838,739 (GRCm39) |
M292K |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,876,218 (GRCm39) |
Y461C |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,242,901 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,420,393 (GRCm39) |
Y1010F |
probably damaging |
Het |
| Igha |
A |
G |
12: 113,222,713 (GRCm39) |
V236A |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,457,212 (GRCm39) |
T108A |
probably benign |
Het |
| Kcna3 |
A |
T |
3: 106,945,206 (GRCm39) |
M490L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,673,024 (GRCm39) |
Y886F |
possibly damaging |
Het |
| Lcorl |
T |
C |
5: 45,931,371 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Odr4 |
C |
A |
1: 150,258,804 (GRCm39) |
|
probably benign |
Het |
| Or1a1b |
G |
A |
11: 74,097,653 (GRCm39) |
L130F |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,362,753 (GRCm39) |
V289E |
probably null |
Het |
| Pex10 |
A |
G |
4: 155,155,076 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,918,029 (GRCm39) |
V943M |
possibly damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,294 (GRCm39) |
T164S |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,308 (GRCm39) |
L910Q |
probably damaging |
Het |
| Rab1b |
T |
C |
19: 5,154,923 (GRCm39) |
I41V |
probably benign |
Het |
| Scpep1 |
T |
A |
11: 88,824,271 (GRCm39) |
|
probably null |
Het |
| Sergef |
T |
C |
7: 46,240,180 (GRCm39) |
T288A |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,248,726 (GRCm39) |
P397S |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,029,423 (GRCm39) |
D230E |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,002,539 (GRCm39) |
|
probably benign |
Het |
| Smad5 |
T |
C |
13: 56,883,754 (GRCm39) |
L380P |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,532,675 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,500 (GRCm39) |
D346G |
probably benign |
Het |
| Trav7d-4 |
T |
A |
14: 53,007,353 (GRCm39) |
W12R |
unknown |
Het |
| Trmt1l |
G |
T |
1: 151,333,681 (GRCm39) |
W728L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,458,198 (GRCm39) |
T559K |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,711 (GRCm39) |
I246F |
possibly damaging |
Het |
| Zfp618 |
A |
T |
4: 62,998,325 (GRCm39) |
Q109L |
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 |
|
|
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 |
|
|
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'- CAACGATCTGGCAGGAGTTTG -3'
(R):5'- GTCCTAATGGAAGCACAGAGAC -3'
Sequencing Primer
(F):5'- TGGCTGTGCTCCATGCC -3'
(R):5'- ACAGGTATAAAAGGTTGGCCAC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation