Incidental Mutation 'R5016:Igsf9'
| ID |
385556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9
|
| Ensembl Gene |
ENSMUSG00000037995 |
| Gene Name |
immunoglobulin superfamily, member 9 |
| Synonyms |
NRT1, Dasm1 |
| MMRRC Submission |
042607-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172309355-172326445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 172318279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 140
(T140P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052629]
[ENSMUST00000111235]
[ENSMUST00000127052]
[ENSMUST00000127482]
[ENSMUST00000135267]
|
| AlphaFold |
Q05BQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052629
AA Change: T205P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: T205P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
FN3
|
508 |
593 |
1.82e-4 |
SMART |
|
FN3
|
624 |
705 |
7.01e-6 |
SMART |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111235
AA Change: T205P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: T205P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
FN3
|
508 |
593 |
1.82e-4 |
SMART |
|
FN3
|
624 |
705 |
7.01e-6 |
SMART |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127052
|
| SMART Domains |
Protein: ENSMUSP00000123401
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Blast:IG
|
26 |
109 |
6e-55 |
BLAST |
|
SCOP:d1biha2
|
28 |
108 |
6e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127482
AA Change: T205P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
AA Change: T205P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132141
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135267
AA Change: T140P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
AA Change: T140P
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
4 |
68 |
3.29e1 |
SMART |
|
IGc2
|
86 |
148 |
3.03e-12 |
SMART |
|
low complexity region
|
156 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193620
|
| Meta Mutation Damage Score |
0.5391 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but show abnormal miniature inhibitory postsynaptic currents and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
| Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
| Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
| Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
| Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
| Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
| Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
| Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
| Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
| Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
| St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
| Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
probably benign |
Het |
|
| Other mutations in Igsf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Igsf9
|
APN |
1 |
172,324,203 (GRCm39) |
missense |
probably benign |
|
|
IGL01665:Igsf9
|
APN |
1 |
172,319,738 (GRCm39) |
nonsense |
probably null |
|
|
IGL01808:Igsf9
|
APN |
1 |
172,312,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02480:Igsf9
|
APN |
1 |
172,312,345 (GRCm39) |
intron |
probably benign |
|
|
IGL02480:Igsf9
|
APN |
1 |
172,324,480 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03087:Igsf9
|
APN |
1 |
172,318,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
degree
|
UTSW |
1 |
172,319,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
G1citation:Igsf9
|
UTSW |
1 |
172,324,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1258:Igsf9
|
UTSW |
1 |
172,319,722 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1419:Igsf9
|
UTSW |
1 |
172,325,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2246:Igsf9
|
UTSW |
1 |
172,319,216 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2427:Igsf9
|
UTSW |
1 |
172,318,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3900:Igsf9
|
UTSW |
1 |
172,317,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Igsf9
|
UTSW |
1 |
172,321,779 (GRCm39) |
nonsense |
probably null |
|
|
R4831:Igsf9
|
UTSW |
1 |
172,319,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Igsf9
|
UTSW |
1 |
172,324,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4894:Igsf9
|
UTSW |
1 |
172,325,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5358:Igsf9
|
UTSW |
1 |
172,312,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5705:Igsf9
|
UTSW |
1 |
172,322,338 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5762:Igsf9
|
UTSW |
1 |
172,326,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Igsf9
|
UTSW |
1 |
172,312,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Igsf9
|
UTSW |
1 |
172,317,864 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6821:Igsf9
|
UTSW |
1 |
172,312,060 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6822:Igsf9
|
UTSW |
1 |
172,324,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6829:Igsf9
|
UTSW |
1 |
172,323,241 (GRCm39) |
missense |
probably benign |
|
|
R6848:Igsf9
|
UTSW |
1 |
172,323,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Igsf9
|
UTSW |
1 |
172,322,096 (GRCm39) |
missense |
probably benign |
|
|
R7224:Igsf9
|
UTSW |
1 |
172,322,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Igsf9
|
UTSW |
1 |
172,324,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7292:Igsf9
|
UTSW |
1 |
172,319,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7409:Igsf9
|
UTSW |
1 |
172,322,841 (GRCm39) |
missense |
probably benign |
|
|
R7744:Igsf9
|
UTSW |
1 |
172,319,752 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7826:Igsf9
|
UTSW |
1 |
172,319,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7893:Igsf9
|
UTSW |
1 |
172,324,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Igsf9
|
UTSW |
1 |
172,312,033 (GRCm39) |
start gained |
probably benign |
|
|
R9037:Igsf9
|
UTSW |
1 |
172,312,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9527:Igsf9
|
UTSW |
1 |
172,323,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Igsf9
|
UTSW |
1 |
172,317,960 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Igsf9
|
UTSW |
1 |
172,322,793 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1176:Igsf9
|
UTSW |
1 |
172,319,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Igsf9
|
UTSW |
1 |
172,322,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGTTTTCCATCGGCTTC -3'
(R):5'- ATGCACTGCTGGGCACTAAG -3'
Sequencing Primer
(F):5'- TTCCCCGAGGTTGAGGC -3'
(R):5'- CTACAGGGGTCCCTCAAATATG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation