Incidental Mutation 'IGL01808:Igsf9'
| ID |
155738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igsf9
|
| Ensembl Gene |
ENSMUSG00000037995 |
| Gene Name |
immunoglobulin superfamily, member 9 |
| Synonyms |
NRT1, Dasm1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172309355-172326445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172312370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 27
(V27A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052629]
[ENSMUST00000111235]
[ENSMUST00000127052]
[ENSMUST00000127482]
[ENSMUST00000135267]
|
| AlphaFold |
Q05BQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052629
AA Change: V27A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: V27A
| 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 benign
Transcript: ENSMUST00000111235
AA Change: V27A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: V27A
| 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 benign
Transcript: ENSMUST00000127052
AA Change: V27A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123401
Gene: ENSMUSG00000037995
AA Change: V27A
| 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 benign
Transcript: ENSMUST00000127482
AA Change: V27A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
AA Change: V27A
| 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 benign
Transcript: ENSMUST00000135267
|
| SMART Domains |
Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
| 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: ENSMUST00000140814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ager |
A |
T |
17: 34,818,431 (GRCm39) |
Q266L |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,034 (GRCm39) |
|
probably benign |
Het |
| Ebf2 |
C |
T |
14: 67,651,932 (GRCm39) |
A488V |
probably benign |
Het |
| Gm5885 |
A |
T |
6: 133,508,181 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,140,490 (GRCm39) |
S220P |
probably damaging |
Het |
| Gpr171 |
G |
A |
3: 59,005,572 (GRCm39) |
P68S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,246 (GRCm39) |
I63T |
possibly damaging |
Het |
| H2-M9 |
A |
T |
17: 36,952,711 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
G |
T |
11: 105,914,753 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,853,650 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
A |
11: 97,563,310 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,447,404 (GRCm39) |
I352T |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,714,212 (GRCm39) |
D509G |
probably benign |
Het |
| Ncan |
C |
T |
8: 70,560,090 (GRCm39) |
|
probably null |
Het |
| Or51aa2 |
T |
A |
7: 103,187,781 (GRCm39) |
Y220F |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,067 (GRCm39) |
V459A |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 140,840,879 (GRCm39) |
P1274Q |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,645,205 (GRCm39) |
L1125P |
probably damaging |
Het |
| Synpo |
T |
C |
18: 60,735,280 (GRCm39) |
I650V |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,552,519 (GRCm39) |
R86H |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,473,414 (GRCm39) |
V501A |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,717 (GRCm39) |
I166T |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,650 (GRCm39) |
C933R |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,615,184 (GRCm39) |
F342Y |
probably damaging |
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 |
|
|
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 |
|
R5016:Igsf9
|
UTSW |
1 |
172,318,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation