Incidental Mutation 'R6510:Igsf9'
| ID |
519877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9
|
| Ensembl Gene |
ENSMUSG00000037995 |
| Gene Name |
immunoglobulin superfamily, member 9 |
| Synonyms |
NRT1, Dasm1 |
| MMRRC Submission |
044423-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172309355-172326445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 172317864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 74
(Q74E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052629]
[ENSMUST00000111235]
[ENSMUST00000127052]
[ENSMUST00000127482]
[ENSMUST00000135267]
|
| AlphaFold |
Q05BQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052629
AA Change: Q137E
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: Q137E
| 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: Q137E
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: Q137E
| 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 benign
Transcript: ENSMUST00000127482
AA Change: Q137E
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
AA Change: Q137E
| 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 |
possibly damaging
Transcript: ENSMUST00000135267
AA Change: Q74E
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
AA Change: Q74E
| 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: ENSMUST00000155426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193620
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.6%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,770,645 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,707,609 (GRCm39) |
T1266A |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,743 (GRCm39) |
N1758S |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,482 (GRCm39) |
E182D |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,662,217 (GRCm39) |
D77G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,861 (GRCm39) |
D108G |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,335 (GRCm39) |
F452S |
unknown |
Het |
| Gas2 |
T |
C |
7: 51,593,460 (GRCm39) |
L180P |
probably damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,685 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,845,131 (GRCm39) |
D217V |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 115,009,816 (GRCm39) |
F380I |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,962,629 (GRCm39) |
V128A |
possibly damaging |
Het |
| Mmp20 |
T |
A |
9: 7,643,967 (GRCm39) |
N218K |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,489,772 (GRCm39) |
K73* |
probably null |
Het |
| Or4c103 |
C |
T |
2: 88,513,302 (GRCm39) |
R258H |
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,581,018 (GRCm39) |
C11S |
probably null |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,159,875 (GRCm39) |
D297G |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,854,058 (GRCm39) |
L137Q |
probably benign |
Het |
| Treml4 |
A |
G |
17: 48,581,472 (GRCm39) |
D249G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,115 (GRCm39) |
C116R |
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 |
|
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 |
|
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'- AGCCTGTGTTCAGCTGTAGC -3'
(R):5'- TCCTGTTTGGTCAGCCTCAG -3'
Sequencing Primer
(F):5'- CAGCTGTAGCAGTGTTGGGATG -3'
(R):5'- TCAGACCCTGCAGTTCCAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation