Incidental Mutation 'IGL00819:Igsf9'
| ID |
11430 |
| 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 # |
IGL00819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172309355-172326445 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172324203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 789
(S789P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052629]
[ENSMUST00000111228]
[ENSMUST00000111230]
[ENSMUST00000111235]
[ENSMUST00000127482]
[ENSMUST00000135267]
[ENSMUST00000192460]
|
| AlphaFold |
Q05BQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052629
AA Change: S789P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: S789P
| 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: ENSMUST00000111228
|
| SMART Domains |
Protein: ENSMUSP00000106859
Gene: ENSMUSG00000026547
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
26 |
132 |
2.84e-24 |
SMART |
|
Pfam:Calponin
|
174 |
198 |
7e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111230
|
| SMART Domains |
Protein: ENSMUSP00000106861
Gene: ENSMUSG00000026547
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
26 |
132 |
2.84e-24 |
SMART |
|
Pfam:Calponin
|
174 |
199 |
1.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111235
AA Change: S789P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: S789P
| 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: ENSMUST00000127482
|
| SMART Domains |
Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
| 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 |
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: ENSMUST00000141888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192460
|
| SMART Domains |
Protein: ENSMUSP00000141983
Gene: ENSMUSG00000026547
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
27 |
90 |
9.2e-10 |
PFAM |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
T |
3: 96,590,350 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
G |
T |
10: 90,833,202 (GRCm39) |
|
probably null |
Het |
| Ash1l |
T |
A |
3: 88,915,043 (GRCm39) |
V1891E |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,429,831 (GRCm39) |
S402P |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,302,732 (GRCm39) |
N117K |
probably damaging |
Het |
| Ccl7 |
A |
G |
11: 81,937,401 (GRCm39) |
N45S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,364,176 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,902,843 (GRCm39) |
I169T |
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,723,803 (GRCm39) |
V383A |
probably benign |
Het |
| Fbxl2 |
A |
G |
9: 113,813,047 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,305,451 (GRCm39) |
V106D |
possibly damaging |
Het |
| Fsip1 |
C |
A |
2: 118,080,393 (GRCm39) |
R121L |
possibly damaging |
Het |
| Klf7 |
T |
C |
1: 64,081,476 (GRCm39) |
D284G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,822,637 (GRCm39) |
|
probably null |
Het |
| Mef2c |
A |
T |
13: 83,773,499 (GRCm39) |
D125V |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,254 (GRCm39) |
L284S |
probably damaging |
Het |
| Numa1 |
G |
T |
7: 101,641,917 (GRCm39) |
G122W |
possibly damaging |
Het |
| Pcbd1 |
A |
C |
10: 60,927,919 (GRCm39) |
E27A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,908,860 (GRCm39) |
N5056S |
unknown |
Het |
| Pelp1 |
G |
A |
11: 70,285,444 (GRCm39) |
P808L |
unknown |
Het |
| Ppp1r12a |
T |
C |
10: 108,076,682 (GRCm39) |
S304P |
probably damaging |
Het |
| Ppp1r7 |
T |
A |
1: 93,273,978 (GRCm39) |
D51E |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,930 (GRCm39) |
K308E |
probably benign |
Het |
| Rel |
A |
T |
11: 23,693,029 (GRCm39) |
F335I |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,339,660 (GRCm39) |
E153G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,113 (GRCm39) |
Y33H |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Tpra1 |
T |
A |
6: 88,886,318 (GRCm39) |
Y65* |
probably null |
Het |
| Trip12 |
C |
T |
1: 84,731,993 (GRCm39) |
G994S |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,753,183 (GRCm39) |
Y195* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,573,394 (GRCm39) |
I17506T |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,203,593 (GRCm39) |
T4761I |
possibly damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,117 (GRCm39) |
Y249* |
probably null |
Het |
| Zfp212 |
C |
T |
6: 47,908,256 (GRCm39) |
P412S |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,918,090 (GRCm39) |
V52A |
probably benign |
Het |
| Zpbp2 |
A |
T |
11: 98,448,418 (GRCm39) |
H245L |
probably damaging |
Het |
|
| Other mutations in Igsf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation