Incidental Mutation 'R5762:Igsf9'
ID |
446029 |
Institutional Source |
Beutler Lab
|
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 # |
R5762 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
172309355-172326445 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 172326005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1147
(E1147G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052629]
[ENSMUST00000111228]
[ENSMUST00000111230]
[ENSMUST00000111235]
[ENSMUST00000127482]
[ENSMUST00000192460]
|
AlphaFold |
Q05BQ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052629
AA Change: E1147G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058275 Gene: ENSMUSG00000037995 AA Change: E1147G
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 damaging
Transcript: ENSMUST00000111235
AA Change: E1147G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106866 Gene: ENSMUSG00000037995 AA Change: E1147G
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 |
noncoding transcript
Transcript: ENSMUST00000138296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140816
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193620
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,044,445 (GRCm39) |
D148E |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,531,665 (GRCm39) |
I4631V |
probably damaging |
Het |
Adamts16 |
A |
T |
13: 70,886,617 (GRCm39) |
W1058R |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,741,586 (GRCm39) |
I163V |
probably null |
Het |
Ano1 |
T |
A |
7: 144,201,774 (GRCm39) |
Y338F |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,418,521 (GRCm39) |
D603G |
probably damaging |
Het |
Bmp2k |
GGCCCGC |
GGC |
5: 97,235,050 (GRCm39) |
|
probably null |
Het |
Brinp2 |
T |
C |
1: 158,074,156 (GRCm39) |
D655G |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,321 (GRCm39) |
S299P |
probably benign |
Het |
Calhm1 |
T |
A |
19: 47,132,058 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
Cd27 |
A |
G |
6: 125,213,561 (GRCm39) |
F48S |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,844,947 (GRCm39) |
Y41H |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 9,748,394 (GRCm39) |
S701P |
possibly damaging |
Het |
Ctbp2 |
G |
T |
7: 132,597,088 (GRCm39) |
A665D |
probably damaging |
Het |
Ctsd |
C |
A |
7: 141,937,266 (GRCm39) |
G81C |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dpysl4 |
C |
T |
7: 138,671,853 (GRCm39) |
A67V |
probably benign |
Het |
Dst |
C |
T |
1: 34,218,438 (GRCm39) |
T1626I |
probably damaging |
Het |
Etfdh |
A |
C |
3: 79,523,261 (GRCm39) |
D217E |
probably null |
Het |
Far1 |
T |
A |
7: 113,167,396 (GRCm39) |
Y494N |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,990,366 (GRCm39) |
T1110M |
unknown |
Het |
Frmd4a |
G |
T |
2: 4,488,876 (GRCm39) |
D78Y |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,808,260 (GRCm39) |
M1526I |
probably benign |
Het |
Ggn |
C |
T |
7: 28,871,777 (GRCm39) |
P399S |
probably damaging |
Het |
H2ac6 |
C |
T |
13: 23,867,888 (GRCm39) |
G5S |
probably damaging |
Het |
Hap1 |
A |
G |
11: 100,246,600 (GRCm39) |
W102R |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,846,938 (GRCm39) |
S3629R |
possibly damaging |
Het |
Hyal4 |
A |
C |
6: 24,765,861 (GRCm39) |
Y405S |
possibly damaging |
Het |
Ifi204 |
G |
A |
1: 173,580,325 (GRCm39) |
T395I |
probably damaging |
Het |
Inpp5a |
T |
A |
7: 139,118,097 (GRCm39) |
I225N |
possibly damaging |
Het |
Kcnv1 |
T |
C |
15: 44,972,518 (GRCm39) |
K455R |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,515,455 (GRCm39) |
D2796G |
probably benign |
Het |
Ngp |
A |
T |
9: 110,251,401 (GRCm39) |
D143V |
probably benign |
Het |
Nlrp5 |
T |
C |
7: 23,118,264 (GRCm39) |
C663R |
possibly damaging |
Het |
Nup205 |
G |
T |
6: 35,204,615 (GRCm39) |
R1469L |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,207,483 (GRCm39) |
F1512I |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,397,542 (GRCm39) |
S594P |
probably damaging |
Het |
Nxpe2 |
A |
C |
9: 48,230,875 (GRCm39) |
V498G |
probably benign |
Het |
P3h4 |
G |
A |
11: 100,302,677 (GRCm39) |
R320C |
probably damaging |
Het |
Plec |
A |
G |
15: 76,063,455 (GRCm39) |
L2273P |
probably damaging |
Het |
Ppp1r14b |
C |
T |
19: 6,953,951 (GRCm39) |
L100F |
probably damaging |
Het |
Prlhr |
C |
T |
19: 60,455,506 (GRCm39) |
W353* |
probably null |
Het |
Ralgps2 |
C |
T |
1: 156,660,234 (GRCm39) |
|
probably null |
Het |
Rrp12 |
C |
T |
19: 41,868,591 (GRCm39) |
G584D |
possibly damaging |
Het |
Scamp3 |
T |
C |
3: 89,088,504 (GRCm39) |
F237L |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,464,507 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shroom1 |
A |
T |
11: 53,354,818 (GRCm39) |
D246V |
probably benign |
Het |
Snapc4 |
T |
A |
2: 26,268,618 (GRCm39) |
E14D |
probably damaging |
Het |
Spag5 |
A |
T |
11: 78,194,972 (GRCm39) |
Q93L |
probably benign |
Het |
Tcstv5 |
T |
A |
13: 120,411,501 (GRCm39) |
Q35L |
probably benign |
Het |
Tle1 |
C |
T |
4: 72,038,372 (GRCm39) |
|
probably null |
Het |
Ttll10 |
G |
A |
4: 156,119,438 (GRCm39) |
P683S |
possibly damaging |
Het |
Unc13c |
A |
C |
9: 73,719,649 (GRCm39) |
D1006E |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,732,955 (GRCm39) |
K3101N |
possibly damaging |
Het |
Vdac1 |
A |
G |
11: 52,278,280 (GRCm39) |
Y247C |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 63,997,474 (GRCm39) |
V377I |
probably benign |
Het |
Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
Xrcc3 |
C |
T |
12: 111,771,044 (GRCm39) |
R295Q |
probably damaging |
Het |
Zfp780b |
T |
C |
7: 27,664,243 (GRCm39) |
N104S |
probably benign |
Het |
Zkscan17 |
A |
G |
11: 59,378,397 (GRCm39) |
V262A |
possibly 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 |
|
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 |
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'- TCTAAGCTGGCTGTGCTCTC -3'
(R):5'- CAGCTTGGAGCCAAAGTCTTG -3'
Sequencing Primer
(F):5'- CCATGCTCTGAGCTGGTCTG -3'
(R):5'- GGACTCCTTTGCAAATCCATATAAGC -3'
|
Posted On |
2016-11-21 |