Incidental Mutation 'IGL00909:Susd4'
| ID |
26617 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Susd4
|
| Ensembl Gene |
ENSMUSG00000038576 |
| Gene Name |
sushi domain containing 4 |
| Synonyms |
E430021N18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.497)
|
| Stock # |
IGL00909
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
182591609-182724161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 182719552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 389
(A389D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085724]
[ENSMUST00000153348]
|
| AlphaFold |
Q8BH32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085724
AA Change: A389D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082873
Gene: ENSMUSG00000038576
AA Change: A389D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
CCP
|
57 |
117 |
4.59e-10 |
SMART |
|
CCP
|
122 |
177 |
2.58e-4 |
SMART |
|
CCP
|
180 |
237 |
1.06e-14 |
SMART |
|
CCP
|
243 |
302 |
1.3e-9 |
SMART |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153348
AA Change: A389D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119488
Gene: ENSMUSG00000038576
AA Change: A389D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
CCP
|
57 |
117 |
4.59e-10 |
SMART |
|
CCP
|
122 |
177 |
2.58e-4 |
SMART |
|
CCP
|
180 |
237 |
1.06e-14 |
SMART |
|
CCP
|
243 |
302 |
1.3e-9 |
SMART |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,220,250 (GRCm39) |
D94V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,277,694 (GRCm39) |
Y256C |
probably damaging |
Het |
| Ajm1 |
A |
G |
2: 25,469,419 (GRCm39) |
L164P |
probably damaging |
Het |
| Ampd1 |
A |
C |
3: 102,995,744 (GRCm39) |
D218A |
probably benign |
Het |
| Arcn1 |
T |
C |
9: 44,662,651 (GRCm39) |
N332D |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 112,005,191 (GRCm39) |
I219F |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,730,502 (GRCm39) |
D5E |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,833,666 (GRCm39) |
W272G |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,141,005 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
| Col4a2 |
A |
C |
8: 11,498,167 (GRCm39) |
T1659P |
possibly damaging |
Het |
| Coq9 |
C |
T |
8: 95,578,530 (GRCm39) |
L215F |
possibly damaging |
Het |
| Cped1 |
A |
G |
6: 22,122,426 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,430,282 (GRCm39) |
D64V |
probably damaging |
Het |
| Gga3 |
T |
A |
11: 115,482,567 (GRCm39) |
R105W |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,514,620 (GRCm39) |
R3584Q |
probably benign |
Het |
| Hs6st3 |
T |
A |
14: 119,376,446 (GRCm39) |
L207Q |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,208,807 (GRCm39) |
E141G |
probably damaging |
Het |
| Mrps31 |
T |
G |
8: 22,917,841 (GRCm39) |
F287V |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,877,551 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
| Or5p81 |
A |
G |
7: 108,266,907 (GRCm39) |
I95V |
possibly damaging |
Het |
| Pfas |
A |
T |
11: 68,894,640 (GRCm39) |
Y8* |
probably null |
Het |
| Ppip5k1 |
G |
A |
2: 121,177,839 (GRCm39) |
R323W |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,802,872 (GRCm39) |
E376G |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,437,042 (GRCm39) |
L546P |
probably benign |
Het |
| Rheb |
A |
T |
5: 25,012,073 (GRCm39) |
I129N |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,843,303 (GRCm39) |
F52I |
probably damaging |
Het |
| Six2 |
A |
T |
17: 85,995,319 (GRCm39) |
L21Q |
probably damaging |
Het |
| Slit1 |
G |
T |
19: 41,590,694 (GRCm39) |
T1326K |
possibly damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,716 (GRCm39) |
D191G |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,601,510 (GRCm39) |
F850I |
probably damaging |
Het |
| Teddm1b |
T |
C |
1: 153,750,391 (GRCm39) |
S67P |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,439,530 (GRCm39) |
V100D |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,803,067 (GRCm39) |
H390R |
probably benign |
Het |
|
| Other mutations in Susd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Susd4
|
APN |
1 |
182,686,026 (GRCm39) |
splice site |
probably null |
|
|
IGL02505:Susd4
|
APN |
1 |
182,719,645 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0315:Susd4
|
UTSW |
1 |
182,686,077 (GRCm39) |
missense |
probably benign |
|
|
R1668:Susd4
|
UTSW |
1 |
182,686,128 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1704:Susd4
|
UTSW |
1 |
182,681,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Susd4
|
UTSW |
1 |
182,681,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Susd4
|
UTSW |
1 |
182,719,759 (GRCm39) |
missense |
probably benign |
|
|
R3912:Susd4
|
UTSW |
1 |
182,715,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Susd4
|
UTSW |
1 |
182,686,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Susd4
|
UTSW |
1 |
182,719,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5256:Susd4
|
UTSW |
1 |
182,719,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5279:Susd4
|
UTSW |
1 |
182,715,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Susd4
|
UTSW |
1 |
182,719,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6715:Susd4
|
UTSW |
1 |
182,719,602 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7023:Susd4
|
UTSW |
1 |
182,592,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7056:Susd4
|
UTSW |
1 |
182,660,721 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7788:Susd4
|
UTSW |
1 |
182,722,767 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7832:Susd4
|
UTSW |
1 |
182,686,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8075:Susd4
|
UTSW |
1 |
182,592,748 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8683:Susd4
|
UTSW |
1 |
182,719,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9039:Susd4
|
UTSW |
1 |
182,681,597 (GRCm39) |
missense |
probably benign |
|
|
R9267:Susd4
|
UTSW |
1 |
182,716,389 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9437:Susd4
|
UTSW |
1 |
182,681,697 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9474:Susd4
|
UTSW |
1 |
182,719,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9687:Susd4
|
UTSW |
1 |
182,722,762 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation