Incidental Mutation 'IGL02102:Susd1'
ID |
279802 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Susd1
|
Ensembl Gene |
ENSMUSG00000038578 |
Gene Name |
sushi domain containing 1 |
Synonyms |
Gm12528 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02102
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
59314683-59438633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59369636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 344
(D344E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040166]
[ENSMUST00000107544]
|
AlphaFold |
E9Q3H4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040166
AA Change: D397E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000048201 Gene: ENSMUSG00000038578 AA Change: D397E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
EGF
|
43 |
77 |
1.36e1 |
SMART |
EGF_CA
|
78 |
129 |
2.92e-7 |
SMART |
EGF_CA
|
130 |
180 |
2.22e-12 |
SMART |
CCP
|
184 |
239 |
7.87e-9 |
SMART |
CCP
|
244 |
299 |
5.48e-8 |
SMART |
Blast:FN3
|
306 |
379 |
2e-6 |
BLAST |
Blast:FN3
|
459 |
580 |
8e-50 |
BLAST |
transmembrane domain
|
729 |
751 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107544
AA Change: D344E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103168 Gene: ENSMUSG00000038578 AA Change: D344E
Domain | Start | End | E-Value | Type |
EGF
|
28 |
76 |
2.02e-1 |
SMART |
EGF_CA
|
77 |
127 |
2.22e-12 |
SMART |
CCP
|
131 |
186 |
7.87e-9 |
SMART |
CCP
|
191 |
246 |
5.48e-8 |
SMART |
Blast:FN3
|
253 |
326 |
2e-6 |
BLAST |
Blast:FN3
|
406 |
527 |
4e-50 |
BLAST |
transmembrane domain
|
676 |
698 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117967
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly damaging |
Het |
|
Other mutations in Susd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Susd1
|
APN |
4 |
59,365,817 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01705:Susd1
|
APN |
4 |
59,332,931 (GRCm39) |
splice site |
probably benign |
|
IGL01727:Susd1
|
APN |
4 |
59,412,329 (GRCm39) |
splice site |
probably benign |
|
IGL02015:Susd1
|
APN |
4 |
59,315,745 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02351:Susd1
|
APN |
4 |
59,427,985 (GRCm39) |
nonsense |
probably null |
|
IGL02358:Susd1
|
APN |
4 |
59,427,985 (GRCm39) |
nonsense |
probably null |
|
IGL03210:Susd1
|
APN |
4 |
59,333,035 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03258:Susd1
|
APN |
4 |
59,379,655 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0612:Susd1
|
UTSW |
4 |
59,390,561 (GRCm39) |
splice site |
probably benign |
|
R0719:Susd1
|
UTSW |
4 |
59,329,506 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0722:Susd1
|
UTSW |
4 |
59,379,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1355:Susd1
|
UTSW |
4 |
59,424,114 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1672:Susd1
|
UTSW |
4 |
59,411,395 (GRCm39) |
missense |
probably damaging |
0.98 |
R1677:Susd1
|
UTSW |
4 |
59,424,089 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1921:Susd1
|
UTSW |
4 |
59,412,191 (GRCm39) |
missense |
probably benign |
0.03 |
R1933:Susd1
|
UTSW |
4 |
59,351,695 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1998:Susd1
|
UTSW |
4 |
59,349,925 (GRCm39) |
missense |
probably benign |
0.03 |
R2202:Susd1
|
UTSW |
4 |
59,349,843 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2203:Susd1
|
UTSW |
4 |
59,349,843 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2204:Susd1
|
UTSW |
4 |
59,349,843 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2329:Susd1
|
UTSW |
4 |
59,379,715 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2510:Susd1
|
UTSW |
4 |
59,349,855 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4512:Susd1
|
UTSW |
4 |
59,329,491 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4732:Susd1
|
UTSW |
4 |
59,428,029 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4733:Susd1
|
UTSW |
4 |
59,428,029 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4969:Susd1
|
UTSW |
4 |
59,351,679 (GRCm39) |
missense |
probably benign |
0.04 |
R5121:Susd1
|
UTSW |
4 |
59,379,657 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5548:Susd1
|
UTSW |
4 |
59,369,577 (GRCm39) |
missense |
probably benign |
0.05 |
R5747:Susd1
|
UTSW |
4 |
59,424,108 (GRCm39) |
missense |
probably damaging |
0.98 |
R5776:Susd1
|
UTSW |
4 |
59,315,363 (GRCm39) |
utr 3 prime |
probably benign |
|
R5875:Susd1
|
UTSW |
4 |
59,412,203 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6056:Susd1
|
UTSW |
4 |
59,379,687 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6081:Susd1
|
UTSW |
4 |
59,411,359 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7018:Susd1
|
UTSW |
4 |
59,390,627 (GRCm39) |
missense |
probably benign |
0.44 |
R7122:Susd1
|
UTSW |
4 |
59,411,318 (GRCm39) |
nonsense |
probably null |
|
R7161:Susd1
|
UTSW |
4 |
59,329,581 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7172:Susd1
|
UTSW |
4 |
59,315,420 (GRCm39) |
splice site |
probably null |
|
R7891:Susd1
|
UTSW |
4 |
59,349,915 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8103:Susd1
|
UTSW |
4 |
59,365,916 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8299:Susd1
|
UTSW |
4 |
59,315,773 (GRCm39) |
missense |
probably benign |
0.33 |
R8472:Susd1
|
UTSW |
4 |
59,332,985 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8831:Susd1
|
UTSW |
4 |
59,379,594 (GRCm39) |
splice site |
probably benign |
|
R8903:Susd1
|
UTSW |
4 |
59,390,576 (GRCm39) |
missense |
probably benign |
0.02 |
R8981:Susd1
|
UTSW |
4 |
59,380,883 (GRCm39) |
missense |
probably benign |
0.07 |
R9002:Susd1
|
UTSW |
4 |
59,324,882 (GRCm39) |
missense |
probably benign |
0.00 |
R9091:Susd1
|
UTSW |
4 |
59,412,226 (GRCm39) |
missense |
probably benign |
0.44 |
R9270:Susd1
|
UTSW |
4 |
59,412,226 (GRCm39) |
missense |
probably benign |
0.44 |
R9296:Susd1
|
UTSW |
4 |
59,427,865 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-04-16 |