Incidental Mutation 'IGL01705:Susd1'
| ID |
104581 |
| 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 # |
IGL01705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59314683-59438633 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 59332931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040166]
[ENSMUST00000107544]
|
| AlphaFold |
E9Q3H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040166
|
| SMART Domains |
Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
| 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 |
probably benign
Transcript: ENSMUST00000107544
|
| SMART Domains |
Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
| 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: ENSMUST00000136077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136562
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,038 (GRCm39) |
T1077A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,396,515 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Anks3 |
A |
T |
16: 4,765,587 (GRCm39) |
W172R |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,299,369 (GRCm39) |
N633K |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,883 (GRCm39) |
S326C |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,736 (GRCm39) |
K900E |
possibly damaging |
Het |
| Cd5 |
A |
T |
19: 10,703,659 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,924 (GRCm39) |
N284K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,678,788 (GRCm39) |
A38V |
probably damaging |
Het |
| Eny2 |
C |
A |
15: 44,295,831 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,779,254 (GRCm39) |
Q930R |
possibly damaging |
Het |
| Igkv4-73 |
A |
T |
6: 69,174,709 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,065,270 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,081,042 (GRCm39) |
|
probably null |
Het |
| Neto2 |
T |
C |
8: 86,367,632 (GRCm39) |
K371E |
probably damaging |
Het |
| Or8g52 |
T |
C |
9: 39,630,877 (GRCm39) |
M118T |
possibly damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,813,876 (GRCm39) |
F834L |
probably benign |
Het |
| Paxip1 |
A |
T |
5: 27,953,857 (GRCm39) |
S946R |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,879 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,308,401 (GRCm39) |
L331P |
probably damaging |
Het |
| Reep1 |
A |
G |
6: 71,750,272 (GRCm39) |
T95A |
probably damaging |
Het |
| Rfx2 |
A |
G |
17: 57,092,303 (GRCm39) |
Y332H |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,688,393 (GRCm39) |
D1288E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,930,046 (GRCm39) |
M582V |
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,035,559 (GRCm39) |
L192R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,473 (GRCm39) |
K478R |
probably benign |
Het |
| Tmem115 |
G |
T |
9: 107,412,403 (GRCm39) |
L242F |
probably benign |
Het |
| Tmt1b |
T |
A |
10: 128,794,731 (GRCm39) |
I198F |
probably benign |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,294 (GRCm39) |
D263G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,884 (GRCm39) |
I69F |
probably damaging |
Het |
| Vps52 |
T |
C |
17: 34,185,042 (GRCm39) |
L712P |
probably 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 |
|
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 |
|
IGL02102:Susd1
|
APN |
4 |
59,369,636 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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 |
2014-01-21 |
Incidental Mutation