Incidental Mutation 'IGL02351:Susd1'
| ID |
289449 |
| 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: 0.104)
|
| Stock # |
IGL02351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59314683-59438633 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 59427985 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 66
(Y66*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040166]
[ENSMUST00000107544]
|
| AlphaFold |
E9Q3H4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040166
AA Change: Y66*
|
| SMART Domains |
Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: Y66*
| 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 |
unknown
Transcript: ENSMUST00000107544
AA Change: W15R
|
| SMART Domains |
Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: W15R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,654,055 (GRCm38) |
T448A |
possibly damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,156,873 (GRCm38) |
|
probably null |
Het |
| Adgra3 |
A |
G |
5: 50,058,558 (GRCm38) |
V73A |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,352,850 (GRCm38) |
|
probably benign |
Het |
| Aktip |
C |
T |
8: 91,126,892 (GRCm38) |
V96I |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,522,176 (GRCm38) |
I258T |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,244,306 (GRCm38) |
T1428I |
probably damaging |
Het |
| C3ar1 |
A |
T |
6: 122,849,975 (GRCm38) |
Y428N |
probably damaging |
Het |
| C87499 |
A |
T |
4: 88,627,890 (GRCm38) |
I405N |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,965,767 (GRCm38) |
P294S |
probably damaging |
Het |
| Cbwd1 |
A |
T |
19: 24,931,662 (GRCm38) |
|
probably null |
Het |
| Cenpq |
A |
G |
17: 40,924,332 (GRCm38) |
L213P |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,539,188 (GRCm38) |
|
probably null |
Het |
| Cln6 |
A |
G |
9: 62,847,125 (GRCm38) |
I150V |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,160,935 (GRCm38) |
T94A |
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,617,417 (GRCm38) |
M345T |
probably damaging |
Het |
| Dapk2 |
T |
A |
9: 66,246,523 (GRCm38) |
I187N |
probably damaging |
Het |
| Dkk2 |
A |
G |
3: 132,177,912 (GRCm38) |
D191G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,767,811 (GRCm38) |
F3145I |
probably damaging |
Het |
| Dock1 |
A |
C |
7: 135,108,819 (GRCm38) |
D1190A |
possibly damaging |
Het |
| Ehhadh |
T |
A |
16: 21,762,870 (GRCm38) |
L457F |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,853,683 (GRCm38) |
L552P |
probably damaging |
Het |
| Ghrhr |
T |
G |
6: 55,384,153 (GRCm38) |
I284S |
probably damaging |
Het |
| Gm10288 |
A |
T |
3: 146,839,199 (GRCm38) |
|
noncoding transcript |
Het |
| Gp6 |
T |
G |
7: 4,394,508 (GRCm38) |
I19L |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,456,206 (GRCm38) |
S698L |
possibly damaging |
Het |
| Ifng |
A |
T |
10: 118,442,505 (GRCm38) |
I53F |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 142,147,016 (GRCm38) |
|
probably null |
Het |
| Khk |
A |
T |
5: 30,928,504 (GRCm38) |
I136F |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,627,366 (GRCm38) |
N98Y |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,488,942 (GRCm38) |
|
probably null |
Het |
| Lta4h |
A |
T |
10: 93,478,467 (GRCm38) |
N467I |
probably benign |
Het |
| Mcmbp |
C |
A |
7: 128,709,781 (GRCm38) |
|
probably null |
Het |
| Me2 |
A |
T |
18: 73,797,967 (GRCm38) |
I85K |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,750,986 (GRCm38) |
T288I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,799,912 (GRCm38) |
Y525N |
probably damaging |
Het |
| Nt5e |
G |
A |
9: 88,327,893 (GRCm38) |
V70M |
probably damaging |
Het |
| Olfr677 |
G |
A |
7: 105,056,975 (GRCm38) |
G243D |
probably damaging |
Het |
| Olfr827 |
T |
G |
10: 130,210,734 (GRCm38) |
Y132S |
probably damaging |
Het |
| Olfr883 |
A |
T |
9: 38,026,036 (GRCm38) |
I77L |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 109,646,497 (GRCm38) |
|
probably benign |
Het |
| Ppm1d |
A |
T |
11: 85,345,715 (GRCm38) |
E440V |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,731,589 (GRCm38) |
E1047D |
probably damaging |
Het |
| Rwdd2b |
G |
A |
16: 87,437,448 (GRCm38) |
A18V |
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,102,125 (GRCm38) |
K148N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,146,964 (GRCm38) |
K1154E |
probably benign |
Het |
| Skap1 |
T |
A |
11: 96,708,556 (GRCm38) |
|
probably null |
Het |
| Spcs2 |
T |
C |
7: 99,849,034 (GRCm38) |
K81R |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,250,907 (GRCm38) |
M646L |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,818,626 (GRCm38) |
T1169A |
probably benign |
Het |
| Trim34a |
T |
A |
7: 104,261,234 (GRCm38) |
C414* |
probably null |
Het |
| Trim58 |
G |
A |
11: 58,651,350 (GRCm38) |
G379S |
probably damaging |
Het |
| Vmn2r50 |
T |
A |
7: 10,053,075 (GRCm38) |
Q35L |
probably benign |
Het |
| Zfp418 |
T |
C |
7: 7,174,691 (GRCm38) |
|
probably benign |
Het |
| Zfp57 |
G |
A |
17: 37,010,027 (GRCm38) |
V258I |
probably benign |
Het |
|
| Other mutations in Susd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01630:Susd1
|
APN |
4 |
59,365,817 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL01705:Susd1
|
APN |
4 |
59,332,931 (GRCm38) |
splice site |
probably benign |
|
|
IGL01727:Susd1
|
APN |
4 |
59,412,329 (GRCm38) |
splice site |
probably benign |
|
|
IGL02015:Susd1
|
APN |
4 |
59,315,745 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02102:Susd1
|
APN |
4 |
59,369,636 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02358:Susd1
|
APN |
4 |
59,427,985 (GRCm38) |
nonsense |
probably null |
|
|
IGL03210:Susd1
|
APN |
4 |
59,333,035 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL03258:Susd1
|
APN |
4 |
59,379,655 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0612:Susd1
|
UTSW |
4 |
59,390,561 (GRCm38) |
splice site |
probably benign |
|
|
R0719:Susd1
|
UTSW |
4 |
59,329,506 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R0722:Susd1
|
UTSW |
4 |
59,379,749 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1355:Susd1
|
UTSW |
4 |
59,424,114 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1672:Susd1
|
UTSW |
4 |
59,411,395 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1677:Susd1
|
UTSW |
4 |
59,424,089 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1921:Susd1
|
UTSW |
4 |
59,412,191 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1933:Susd1
|
UTSW |
4 |
59,351,695 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1998:Susd1
|
UTSW |
4 |
59,349,925 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2202:Susd1
|
UTSW |
4 |
59,349,843 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2203:Susd1
|
UTSW |
4 |
59,349,843 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2204:Susd1
|
UTSW |
4 |
59,349,843 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2329:Susd1
|
UTSW |
4 |
59,379,715 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2510:Susd1
|
UTSW |
4 |
59,349,855 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4512:Susd1
|
UTSW |
4 |
59,329,491 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4732:Susd1
|
UTSW |
4 |
59,428,029 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4733:Susd1
|
UTSW |
4 |
59,428,029 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4969:Susd1
|
UTSW |
4 |
59,351,679 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5121:Susd1
|
UTSW |
4 |
59,379,657 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5548:Susd1
|
UTSW |
4 |
59,369,577 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5747:Susd1
|
UTSW |
4 |
59,424,108 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5776:Susd1
|
UTSW |
4 |
59,315,363 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5875:Susd1
|
UTSW |
4 |
59,412,203 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6056:Susd1
|
UTSW |
4 |
59,379,687 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6081:Susd1
|
UTSW |
4 |
59,411,359 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7018:Susd1
|
UTSW |
4 |
59,390,627 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7122:Susd1
|
UTSW |
4 |
59,411,318 (GRCm38) |
nonsense |
probably null |
|
|
R7161:Susd1
|
UTSW |
4 |
59,329,581 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7172:Susd1
|
UTSW |
4 |
59,315,420 (GRCm38) |
splice site |
probably null |
|
|
R7891:Susd1
|
UTSW |
4 |
59,349,915 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8103:Susd1
|
UTSW |
4 |
59,365,916 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8299:Susd1
|
UTSW |
4 |
59,315,773 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8472:Susd1
|
UTSW |
4 |
59,332,985 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8831:Susd1
|
UTSW |
4 |
59,379,594 (GRCm38) |
splice site |
probably benign |
|
|
R8903:Susd1
|
UTSW |
4 |
59,390,576 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8981:Susd1
|
UTSW |
4 |
59,380,883 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9002:Susd1
|
UTSW |
4 |
59,324,882 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9091:Susd1
|
UTSW |
4 |
59,412,226 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9270:Susd1
|
UTSW |
4 |
59,412,226 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9296:Susd1
|
UTSW |
4 |
59,427,865 (GRCm38) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation