Incidental Mutation 'R6081:Susd1'
ID |
482914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Susd1
|
Ensembl Gene |
ENSMUSG00000038578 |
Gene Name |
sushi domain containing 1 |
Synonyms |
Gm12528 |
MMRRC Submission |
044240-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6081 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59314683-59438633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59411359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 158
(C158F)
|
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: C211F
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048201 Gene: ENSMUSG00000038578 AA Change: C211F
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: C158F
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103168 Gene: ENSMUSG00000038578 AA Change: C158F
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGAATGCATTTATTCCCAAAGGG -3'
(R):5'- ATGTGCTCAGAAACATCGTGG -3'
Sequencing Primer
(F):5'- GAAACTGAAAAGCAACCTAGGGACAC -3'
(R):5'- TGAATCTAACACAGGGTCTGG -3'
|
Posted On |
2017-07-14 |