Incidental Mutation 'R8299:Susd1'
| ID |
639125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd1
|
| Ensembl Gene |
ENSMUSG00000038578 |
| Gene Name |
sushi domain containing 1 |
| Synonyms |
Gm12528 |
| MMRRC Submission |
067787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8299 (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 T
at 59315773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 733
(V733I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040166]
[ENSMUST00000107544]
|
| AlphaFold |
E9Q3H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040166
AA Change: V733I
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: V733I
| 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
AA Change: V680I
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: V680I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
A |
10: 69,811,981 (GRCm39) |
P1216Q |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,599,900 (GRCm39) |
Y164H |
|
Het |
| Atp13a3 |
A |
C |
16: 30,152,619 (GRCm39) |
F1021C |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,112,852 (GRCm39) |
D1201G |
probably damaging |
Het |
| Bora |
G |
A |
14: 99,305,570 (GRCm39) |
R313Q |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,847,278 (GRCm39) |
Y444H |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,144,914 (GRCm39) |
M87L |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,414,332 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
G |
A |
8: 113,500,324 (GRCm39) |
G539S |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,230,669 (GRCm39) |
Y471N |
possibly damaging |
Het |
| Dctn4 |
T |
A |
18: 60,678,872 (GRCm39) |
I197N |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,060,936 (GRCm39) |
L163P |
probably damaging |
Het |
| Elovl2 |
T |
C |
13: 41,345,396 (GRCm39) |
N101D |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,874 (GRCm39) |
I404K |
possibly damaging |
Het |
| Gadd45a |
A |
G |
6: 67,014,183 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
T |
C |
8: 106,454,794 (GRCm39) |
T29A |
probably benign |
Het |
| Hltf |
A |
G |
3: 20,136,986 (GRCm39) |
K408E |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,546 (GRCm39) |
T362A |
probably benign |
Het |
| Klhl12 |
G |
A |
1: 134,416,678 (GRCm39) |
G467R |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,557,443 (GRCm39) |
|
probably benign |
Het |
| Mcee |
G |
A |
7: 64,061,621 (GRCm39) |
E29K |
unknown |
Het |
| Mki67 |
A |
T |
7: 135,306,349 (GRCm39) |
I571N |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,650,088 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,651 (GRCm39) |
E1426A |
possibly damaging |
Het |
| Muc4 |
A |
G |
16: 32,576,271 (GRCm39) |
T1924A |
unknown |
Het |
| Myh14 |
T |
A |
7: 44,276,472 (GRCm39) |
D1170V |
probably damaging |
Het |
| Or10al5 |
G |
T |
17: 38,062,891 (GRCm39) |
E49* |
probably null |
Het |
| Or51a6 |
T |
C |
7: 102,604,739 (GRCm39) |
E30G |
probably damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,409 (GRCm39) |
H306R |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,829 (GRCm39) |
I34V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,408 (GRCm39) |
I66T |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,330 (GRCm39) |
V3734A |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,396 (GRCm39) |
L576P |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,663,041 (GRCm39) |
N1203Y |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,677,327 (GRCm39) |
N84S |
probably benign |
Het |
| Prkn |
T |
G |
17: 11,456,408 (GRCm39) |
S77R |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,537 (GRCm39) |
S678L |
probably benign |
Het |
| Rims3 |
T |
C |
4: 120,746,569 (GRCm39) |
Y197H |
probably damaging |
Het |
| S1pr4 |
A |
G |
10: 81,335,267 (GRCm39) |
M69T |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,129,420 (GRCm39) |
Y757H |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,484,248 (GRCm39) |
N128K |
probably damaging |
Het |
| Slc35a4 |
T |
C |
18: 36,815,980 (GRCm39) |
V270A |
possibly damaging |
Het |
| Speg |
A |
C |
1: 75,364,480 (GRCm39) |
D287A |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Stk11 |
G |
T |
10: 79,963,867 (GRCm39) |
E350D |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,694,890 (GRCm39) |
L291S |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,105,502 (GRCm39) |
R173G |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,411,745 (GRCm39) |
V23A |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,386,123 (GRCm38) |
N110D |
possibly damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,890 (GRCm39) |
V84M |
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 |
|
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 |
|
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 |
|
|
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'- GGGGTGGTCATCACTATTCC -3'
(R):5'- CTTTGTTAAGTGAAGCCCAGC -3'
Sequencing Primer
(F):5'- TACTCTCAGCTGCAGGGTCAG -3'
(R):5'- GCTTCAGATTAAAACAGAATGTGCGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation