Incidental Mutation 'R8981:Susd1'
| ID |
683723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd1
|
| Ensembl Gene |
ENSMUSG00000038578 |
| Gene Name |
sushi domain containing 1 |
| Synonyms |
Gm12528 |
| MMRRC Submission |
068814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59314683-59438633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59380883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 326
(V326A)
|
| 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: V326A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: V326A
| 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: V273A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: V273A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
| Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,942,365 (GRCm39) |
V12A |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,677 (GRCm39) |
Y283C |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
| Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
| Myorg |
T |
C |
4: 41,498,209 (GRCm39) |
S474G |
possibly damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
| Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
| Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,657,043 (GRCm39) |
I100V |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,734,508 (GRCm39) |
S504A |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
| Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,438,226 (GRCm39) |
E613G |
probably damaging |
Het |
| Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
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 |
|
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 |
|
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'- GTGCTGTTTCATGAGTTACACTATCTG -3'
(R):5'- ATTCAGCATCCGAACCAGCG -3'
Sequencing Primer
(F):5'- CATGAGTTACACTATCTGTAGCTTG -3'
(R):5'- CTGGTGAGCAGCCGAGATAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation