Incidental Mutation 'R7891:Susd1'
| ID |
609323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Susd1
|
| Ensembl Gene |
ENSMUSG00000038578 |
| Gene Name |
sushi domain containing 1 |
| Synonyms |
Gm12528 |
| MMRRC Submission |
045943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R7891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59314683-59438633 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59349915 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 560
(D560G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040166]
[ENSMUST00000107544]
|
| AlphaFold |
E9Q3H4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040166
AA Change: D560G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: D560G
| 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: D507G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: D507G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
G |
2: 165,078,944 |
E56D |
unknown |
Het |
| 9930111J21Rik2 |
T |
C |
11: 49,019,716 |
Q630R |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,163,272 |
V68A |
probably benign |
Het |
| Acnat1 |
G |
A |
4: 49,449,181 |
A195V |
possibly damaging |
Het |
| Acsl3 |
C |
T |
1: 78,703,588 |
A612V |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,998,232 |
D115E |
probably benign |
Het |
| Adam3 |
T |
A |
8: 24,707,497 |
|
probably null |
Het |
| Aif1 |
G |
A |
17: 35,172,624 |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,988,309 |
D154G |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,810,159 |
C233R |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,072,665 |
D74E |
unknown |
Het |
| Cckbr |
T |
A |
7: 105,435,350 |
D430E |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,475,295 |
H667R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,712,289 |
E1426G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,643,156 |
I2791V |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 73,816,392 |
N130S |
probably benign |
Het |
| Fam198b |
G |
A |
3: 79,886,284 |
A20T |
probably benign |
Het |
| Fgfr4 |
A |
G |
13: 55,159,151 |
T218A |
probably benign |
Het |
| Foxe1 |
G |
A |
4: 46,344,599 |
E136K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,478 |
S1100G |
probably benign |
Het |
| Gm21886 |
T |
G |
18: 80,089,757 |
Q62P |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,556,366 |
E852G |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,353,711 |
D537G |
probably benign |
Het |
| Gpx5 |
C |
A |
13: 21,288,748 |
D139Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,593,189 |
Y5007C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,328,411 |
R1450* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,956,314 |
P1200S |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,300,111 |
R3400C |
probably damaging |
Het |
| Miox |
A |
C |
15: 89,336,539 |
M216L |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,290,904 |
Y687C |
probably damaging |
Het |
| Mxi1 |
T |
A |
19: 53,310,761 |
V21D |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,260,432 |
L1309P |
probably benign |
Het |
| Olfr1116 |
A |
T |
2: 87,269,077 |
T99S |
possibly damaging |
Het |
| Olfr1186 |
G |
A |
2: 88,525,945 |
V121I |
probably benign |
Het |
| Olfr272 |
C |
T |
4: 52,911,663 |
V44I |
probably benign |
Het |
| Olfr837 |
T |
C |
9: 19,137,845 |
M284T |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,340,975 |
M180K |
possibly damaging |
Het |
| Polq |
A |
G |
16: 37,027,882 |
T284A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,741,880 |
M295K |
probably damaging |
Het |
| Pou2af1 |
G |
T |
9: 51,232,997 |
M70I |
probably damaging |
Het |
| Pou3f1 |
G |
A |
4: 124,658,439 |
E245K |
probably damaging |
Het |
| Psmb1 |
C |
T |
17: 15,494,486 |
V50I |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,227,514 |
D50G |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,498,574 |
I955M |
probably benign |
Het |
| Rasef |
T |
C |
4: 73,790,964 |
T11A |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,759,698 |
T97I |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,549,914 |
L710F |
probably damaging |
Het |
| Slc39a10 |
C |
T |
1: 46,812,168 |
A721T |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,586,673 |
P802R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,700,325 |
C1330R |
possibly damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 145,229,090 |
Y32C |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 122,357,344 |
V306F |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,776,710 |
Q35L |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,786,029 |
S197P |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,042,647 |
E806D |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,388,778 |
Q469P |
possibly damaging |
Het |
| Vmn1r73 |
G |
A |
7: 11,757,109 |
V285I |
possibly damaging |
Het |
| Zfp934 |
A |
C |
13: 62,520,189 |
S63R |
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 |
|
IGL02351:Susd1
|
APN |
4 |
59,427,985 (GRCm38) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTTACCATGACAGAAAGCAAC -3'
(R):5'- CCAGGGGCTGAGATTATAGTTATG -3'
Sequencing Primer
(F):5'- GAAAGCAACAATATTCCCTATCTGG -3'
(R):5'- AGAAGGCATTTGTCCAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation