Incidental Mutation 'IGL01677:Susd2'
| ID |
103660 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Susd2
|
| Ensembl Gene |
ENSMUSG00000006342 |
| Gene Name |
sushi domain containing 2 |
| Synonyms |
1200011D11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL01677
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75475265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 515
(V515E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077610]
[ENSMUST00000095541]
|
| AlphaFold |
Q9DBX3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077610
AA Change: V395E
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: V395E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
AMOP
|
162 |
310 |
4.09e-82 |
SMART |
|
VWD
|
313 |
489 |
1.9e-19 |
SMART |
|
CCP
|
602 |
655 |
3.37e-17 |
SMART |
|
transmembrane domain
|
663 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095541
AA Change: V515E
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: V515E
| Domain | Start | End | E-Value | Type |
|---|
|
SO
|
25 |
64 |
4.77e-2 |
SMART |
|
AMOP
|
282 |
430 |
4.09e-82 |
SMART |
|
VWD
|
433 |
609 |
1.9e-19 |
SMART |
|
CCP
|
722 |
775 |
3.37e-17 |
SMART |
|
transmembrane domain
|
783 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219733
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,129,700 (GRCm39) |
M154L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,607,853 (GRCm39) |
D131G |
probably damaging |
Het |
| Cdc45 |
G |
A |
16: 18,605,750 (GRCm39) |
T429I |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,283,999 (GRCm39) |
R101* |
probably null |
Het |
| Cp |
T |
C |
3: 20,020,598 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,479 (GRCm39) |
D77G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,367,928 (GRCm39) |
W2771L |
probably damaging |
Het |
| Fas |
G |
A |
19: 34,296,218 (GRCm39) |
V177I |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,293,710 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,309 (GRCm39) |
S223P |
probably benign |
Het |
| Klre1 |
G |
T |
6: 129,559,006 (GRCm39) |
G75C |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,086,143 (GRCm39) |
C1461R |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 32,017,158 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,130,575 (GRCm39) |
I178N |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,360,641 (GRCm39) |
T503A |
probably benign |
Het |
| Or2n1 |
T |
C |
17: 38,486,766 (GRCm39) |
S264P |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,852 (GRCm39) |
S40P |
probably benign |
Het |
| Or52u1 |
T |
C |
7: 104,237,352 (GRCm39) |
S114P |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,441 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,461,782 (GRCm39) |
T593I |
probably damaging |
Het |
| Phtf1 |
T |
A |
3: 103,906,099 (GRCm39) |
S594T |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,810,099 (GRCm39) |
D78E |
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,238 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
C |
A |
10: 85,779,793 (GRCm39) |
Q292H |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,296,392 (GRCm39) |
T95S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,020,069 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,906,708 (GRCm39) |
I394N |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,036 (GRCm39) |
H334R |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,252,201 (GRCm39) |
I466T |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,389,945 (GRCm39) |
R778G |
probably benign |
Het |
| Ubfd1 |
T |
A |
7: 121,670,922 (GRCm39) |
|
probably benign |
Het |
| Utrn |
G |
A |
10: 12,619,901 (GRCm39) |
T248M |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,823 (GRCm39) |
D227A |
possibly damaging |
Het |
|
| Other mutations in Susd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Susd2
|
APN |
10 |
75,473,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00907:Susd2
|
APN |
10 |
75,476,765 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01155:Susd2
|
APN |
10 |
75,476,726 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02146:Susd2
|
APN |
10 |
75,474,267 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02273:Susd2
|
APN |
10 |
75,476,772 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02386:Susd2
|
APN |
10 |
75,475,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02475:Susd2
|
APN |
10 |
75,473,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03218:Susd2
|
APN |
10 |
75,478,459 (GRCm39) |
missense |
probably benign |
|
|
PIT4418001:Susd2
|
UTSW |
10 |
75,474,183 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0135:Susd2
|
UTSW |
10 |
75,474,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Susd2
|
UTSW |
10 |
75,475,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Susd2
|
UTSW |
10 |
75,474,437 (GRCm39) |
splice site |
probably benign |
|
|
R0608:Susd2
|
UTSW |
10 |
75,474,069 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0636:Susd2
|
UTSW |
10 |
75,475,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Susd2
|
UTSW |
10 |
75,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Susd2
|
UTSW |
10 |
75,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Susd2
|
UTSW |
10 |
75,473,878 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1634:Susd2
|
UTSW |
10 |
75,473,389 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1866:Susd2
|
UTSW |
10 |
75,475,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4354:Susd2
|
UTSW |
10 |
75,475,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4451:Susd2
|
UTSW |
10 |
75,475,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Susd2
|
UTSW |
10 |
75,473,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5546:Susd2
|
UTSW |
10 |
75,478,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5768:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5769:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5770:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5771:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5960:Susd2
|
UTSW |
10 |
75,475,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6153:Susd2
|
UTSW |
10 |
75,473,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6259:Susd2
|
UTSW |
10 |
75,473,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Susd2
|
UTSW |
10 |
75,473,408 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7106:Susd2
|
UTSW |
10 |
75,473,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Susd2
|
UTSW |
10 |
75,475,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Susd2
|
UTSW |
10 |
75,478,402 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7326:Susd2
|
UTSW |
10 |
75,478,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7905:Susd2
|
UTSW |
10 |
75,475,491 (GRCm39) |
nonsense |
probably null |
|
|
R8512:Susd2
|
UTSW |
10 |
75,475,485 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8888:Susd2
|
UTSW |
10 |
75,475,452 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8895:Susd2
|
UTSW |
10 |
75,475,452 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0025:Susd2
|
UTSW |
10 |
75,476,406 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Susd2
|
UTSW |
10 |
75,476,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-01-21 |
Incidental Mutation