Incidental Mutation 'IGL00907:Susd2'
ID |
28312 |
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: 0.084)
|
Stock # |
IGL00907
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75476765 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 206
(N206S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077610]
[ENSMUST00000095541]
|
AlphaFold |
Q9DBX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077610
AA Change: N86S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000076802 Gene: ENSMUSG00000006342 AA Change: N86S
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 |
probably benign
Transcript: ENSMUST00000095541
AA Change: N206S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000093197 Gene: ENSMUSG00000006342 AA Change: N206S
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armt1 |
A |
G |
10: 4,454,051 (GRCm38) |
F379V |
possibly damaging |
Het |
Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
Fam234a |
G |
A |
17: 26,432,500 (GRCm39) |
R550W |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
Mael |
A |
G |
1: 166,032,418 (GRCm39) |
Y314H |
probably damaging |
Het |
Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
Or5p56 |
A |
T |
7: 107,590,097 (GRCm39) |
D175V |
probably damaging |
Het |
Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
Phf24 |
C |
T |
4: 42,938,667 (GRCm39) |
T264I |
probably benign |
Het |
Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably 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 |
IGL01155:Susd2
|
APN |
10 |
75,476,726 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01677:Susd2
|
APN |
10 |
75,475,265 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
2013-04-17 |