Incidental Mutation 'IGL02273:Susd2'
ID |
287259 |
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 # |
IGL02273
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75476772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 84
(S84P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077610]
[ENSMUST00000095541]
|
AlphaFold |
Q9DBX3 |
PDB Structure |
Solution structure of RSGI RUH-041, a SMB-like domain from mouse cDNA [SOLUTION NMR]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077610
AA Change: S84P
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000076802 Gene: ENSMUSG00000006342 AA Change: S84P
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: S204P
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000093197 Gene: ENSMUSG00000006342 AA Change: S204P
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
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 |
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 |
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 |
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 |
2015-04-16 |