Incidental Mutation 'IGL03218:Susd2'
ID |
413560 |
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 # |
IGL03218
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75478459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 39
(L39P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001712]
[ENSMUST00000077610]
[ENSMUST00000095541]
|
AlphaFold |
Q9DBX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001712
|
SMART Domains |
Protein: ENSMUSP00000001712 Gene: ENSMUSG00000020196
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
TPR
|
90 |
123 |
4.15e-2 |
SMART |
TPR
|
124 |
157 |
5.69e0 |
SMART |
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
TPR
|
615 |
648 |
9.7e0 |
SMART |
low complexity region
|
740 |
750 |
N/A |
INTRINSIC |
low complexity region
|
882 |
892 |
N/A |
INTRINSIC |
TPR
|
1055 |
1088 |
6.92e1 |
SMART |
low complexity region
|
1327 |
1349 |
N/A |
INTRINSIC |
low complexity region
|
1714 |
1727 |
N/A |
INTRINSIC |
low complexity region
|
1778 |
1790 |
N/A |
INTRINSIC |
low complexity region
|
1791 |
1803 |
N/A |
INTRINSIC |
low complexity region
|
1810 |
1831 |
N/A |
INTRINSIC |
low complexity region
|
1941 |
1956 |
N/A |
INTRINSIC |
Pfam:MEF2_binding
|
2123 |
2157 |
5.7e-26 |
PFAM |
low complexity region
|
2165 |
2183 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077610
|
SMART Domains |
Protein: ENSMUSP00000076802 Gene: ENSMUSG00000006342
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: L39P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093197 Gene: ENSMUSG00000006342 AA Change: L39P
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,561,727 (GRCm39) |
|
probably null |
Het |
Acot9 |
T |
A |
X: 154,078,207 (GRCm39) |
V251E |
possibly damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,648,021 (GRCm39) |
S600P |
possibly damaging |
Het |
Amfr |
A |
T |
8: 94,726,964 (GRCm39) |
M157K |
probably damaging |
Het |
Arvcf |
T |
C |
16: 18,222,875 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,699,949 (GRCm39) |
V1924A |
possibly damaging |
Het |
Atp10a |
T |
A |
7: 58,438,196 (GRCm39) |
|
probably null |
Het |
Atp1a2 |
T |
A |
1: 172,116,870 (GRCm39) |
E249V |
probably null |
Het |
C1qc |
A |
G |
4: 136,617,598 (GRCm39) |
L166P |
probably damaging |
Het |
Col4a3 |
C |
A |
1: 82,620,927 (GRCm39) |
|
probably benign |
Het |
Def8 |
A |
G |
8: 124,183,175 (GRCm39) |
D258G |
probably damaging |
Het |
Dll1 |
T |
C |
17: 15,593,830 (GRCm39) |
D179G |
probably benign |
Het |
Dnah14 |
C |
A |
1: 181,582,834 (GRCm39) |
H3124Q |
probably benign |
Het |
Fabp5 |
T |
A |
3: 10,080,023 (GRCm39) |
|
probably benign |
Het |
Fam133b |
C |
T |
5: 3,604,684 (GRCm39) |
Q24* |
probably null |
Het |
Fam13c |
A |
C |
10: 70,284,599 (GRCm39) |
D25A |
possibly damaging |
Het |
Flna |
A |
G |
X: 73,278,208 (GRCm39) |
|
probably null |
Het |
Frem1 |
T |
A |
4: 82,832,883 (GRCm39) |
T1917S |
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,285,075 (GRCm39) |
T337A |
probably benign |
Het |
Fxyd7 |
C |
T |
7: 30,743,995 (GRCm39) |
|
probably null |
Het |
Galnt5 |
T |
G |
2: 57,889,401 (GRCm39) |
S334A |
possibly damaging |
Het |
Gm10220 |
T |
C |
5: 26,323,696 (GRCm39) |
K117R |
probably damaging |
Het |
Gpd2 |
T |
A |
2: 57,197,066 (GRCm39) |
L207H |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,678,279 (GRCm39) |
Y182F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,115,836 (GRCm39) |
I1018V |
possibly damaging |
Het |
Letmd1 |
T |
C |
15: 100,367,709 (GRCm39) |
F89S |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,318,567 (GRCm39) |
Y696C |
probably damaging |
Het |
Mcpt9 |
A |
G |
14: 56,264,908 (GRCm39) |
Y198H |
probably damaging |
Het |
Mmp1b |
A |
G |
9: 7,387,907 (GRCm39) |
V29A |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,391,311 (GRCm39) |
D940G |
possibly damaging |
Het |
Myzap |
A |
G |
9: 71,462,871 (GRCm39) |
M225T |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,564,133 (GRCm39) |
Y516C |
probably damaging |
Het |
Nsdhl |
T |
A |
X: 72,000,052 (GRCm39) |
|
probably benign |
Het |
Olfml1 |
A |
G |
7: 107,170,476 (GRCm39) |
E121G |
possibly damaging |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,935 (GRCm39) |
V45A |
probably benign |
Het |
Or8k38 |
A |
G |
2: 86,488,703 (GRCm39) |
I33T |
probably benign |
Het |
Phex |
C |
T |
X: 155,961,783 (GRCm39) |
G636E |
probably damaging |
Het |
Pkd2l2 |
A |
T |
18: 34,563,373 (GRCm39) |
I475F |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,463,764 (GRCm39) |
S54T |
probably benign |
Het |
Prkx |
A |
T |
X: 76,829,806 (GRCm39) |
L85Q |
probably damaging |
Het |
Smc1b |
A |
T |
15: 84,973,914 (GRCm39) |
I914N |
probably benign |
Het |
Teddm2 |
C |
T |
1: 153,726,770 (GRCm39) |
V35I |
probably benign |
Het |
Tspo |
T |
A |
15: 83,455,631 (GRCm39) |
V6E |
possibly damaging |
Het |
Vps41 |
G |
T |
13: 19,013,440 (GRCm39) |
V353F |
possibly damaging |
Het |
Wfdc18 |
T |
A |
11: 83,600,033 (GRCm39) |
|
probably null |
Het |
Wsb1 |
C |
T |
11: 79,139,324 (GRCm39) |
S124N |
probably damaging |
Het |
Zfp445 |
T |
C |
9: 122,686,594 (GRCm39) |
E177G |
probably benign |
Het |
Zfp759 |
G |
T |
13: 67,287,480 (GRCm39) |
V344L |
probably benign |
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 |
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 |
|
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 |
2016-08-02 |