Incidental Mutation 'R5769:Susd2'
ID |
446448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Susd2
|
Ensembl Gene |
ENSMUSG00000006342 |
Gene Name |
sushi domain containing 2 |
Synonyms |
1200011D11Rik |
MMRRC Submission |
043369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R5769 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 75473853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 581
(A581T)
|
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 |
probably damaging
Transcript: ENSMUST00000077610
AA Change: A581T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000076802 Gene: ENSMUSG00000006342 AA Change: A581T
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 damaging
Transcript: ENSMUST00000095541
AA Change: A701T
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093197 Gene: ENSMUSG00000006342 AA Change: A701T
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
|
Meta Mutation Damage Score |
0.2204 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
Acap3 |
A |
T |
4: 155,986,857 (GRCm39) |
D371V |
probably damaging |
Het |
Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
Coq8a |
A |
G |
1: 180,006,681 (GRCm39) |
Y69H |
probably damaging |
Het |
Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
Fbxo38 |
G |
A |
18: 62,648,036 (GRCm39) |
P834L |
probably benign |
Het |
Fyb2 |
G |
T |
4: 104,870,518 (GRCm39) |
K706N |
probably damaging |
Het |
Fyb2 |
T |
A |
4: 104,872,841 (GRCm39) |
V738E |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
Pdia4 |
A |
G |
6: 47,792,446 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
Zfp1005 |
A |
G |
2: 150,110,198 (GRCm39) |
E296G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCCTTCCAGGTACCTCAAGC -3'
(R):5'- TGGTCTACCAATTCGTGTACGG -3'
Sequencing Primer
(F):5'- GGTAGCCAGCCACAGGATAC -3'
(R):5'- ATTCGTGTACGGACCCAAG -3'
|
Posted On |
2016-11-21 |