Incidental Mutation 'IGL02146:Susd2'
| ID |
281758 |
| 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 # |
IGL02146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75474267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 479
(N479S)
|
| 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: N479S
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342
AA Change: N479S
| 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: N599S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342
AA Change: N599S
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
G |
9: 57,164,023 (GRCm39) |
C784R |
possibly damaging |
Het |
| Akp3 |
A |
T |
1: 87,054,297 (GRCm39) |
D278V |
probably benign |
Het |
| Atxn7l1 |
G |
T |
12: 33,418,030 (GRCm39) |
R730S |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,355,191 (GRCm39) |
T30A |
probably damaging |
Het |
| Blk |
G |
T |
14: 63,611,648 (GRCm39) |
P429H |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,212,689 (GRCm39) |
M524K |
unknown |
Het |
| Bst1 |
T |
A |
5: 43,983,678 (GRCm39) |
H221Q |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,693,576 (GRCm39) |
I419T |
possibly damaging |
Het |
| Cnep1r1 |
T |
C |
8: 88,856,326 (GRCm39) |
V34A |
probably benign |
Het |
| Ctnnbl1 |
A |
G |
2: 157,661,414 (GRCm39) |
E308G |
probably damaging |
Het |
| Cyp20a1 |
A |
T |
1: 60,410,410 (GRCm39) |
K237I |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,252,429 (GRCm39) |
T104A |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,361,374 (GRCm39) |
W42* |
probably null |
Het |
| Dnaaf11 |
C |
A |
15: 66,361,375 (GRCm39) |
W42L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,818,526 (GRCm39) |
V3271M |
probably damaging |
Het |
| Eed |
T |
A |
7: 89,618,803 (GRCm39) |
N204Y |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,910,878 (GRCm39) |
V1708A |
probably benign |
Het |
| Fcrl6 |
T |
C |
1: 172,426,264 (GRCm39) |
T178A |
probably benign |
Het |
| Galnt4 |
A |
C |
10: 98,945,563 (GRCm39) |
K429N |
possibly damaging |
Het |
| Ints6 |
T |
A |
14: 62,996,709 (GRCm39) |
T94S |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,360,916 (GRCm39) |
S981T |
probably damaging |
Het |
| Itga9 |
T |
A |
9: 118,663,400 (GRCm39) |
S146T |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,336,249 (GRCm39) |
Y2325C |
probably damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,582 (GRCm39) |
Q539L |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,444,371 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,129,927 (GRCm39) |
Y248H |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,318,879 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
T |
5: 112,991,151 (GRCm39) |
M942K |
probably damaging |
Het |
| Myzap |
T |
A |
9: 71,471,730 (GRCm39) |
T94S |
probably benign |
Het |
| Nebl |
C |
A |
2: 17,353,679 (GRCm39) |
R957S |
probably damaging |
Het |
| Nexn |
A |
T |
3: 151,952,885 (GRCm39) |
D278E |
probably benign |
Het |
| Nlgn1 |
A |
T |
3: 25,966,846 (GRCm39) |
N222K |
probably damaging |
Het |
| Or6c76 |
T |
A |
10: 129,612,727 (GRCm39) |
|
probably benign |
Het |
| Or8d1 |
G |
A |
9: 38,766,654 (GRCm39) |
A99T |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,380,094 (GRCm39) |
R79S |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,763,771 (GRCm39) |
I1268M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,637,157 (GRCm39) |
R590L |
probably damaging |
Het |
| Reg2 |
G |
A |
6: 78,382,568 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
T |
7: 44,662,934 (GRCm39) |
D26E |
probably damaging |
Het |
| Ska1 |
A |
G |
18: 74,329,981 (GRCm39) |
I253T |
possibly damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,299,169 (GRCm39) |
N443D |
probably damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,330,460 (GRCm39) |
T155S |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,125,675 (GRCm39) |
K118R |
possibly damaging |
Het |
| Snap23 |
T |
G |
2: 120,429,792 (GRCm39) |
N212K |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,151,078 (GRCm39) |
D346E |
probably benign |
Het |
| Sumf1 |
C |
A |
6: 108,150,392 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,646,569 (GRCm39) |
I821T |
probably benign |
Het |
| Tll2 |
C |
A |
19: 41,086,276 (GRCm39) |
V651L |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 64,012,104 (GRCm39) |
D655G |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,170 (GRCm39) |
Y798C |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,646,479 (GRCm39) |
I1528L |
probably benign |
Het |
| Wdtc1 |
G |
A |
4: 133,029,076 (GRCm39) |
L337F |
probably benign |
Het |
| Zfp128 |
A |
C |
7: 12,623,959 (GRCm39) |
K109T |
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 |
|
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 |
2015-04-16 |
Incidental Mutation