Incidental Mutation 'IGL02475:Susd2'
ID |
294928 |
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 # |
IGL02475
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
75472540-75479842 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 75473333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077610]
[ENSMUST00000095541]
|
AlphaFold |
Q9DBX3 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000095541
|
SMART Domains |
Protein: ENSMUSP00000093197 Gene: ENSMUSG00000006342
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
A |
T |
5: 146,119,343 (GRCm39) |
|
probably benign |
Het |
5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
Fam171a1 |
A |
G |
2: 3,224,527 (GRCm39) |
I293V |
possibly damaging |
Het |
Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
Ngef |
G |
T |
1: 87,406,872 (GRCm39) |
T632K |
possibly damaging |
Het |
Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
Olfml2b |
A |
G |
1: 170,509,743 (GRCm39) |
D697G |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
Slc6a12 |
T |
A |
6: 121,331,334 (GRCm39) |
|
probably null |
Het |
Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
Tpd52l2 |
G |
A |
2: 181,141,667 (GRCm39) |
V17M |
probably benign |
Het |
Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
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 |