Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02475:Susd2'

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: 0.112) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

75636706-75644008 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 75637499 bp (GRCm38)

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: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Susd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Susd2	APN	10	75638048	missense	probably benign	0.02
IGL00907:Susd2	APN	10	75640931	missense	probably benign	0.04
IGL01155:Susd2	APN	10	75640892	missense	possibly damaging	0.87
IGL01677:Susd2	APN	10	75639431	missense	possibly damaging	0.91
IGL02146:Susd2	APN	10	75638433	missense	possibly damaging	0.79
IGL02273:Susd2	APN	10	75640938	missense	possibly damaging	0.94
IGL02386:Susd2	APN	10	75640095	missense	probably damaging	0.97
IGL03218:Susd2	APN	10	75642625	missense	probably benign
PIT4418001:Susd2	UTSW	10	75638349	missense	probably benign	0.24
R0135:Susd2	UTSW	10	75638514	missense	probably damaging	1.00
R0396:Susd2	UTSW	10	75639911	missense	probably damaging	1.00
R0401:Susd2	UTSW	10	75638603	splice site	probably benign
R0608:Susd2	UTSW	10	75638235	missense	probably benign	0.45
R0636:Susd2	UTSW	10	75639350	missense	probably damaging	1.00
R1470:Susd2	UTSW	10	75638054	missense	probably damaging	1.00
R1470:Susd2	UTSW	10	75638054	missense	probably damaging	1.00
R1619:Susd2	UTSW	10	75638044	missense	possibly damaging	0.66
R1634:Susd2	UTSW	10	75637555	missense	probably benign	0.04
R1866:Susd2	UTSW	10	75639732	missense	probably damaging	0.98
R4354:Susd2	UTSW	10	75639728	missense	probably damaging	0.99
R4451:Susd2	UTSW	10	75639398	missense	probably damaging	1.00
R4721:Susd2	UTSW	10	75638130	missense	probably benign	0.00
R5546:Susd2	UTSW	10	75642218	missense	probably benign	0.01
R5768:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5769:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5770:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5771:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R5960:Susd2	UTSW	10	75639936	missense	probably damaging	1.00
R6152:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R6153:Susd2	UTSW	10	75638019	missense	probably damaging	0.98
R6259:Susd2	UTSW	10	75638046	missense	probably damaging	1.00
R6291:Susd2	UTSW	10	75637574	missense	possibly damaging	0.61
R7106:Susd2	UTSW	10	75638053	missense	probably damaging	1.00
R7232:Susd2	UTSW	10	75639851	missense	probably damaging	1.00
R7297:Susd2	UTSW	10	75642568	missense	probably benign	0.19
R7326:Susd2	UTSW	10	75642565	missense	probably benign	0.00
R7905:Susd2	UTSW	10	75639657	nonsense	probably null
R8512:Susd2	UTSW	10	75639651	missense	probably benign	0.13
R8888:Susd2	UTSW	10	75639618	missense	possibly damaging	0.58
R8895:Susd2	UTSW	10	75639618	missense	possibly damaging	0.58
X0025:Susd2	UTSW	10	75640572	nonsense	probably null
Z1177:Susd2	UTSW	10	75640478	missense	probably damaging	0.98

Posted On

2015-04-16