Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:Susd1'

290340

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Susd1

Ensembl Gene

ENSMUSG00000038578

Gene Name

sushi domain containing 1

Synonyms

Gm12528

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

59314683-59438633 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59427985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 66 (Y66*)

Ref Sequence

ENSEMBL: ENSMUSP00000048201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040166] [ENSMUST00000107544]

AlphaFold

E9Q3H4

Predicted Effect

probably null
Transcript: ENSMUST00000040166
AA Change: Y66*

SMART Domains

Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: Y66*

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	16	30	N/A	INTRINSIC
EGF	43	77	1.36e1	SMART
EGF_CA	78	129	2.92e-7	SMART
EGF_CA	130	180	2.22e-12	SMART
CCP	184	239	7.87e-9	SMART
CCP	244	299	5.48e-8	SMART
Blast:FN3	306	379	2e-6	BLAST
Blast:FN3	459	580	8e-50	BLAST
transmembrane domain	729	751	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000107544
AA Change: W15R

SMART Domains

Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: W15R

Domain	Start	End	E-Value	Type
EGF	28	76	2.02e-1	SMART
EGF_CA	77	127	2.22e-12	SMART
CCP	131	186	7.87e-9	SMART
CCP	191	246	5.48e-8	SMART
Blast:FN3	253	326	2e-6	BLAST
Blast:FN3	406	527	4e-50	BLAST
transmembrane domain	676	698	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,654,055	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,156,873		probably null	Het
Adgra3	A	G	5: 50,058,558	V73A	probably benign	Het
Adgre4	G	A	17: 55,843,209	R600Q	probably benign	Het
Aggf1	T	C	13: 95,352,850		probably benign	Het
Aktip	C	T	8: 91,126,892	V96I	possibly damaging	Het
Atm	A	G	9: 53,522,176	I258T	probably benign	Het
Baz1b	C	T	5: 135,244,306	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,849,975	Y428N	probably damaging	Het
C87499	A	T	4: 88,627,890	I405N	probably damaging	Het
Cadps	A	G	14: 12,597,380	S437P	probably damaging	Het
Car4	C	T	11: 84,965,767	P294S	probably damaging	Het
Cbwd1	A	T	19: 24,931,662		probably null	Het
Cenpq	A	G	17: 40,924,332	L213P	probably damaging	Het
Cept1	A	G	3: 106,539,188		probably null	Het
Cln6	A	G	9: 62,847,125	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,160,935	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,617,417	M345T	probably damaging	Het
Dapk2	T	A	9: 66,246,523	I187N	probably damaging	Het
Dkk2	A	G	3: 132,177,912	D191G	probably benign	Het
Dnah8	T	A	17: 30,767,811	F3145I	probably damaging	Het
Dock1	A	C	7: 135,108,819	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,762,870	L457F	probably damaging	Het
Ercc6l2	T	C	13: 63,853,683	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,384,153	I284S	probably damaging	Het
Gm10288	A	T	3: 146,839,199		noncoding transcript	Het
Gp6	T	G	7: 4,394,508	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206	S698L	possibly damaging	Het
Ifng	A	T	10: 118,442,505	I53F	possibly damaging	Het
Kazn	A	C	4: 142,147,016		probably null	Het
Khk	A	T	5: 30,928,504	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,598,059		probably benign	Het
Lnx1	T	A	5: 74,627,366	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,488,942		probably null	Het
Lta4h	A	T	10: 93,478,467	N467I	probably benign	Het
Mcmbp	C	A	7: 128,709,781		probably null	Het
Me2	A	T	18: 73,797,967	I85K	probably benign	Het
Muc4	C	T	16: 32,750,986	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,799,912	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,327,893	V70M	probably damaging	Het
Olfr677	G	A	7: 105,056,975	G243D	probably damaging	Het
Olfr827	T	G	10: 130,210,734	Y132S	probably damaging	Het
Olfr883	A	T	9: 38,026,036	I77L	possibly damaging	Het
Pkd1l3	A	G	8: 109,646,497		probably benign	Het
Ppm1d	A	T	11: 85,345,715	E440V	probably damaging	Het
Ripor2	A	T	13: 24,731,589	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,437,448	A18V	probably benign	Het
Serpina5	G	T	12: 104,102,125	K148N	probably damaging	Het
Setx	A	G	2: 29,146,964	K1154E	probably benign	Het
Spata31	T	A	13: 64,921,218	N393K	probably benign	Het
Spcs2	T	C	7: 99,849,034	K81R	probably damaging	Het
Stt3b	T	A	9: 115,250,907	M646L	possibly damaging	Het
Suco	T	C	1: 161,818,626	T1169A	probably benign	Het
Trim34a	T	A	7: 104,261,234	C414*	probably null	Het
Trim58	G	A	11: 58,651,350	G379S	probably damaging	Het
Vmn2r50	T	A	7: 10,053,075	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,058	G168W	probably benign	Het
Zfp418	T	C	7: 7,174,691		probably benign	Het
Zfp57	G	A	17: 37,010,027	V258I	probably benign	Het

Other mutations in Susd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Susd1	APN	4	59365817	missense	possibly damaging	0.85
IGL01705:Susd1	APN	4	59332931	splice site	probably benign
IGL01727:Susd1	APN	4	59412329	splice site	probably benign
IGL02015:Susd1	APN	4	59315745	missense	possibly damaging	0.86
IGL02102:Susd1	APN	4	59369636	missense	possibly damaging	0.70
IGL02351:Susd1	APN	4	59427985	nonsense	probably null
IGL03210:Susd1	APN	4	59333035	critical splice acceptor site	probably null
IGL03258:Susd1	APN	4	59379655	missense	possibly damaging	0.73
R0612:Susd1	UTSW	4	59390561	splice site	probably benign
R0719:Susd1	UTSW	4	59329506	missense	possibly damaging	0.56
R0722:Susd1	UTSW	4	59379749	missense	possibly damaging	0.73
R1355:Susd1	UTSW	4	59424114	missense	possibly damaging	0.86
R1672:Susd1	UTSW	4	59411395	missense	probably damaging	0.98
R1677:Susd1	UTSW	4	59424089	missense	possibly damaging	0.85
R1921:Susd1	UTSW	4	59412191	missense	probably benign	0.03
R1933:Susd1	UTSW	4	59351695	missense	possibly damaging	0.72
R1998:Susd1	UTSW	4	59349925	missense	probably benign	0.03
R2202:Susd1	UTSW	4	59349843	missense	possibly damaging	0.96
R2203:Susd1	UTSW	4	59349843	missense	possibly damaging	0.96
R2204:Susd1	UTSW	4	59349843	missense	possibly damaging	0.96
R2329:Susd1	UTSW	4	59379715	missense	possibly damaging	0.85
R2510:Susd1	UTSW	4	59349855	missense	possibly damaging	0.86
R4512:Susd1	UTSW	4	59329491	missense	possibly damaging	0.96
R4732:Susd1	UTSW	4	59428029	missense	possibly damaging	0.53
R4733:Susd1	UTSW	4	59428029	missense	possibly damaging	0.53
R4969:Susd1	UTSW	4	59351679	missense	probably benign	0.04
R5121:Susd1	UTSW	4	59379657	missense	possibly damaging	0.73
R5548:Susd1	UTSW	4	59369577	missense	probably benign	0.05
R5747:Susd1	UTSW	4	59424108	missense	probably damaging	0.98
R5776:Susd1	UTSW	4	59315363	utr 3 prime	probably benign
R5875:Susd1	UTSW	4	59412203	missense	possibly damaging	0.71
R6056:Susd1	UTSW	4	59379687	missense	possibly damaging	0.53
R6081:Susd1	UTSW	4	59411359	missense	possibly damaging	0.86
R7018:Susd1	UTSW	4	59390627	missense	probably benign	0.44
R7122:Susd1	UTSW	4	59411318	nonsense	probably null
R7161:Susd1	UTSW	4	59329581	missense	possibly damaging	0.85
R7172:Susd1	UTSW	4	59315420	splice site	probably null
R7891:Susd1	UTSW	4	59349915	missense	possibly damaging	0.85
R8103:Susd1	UTSW	4	59365916	critical splice acceptor site	probably null
R8299:Susd1	UTSW	4	59315773	missense	probably benign	0.33
R8472:Susd1	UTSW	4	59332985	missense	possibly damaging	0.96
R8831:Susd1	UTSW	4	59379594	splice site	probably benign
R8903:Susd1	UTSW	4	59390576	missense	probably benign	0.02
R8981:Susd1	UTSW	4	59380883	missense	probably benign	0.07
R9002:Susd1	UTSW	4	59324882	missense	probably benign	0.00
R9091:Susd1	UTSW	4	59412226	missense	probably benign	0.44
R9270:Susd1	UTSW	4	59412226	missense	probably benign	0.44

Posted On

2015-04-16