Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01514:Susd5'

89330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Susd5

Ensembl Gene

ENSMUSG00000086596

Gene Name

sushi domain containing 5

Synonyms

LOC382111

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01514

Quality Score

Status

Chromosome

Chromosomal Location

113886422-113927801 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 113897947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135338]

AlphaFold

G3UW60

Predicted Effect

probably benign
Transcript: ENSMUST00000135338

SMART Domains

Protein: ENSMUSP00000128826
Gene: ENSMUSG00000086596

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LINK	33	130	7.42e-26	SMART
CCP	136	193	9.65e-1	SMART
low complexity region	416	428	N/A	INTRINSIC
low complexity region	485	496	N/A	INTRINSIC
transmembrane domain	566	588	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,669,587 (GRCm39)		probably benign	Het
Actl7b	T	C	4: 56,740,677 (GRCm39)	Y227C	probably damaging	Het
Adam26a	A	T	8: 44,021,485 (GRCm39)	H668Q	probably benign	Het
Alcam	A	T	16: 52,094,653 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,144,624 (GRCm39)		probably benign	Het
Atp11b	G	T	3: 35,891,130 (GRCm39)	G801V	probably damaging	Het
C3	G	A	17: 57,522,866 (GRCm39)	T1006I	probably benign	Het
Cacna2d4	T	C	6: 119,259,134 (GRCm39)		probably benign	Het
Cldn34b3	A	T	X: 75,310,680 (GRCm39)	I83F	probably damaging	Het
Clec2g	G	A	6: 128,925,736 (GRCm39)	M48I	probably benign	Het
Coch	A	G	12: 51,650,136 (GRCm39)	D375G	probably damaging	Het
Erbb2	C	T	11: 98,323,745 (GRCm39)	T653I	possibly damaging	Het
Etv3	A	G	3: 87,443,025 (GRCm39)	H203R	possibly damaging	Het
Fat4	A	G	3: 39,003,683 (GRCm39)	R1801G	possibly damaging	Het
Gars1	T	A	6: 55,042,505 (GRCm39)	S413T	probably benign	Het
Gnat1	G	A	9: 107,553,500 (GRCm39)	R253C	possibly damaging	Het
Hook3	A	T	8: 26,578,217 (GRCm39)	L91I	possibly damaging	Het
Lrp8	T	C	4: 107,712,881 (GRCm39)	Y377H	probably damaging	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Malt1	A	G	18: 65,609,471 (GRCm39)	D825G	possibly damaging	Het
Nlrp9b	T	C	7: 19,779,859 (GRCm39)		probably null	Het
Or1x2	C	T	11: 50,918,416 (GRCm39)	R196*	probably null	Het
Or2v2	A	T	11: 49,004,403 (GRCm39)	I50N	probably damaging	Het
Orc1	A	G	4: 108,459,249 (GRCm39)	R473G	probably damaging	Het
Pard6g	G	A	18: 80,160,661 (GRCm39)	R258H	probably damaging	Het
Pkdrej	T	C	15: 85,702,264 (GRCm39)	D1224G	possibly damaging	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Pycr3	T	C	15: 75,788,853 (GRCm39)	T240A	probably damaging	Het
Ralgapa1	C	A	12: 55,766,442 (GRCm39)	G1284V	probably damaging	Het
Rcl1	T	C	19: 29,120,698 (GRCm39)		probably benign	Het
Sec24c	C	T	14: 20,732,839 (GRCm39)	T134I	possibly damaging	Het
Sis	A	G	3: 72,843,253 (GRCm39)		probably benign	Het
Tlk1	T	C	2: 70,582,610 (GRCm39)	N173S	probably benign	Het
Uroc1	T	C	6: 90,340,082 (GRCm39)		probably benign	Het

Other mutations in Susd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Susd5	APN	9	113,893,052 (GRCm39)	missense	possibly damaging	0.85
IGL02739:Susd5	APN	9	113,925,101 (GRCm39)	missense	possibly damaging	0.72
H8441:Susd5	UTSW	9	113,925,253 (GRCm39)	nonsense	probably null
R0238:Susd5	UTSW	9	113,925,977 (GRCm39)	makesense	probably null
R0238:Susd5	UTSW	9	113,925,977 (GRCm39)	makesense	probably null
R0650:Susd5	UTSW	9	113,911,603 (GRCm39)	missense	possibly damaging	0.53
R0666:Susd5	UTSW	9	113,924,852 (GRCm39)	missense	possibly damaging	0.53
R1478:Susd5	UTSW	9	113,925,752 (GRCm39)	missense	probably benign
R1672:Susd5	UTSW	9	113,897,890 (GRCm39)	missense	probably damaging	0.99
R3416:Susd5	UTSW	9	113,924,726 (GRCm39)	missense	possibly damaging	0.85
R3965:Susd5	UTSW	9	113,925,260 (GRCm39)	missense	possibly damaging	0.72
R4182:Susd5	UTSW	9	113,925,053 (GRCm39)	missense	probably benign	0.12
R4514:Susd5	UTSW	9	113,924,992 (GRCm39)	missense	probably benign	0.18
R5373:Susd5	UTSW	9	113,911,653 (GRCm39)	missense	probably damaging	1.00
R5947:Susd5	UTSW	9	113,886,659 (GRCm39)	missense	possibly damaging	0.96
R6189:Susd5	UTSW	9	113,924,726 (GRCm39)	missense	probably damaging	0.98
R6349:Susd5	UTSW	9	113,924,870 (GRCm39)	missense	probably benign	0.33
R7535:Susd5	UTSW	9	113,893,108 (GRCm39)	missense	possibly damaging	0.92
R8973:Susd5	UTSW	9	113,911,572 (GRCm39)	missense	possibly damaging	0.86
R9143:Susd5	UTSW	9	113,924,879 (GRCm39)	missense	possibly damaging	0.86
R9145:Susd5	UTSW	9	113,925,289 (GRCm39)	missense	probably damaging	1.00
Z1176:Susd5	UTSW	9	113,925,208 (GRCm39)	missense	probably damaging	0.98
Z1177:Susd5	UTSW	9	113,893,135 (GRCm39)	frame shift	probably null

Posted On

2013-12-03