Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00233:Gm3238'

306857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm3238

Ensembl Gene

ENSMUSG00000095817

Gene Name

predicted gene 3238

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00233

Quality Score

Status

Chromosome

Chromosomal Location

77606467-77607159 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 77607126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000167669] [ENSMUST00000168298]

AlphaFold

W4VSP7

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167669

SMART Domains

Protein: ENSMUSP00000130212
Gene: ENSMUSG00000095593

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	7	66	1.1e-8	PFAM
Pfam:Keratin_B2_2	111	161	1.7e-5	PFAM
low complexity region	166	190	N/A	INTRINSIC
low complexity region	192	204	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000168298
AA Change: A12T

SMART Domains

Protein: ENSMUSP00000130008
Gene: ENSMUSG00000095817
AA Change: A12T

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	5	56	4.5e-9	PFAM
Pfam:Keratin_B2_2	22	66	6.6e-10	PFAM
Pfam:Keratin_B2_2	108	155	9e-9	PFAM
Pfam:Keratin_B2_2	153	198	2e-6	PFAM
Pfam:Keratin_B2_2	183	230	2.6e-4	PFAM

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
Aimp1	A	T	3: 132,382,904 (GRCm39)		probably benign	Het
Arpc5	A	G	1: 152,644,658 (GRCm39)	I64V	probably benign	Het
C030048H21Rik	G	A	2: 26,146,632 (GRCm39)	R1227W	probably damaging	Het
Cacnb1	T	C	11: 97,913,190 (GRCm39)	E21G	possibly damaging	Het
Catsper3	A	G	13: 55,946,635 (GRCm39)	K111E	possibly damaging	Het
Cda	T	C	4: 138,095,157 (GRCm39)	Y33C	probably damaging	Het
Celsr3	A	T	9: 108,726,124 (GRCm39)	R3118W	probably damaging	Het
Clvs1	G	A	4: 9,281,939 (GRCm39)	G128R	probably damaging	Het
Col9a1	A	G	1: 24,224,306 (GRCm39)	S163G	unknown	Het
Cyp4v3	T	C	8: 45,760,040 (GRCm39)	D64G	probably benign	Het
Dst	C	A	1: 34,290,920 (GRCm39)	L837M	probably damaging	Het
Eif2ak4	T	A	2: 118,294,536 (GRCm39)	I1349N	probably damaging	Het
Elob	C	A	17: 24,043,954 (GRCm39)		probably null	Het
Glipr1	T	A	10: 111,821,555 (GRCm39)	I216L	probably benign	Het
Gm43638	C	T	5: 87,608,258 (GRCm39)	R527H	probably damaging	Het
H2-M11	A	G	17: 36,858,445 (GRCm39)	K80E	probably benign	Het
Htt	A	G	5: 35,053,370 (GRCm39)		probably null	Het
Kif26a	A	G	12: 112,124,066 (GRCm39)	S224G	probably damaging	Het
Mgat5b	T	A	11: 116,822,488 (GRCm39)	M74K	probably damaging	Het
Ms4a7	A	T	19: 11,299,724 (GRCm39)	V89D	probably damaging	Het
Nlrx1	G	A	9: 44,175,365 (GRCm39)	T137I	probably benign	Het
Pcdhb12	A	G	18: 37,570,035 (GRCm39)	T394A	probably benign	Het
Pkhd1l1	T	C	15: 44,340,982 (GRCm39)	I151T	probably damaging	Het
Plcl1	T	C	1: 55,445,695 (GRCm39)	V50A	probably benign	Het
Prkd2	T	C	7: 16,599,787 (GRCm39)	F750S	probably damaging	Het
Psmd13	T	C	7: 140,477,534 (GRCm39)	V311A	probably damaging	Het
Rec8	C	T	14: 55,860,972 (GRCm39)	Q334*	probably null	Het
Rfx7	G	A	9: 72,514,972 (GRCm39)	V157I	probably damaging	Het
Sele	G	A	1: 163,879,403 (GRCm39)	C312Y	probably damaging	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tma16	G	T	8: 66,933,097 (GRCm39)	Q95K	probably benign	Het
Vmn1r191	T	C	13: 22,362,890 (GRCm39)	D288G	probably damaging	Het
Vmn1r231	A	T	17: 21,110,828 (GRCm39)	I29N	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,389 (GRCm39)	L750*	probably null	Het

Other mutations in Gm3238

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01160:Gm3238	APN	10	77,606,717 (GRCm39)	intron	probably benign
IGL02252:Gm3238	APN	10	77,606,691 (GRCm39)	intron	probably benign
R6849:Gm3238	UTSW	10	77,606,744 (GRCm39)	intron	probably benign
R7699:Gm3238	UTSW	10	77,606,469 (GRCm39)	makesense	probably null
R7700:Gm3238	UTSW	10	77,606,469 (GRCm39)	makesense	probably null
R8098:Gm3238	UTSW	10	77,606,474 (GRCm39)	missense	unknown
Z1176:Gm3238	UTSW	10	77,606,858 (GRCm39)	missense	unknown

Posted On

2015-04-16