Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00233:Gm43638'

306837

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm43638

Ensembl Gene

ENSMUSG00000107180

Gene Name

predicted gene 43638

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00233

Quality Score

Status

Chromosome

Chromosomal Location

87608099-87634665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87608258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 527 (R527H)

Ref Sequence

ENSEMBL: ENSMUSP00000114583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079811
AA Change: R527H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: R527H

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:UDPGT	22	525	3.5e-233	PFAM
Pfam:Glyco_tran_28_C	332	453	1.4e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144144
AA Change: R279H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268
AA Change: R279H

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	277	2.3e-168	PFAM
Pfam:Glyco_tran_28_C	100	203	7.4e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147854
AA Change: R527H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: R527H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDPGT	21	525	1.2e-235	PFAM
Pfam:Glyco_tran_28_C	332	453	1.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201519
AA Change: R693H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: R693H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDPGT	21	240	2.3e-54	PFAM
Pfam:UDPGT	236	499	2.9e-75	PFAM
Pfam:UDPGT	498	691	2.6e-116	PFAM
Pfam:Glyco_tran_28_C	512	618	3.1e-6	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
Gm3238	C	T	10: 77,607,126 (GRCm39)		probably benign	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 Gm43638

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Gm43638	APN	5	87,634,473 (GRCm39)	nonsense	probably null
IGL01081:Gm43638	APN	5	87,634,455 (GRCm39)	missense	probably damaging	1.00
IGL01296:Gm43638	APN	5	87,608,451 (GRCm39)	missense	probably benign	0.22
IGL01449:Gm43638	APN	5	87,634,074 (GRCm39)	missense	possibly damaging	0.95
IGL01767:Gm43638	APN	5	87,613,290 (GRCm39)	missense	probably damaging	1.00
IGL02412:Gm43638	APN	5	87,633,995 (GRCm39)	missense	possibly damaging	0.95
IGL02684:Gm43638	APN	5	87,610,769 (GRCm39)	missense	possibly damaging	0.51
IGL03343:Gm43638	APN	5	87,608,484 (GRCm39)	missense	possibly damaging	0.85
R0233:Gm43638	UTSW	5	87,622,860 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16