Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01015:Gm43638'

53578

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 #

IGL01015

Quality Score

Status

Chromosome

Chromosomal Location

87608099-87634665 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87634473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 45 (R45*)

Ref Sequence

ENSEMBL: ENSMUSP00000143986 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079811

SMART Domains

Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268

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

probably benign
Transcript: ENSMUST00000144144

SMART Domains

Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268

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 null
Transcript: ENSMUST00000147854
AA Change: R45*

SMART Domains

Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: R45*

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 null
Transcript: ENSMUST00000201519
AA Change: R45*

SMART Domains

Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: R45*

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,870,961 (GRCm39)	Y238H	probably damaging	Het
Apol7a	T	C	15: 77,274,055 (GRCm39)		probably benign	Het
Cacna1d	A	T	14: 29,773,699 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,541,023 (GRCm39)	V2368A	probably damaging	Het
Creb3l4	A	G	3: 90,150,138 (GRCm39)	M1T	probably null	Het
Dpys	T	C	15: 39,710,045 (GRCm39)	D128G	probably damaging	Het
Ero1b	A	G	13: 12,616,623 (GRCm39)		probably null	Het
Fcgbpl1	T	C	7: 27,854,743 (GRCm39)	C1790R	probably damaging	Het
Fcgr4	A	G	1: 170,853,358 (GRCm39)	S188G	possibly damaging	Het
Fry	A	G	5: 150,346,252 (GRCm39)	D1587G	probably benign	Het
Gm7647	T	A	5: 95,111,746 (GRCm39)	C152S	probably benign	Het
Golga3	T	G	5: 110,335,583 (GRCm39)	M299R	probably benign	Het
Iqub	A	T	6: 24,501,005 (GRCm39)		probably benign	Het
Irak3	A	T	10: 119,978,695 (GRCm39)	Y493*	probably null	Het
Jakmip1	G	T	5: 37,242,750 (GRCm39)	E13*	probably null	Het
Morc3	G	A	16: 93,659,534 (GRCm39)	C446Y	probably damaging	Het
Mroh2b	G	A	15: 4,971,024 (GRCm39)	D1010N	probably damaging	Het
Or14c44	A	G	7: 86,061,998 (GRCm39)	T184A	probably damaging	Het
Or2y16	T	A	11: 49,335,201 (GRCm39)	N174K	probably damaging	Het
Or5m9	A	T	2: 85,876,996 (GRCm39)	M57L	possibly damaging	Het
Pkhd1	G	A	1: 20,593,482 (GRCm39)	H1544Y	possibly damaging	Het
Rps2-ps10	C	T	18: 61,392,896 (GRCm39)		probably benign	Het
Smco1	T	C	16: 32,092,887 (GRCm39)	V186A	probably damaging	Het
Snx1	C	T	9: 66,001,713 (GRCm39)	E314K	possibly damaging	Het
Timd2	T	C	11: 46,567,170 (GRCm39)	Y255C	probably benign	Het
Tnc	A	T	4: 63,935,571 (GRCm39)	I455K	probably benign	Het
Tsc22d1	A	G	14: 76,656,181 (GRCm39)	I31V	possibly damaging	Het
Tyk2	A	G	9: 21,031,996 (GRCm39)	S360P	probably benign	Het
Uroc1	G	T	6: 90,335,883 (GRCm39)		probably benign	Het
Vmn1r122	A	T	7: 20,867,761 (GRCm39)	V98E	probably damaging	Het

Other mutations in Gm43638

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Gm43638	APN	5	87,608,258 (GRCm39)	missense	probably damaging	0.98
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

2013-06-28