Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02999:Mgat4e'

407230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgat4e

Ensembl Gene

ENSMUSG00000046367

Gene Name

MGAT4 family, member E

Synonyms

4931440L10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02999

Quality Score

Status

Chromosome

Chromosomal Location

134540941-134549682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 134541190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 372 (L372R)

Ref Sequence

ENSEMBL: ENSMUSP00000133717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052911] [ENSMUST00000172898] [ENSMUST00000185836]

AlphaFold

A6H684

Predicted Effect

probably damaging
Transcript: ENSMUST00000052911
AA Change: L372R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: L372R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	35	266	5e-61	PFAM
low complexity region	425	438	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172898
AA Change: L372R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: L372R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	33	268	5.9e-61	PFAM
low complexity region	425	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185836

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 79,067,590 (GRCm38)	R297S	possibly damaging	Het
Abca13	G	A	11: 9,581,757 (GRCm38)		probably benign	Het
Acot12	T	A	13: 91,759,981 (GRCm38)	V94D	probably damaging	Het
Adgrv1	C	T	13: 81,578,854 (GRCm38)	A460T	probably benign	Het
Atp8a2	C	A	14: 59,925,122 (GRCm38)	E717*	probably null	Het
Brinp3	A	T	1: 146,701,849 (GRCm38)		probably null	Het
Camk1d	C	A	2: 5,354,705 (GRCm38)	V177L	probably benign	Het
Chst11	A	G	10: 83,191,704 (GRCm38)	I322V	possibly damaging	Het
Cobl	T	C	11: 12,343,869 (GRCm38)	T296A	possibly damaging	Het
Dcc	A	C	18: 71,378,678 (GRCm38)	F869V	possibly damaging	Het
Dock2	G	T	11: 34,692,259 (GRCm38)	T609K	probably damaging	Het
Ercc5	A	G	1: 44,167,654 (GRCm38)	T576A	probably benign	Het
Faf1	A	G	4: 109,861,893 (GRCm38)	I399V	probably benign	Het
Fndc3b	T	G	3: 27,538,239 (GRCm38)	E170A	probably damaging	Het
Ggt7	C	A	2: 155,502,713 (GRCm38)	V237L	probably benign	Het
Hectd1	G	T	12: 51,827,422 (GRCm38)	Q24K	possibly damaging	Het
Krt19	T	C	11: 100,141,409 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,494,143 (GRCm38)	L259P	probably damaging	Het
Limd1	T	C	9: 123,516,799 (GRCm38)	Y548H	probably damaging	Het
Lingo2	A	G	4: 35,708,744 (GRCm38)	I412T	probably damaging	Het
Lrrc34	T	A	3: 30,634,633 (GRCm38)	Q173L	probably damaging	Het
Lrrn3	A	T	12: 41,452,751 (GRCm38)	N522K	probably benign	Het
Nedd4l	A	G	18: 65,198,707 (GRCm38)	D638G	probably damaging	Het
Olfm3	T	C	3: 115,122,748 (GRCm38)	M423T	probably damaging	Het
Or8g54	T	C	9: 39,795,456 (GRCm38)	L27P	probably damaging	Het
Pcsk7	T	A	9: 45,927,599 (GRCm38)	I603N	possibly damaging	Het
Ptpn2	A	G	18: 67,681,510 (GRCm38)	V143A	probably damaging	Het
Rabgap1	C	A	2: 37,483,826 (GRCm38)	D283E	possibly damaging	Het
Reln	G	A	5: 21,995,365 (GRCm38)	S1379F	probably damaging	Het
Rpap2	T	A	5: 107,601,831 (GRCm38)	F74I	possibly damaging	Het
Sel1l2	T	C	2: 140,230,804 (GRCm38)	E637G	probably damaging	Het
Slc28a2b	T	C	2: 122,514,514 (GRCm38)		probably benign	Het
St18	T	A	1: 6,817,605 (GRCm38)	V466E	probably benign	Het
Stac	C	A	9: 111,604,130 (GRCm38)	G207C	probably damaging	Het
Stra6	T	A	9: 58,135,113 (GRCm38)	N8K	probably benign	Het
Sytl4	C	T	X: 133,937,978 (GRCm38)	R649Q	probably benign	Het
Tas1r3	A	G	4: 155,862,359 (GRCm38)	V263A	probably damaging	Het
Tprg1	T	C	16: 25,317,468 (GRCm38)	Y70H	probably damaging	Het

Other mutations in Mgat4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Mgat4e	APN	1	134,541,449 (GRCm38)	missense	probably damaging	1.00
IGL02863:Mgat4e	APN	1	134,541,158 (GRCm38)	missense	probably benign
FR4449:Mgat4e	UTSW	1	134,540,997 (GRCm38)	utr 3 prime	probably benign
PIT4480001:Mgat4e	UTSW	1	134,541,365 (GRCm38)	missense	possibly damaging	0.57
R0226:Mgat4e	UTSW	1	134,541,103 (GRCm38)	missense	probably benign
R1396:Mgat4e	UTSW	1	134,541,533 (GRCm38)	missense	probably benign	0.18
R1626:Mgat4e	UTSW	1	134,541,278 (GRCm38)	missense	probably benign	0.08
R2020:Mgat4e	UTSW	1	134,541,322 (GRCm38)	missense	probably damaging	1.00
R3011:Mgat4e	UTSW	1	134,542,108 (GRCm38)	missense	possibly damaging	0.77
R4748:Mgat4e	UTSW	1	134,542,028 (GRCm38)	missense	probably damaging	1.00
R4784:Mgat4e	UTSW	1	134,541,325 (GRCm38)	missense	probably damaging	0.98
R4859:Mgat4e	UTSW	1	134,541,740 (GRCm38)	missense	possibly damaging	0.84
R4894:Mgat4e	UTSW	1	134,541,118 (GRCm38)	missense	probably benign	0.23
R4910:Mgat4e	UTSW	1	134,541,864 (GRCm38)	missense	probably damaging	1.00
R5007:Mgat4e	UTSW	1	134,541,152 (GRCm38)	missense	probably benign	0.39
R5108:Mgat4e	UTSW	1	134,541,223 (GRCm38)	missense	probably benign	0.03
R5691:Mgat4e	UTSW	1	134,540,991 (GRCm38)	utr 3 prime	probably benign
R5994:Mgat4e	UTSW	1	134,541,496 (GRCm38)	missense	probably benign	0.05
R6467:Mgat4e	UTSW	1	134,541,206 (GRCm38)	missense	probably benign	0.01
R7155:Mgat4e	UTSW	1	134,541,959 (GRCm38)	missense	probably damaging	0.98
R7612:Mgat4e	UTSW	1	134,542,007 (GRCm38)	missense	probably damaging	1.00
R9046:Mgat4e	UTSW	1	134,547,004 (GRCm38)	missense	possibly damaging	0.53

Posted On

2016-08-02