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

134468679-134477420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 134468928 bp (GRCm39)

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: 78,903,424 (GRCm39)	R297S	possibly damaging	Het
Abca13	G	A	11: 9,531,757 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,908,100 (GRCm39)	V94D	probably damaging	Het
Adgrv1	C	T	13: 81,726,973 (GRCm39)	A460T	probably benign	Het
Atp8a2	C	A	14: 60,162,571 (GRCm39)	E717*	probably null	Het
Brinp3	A	T	1: 146,577,587 (GRCm39)		probably null	Het
Camk1d	C	A	2: 5,359,516 (GRCm39)	V177L	probably benign	Het
Chst11	A	G	10: 83,027,538 (GRCm39)	I322V	possibly damaging	Het
Cobl	T	C	11: 12,293,869 (GRCm39)	T296A	possibly damaging	Het
Dcc	A	C	18: 71,511,749 (GRCm39)	F869V	possibly damaging	Het
Dock2	G	T	11: 34,583,086 (GRCm39)	T609K	probably damaging	Het
Ercc5	A	G	1: 44,206,814 (GRCm39)	T576A	probably benign	Het
Faf1	A	G	4: 109,719,090 (GRCm39)	I399V	probably benign	Het
Fndc3b	T	G	3: 27,592,388 (GRCm39)	E170A	probably damaging	Het
Ggt7	C	A	2: 155,344,633 (GRCm39)	V237L	probably benign	Het
Hectd1	G	T	12: 51,874,205 (GRCm39)	Q24K	possibly damaging	Het
Krt19	T	C	11: 100,032,235 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,370,239 (GRCm39)	L259P	probably damaging	Het
Limd1	T	C	9: 123,345,864 (GRCm39)	Y548H	probably damaging	Het
Lingo2	A	G	4: 35,708,744 (GRCm39)	I412T	probably damaging	Het
Lrrc34	T	A	3: 30,688,782 (GRCm39)	Q173L	probably damaging	Het
Lrrn3	A	T	12: 41,502,750 (GRCm39)	N522K	probably benign	Het
Nedd4l	A	G	18: 65,331,778 (GRCm39)	D638G	probably damaging	Het
Olfm3	T	C	3: 114,916,397 (GRCm39)	M423T	probably damaging	Het
Or8g54	T	C	9: 39,706,752 (GRCm39)	L27P	probably damaging	Het
Pcsk7	T	A	9: 45,838,897 (GRCm39)	I603N	possibly damaging	Het
Ptpn2	A	G	18: 67,814,580 (GRCm39)	V143A	probably damaging	Het
Rabgap1	C	A	2: 37,373,838 (GRCm39)	D283E	possibly damaging	Het
Reln	G	A	5: 22,200,363 (GRCm39)	S1379F	probably damaging	Het
Rpap2	T	A	5: 107,749,697 (GRCm39)	F74I	possibly damaging	Het
Sel1l2	T	C	2: 140,072,724 (GRCm39)	E637G	probably damaging	Het
Slc28a2b	T	C	2: 122,344,995 (GRCm39)		probably benign	Het
St18	T	A	1: 6,887,829 (GRCm39)	V466E	probably benign	Het
Stac	C	A	9: 111,433,198 (GRCm39)	G207C	probably damaging	Het
Stra6	T	A	9: 58,042,396 (GRCm39)	N8K	probably benign	Het
Sytl4	C	T	X: 132,838,727 (GRCm39)	R649Q	probably benign	Het
Tas1r3	A	G	4: 155,946,816 (GRCm39)	V263A	probably damaging	Het
Tprg1	T	C	16: 25,136,218 (GRCm39)	Y70H	probably damaging	Het

Other mutations in Mgat4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Mgat4e	APN	1	134,469,187 (GRCm39)	missense	probably damaging	1.00
IGL02863:Mgat4e	APN	1	134,468,896 (GRCm39)	missense	probably benign
FR4449:Mgat4e	UTSW	1	134,468,735 (GRCm39)	utr 3 prime	probably benign
PIT4480001:Mgat4e	UTSW	1	134,469,103 (GRCm39)	missense	possibly damaging	0.57
R0226:Mgat4e	UTSW	1	134,468,841 (GRCm39)	missense	probably benign
R1396:Mgat4e	UTSW	1	134,469,271 (GRCm39)	missense	probably benign	0.18
R1626:Mgat4e	UTSW	1	134,469,016 (GRCm39)	missense	probably benign	0.08
R2020:Mgat4e	UTSW	1	134,469,060 (GRCm39)	missense	probably damaging	1.00
R3011:Mgat4e	UTSW	1	134,469,846 (GRCm39)	missense	possibly damaging	0.77
R4748:Mgat4e	UTSW	1	134,469,766 (GRCm39)	missense	probably damaging	1.00
R4784:Mgat4e	UTSW	1	134,469,063 (GRCm39)	missense	probably damaging	0.98
R4859:Mgat4e	UTSW	1	134,469,478 (GRCm39)	missense	possibly damaging	0.84
R4894:Mgat4e	UTSW	1	134,468,856 (GRCm39)	missense	probably benign	0.23
R4910:Mgat4e	UTSW	1	134,469,602 (GRCm39)	missense	probably damaging	1.00
R5007:Mgat4e	UTSW	1	134,468,890 (GRCm39)	missense	probably benign	0.39
R5108:Mgat4e	UTSW	1	134,468,961 (GRCm39)	missense	probably benign	0.03
R5691:Mgat4e	UTSW	1	134,468,729 (GRCm39)	utr 3 prime	probably benign
R5994:Mgat4e	UTSW	1	134,469,234 (GRCm39)	missense	probably benign	0.05
R6467:Mgat4e	UTSW	1	134,468,944 (GRCm39)	missense	probably benign	0.01
R7155:Mgat4e	UTSW	1	134,469,697 (GRCm39)	missense	probably damaging	0.98
R7612:Mgat4e	UTSW	1	134,469,745 (GRCm39)	missense	probably damaging	1.00
R9046:Mgat4e	UTSW	1	134,474,742 (GRCm39)	missense	possibly damaging	0.53

Posted On

2016-08-02