Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01634:Mgat4d'

93566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgat4d

Ensembl Gene

ENSMUSG00000035057

Gene Name

MGAT4 family, member C

Synonyms

4933434I20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01634

Quality Score

Status

Chromosome

Chromosomal Location

84075101-84106031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84094745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 261 (M261L)

Ref Sequence

ENSEMBL: ENSMUSP00000041629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038692]

AlphaFold

Q9D4R2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038692
AA Change: M261L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: M261L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_transf_54	70	373	5.9e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139692

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	T	1: 191,633,016 (GRCm39)		noncoding transcript	Het
4933421I07Rik	C	T	7: 42,097,123 (GRCm39)	D63N	probably benign	Het
Alg9	C	A	9: 50,686,677 (GRCm39)		probably null	Het
Anln	T	C	9: 22,271,771 (GRCm39)	T695A	probably benign	Het
Aox4	G	T	1: 58,261,089 (GRCm39)	D141Y	possibly damaging	Het
Arhgap21	C	A	2: 20,919,455 (GRCm39)	Q84H	probably benign	Het
Arnt	G	A	3: 95,377,709 (GRCm39)		probably benign	Het
Atp8a2	T	A	14: 60,235,511 (GRCm39)	Y677F	probably benign	Het
Car6	C	T	4: 150,282,610 (GRCm39)	V12M	probably benign	Het
Cd209d	A	T	8: 3,927,974 (GRCm39)		probably null	Het
Ctnna1	T	A	18: 35,356,501 (GRCm39)	V390E	probably damaging	Het
Cypt4	T	A	9: 24,536,952 (GRCm39)	N147K	possibly damaging	Het
Dnah10	C	A	5: 124,898,405 (GRCm39)	A3729E	probably damaging	Het
Dusp8	A	G	7: 141,638,160 (GRCm39)	V156A	probably benign	Het
Ecm1	G	A	3: 95,642,211 (GRCm39)	P458L	probably damaging	Het
Fat3	T	G	9: 15,909,654 (GRCm39)	Y2116S	probably damaging	Het
Fscn3	T	A	6: 28,430,537 (GRCm39)	Y236N	probably damaging	Het
Gaa	G	A	11: 119,164,902 (GRCm39)	S265N	possibly damaging	Het
Gas7	T	C	11: 67,565,057 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,166,438 (GRCm39)	K297R	probably damaging	Het
Gm1818	G	A	12: 48,602,992 (GRCm39)		noncoding transcript	Het
Gm5114	G	T	7: 39,058,071 (GRCm39)	T516K	probably benign	Het
Hectd1	A	G	12: 51,850,562 (GRCm39)	S165P	probably damaging	Het
Hoxb4	G	T	11: 96,209,726 (GRCm39)	R44L	probably damaging	Het
Ivd	G	A	2: 118,706,863 (GRCm39)	R285H	probably damaging	Het
Krtap20-2	T	C	16: 89,002,977 (GRCm39)	F59S	unknown	Het
Megf8	G	A	7: 25,058,206 (GRCm39)		probably benign	Het
Mlc1	A	T	15: 88,858,921 (GRCm39)		probably benign	Het
Mmp20	T	A	9: 7,635,149 (GRCm39)	Y43*	probably null	Het
Morc3	G	A	16: 93,670,125 (GRCm39)	V767I	probably benign	Het
Myo15a	A	G	11: 60,386,298 (GRCm39)	T1808A	probably damaging	Het
Notch4	T	C	17: 34,791,562 (GRCm39)	F574L	probably damaging	Het
Npas3	G	A	12: 53,993,946 (GRCm39)	V164M	probably damaging	Het
Nptx1	A	G	11: 119,435,498 (GRCm39)	Y273H	probably damaging	Het
Oaf	T	C	9: 43,135,301 (GRCm39)	N159S	probably damaging	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or4c111	T	A	2: 88,843,788 (GRCm39)	I207F	probably damaging	Het
Or5ak24	A	T	2: 85,260,783 (GRCm39)	L130H	probably damaging	Het
Pgm2	T	C	5: 64,258,317 (GRCm39)	F101L	probably benign	Het
Pkd1l3	A	C	8: 110,394,157 (GRCm39)		probably null	Het
Plcd1	C	T	9: 118,902,857 (GRCm39)	R527H	probably damaging	Het
Rexo2	C	T	9: 48,380,215 (GRCm39)	E206K	probably damaging	Het
Ropn1	C	A	16: 34,487,148 (GRCm39)	T28N	possibly damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpgrip1l	C	A	8: 91,979,171 (GRCm39)	S998I	probably benign	Het
Rpgrip1l	T	A	8: 91,979,172 (GRCm39)	S998C	probably benign	Het
Scap	T	C	9: 110,207,857 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,401,150 (GRCm39)	Y4H	probably damaging	Het
Sfrp4	C	A	13: 19,807,800 (GRCm39)	D66E	possibly damaging	Het
Slc25a36	T	C	9: 96,962,534 (GRCm39)	T13A	probably benign	Het
Synpr	A	T	14: 13,608,576 (GRCm38)	I119F	possibly damaging	Het
Tamm41	A	C	6: 114,993,059 (GRCm39)	H109Q	probably benign	Het
Tet1	A	T	10: 62,714,367 (GRCm39)	I476K	possibly damaging	Het
Tg	A	T	15: 66,601,415 (GRCm39)	I142F	probably benign	Het
Thada	A	T	17: 84,700,786 (GRCm39)		probably null	Het
Triobp	T	C	15: 78,877,568 (GRCm39)	L1654P	probably damaging	Het
Trpm7	A	G	2: 126,668,738 (GRCm39)	V726A	probably damaging	Het
Txndc15	T	G	13: 55,869,438 (GRCm39)	V197G	probably damaging	Het
Ubr3	A	T	2: 69,803,916 (GRCm39)	T1169S	probably benign	Het
Uhmk1	C	T	1: 170,034,682 (GRCm39)		probably null	Het
Vmn2r16	T	A	5: 109,488,177 (GRCm39)	M350K	probably benign	Het
Vmn2r77	G	A	7: 86,460,857 (GRCm39)	V728I	probably benign	Het
Wipf1	G	A	2: 73,278,225 (GRCm39)	P7S	unknown	Het
Zswim3	A	G	2: 164,661,922 (GRCm39)	D134G	probably damaging	Het

Other mutations in Mgat4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Mgat4d	APN	8	84,081,425 (GRCm39)	missense	probably benign	0.21
IGL01987:Mgat4d	APN	8	84,094,731 (GRCm39)	missense	probably damaging	1.00
IGL02084:Mgat4d	APN	8	84,095,610 (GRCm39)	missense	possibly damaging	0.72
R0546:Mgat4d	UTSW	8	84,082,350 (GRCm39)	missense	possibly damaging	0.94
R1322:Mgat4d	UTSW	8	84,092,354 (GRCm39)	missense	possibly damaging	0.74
R1526:Mgat4d	UTSW	8	84,095,666 (GRCm39)	missense	probably benign	0.25
R1617:Mgat4d	UTSW	8	84,092,340 (GRCm39)	missense	probably damaging	1.00
R2223:Mgat4d	UTSW	8	84,082,301 (GRCm39)	splice site	probably benign
R3157:Mgat4d	UTSW	8	84,081,450 (GRCm39)	missense	probably benign
R3421:Mgat4d	UTSW	8	84,084,772 (GRCm39)	missense	probably damaging	1.00
R3422:Mgat4d	UTSW	8	84,084,772 (GRCm39)	missense	probably damaging	1.00
R4387:Mgat4d	UTSW	8	84,098,335 (GRCm39)	missense	probably damaging	1.00
R4796:Mgat4d	UTSW	8	84,084,749 (GRCm39)	missense	probably damaging	1.00
R4805:Mgat4d	UTSW	8	84,084,787 (GRCm39)	splice site	probably null
R5054:Mgat4d	UTSW	8	84,094,837 (GRCm39)	splice site	probably null
R6366:Mgat4d	UTSW	8	84,095,580 (GRCm39)	splice site	probably null
R6927:Mgat4d	UTSW	8	84,081,496 (GRCm39)	missense	probably benign	0.03
R7053:Mgat4d	UTSW	8	84,098,261 (GRCm39)	missense	probably damaging	0.98
R7554:Mgat4d	UTSW	8	84,082,402 (GRCm39)	missense	probably benign	0.00
R7566:Mgat4d	UTSW	8	84,084,652 (GRCm39)	missense	probably damaging	1.00
R7965:Mgat4d	UTSW	8	84,084,722 (GRCm39)	missense	possibly damaging	0.95
R8111:Mgat4d	UTSW	8	84,094,776 (GRCm39)	missense	probably damaging	0.96
R8344:Mgat4d	UTSW	8	84,094,762 (GRCm39)	missense	probably benign	0.01
Z1176:Mgat4d	UTSW	8	84,094,741 (GRCm39)	missense	probably benign	0.39
Z1176:Mgat4d	UTSW	8	84,075,150 (GRCm39)	missense	probably benign	0.04

Posted On

2013-12-09