Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02084:Mgat4d'

283448

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 #

IGL02084

Quality Score

Status

Chromosome

Chromosomal Location

84075101-84106031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84095610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 295 (S295L)

Ref Sequence

ENSEMBL: ENSMUSP00000041629 (fasta)

Gene Model

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

AlphaFold

Q9D4R2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038692
AA Change: S295L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: S295L

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,423 (GRCm39)	F1096L	probably benign	Het
Abcd2	T	A	15: 91,062,530 (GRCm39)		probably null	Het
Actr10	T	C	12: 71,001,423 (GRCm39)	I210T	probably damaging	Het
Apoa5	A	T	9: 46,181,950 (GRCm39)	D342V	probably damaging	Het
Bicra	G	A	7: 15,721,663 (GRCm39)	T618I	probably benign	Het
Birc6	C	A	17: 74,915,277 (GRCm39)	Q1642K	probably benign	Het
Cenpn	A	G	8: 117,667,634 (GRCm39)	Y331C	probably damaging	Het
Clcn7	T	A	17: 25,376,899 (GRCm39)	I624N	probably benign	Het
Eddm3b	A	T	14: 51,354,087 (GRCm39)	H25L	unknown	Het
Fam90a1a	A	G	8: 22,449,313 (GRCm39)	E19G	probably benign	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Fbxo41	A	T	6: 85,457,747 (GRCm39)		probably null	Het
Frem3	A	G	8: 81,339,072 (GRCm39)	D455G	possibly damaging	Het
Gart	T	C	16: 91,418,488 (GRCm39)	Q86R	probably benign	Het
Gm45234	T	C	6: 124,724,658 (GRCm39)		probably benign	Het
Gm5431	C	T	11: 48,779,912 (GRCm39)	D337N	probably benign	Het
Gm6882	T	A	7: 21,161,512 (GRCm39)	I119F	probably damaging	Het
Kcns3	C	T	12: 11,142,195 (GRCm39)	R168Q	probably damaging	Het
Klra17	T	A	6: 129,808,556 (GRCm39)	N226Y	probably damaging	Het
Macf1	T	C	4: 123,326,396 (GRCm39)	N2915D	probably benign	Het
Macf1	T	C	4: 123,353,167 (GRCm39)	D1504G	probably damaging	Het
Mslnl	T	C	17: 25,965,125 (GRCm39)	V497A	probably benign	Het
Mtor	T	C	4: 148,555,137 (GRCm39)	S920P	probably damaging	Het
Mynn	C	A	3: 30,665,764 (GRCm39)	H465Q	probably damaging	Het
Myo16	A	G	8: 10,411,088 (GRCm39)	E182G	probably damaging	Het
Ncln	T	C	10: 81,324,430 (GRCm39)	I417V	probably benign	Het
Nlrp4f	A	T	13: 65,341,985 (GRCm39)	C553*	probably null	Het
Or5k14	G	A	16: 58,693,399 (GRCm39)	T38I	probably damaging	Het
Or8k37	T	A	2: 86,469,980 (GRCm39)	Q24L	possibly damaging	Het
Pkhd1	T	C	1: 20,447,623 (GRCm39)	I2257V	probably damaging	Het
Ppp4r4	T	A	12: 103,566,657 (GRCm39)	S35T	possibly damaging	Het
Qrfprl	T	C	6: 65,358,594 (GRCm39)	V106A	probably benign	Het
Rnf213	T	C	11: 119,336,499 (GRCm39)	V3291A	probably benign	Het
Runx2	C	T	17: 45,035,716 (GRCm39)	A173T	probably damaging	Het
Ryr2	A	T	13: 11,807,648 (GRCm39)	Y833*	probably null	Het
Setbp1	G	A	18: 78,900,625 (GRCm39)	A1014V	probably damaging	Het
Slc25a38	A	G	9: 119,949,512 (GRCm39)		probably benign	Het
Stk4	A	G	2: 163,928,527 (GRCm39)	T120A	probably benign	Het
Taf3	A	T	2: 10,047,330 (GRCm39)	V106D	probably benign	Het
Uchl5	A	G	1: 143,677,912 (GRCm39)	I139V	possibly damaging	Het
Ung	A	G	5: 114,268,637 (GRCm39)	E25G	probably benign	Het
Wrn	A	G	8: 33,775,207 (GRCm39)	V619A	probably benign	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
IGL01634:Mgat4d	APN	8	84,094,745 (GRCm39)	missense	possibly damaging	0.71
IGL01987:Mgat4d	APN	8	84,094,731 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16