Mutagenetix > Incidental Mutation

Incidental Mutation 'R3421:Mgat4d'

267046

Institutional Source

Beutler Lab

Gene Symbol

Mgat4d

Ensembl Gene

ENSMUSG00000035057

Gene Name

MGAT4 family, member C

Synonyms

4933434I20Rik

MMRRC Submission

040639-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84075101-84106031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84084772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 172 (S172P)

Ref Sequence

ENSEMBL: ENSMUSP00000041629 (fasta)

Gene Model

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

AlphaFold

Q9D4R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038692
AA Change: S172P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: S172P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,350,697 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,770,900 (GRCm39)	T132A	probably benign	Het
Amn1	A	T	6: 149,070,950 (GRCm39)	L196*	probably null	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,686 (GRCm39)	D51N	probably damaging	Het
Brip1	A	T	11: 86,043,495 (GRCm39)	Y356*	probably null	Het
Ccdc40	C	T	11: 119,125,605 (GRCm39)	P348L	probably benign	Het
Chrdl2	G	A	7: 99,673,075 (GRCm39)	C9Y	probably damaging	Het
Chst4	T	C	8: 110,757,038 (GRCm39)	D192G	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
D930048N14Rik	T	C	11: 51,545,785 (GRCm39)	*226R	probably null	Het
Dmgdh	T	C	13: 93,847,869 (GRCm39)	V522A	probably benign	Het
Dtx2	T	A	5: 136,041,332 (GRCm39)	Y246N	probably damaging	Het
Gtf2ird1	T	A	5: 134,417,354 (GRCm39)	M518L	probably benign	Het
Hoxc6	T	A	15: 102,919,327 (GRCm39)	W188R	probably damaging	Het
Igfn1	C	T	1: 135,904,655 (GRCm39)		probably null	Het
Kcnip1	A	G	11: 33,595,594 (GRCm39)	V43A	probably damaging	Het
Kif4-ps	A	T	12: 101,113,230 (GRCm39)	E453V	probably damaging	Het
Kifap3	T	A	1: 163,621,595 (GRCm39)	I81N	probably damaging	Het
Mr1	T	C	1: 155,013,337 (GRCm39)	Y80C	probably damaging	Het
Nuak2	A	G	1: 132,259,818 (GRCm39)	D532G	probably benign	Het
Odad2	T	C	18: 7,223,523 (GRCm39)		probably benign	Het
Or1e1	A	G	11: 73,245,460 (GRCm39)	N294D	probably damaging	Het
Or4c123	C	G	2: 89,126,897 (GRCm39)	S239T	probably benign	Het
Or4g7	A	G	2: 111,309,297 (GRCm39)	H56R	probably benign	Het
Or4k15b	T	C	14: 50,271,997 (GRCm39)	T288A	possibly damaging	Het
Or8d1	A	G	9: 38,766,621 (GRCm39)	K88E	possibly damaging	Het
Pik3cg	A	T	12: 32,254,738 (GRCm39)	F416L	probably damaging	Het
Prex1	A	G	2: 166,459,774 (GRCm39)	V124A	probably damaging	Het
Psmb2	T	C	4: 126,571,630 (GRCm39)	M28T	probably damaging	Het
Ric1	T	C	19: 29,544,990 (GRCm39)	I230T	probably damaging	Het
Saysd1	T	A	14: 20,132,994 (GRCm39)	K54N	probably benign	Het
Slc25a17	C	T	15: 81,244,901 (GRCm39)	V11I	probably benign	Het
Slc5a4a	T	C	10: 76,012,407 (GRCm39)	V359A	probably benign	Het
Slc7a3	T	A	X: 100,124,481 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,213,964 (GRCm39)	D52E	possibly damaging	Het
Soat2	T	C	15: 102,065,244 (GRCm39)		probably benign	Het
Tafa1	C	A	6: 96,626,099 (GRCm39)	D112E	probably damaging	Het
Telo2	C	T	17: 25,329,726 (GRCm39)	R262Q	probably damaging	Het
Zdhhc14	T	A	17: 5,803,366 (GRCm39)	*490R	probably null	Het
Zfp217	A	G	2: 169,961,937 (GRCm39)	F130S	possibly damaging	Het
Zfp712	C	T	13: 67,200,456 (GRCm39)	V10M	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGACAGGGAAGAGACCAACTC -3'
(R):5'- CAGTTCTTGGAACAGCAAGTAC -3'

Sequencing Primer
(F):5'- CTCACTCACAGGGGTAAGTGTG -3'
(R):5'- TCCTAATGGAATAGCTGCT -3'

Posted On

2015-02-18