Mutagenetix > Incidental Mutation

Incidental Mutation 'R7965:Mgat4d'

650324

Institutional Source

Beutler Lab

Gene Symbol

Mgat4d

Ensembl Gene

ENSMUSG00000035057

Gene Name

MGAT4 family, member C

Synonyms

4933434I20Rik

MMRRC Submission

046008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7965 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84075101-84106031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84084722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 155 (V155A)

Ref Sequence

ENSEMBL: ENSMUSP00000041629 (fasta)

Gene Model

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

AlphaFold

Q9D4R2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038692
AA Change: V155A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: V155A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,791,465 (GRCm39)	T154A		Het
Arhgap21	A	G	2: 20,854,007 (GRCm39)	I1795T	probably damaging	Het
Arhgef4	T	C	1: 34,850,762 (GRCm39)	V436A	probably benign	Het
Bche	A	T	3: 73,609,149 (GRCm39)	N92K	probably damaging	Het
Bmp2	C	T	2: 133,403,105 (GRCm39)	H219Y	probably benign	Het
Cables1	T	G	18: 11,973,269 (GRCm39)	V136G	probably benign	Het
Cacna1d	G	A	14: 29,769,270 (GRCm39)	R1887*	probably null	Het
Chrd	A	G	16: 20,557,903 (GRCm39)	E774G	probably benign	Het
Chrna2	A	G	14: 66,388,525 (GRCm39)	*513W	probably null	Het
Cracr2b	T	C	7: 141,044,161 (GRCm39)	F131S	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyfip1	T	A	7: 55,546,523 (GRCm39)	I545N	possibly damaging	Het
Enpp3	T	A	10: 24,654,717 (GRCm39)	T654S	possibly damaging	Het
Glce	A	G	9: 61,968,228 (GRCm39)	S308P	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmmr	A	C	11: 40,606,256 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,464 (GRCm39)	N178D	probably benign	Het
Igkv10-94	A	T	6: 68,681,595 (GRCm39)	F82I	probably damaging	Het
Igkv1-133	A	T	6: 67,702,578 (GRCm39)	K99*	probably null	Het
Il4i1	A	G	7: 44,489,819 (GRCm39)	Q528R	probably benign	Het
Inhba	G	T	13: 16,201,572 (GRCm39)	G378V	possibly damaging	Het
Katna1	T	C	10: 7,614,623 (GRCm39)	S44P	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Morc2b	C	T	17: 33,354,746 (GRCm39)	E1009K	possibly damaging	Het
Myo9a	T	A	9: 59,695,721 (GRCm39)	L341H	probably damaging	Het
Nell2	C	T	15: 95,129,216 (GRCm39)	D716N	probably damaging	Het
Or1n2	A	G	2: 36,796,953 (GRCm39)		probably benign	Het
Or5t16	A	G	2: 86,818,707 (GRCm39)	V271A	probably benign	Het
Or8g36	C	T	9: 39,422,810 (GRCm39)	V69I	probably benign	Het
Or8k30	A	G	2: 86,338,815 (GRCm39)	H4R	probably benign	Het
Ppp1r37	T	C	7: 19,265,868 (GRCm39)	T633A	probably damaging	Het
Prdm10	A	G	9: 31,258,302 (GRCm39)	K576E	probably damaging	Het
Prl2c5	G	T	13: 13,360,469 (GRCm39)	M45I	probably benign	Het
Rigi	C	A	4: 40,223,824 (GRCm39)	G397*	probably null	Het
Rnf44	A	G	13: 54,830,667 (GRCm39)	S247P	probably benign	Het
Scn3a	A	G	2: 65,336,555 (GRCm39)	F684L	probably damaging	Het
Skint2	T	A	4: 112,502,648 (GRCm39)	M286K	probably benign	Het
Slc39a9	G	A	12: 80,713,450 (GRCm39)	G116D	probably damaging	Het
Smchd1	G	A	17: 71,762,621 (GRCm39)	T206I	possibly damaging	Het
Tmem161a	C	T	8: 70,630,154 (GRCm39)		probably benign	Het
Trpm6	T	A	19: 18,853,474 (GRCm39)	H1831Q	probably damaging	Het
Trpm7	A	T	2: 126,667,614 (GRCm39)	H792Q	probably damaging	Het
Ttc6	A	G	12: 57,720,542 (GRCm39)	Q936R	possibly damaging	Het
Usp53	A	T	3: 122,756,531 (GRCm39)		probably null	Het
Vmn1r236	T	A	17: 21,507,696 (GRCm39)	C271*	probably null	Het
Vmn2r70	T	A	7: 85,211,071 (GRCm39)	M547L	probably damaging	Het
Vwa5b1	G	A	4: 138,332,800 (GRCm39)	T254M	probably damaging	Het
Zc3h4	T	C	7: 16,163,770 (GRCm39)	F655S	unknown	Het
Zfp605	G	A	5: 110,275,316 (GRCm39)	G145S	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
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
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'- TCTTGACAGGGAAGAGACCAAC -3'
(R):5'- TACAGTTCTTGGAACAGCAAGTAC -3'

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

Posted On

2020-09-15