Mutagenetix > Incidental Mutation

Incidental Mutation 'R4387:Mgat4d'

326274

Institutional Source

Beutler Lab

Gene Symbol

Mgat4d

Ensembl Gene

ENSMUSG00000035057

Gene Name

MGAT4 family, member C

Synonyms

4933434I20Rik

MMRRC Submission

041681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4387 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83348471-83382320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83371706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 366 (Q366L)

Ref Sequence

ENSEMBL: ENSMUSP00000041629 (fasta)

Gene Model

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

AlphaFold

Q9D4R2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038692
AA Change: Q366L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: Q366L

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,316,574 (GRCm38)		probably null	Het
9930021J03Rik	A	G	19: 29,805,315 (GRCm38)		probably benign	Het
Adprm	C	T	11: 67,038,193 (GRCm38)	R324K	probably benign	Het
AI481877	A	T	4: 59,060,915 (GRCm38)	C953S	possibly damaging	Het
Calcr	T	A	6: 3,707,581 (GRCm38)	N240Y	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cd209b	A	G	8: 3,925,960 (GRCm38)	L67P	probably damaging	Het
Cp	T	C	3: 19,977,202 (GRCm38)	V601A	probably damaging	Het
Cyp2a5	A	G	7: 26,841,054 (GRCm38)	D364G	probably damaging	Het
Eno4	T	A	19: 58,953,208 (GRCm38)	V187D	probably benign	Het
Fbxl7	C	A	15: 26,543,259 (GRCm38)	S434I	probably damaging	Het
Fbxw24	A	T	9: 109,609,985 (GRCm38)	L174Q	probably damaging	Het
Fryl	T	A	5: 73,086,560 (GRCm38)	R91S	possibly damaging	Het
Gabrd	A	G	4: 155,388,932 (GRCm38)		probably null	Het
Gtpbp2	A	G	17: 46,166,358 (GRCm38)	D383G	probably benign	Het
Igf1r	A	G	7: 68,170,009 (GRCm38)	I356V	probably benign	Het
Kcnc1	C	A	7: 46,397,702 (GRCm38)	R9S	possibly damaging	Het
Lipi	T	A	16: 75,573,955 (GRCm38)	I125F	probably damaging	Het
Meig1	T	C	2: 3,409,241 (GRCm38)	E74G	probably damaging	Het
Mrpl1	A	G	5: 96,238,919 (GRCm38)	N256D	possibly damaging	Het
Nlrp4e	A	G	7: 23,301,477 (GRCm38)	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,321,227 (GRCm38)	I380V	probably benign	Het
Nphp3	A	G	9: 104,030,020 (GRCm38)	T740A	possibly damaging	Het
Olfr1080	T	C	2: 86,553,954 (GRCm38)	T57A	probably damaging	Het
Olfr1090	T	A	2: 86,754,120 (GRCm38)	D206V	probably benign	Het
Olfr262	A	G	19: 12,241,139 (GRCm38)	V174A	probably damaging	Het
Pde5a	T	C	3: 122,729,352 (GRCm38)	I36T	probably benign	Het
Pign	A	T	1: 105,522,060 (GRCm38)	L914M	possibly damaging	Het
Ppm1b	A	G	17: 85,015,419 (GRCm38)	D382G	probably benign	Het
Psd3	T	C	8: 68,000,761 (GRCm38)	Y282C	probably damaging	Het
Ptprt	A	T	2: 161,927,650 (GRCm38)	Y432N	probably damaging	Het
Rbbp6	T	C	7: 122,997,311 (GRCm38)		probably null	Het
Recql4	A	G	15: 76,705,958 (GRCm38)	S659P	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,283 (GRCm38)		noncoding transcript	Het
Slit3	T	C	11: 35,684,048 (GRCm38)	V1063A	probably benign	Het
Spdye4a	A	G	5: 143,225,623 (GRCm38)	V62A	probably benign	Het
Ttc6	G	A	12: 57,643,050 (GRCm38)	G509S	probably benign	Het
Ush2a	C	T	1: 188,443,431 (GRCm38)	T1242M	probably benign	Het
Wwc2	T	C	8: 47,831,646 (GRCm38)	S1155G	unknown	Het
Zfp551	A	T	7: 12,418,641 (GRCm38)	I55N	probably damaging	Het

Other mutations in Mgat4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Mgat4d	APN	8	83,354,796 (GRCm38)	missense	probably benign	0.21
IGL01634:Mgat4d	APN	8	83,368,116 (GRCm38)	missense	possibly damaging	0.71
IGL01987:Mgat4d	APN	8	83,368,102 (GRCm38)	missense	probably damaging	1.00
IGL02084:Mgat4d	APN	8	83,368,981 (GRCm38)	missense	possibly damaging	0.72
R0546:Mgat4d	UTSW	8	83,355,721 (GRCm38)	missense	possibly damaging	0.94
R1322:Mgat4d	UTSW	8	83,365,725 (GRCm38)	missense	possibly damaging	0.74
R1526:Mgat4d	UTSW	8	83,369,037 (GRCm38)	missense	probably benign	0.25
R1617:Mgat4d	UTSW	8	83,365,711 (GRCm38)	missense	probably damaging	1.00
R2223:Mgat4d	UTSW	8	83,355,672 (GRCm38)	splice site	probably benign
R3157:Mgat4d	UTSW	8	83,354,821 (GRCm38)	missense	probably benign
R3421:Mgat4d	UTSW	8	83,358,143 (GRCm38)	missense	probably damaging	1.00
R3422:Mgat4d	UTSW	8	83,358,143 (GRCm38)	missense	probably damaging	1.00
R4796:Mgat4d	UTSW	8	83,358,120 (GRCm38)	missense	probably damaging	1.00
R4805:Mgat4d	UTSW	8	83,358,158 (GRCm38)	splice site	probably null
R5054:Mgat4d	UTSW	8	83,368,208 (GRCm38)	splice site	probably null
R6366:Mgat4d	UTSW	8	83,368,951 (GRCm38)	splice site	probably null
R6927:Mgat4d	UTSW	8	83,354,867 (GRCm38)	missense	probably benign	0.03
R7053:Mgat4d	UTSW	8	83,371,632 (GRCm38)	missense	probably damaging	0.98
R7554:Mgat4d	UTSW	8	83,355,773 (GRCm38)	missense	probably benign	0.00
R7566:Mgat4d	UTSW	8	83,358,023 (GRCm38)	missense	probably damaging	1.00
R7965:Mgat4d	UTSW	8	83,358,093 (GRCm38)	missense	possibly damaging	0.95
R8111:Mgat4d	UTSW	8	83,368,147 (GRCm38)	missense	probably damaging	0.96
R8344:Mgat4d	UTSW	8	83,368,133 (GRCm38)	missense	probably benign	0.01
Z1176:Mgat4d	UTSW	8	83,368,112 (GRCm38)	missense	probably benign	0.39
Z1176:Mgat4d	UTSW	8	83,348,521 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCCTAAGAACAGTAAGTGTGGTAG -3'
(R):5'- TCTGTTTGGACCACACAGC -3'

Sequencing Primer
(F):5'- TAGAAAGTGGTACTGGGGCCC -3'
(R):5'- TCTGTTTGGACCACACAGCTAAAAAG -3'

Posted On

2015-07-06