Mutagenetix > Incidental Mutations

Incidental Mutation 'R1396:Mgat4e'

162621

Institutional Source

Beutler Lab

Gene Symbol

Mgat4e

Ensembl Gene

ENSMUSG00000046367

Gene Name

MGAT4 family, member E

Synonyms

4931440L10Rik

MMRRC Submission

039458-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134540941-134549682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134541533 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 258 (T258A)

Ref Sequence

ENSEMBL: ENSMUSP00000133717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052911] [ENSMUST00000172898] [ENSMUST00000185836]

Predicted Effect

probably benign
Transcript: ENSMUST00000052911
AA Change: T258A

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: T258A

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	35	266	5e-61	PFAM
low complexity region	425	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172898
AA Change: T258A

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: T258A

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	33	268	5.9e-61	PFAM
low complexity region	425	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185836

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,551	N248S	probably benign	Het
4930486L24Rik	G	A	13: 60,853,243	P160S	probably benign	Het
Adamts12	G	T	15: 11,311,472	D1272Y	probably benign	Het
Akr1c20	A	T	13: 4,507,727	V267D	probably damaging	Het
C1s1	A	G	6: 124,531,051	S660P	probably damaging	Het
Ccdc40	A	G	11: 119,231,803	T144A	possibly damaging	Het
Cdk20	T	C	13: 64,437,403	I167T	probably damaging	Het
Chd6	A	G	2: 160,983,103	L1212S	probably damaging	Het
Clock	G	C	5: 76,266,802	D15E	probably benign	Het
Clstn2	A	G	9: 97,461,393	V667A	probably benign	Het
Cr2	A	T	1: 195,169,253		probably null	Het
Cyp2e1	A	G	7: 140,773,079	D343G	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Etf1	G	A	18: 34,908,167	T298I	possibly damaging	Het
Gm5431	T	C	11: 48,895,434		probably benign	Het
Gss	G	A	2: 155,567,721	T265I	probably damaging	Het
Heatr1	C	T	13: 12,406,046	S406L	possibly damaging	Het
Hgsnat	C	A	8: 25,957,335	M310I	possibly damaging	Het
Inpp5b	G	A	4: 124,789,080	R598H	probably damaging	Het
Ints2	G	T	11: 86,249,248	Q253K	probably damaging	Het
Kng1	A	G	16: 23,078,980	M377V	probably benign	Het
Krt72	C	T	15: 101,786,005		probably null	Het
Lemd2	G	C	17: 27,190,732	R482G	probably damaging	Het
Lrpprc	C	T	17: 84,726,303	D1049N	possibly damaging	Het
Lrrc49	A	T	9: 60,680,527	H117Q	probably damaging	Het
Mcm6	A	T	1: 128,351,476	F191Y	probably damaging	Het
Mecom	T	C	3: 29,979,800	T252A	possibly damaging	Het
Mpeg1	A	G	19: 12,462,804	N542S	probably damaging	Het
Nln	C	T	13: 104,061,753	V184I	probably benign	Het
Nova1	A	C	12: 46,816,893	F91L	unknown	Het
Polk	T	C	13: 96,484,208	I516V	probably benign	Het
Ppig	C	T	2: 69,749,018	P357S	unknown	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rasal2	A	T	1: 157,164,666	H552Q	probably damaging	Het
Rnf41	G	A	10: 128,435,571	E117K	probably benign	Het
Sbk3	A	G	7: 4,967,453	Y306H	possibly damaging	Het
Senp1	A	G	15: 98,076,554	S126P	probably benign	Het
Sfr1	A	G	19: 47,733,690	K182E	probably benign	Het
Slc25a4	C	A	8: 46,209,288	R111L	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Stard4	A	T	18: 33,206,210	N80K	probably damaging	Het
Tbk1	G	A	10: 121,571,916	T104M	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tmem102	A	T	11: 69,804,370	W259R	probably damaging	Het
Tnk1	A	T	11: 69,853,136	C466S	probably benign	Het
Tspoap1	A	C	11: 87,766,120	Q307P	probably damaging	Het
Ugt2b35	A	G	5: 87,011,530	N528D	possibly damaging	Het
Usp6nl	A	G	2: 6,426,998		probably null	Het
Vmn1r203	C	T	13: 22,524,508	T153M	probably benign	Het
Vmn1r89	T	A	7: 13,220,011	S157T	probably damaging	Het
Vmn2r103	A	T	17: 19,792,968	Y117F	probably benign	Het
Vmn2r116	A	C	17: 23,386,141	M143L	probably benign	Het
Vmn2r62	A	T	7: 42,764,837	D727E	probably damaging	Het
Vps13c	A	G	9: 67,955,022	I2974V	probably benign	Het
Wrn	C	T	8: 33,268,819	G769D	probably damaging	Het
Zhx3	T	A	2: 160,781,020	H409L	possibly damaging	Het

Other mutations in Mgat4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Mgat4e	APN	1	134541449	missense	probably damaging	1.00
IGL02863:Mgat4e	APN	1	134541158	missense	probably benign
IGL02999:Mgat4e	APN	1	134541190	missense	probably damaging	1.00
FR4449:Mgat4e	UTSW	1	134540997	utr 3 prime	probably benign
PIT4480001:Mgat4e	UTSW	1	134541365	missense	possibly damaging	0.57
R0226:Mgat4e	UTSW	1	134541103	missense	probably benign
R1626:Mgat4e	UTSW	1	134541278	missense	probably benign	0.08
R2020:Mgat4e	UTSW	1	134541322	missense	probably damaging	1.00
R3011:Mgat4e	UTSW	1	134542108	missense	possibly damaging	0.77
R4748:Mgat4e	UTSW	1	134542028	missense	probably damaging	1.00
R4784:Mgat4e	UTSW	1	134541325	missense	probably damaging	0.98
R4859:Mgat4e	UTSW	1	134541740	missense	possibly damaging	0.84
R4894:Mgat4e	UTSW	1	134541118	missense	probably benign	0.23
R4910:Mgat4e	UTSW	1	134541864	missense	probably damaging	1.00
R5007:Mgat4e	UTSW	1	134541152	missense	probably benign	0.39
R5108:Mgat4e	UTSW	1	134541223	missense	probably benign	0.03
R5691:Mgat4e	UTSW	1	134540991	utr 3 prime	probably benign
R5994:Mgat4e	UTSW	1	134541496	missense	probably benign	0.05
R6467:Mgat4e	UTSW	1	134541206	missense	probably benign	0.01
R7155:Mgat4e	UTSW	1	134541959	missense	probably damaging	0.98
R7612:Mgat4e	UTSW	1	134542007	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGGTGTTCCTTCAGGATCATAG -3'
(R):5'- TGGGCAAACTTCTCCACAGCAG -3'

Sequencing Primer
(F):5'- CGCTGGATTGTTCAAAATCACTG -3'
(R):5'- AGGGACCTTCCACTCCTG -3'

Posted On

2014-03-17