Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Mgat4e'

480976

Institutional Source

Beutler Lab

Gene Symbol

Mgat4e

Ensembl Gene

ENSMUSG00000046367

Gene Name

MGAT4 family, member E

Synonyms

4931440L10Rik

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134468679-134477420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134469234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 270 (H270L)

Ref Sequence

ENSEMBL: ENSMUSP00000133717 (fasta)

Gene Model

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

AlphaFold

A6H684

Predicted Effect

probably benign
Transcript: ENSMUST00000052911
AA Change: H270L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: H270L

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: H270L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: H270L

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,647,862 (GRCm39)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,840,592 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,928,995 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,491,545 (GRCm39)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,562,140 (GRCm39)	C312S	probably damaging	Het
Ano8	C	T	8: 71,937,478 (GRCm39)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,886,187 (GRCm39)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,715,935 (GRCm39)	L195P	probably damaging	Het
Cfap54	A	G	10: 92,874,943 (GRCm39)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,831,689 (GRCm39)		probably benign	Het
Cyp4x1	T	C	4: 114,979,142 (GRCm39)	I152V	probably benign	Het
Dglucy	G	A	12: 100,808,959 (GRCm39)	R219Q	probably benign	Het
Disp3	G	T	4: 148,338,741 (GRCm39)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,478,517 (GRCm39)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,493,377 (GRCm39)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,514,749 (GRCm39)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,294 (GRCm39)	S155C	probably benign	Het
Gm10134	A	T	2: 28,396,258 (GRCm39)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga7	T	C	8: 23,740,281 (GRCm39)	E83G	probably benign	Het
Gpr12	T	C	5: 146,520,241 (GRCm39)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,141,372 (GRCm39)	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,239,607 (GRCm39)	S3282P	unknown	Het
Ift74	C	A	4: 94,579,961 (GRCm39)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,285 (GRCm39)	R420L	probably damaging	Het
Krt77	T	A	15: 101,771,290 (GRCm39)	I338F	probably damaging	Het
Limch1	A	T	5: 67,131,965 (GRCm39)	S152C	probably damaging	Het
Myrf	A	T	19: 10,196,481 (GRCm39)	L504Q	probably null	Het
Nckipsd	A	G	9: 108,691,176 (GRCm39)	Q366R	probably benign	Het
Npy5r	A	T	8: 67,134,751 (GRCm39)	V14D	probably benign	Het
Nrap	T	A	19: 56,340,031 (GRCm39)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,418,070 (GRCm39)	Y103N	probably damaging	Het
Or10g7	A	T	9: 39,905,519 (GRCm39)	R138*	probably null	Het
P2rx4	T	A	5: 122,863,142 (GRCm39)	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,906,947 (GRCm39)	T71S	probably benign	Het
Paip2b	C	A	6: 83,785,867 (GRCm39)	S121I	probably damaging	Het
Pofut1	C	T	2: 153,103,149 (GRCm39)	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,101,004 (GRCm39)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,584,261 (GRCm39)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,501,725 (GRCm39)		probably null	Het
Psd3	C	T	8: 68,172,620 (GRCm39)	A894T	probably damaging	Het
Pygm	A	T	19: 6,448,073 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,468,560 (GRCm39)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,203,373 (GRCm39)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,740,986 (GRCm39)	F575L	probably benign	Het
Rassf6	A	G	5: 90,765,627 (GRCm39)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,676,857 (GRCm39)	K268N	probably damaging	Het
Rela	C	T	19: 5,697,092 (GRCm39)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,473,894 (GRCm39)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,624,243 (GRCm39)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,429,403 (GRCm39)	I241T	probably damaging	Het
Septin7	T	C	9: 25,199,494 (GRCm39)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,357,570 (GRCm39)	F191L	probably damaging	Het
Siglec15	C	A	18: 78,090,590 (GRCm39)	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,295,562 (GRCm39)	T520A	probably benign	Het
Slc26a11	C	A	11: 119,270,738 (GRCm39)	F553L	probably benign	Het
Smchd1	G	A	17: 71,672,404 (GRCm39)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 23,876,246 (GRCm39)	H137R	probably damaging	Het
Thap12	T	A	7: 98,365,237 (GRCm39)	C468*	probably null	Het
Timp4	C	T	6: 115,224,315 (GRCm39)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,065,003 (GRCm39)	K48E	probably damaging	Het
Trmt10a	T	A	3: 137,862,475 (GRCm39)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,133,189 (GRCm39)		probably null	Het
Tut7	T	G	13: 59,937,023 (GRCm39)	Y806S	probably damaging	Het
Ube4b	A	G	4: 149,457,389 (GRCm39)	Y283H	probably damaging	Het
Ucp1	G	T	8: 84,020,567 (GRCm39)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,875,918 (GRCm39)	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,599,936 (GRCm39)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm39)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 22,035,630 (GRCm39)	T429S	possibly damaging	Het

Other mutations in Mgat4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Mgat4e	APN	1	134,469,187 (GRCm39)	missense	probably damaging	1.00
IGL02863:Mgat4e	APN	1	134,468,896 (GRCm39)	missense	probably benign
IGL02999:Mgat4e	APN	1	134,468,928 (GRCm39)	missense	probably damaging	1.00
FR4449:Mgat4e	UTSW	1	134,468,735 (GRCm39)	utr 3 prime	probably benign
PIT4480001:Mgat4e	UTSW	1	134,469,103 (GRCm39)	missense	possibly damaging	0.57
R0226:Mgat4e	UTSW	1	134,468,841 (GRCm39)	missense	probably benign
R1396:Mgat4e	UTSW	1	134,469,271 (GRCm39)	missense	probably benign	0.18
R1626:Mgat4e	UTSW	1	134,469,016 (GRCm39)	missense	probably benign	0.08
R2020:Mgat4e	UTSW	1	134,469,060 (GRCm39)	missense	probably damaging	1.00
R3011:Mgat4e	UTSW	1	134,469,846 (GRCm39)	missense	possibly damaging	0.77
R4748:Mgat4e	UTSW	1	134,469,766 (GRCm39)	missense	probably damaging	1.00
R4784:Mgat4e	UTSW	1	134,469,063 (GRCm39)	missense	probably damaging	0.98
R4859:Mgat4e	UTSW	1	134,469,478 (GRCm39)	missense	possibly damaging	0.84
R4894:Mgat4e	UTSW	1	134,468,856 (GRCm39)	missense	probably benign	0.23
R4910:Mgat4e	UTSW	1	134,469,602 (GRCm39)	missense	probably damaging	1.00
R5007:Mgat4e	UTSW	1	134,468,890 (GRCm39)	missense	probably benign	0.39
R5108:Mgat4e	UTSW	1	134,468,961 (GRCm39)	missense	probably benign	0.03
R5691:Mgat4e	UTSW	1	134,468,729 (GRCm39)	utr 3 prime	probably benign
R6467:Mgat4e	UTSW	1	134,468,944 (GRCm39)	missense	probably benign	0.01
R7155:Mgat4e	UTSW	1	134,469,697 (GRCm39)	missense	probably damaging	0.98
R7612:Mgat4e	UTSW	1	134,469,745 (GRCm39)	missense	probably damaging	1.00
R9046:Mgat4e	UTSW	1	134,474,742 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TACTTGCACTCTGTTGAGGTTC -3'
(R):5'- TATGGGCTTCCTGGGCAAAC -3'

Sequencing Primer
(F):5'- CGCTGGATTGTTCAAAATCACTGTC -3'
(R):5'- TGGGCAAACTTCTCCACAG -3'

Posted On

2017-06-26