Mutagenetix > Incidental Mutation

Incidental Mutation 'R2567:Mgat4c'

254567

Institutional Source

Beutler Lab

Gene Symbol

Mgat4c

Ensembl Gene

ENSMUSG00000019888

Gene Name

MGAT4 family, member C

Synonyms

9130411I17Rik

MMRRC Submission

040426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101681487-102391469 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102378262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 35 (F35L)

Ref Sequence

ENSEMBL: ENSMUSP00000116216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020039] [ENSMUST00000120748] [ENSMUST00000127504] [ENSMUST00000138016] [ENSMUST00000138522] [ENSMUST00000156751] [ENSMUST00000163753] [ENSMUST00000179929] [ENSMUST00000219195]

AlphaFold

Q9D306

Predicted Effect

probably benign
Transcript: ENSMUST00000020039
AA Change: F35L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
transmembrane domain	26	43	N/A	INTRINSIC
Pfam:Glyco_transf_54	44	330	5.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120748
AA Change: F35L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
transmembrane domain	26	43	N/A	INTRINSIC
Pfam:Glyco_transf_54	44	330	5.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127504
AA Change: F35L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117148
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
transmembrane domain	26	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134930

Predicted Effect

probably benign
Transcript: ENSMUST00000138016

Predicted Effect

probably benign
Transcript: ENSMUST00000138522
AA Change: F35L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
low complexity region	26	38	N/A	INTRINSIC
Pfam:Glyco_transf_54	43	150	1.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156751
AA Change: F35L

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116216
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
transmembrane domain	26	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163753
AA Change: F35L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
transmembrane domain	26	43	N/A	INTRINSIC
Pfam:Glyco_transf_54	44	330	5.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179929
AA Change: F35L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: F35L

Domain	Start	End	E-Value	Type
transmembrane domain	26	43	N/A	INTRINSIC
Pfam:Glyco_transf_54	52	330	1.1e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218984

Predicted Effect

probably benign
Transcript: ENSMUST00000219195
AA Change: F35L

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,870,251	D409G	probably benign	Het
Akap10	A	G	11: 61,893,349		probably benign	Het
Akap6	G	T	12: 52,938,373	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,625,204	K29E	possibly damaging	Het
Atm	T	A	9: 53,457,470	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,386,927	D944V	probably damaging	Het
Baz2b	A	T	2: 59,913,911	S1417T	possibly damaging	Het
C130079G13Rik	A	G	3: 59,929,054		probably benign	Het
Cacna1a	T	A	8: 84,549,725	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,943,967		probably null	Het
Cd209d	T	A	8: 3,876,327	N96I	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdk4	T	G	10: 127,064,276	V14G	probably benign	Het
Chrna10	C	A	7: 102,112,069	M438I	probably benign	Het
Clec10a	T	C	11: 70,169,532		probably null	Het
Cog3	A	G	14: 75,754,290	V40A	probably benign	Het
Creb3l3	T	C	10: 81,086,049	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cubn	A	G	2: 13,278,356		probably null	Het
Cygb	T	C	11: 116,649,866	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,920,292	K120E	probably damaging	Het
Dnah3	T	A	7: 119,952,697	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,041,336	R245L	possibly damaging	Het
Dock1	T	G	7: 135,145,484	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,101,845	I266R	probably damaging	Het
Fhl4	T	C	10: 85,098,780	I46V	possibly damaging	Het
Fn1	G	A	1: 71,597,736	Q1995*	probably null	Het
Foxo1	T	A	3: 52,269,334	L178H	probably damaging	Het
Galnt18	C	T	7: 111,554,616	R267H	probably damaging	Het
Gm1110	T	C	9: 26,920,696	D53G	probably benign	Het
Gm12666	T	C	4: 92,191,323	E87G	probably benign	Het
Gm5294	A	G	5: 138,820,185	S36G	probably null	Het
Gm7104	A	T	12: 88,285,472		noncoding transcript	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Haus6	C	A	4: 86,585,885	E501*	probably null	Het
Ifna5	T	C	4: 88,835,910	V129A	probably benign	Het
Kdelr3	A	G	15: 79,522,831	I38V	probably benign	Het
Lamb1	A	G	12: 31,269,055		probably null	Het
Mmab	A	T	5: 114,433,317	M166K	probably benign	Het
Mrpl2	A	G	17: 46,647,501	T70A	probably benign	Het
Naa11	C	T	5: 97,391,759	G180D	probably benign	Het
Npy6r	T	C	18: 44,275,821	V103A	possibly damaging	Het
Nup188	A	T	2: 30,341,782	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,643,830	S336R	possibly damaging	Het
Olfr876	T	A	9: 37,804,213	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,297,951	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,282,096	N659Y	probably damaging	Het
Perm1	T	C	4: 156,217,118	S40P	probably damaging	Het
Phldb1	T	C	9: 44,726,025	T114A	probably damaging	Het
Pirt	C	T	11: 66,926,159	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,712,184	R360G	probably benign	Het
Rhpn2	G	A	7: 35,381,532		probably null	Het
Rpusd2	T	A	2: 119,037,075	I268N	probably damaging	Het
Sds	G	T	5: 120,481,581	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,875,146	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,424,569	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,767,010	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,430,459	C70R	probably damaging	Het
Smoc1	G	A	12: 81,167,590	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,085,088	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,936,335	D590V	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm2	C	T	10: 77,941,174	V430M	probably damaging	Het
Ttn	T	C	2: 76,744,328	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 85,234,595	I101V	probably benign	Het
Xrcc4	A	T	13: 90,062,142	M61K	probably damaging	Het
Zfp648	A	G	1: 154,204,949	T285A	probably damaging	Het

Other mutations in Mgat4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Mgat4c	APN	10	102388720	missense	probably damaging	1.00
IGL01293:Mgat4c	APN	10	102388225	missense	probably benign	0.00
IGL01394:Mgat4c	APN	10	102385114	missense	possibly damaging	0.62
IGL01525:Mgat4c	APN	10	102378196	missense	probably damaging	0.97
IGL02023:Mgat4c	APN	10	102378184	nonsense	probably null
IGL02150:Mgat4c	APN	10	102389122	missense	probably benign	0.08
IGL02296:Mgat4c	APN	10	102385160	splice site	probably benign
IGL02946:Mgat4c	APN	10	102389253	missense	probably benign	0.14
IGL03062:Mgat4c	APN	10	102388461	missense	probably damaging	1.00
R0001:Mgat4c	UTSW	10	102388956	missense	probably benign	0.01
R0326:Mgat4c	UTSW	10	102388704	missense	probably damaging	1.00
R0480:Mgat4c	UTSW	10	102389119	missense	probably damaging	0.97
R0656:Mgat4c	UTSW	10	102388591	missense	probably damaging	1.00
R0746:Mgat4c	UTSW	10	102388687	missense	probably damaging	1.00
R1639:Mgat4c	UTSW	10	102378281	missense	probably damaging	1.00
R1989:Mgat4c	UTSW	10	102378159	start codon destroyed	probably null	0.66
R2148:Mgat4c	UTSW	10	102388929	missense	probably benign
R2437:Mgat4c	UTSW	10	102388575	missense	probably damaging	1.00
R3780:Mgat4c	UTSW	10	102388921	missense	probably benign	0.25
R3781:Mgat4c	UTSW	10	102388921	missense	probably benign	0.25
R3782:Mgat4c	UTSW	10	102388921	missense	probably benign	0.25
R3786:Mgat4c	UTSW	10	102385070	missense	probably damaging	1.00
R3806:Mgat4c	UTSW	10	102388360	missense	probably benign	0.10
R4596:Mgat4c	UTSW	10	102388561	missense	probably damaging	1.00
R4718:Mgat4c	UTSW	10	102388606	missense	probably damaging	1.00
R4740:Mgat4c	UTSW	10	102388404	missense	probably damaging	1.00
R4872:Mgat4c	UTSW	10	102388738	missense	probably damaging	1.00
R5305:Mgat4c	UTSW	10	102389279	missense	possibly damaging	0.82
R5740:Mgat4c	UTSW	10	102389321	missense	possibly damaging	0.49
R5841:Mgat4c	UTSW	10	102388965	missense	probably damaging	0.98
R6367:Mgat4c	UTSW	10	102385154	critical splice donor site	probably null
R6459:Mgat4c	UTSW	10	102385127	missense	probably damaging	1.00
R7021:Mgat4c	UTSW	10	102388428	missense	possibly damaging	0.82
R7122:Mgat4c	UTSW	10	102378209	nonsense	probably null
R7146:Mgat4c	UTSW	10	102388496	missense	probably damaging	1.00
R7629:Mgat4c	UTSW	10	102389070	missense	probably benign	0.03
R7877:Mgat4c	UTSW	10	102385039	missense	probably benign	0.00
R8829:Mgat4c	UTSW	10	102378223	missense	probably damaging	1.00
R8872:Mgat4c	UTSW	10	102388285	missense	probably damaging	1.00
R9181:Mgat4c	UTSW	10	102389262	missense	probably benign	0.14
RF020:Mgat4c	UTSW	10	102389067	missense	probably benign
X0020:Mgat4c	UTSW	10	102388390	missense	possibly damaging	0.67
Z1177:Mgat4c	UTSW	10	102388450	missense	probably damaging	1.00
Z1177:Mgat4c	UTSW	10	102388602	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAAACTGGAAACACCTAGTAAT -3'
(R):5'- TATGGCTAAATGTATACAGACAGGA -3'

Sequencing Primer
(F):5'- CTTGATAAACGTCAACATTATGCATG -3'
(R):5'- TGTATACAGACAGGAAATATGCAAAC -3'

Posted On

2014-12-04