Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Mgat4c'

589557

Institutional Source

Beutler Lab

Gene Symbol

Mgat4c

Ensembl Gene

ENSMUSG00000019888

Gene Name

MGAT4 family, member C

Synonyms

9130411I17Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101681487-102391469 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102389070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 382 (V382I)

Ref Sequence

ENSEMBL: ENSMUSP00000020039 (fasta)

Gene Model

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

AlphaFold

Q9D306

Predicted Effect

probably benign
Transcript: ENSMUST00000020039
AA Change: V382I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: V382I

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: V382I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: V382I

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

SMART Domains

Protein: ENSMUSP00000117148
Gene: ENSMUSG00000019888

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138522

SMART Domains

Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888

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

SMART Domains

Protein: ENSMUSP00000116216
Gene: ENSMUSG00000019888

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163753
AA Change: V382I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: V382I

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: V382I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: V382I

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

probably benign
Transcript: ENSMUST00000219195

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly 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
R2567:Mgat4c	UTSW	10	102378262	missense	probably benign	0.38
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
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'- AGCACATGGGGTATTATTCATCC -3'
(R):5'- CTCATGCAATGTATGTCAAAGGG -3'

Sequencing Primer
(F):5'- CAGAGAATAAACTGAAGGATGATGAC -3'
(R):5'- TCACATCTGACATTTCAAAGTATCC -3'

Posted On

2019-10-24