Mutagenetix > Incidental Mutations

Incidental Mutation 'R0656:Mgat4c'

62551

Institutional Source

Beutler Lab

Gene Symbol

Mgat4c

Ensembl Gene

ENSMUSG00000019888

Gene Name

MGAT4 family, member C

Synonyms

9130411I17Rik

MMRRC Submission

038841-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0656 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

101681487-102391469 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102388591 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 222 (M222T)

Ref Sequence

ENSEMBL: ENSMUSP00000135959 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020039
AA Change: M222T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: M222T

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 damaging
Transcript: ENSMUST00000120748
AA Change: M222T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: M222T

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 damaging
Transcript: ENSMUST00000163753
AA Change: M222T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: M222T

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 damaging
Transcript: ENSMUST00000179929
AA Change: M222T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: M222T

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

Meta Mutation Damage Score

0.3776

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (92/94)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	A	10: 70,868,800		noncoding transcript	Het
4931409K22Rik	C	T	5: 24,549,762	V337M	possibly damaging	Het
Alox5	A	G	6: 116,423,330		probably benign	Het
Anxa11	T	A	14: 25,873,997	D203E	probably damaging	Het
Atp12a	A	T	14: 56,374,481	N371Y	probably damaging	Het
Bloc1s6	A	G	2: 122,742,623	I39M	probably benign	Het
Celsr3	A	C	9: 108,834,655	I1688L	possibly damaging	Het
Cgn	T	C	3: 94,774,894		probably benign	Het
Chd4	A	T	6: 125,102,967	I453F	probably damaging	Het
Dbnl	A	G	11: 5,797,321	T247A	probably benign	Het
Dpysl3	T	C	18: 43,438,071	E46G	possibly damaging	Het
Dsg1a	T	C	18: 20,335,892		probably benign	Het
Fbp1	C	T	13: 62,871,285	E150K	probably benign	Het
Flnb	T	A	14: 7,927,352	L1854Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,303	T714M	probably benign	Het
Gm12216	A	T	11: 53,813,336		probably benign	Het
Gpr82	T	C	X: 13,665,590	S126P	probably benign	Het
Hmbs	T	A	9: 44,337,360	H256L	probably benign	Het
Ibsp	A	T	5: 104,310,020		probably null	Het
Ints13	A	G	6: 146,552,461	V240A	probably benign	Het
Kalrn	T	C	16: 34,032,467	D343G	probably damaging	Het
Kin	T	C	2: 10,085,720		probably benign	Het
Klhdc1	T	C	12: 69,258,030	V192A	probably benign	Het
Lpar3	T	A	3: 146,240,671	C35S	possibly damaging	Het
Lrrtm4	A	G	6: 80,021,970	I122V	possibly damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Muc4	C	A	16: 32,751,670	S516Y	possibly damaging	Het
Myo1e	A	T	9: 70,367,674	Q703L	probably damaging	Het
Neb	A	G	2: 52,225,558		probably benign	Het
Necab3	T	G	2: 154,546,303	E239A	probably null	Het
Npr1	G	T	3: 90,461,369	N461K	probably benign	Het
Olfr1294	T	C	2: 111,537,627	I221V	probably damaging	Het
Pcdhb2	A	G	18: 37,295,490	Y172C	probably damaging	Het
Pcdhb7	A	G	18: 37,341,901	D30G	probably benign	Het
Phf12	A	C	11: 78,029,332	Q898P	probably benign	Het
Plekhn1	T	C	4: 156,225,364	E132G	possibly damaging	Het
Ptpn3	A	G	4: 57,270,075	V29A	probably benign	Het
Rundc3b	T	A	5: 8,569,529	I143F	probably damaging	Het
Ryr3	T	G	2: 112,648,306		probably benign	Het
Sash1	A	G	10: 8,751,137		probably null	Het
Slc4a2	A	G	5: 24,431,259	D201G	probably benign	Het
Tecpr1	T	A	5: 144,214,053		probably null	Het
Timm21	T	C	18: 84,949,201	H150R	probably damaging	Het
Tmem79	T	C	3: 88,332,934	T236A	probably damaging	Het
Usp34	G	T	11: 23,472,967	V3095F	probably damaging	Het
Vmn1r8	A	T	6: 57,036,588	Q208L	probably benign	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
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
R7629:Mgat4c	UTSW	10	102389070	missense	probably benign	0.03
RF020:Mgat4c	UTSW	10	102389067	missense	probably benign
X0020:Mgat4c	UTSW	10	102388390	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AGCAGACTTCAATTCATCATGGCGAG -3'
(R):5'- CAATAGCCAATCGCAGGGCATTTC -3'

Sequencing Primer
(F):5'- GCCCATCATATTATTGCAGGAAG -3'
(R):5'- CGCAGGGCATTTCTTGATAGAAC -3'

Posted On

2013-07-30