Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01293:Mgat4c'

72999

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01293

Quality Score

Status

Chromosome

Chromosomal Location

101681487-102391469 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102388225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 100 (Y100F)

Ref Sequence

ENSEMBL: ENSMUSP00000118056 (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: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: Y100F

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: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: Y100F

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
AA Change: Y100F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888
AA Change: Y100F

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: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: Y100F

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: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: Y100F

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
AA Change: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,463,656	V25A	probably benign	Het
Aagab	T	C	9: 63,636,469	V235A	probably benign	Het
Ash1l	T	C	3: 88,983,529	V905A	probably benign	Het
Atrx	A	G	X: 105,876,195	S641P	probably benign	Het
Bnc1	T	C	7: 81,974,489	E330G	probably damaging	Het
Cenpq	A	T	17: 40,933,176	S4T	possibly damaging	Het
Clvs1	T	A	4: 9,281,559	M1K	probably null	Het
Cul2	A	G	18: 3,419,426	K196E	probably damaging	Het
Cyp2d10	A	T	15: 82,403,009	V471E	possibly damaging	Het
Efhc2	T	A	X: 17,207,695	I469L	probably benign	Het
Fhod3	C	T	18: 25,020,652		probably benign	Het
Gm1968	A	G	16: 29,958,814		noncoding transcript	Het
Gm438	G	T	4: 144,777,589	H331N	probably benign	Het
Hpdl	T	A	4: 116,820,944	T107S	possibly damaging	Het
Il1rl1	G	A	1: 40,446,216	G276D	possibly damaging	Het
Irgq	A	G	7: 24,533,724	D330G	probably damaging	Het
Kdm4b	A	G	17: 56,353,019	D62G	probably benign	Het
Lama2	T	C	10: 27,231,636	T793A	probably benign	Het
Lrrk2	T	C	15: 91,726,137	F691L	probably benign	Het
Macf1	C	T	4: 123,471,311	G1654E	probably benign	Het
Ncapg	A	G	5: 45,681,854	N532S	probably benign	Het
Nfkb1	T	C	3: 135,590,839	D782G	probably damaging	Het
Nthl1	G	T	17: 24,638,709	C294F	probably damaging	Het
Obp2b	A	G	2: 25,737,707	H45R	probably benign	Het
Olfm1	A	G	2: 28,214,703	E156G	probably damaging	Het
Olfr113	A	G	17: 37,575,417	I2T	probably benign	Het
Olfr847	C	A	9: 19,375,336	A182S	probably benign	Het
Otud6b	A	G	4: 14,822,682		probably benign	Het
Patl2	T	C	2: 122,123,810	T427A	probably benign	Het
Pdzd8	T	A	19: 59,299,786	R1061W	probably damaging	Het
Plk3	A	T	4: 117,132,997	L137*	probably null	Het
Rps6ka6	T	C	X: 111,450,362		probably benign	Het
Shank1	T	C	7: 44,354,236	V1784A	possibly damaging	Het
Smc1b	A	T	15: 85,131,898	S14T	probably damaging	Het
Sox4	C	A	13: 28,952,681	R114L	probably damaging	Het
Speg	C	T	1: 75,388,102	R221W	probably damaging	Het
Tram1l1	T	C	3: 124,322,139	V316A	probably benign	Het
Virma	G	T	4: 11,521,114	K840N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,412	S203T	probably damaging	Het
Wdr1	T	C	5: 38,529,543	T293A	probably benign	Het
Xirp2	C	T	2: 67,515,184	P2590S	possibly damaging	Het
Zfp106	T	C	2: 120,535,035	Y297C	possibly damaging	Het
Zfp128	A	G	7: 12,891,424	*573W	probably null	Het
Zfp575	G	A	7: 24,585,757	P153L	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
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
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

Posted On

2013-10-07