Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:A3galt2'

473747

Institutional Source

Beutler Lab

Gene Symbol

A3galt2

Ensembl Gene

ENSMUSG00000028794

Gene Name

alpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide synthase)

Synonyms

iGb3, LOC215493

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128755364-128769298 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128755557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 6 (F6L)

Ref Sequence

ENSEMBL: ENSMUSP00000101687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030585] [ENSMUST00000030588] [ENSMUST00000106077] [ENSMUST00000106079] [ENSMUST00000106080] [ENSMUST00000143632]

AlphaFold

Q3V1N9

Predicted Effect

probably benign
Transcript: ENSMUST00000030585

SMART Domains

Protein: ENSMUSP00000030585
Gene: ENSMUSG00000028794

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
Pfam:Glyco_transf_6	80	370	4.8e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030588

SMART Domains

Protein: ENSMUSP00000030588
Gene: ENSMUSG00000028796

Domain	Start	End	E-Value	Type
low complexity region	15	41	N/A	INTRINSIC
low complexity region	74	119	N/A	INTRINSIC
low complexity region	126	152	N/A	INTRINSIC
low complexity region	232	248	N/A	INTRINSIC
low complexity region	257	269	N/A	INTRINSIC
low complexity region	343	367	N/A	INTRINSIC
low complexity region	487	499	N/A	INTRINSIC
low complexity region	529	543	N/A	INTRINSIC
Pfam:PHC2_SAM_assoc	662	781	2.6e-55	PFAM
SAM	783	850	8.53e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106077
AA Change: F6L

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

SMART Domains

Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794
AA Change: F6L

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_6	49	339	1.4e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106079

SMART Domains

Protein: ENSMUSP00000101689
Gene: ENSMUSG00000028796

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDB:2L8E\|A	105	135	1e-6	PDB
low complexity region	216	228	N/A	INTRINSIC
SAM	256	323	8.53e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106080

SMART Domains

Protein: ENSMUSP00000101690
Gene: ENSMUSG00000028796

Domain	Start	End	E-Value	Type
low complexity region	15	41	N/A	INTRINSIC
low complexity region	74	119	N/A	INTRINSIC
low complexity region	126	152	N/A	INTRINSIC
low complexity region	232	248	N/A	INTRINSIC
low complexity region	257	269	N/A	INTRINSIC
low complexity region	343	367	N/A	INTRINSIC
low complexity region	487	499	N/A	INTRINSIC
low complexity region	529	543	N/A	INTRINSIC
PDB:2L8E\|A	632	662	4e-7	PDB
low complexity region	743	755	N/A	INTRINSIC
SAM	783	850	8.53e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143632

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable alterations in the development and function of invariant natural killer T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	Het

Other mutations in A3galt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:A3galt2	APN	4	128762058	missense	probably damaging	1.00
IGL02691:A3galt2	APN	4	128761664	missense	probably benign	0.01
IGL02826:A3galt2	APN	4	128761509	splice site	probably benign
IGL02839:A3galt2	APN	4	128760023	critical splice donor site	probably null
R0234:A3galt2	UTSW	4	128767148	missense	possibly damaging	0.59
R0234:A3galt2	UTSW	4	128767148	missense	possibly damaging	0.59
R0970:A3galt2	UTSW	4	128767571	missense	probably damaging	1.00
R1807:A3galt2	UTSW	4	128767601	missense	probably benign	0.00
R3799:A3galt2	UTSW	4	128767070	missense	probably damaging	1.00
R3891:A3galt2	UTSW	4	128762054	missense	probably damaging	1.00
R4810:A3galt2	UTSW	4	128755563	critical splice donor site	probably null
R5133:A3galt2	UTSW	4	128762141	missense	probably damaging	1.00
R6540:A3galt2	UTSW	4	128766986	missense	possibly damaging	0.78
R8323:A3galt2	UTSW	4	128755558	missense	probably benign
R8989:A3galt2	UTSW	4	128761438	missense	probably damaging	1.00
R9384:A3galt2	UTSW	4	128762058	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14