Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:Ggta1'

373930

Institutional Source

Beutler Lab

Gene Symbol

Ggta1

Ensembl Gene

ENSMUSG00000035778

Gene Name

glycoprotein galactosyltransferase alpha 1, 3

Synonyms

alpha Gal, Gal, Ggta, GALT, alpha3GalT, glycoprotein alpha galactosyl transferase 1, Ggta-1

MMRRC Submission

042467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35290191-35353243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35292803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 180 (H180L)

Ref Sequence

ENSEMBL: ENSMUSP00000099858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044255] [ENSMUST00000079424] [ENSMUST00000102794] [ENSMUST00000113001] [ENSMUST00000113002] [ENSMUST00000164889]

AlphaFold

P23336

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044255
AA Change: H180L

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: H180L

Domain	Start	End	E-Value	Type
transmembrane domain	42	60	N/A	INTRINSIC
Pfam:Glyco_transf_6	81	404	1.2e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079424
AA Change: H146L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: H146L

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	34	370	5.5e-177	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102794
AA Change: H180L

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: H180L

Domain	Start	End	E-Value	Type
transmembrane domain	42	60	N/A	INTRINSIC
Pfam:Glyco_transf_6	74	404	4.3e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113001
AA Change: H158L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: H158L

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	45	382	3.6e-177	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113002
AA Change: H168L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: H168L

Domain	Start	End	E-Value	Type
transmembrane domain	42	60	N/A	INTRINSIC
Pfam:Glyco_transf_6	62	392	3.6e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164889
AA Change: H168L

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: H168L

Domain	Start	End	E-Value	Type
transmembrane domain	42	60	N/A	INTRINSIC
Pfam:Glyco_transf_6	62	392	3.6e-182	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the galactosyltransferase family of intracellular, membrane-bound enzymes that are involved in the biosynthesis of glycoproteins and glycolipids. The encoded protein catalyzes the transfer of galactose from UDP-galactose to N-acetyllactosamine in an alpha(1,3) linkage to form galactose alpha(1,3)-galactose. Mice lacking the encoded protein develop cortical cataracts. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene display defects in humoral immune responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,589,799 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpi	T	C	9: 57,452,590 (GRCm39)	Y314C	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Reps1	T	A	10: 17,999,373 (GRCm39)	I720N	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	probably damaging	Het

Other mutations in Ggta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Ggta1	APN	2	35,292,462 (GRCm39)	nonsense	probably null
IGL01903:Ggta1	APN	2	35,292,569 (GRCm39)	missense	possibly damaging	0.74
IGL02796:Ggta1	APN	2	35,303,329 (GRCm39)	splice site	probably benign
IGL02799:Ggta1	UTSW	2	35,312,211 (GRCm39)	missense	probably damaging	0.98
R0383:Ggta1	UTSW	2	35,292,416 (GRCm39)	missense	probably damaging	1.00
R1430:Ggta1	UTSW	2	35,298,029 (GRCm39)	missense	possibly damaging	0.81
R1667:Ggta1	UTSW	2	35,304,295 (GRCm39)	missense	possibly damaging	0.83
R1672:Ggta1	UTSW	2	35,292,145 (GRCm39)	nonsense	probably null
R2246:Ggta1	UTSW	2	35,292,121 (GRCm39)	makesense	probably null
R3149:Ggta1	UTSW	2	35,292,635 (GRCm39)	missense	probably damaging	1.00
R3683:Ggta1	UTSW	2	35,298,000 (GRCm39)	missense	probably benign	0.39
R3684:Ggta1	UTSW	2	35,298,000 (GRCm39)	missense	probably benign	0.39
R3685:Ggta1	UTSW	2	35,298,000 (GRCm39)	missense	probably benign	0.39
R4812:Ggta1	UTSW	2	35,292,735 (GRCm39)	missense	probably benign	0.01
R5079:Ggta1	UTSW	2	35,312,249 (GRCm39)	missense	possibly damaging	0.94
R5756:Ggta1	UTSW	2	35,292,395 (GRCm39)	missense	probably damaging	1.00
R6279:Ggta1	UTSW	2	35,298,006 (GRCm39)	missense	probably damaging	1.00
R6651:Ggta1	UTSW	2	35,292,306 (GRCm39)	missense	probably benign	0.00
R6967:Ggta1	UTSW	2	35,292,734 (GRCm39)	missense	possibly damaging	0.91
R7152:Ggta1	UTSW	2	35,292,711 (GRCm39)	missense	probably benign	0.00
R7529:Ggta1	UTSW	2	35,304,256 (GRCm39)	missense	probably damaging	1.00
R7534:Ggta1	UTSW	2	35,292,440 (GRCm39)	missense	probably damaging	1.00
R7557:Ggta1	UTSW	2	35,292,548 (GRCm39)	missense	probably damaging	0.98
R7610:Ggta1	UTSW	2	35,304,230 (GRCm39)	critical splice donor site	probably null
R8153:Ggta1	UTSW	2	35,313,333 (GRCm39)	missense	possibly damaging	0.53
R8195:Ggta1	UTSW	2	35,312,279 (GRCm39)	missense	probably damaging	1.00
R8447:Ggta1	UTSW	2	35,292,573 (GRCm39)	missense	probably damaging	1.00
R8739:Ggta1	UTSW	2	35,292,572 (GRCm39)	missense	probably damaging	1.00
R9122:Ggta1	UTSW	2	35,303,336 (GRCm39)	critical splice donor site	probably null
R9470:Ggta1	UTSW	2	35,292,767 (GRCm39)	missense	probably damaging	1.00
R9567:Ggta1	UTSW	2	35,313,333 (GRCm39)	missense	possibly damaging	0.53
R9720:Ggta1	UTSW	2	35,303,418 (GRCm39)	missense	probably benign
R9721:Ggta1	UTSW	2	35,303,418 (GRCm39)	missense	probably benign
R9723:Ggta1	UTSW	2	35,303,418 (GRCm39)	missense	probably benign
R9726:Ggta1	UTSW	2	35,292,422 (GRCm39)	missense	probably damaging	1.00
X0010:Ggta1	UTSW	2	35,292,731 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCATGCTGATATCCTGCCACC -3'
(R):5'- TGCTTAACAAAGCTGGCAGTG -3'

Sequencing Primer
(F):5'- CTCTTCTCAGACCTGATCTCAAAGAC -3'
(R):5'- CAGTGAGATAAGTCATGCCACTTTCC -3'

Posted On

2016-03-01