Mutagenetix > Incidental Mutation

Incidental Mutation 'R4271:C1galt1'

322159

Institutional Source

Beutler Lab

Gene Symbol

C1galt1

Ensembl Gene

ENSMUSG00000042460

Gene Name

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1

Synonyms

2210410E06Rik, T-synthase, core 1 beta3-Gal-T

MMRRC Submission

041076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7845224-7872042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7866607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 151 (F151S)

Ref Sequence

ENSEMBL: ENSMUSP00000047931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040159]

AlphaFold

Q9JJ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000040159
AA Change: F151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047931
Gene: ENSMUSG00000042460
AA Change: F151S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Fringe	83	283	3e-18	PFAM
Pfam:Galactosyl_T	108	258	6.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
PHENOTYPE: Embryos homozygous for a null allele show impaired angiogenesis, chaotic microvascular networks in brain, and fatal hemorrhage by E14. Eggs homozygous for another null allele show a slightly thinner zona pellucida. Mice homozygous for an ENU-induced allele develop thrombocytopenia and renal disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 103,856,549 (GRCm39)		probably benign	Het
Acp6	T	C	3: 97,073,934 (GRCm39)		probably null	Het
Actr6	T	A	10: 89,553,101 (GRCm39)	R252S	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
B430203G13Rik	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	12: 17,974,358 (GRCm39)		noncoding transcript	Het
C1qtnf6	G	A	15: 78,409,466 (GRCm39)	T127I	probably benign	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Cecr2	C	T	6: 120,739,436 (GRCm39)	H1360Y	probably damaging	Het
Cfap70	T	C	14: 20,470,793 (GRCm39)	E484G	probably benign	Het
Chml	G	A	1: 175,515,360 (GRCm39)	T187M	probably benign	Het
Chpt1	C	T	10: 88,317,214 (GRCm39)		probably benign	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cspg4b	G	T	13: 113,478,904 (GRCm39)	V1483L	possibly damaging	Het
Cyfip1	A	T	7: 55,528,849 (GRCm39)	M244L	probably benign	Het
Dock1	T	C	7: 134,335,783 (GRCm39)	I59T	probably damaging	Het
Duox1	T	C	2: 122,154,856 (GRCm39)	F414L	probably damaging	Het
Gm1110	A	T	9: 26,806,944 (GRCm39)		probably null	Het
Gsap	T	C	5: 21,431,348 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,510 (GRCm39)	Y111C	probably damaging	Het
Hectd4	AGCGGCGGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGGCGGCGG	5: 121,358,567 (GRCm39)		probably benign	Het
Kif12	T	C	4: 63,088,983 (GRCm39)	Q146R	probably benign	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Klhl15	AG	A	X: 93,296,718 (GRCm39)		probably null	Het
Lims1	T	C	10: 58,246,026 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nfe2l3	A	G	6: 51,433,614 (GRCm39)	D242G	probably damaging	Het
Oacyl	T	A	18: 65,871,038 (GRCm39)	L340Q	probably damaging	Het
Or4n4b	A	T	14: 50,535,908 (GRCm39)	I286N	probably damaging	Het
Or5p80	T	A	7: 108,229,560 (GRCm39)	Y120*	probably null	Het
Osbpl5	G	T	7: 143,249,339 (GRCm39)	Y543*	probably null	Het
Polr1a	G	A	6: 71,930,006 (GRCm39)	E898K	probably benign	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rad54l2	G	A	9: 106,570,825 (GRCm39)	A1165V	probably benign	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Scp2	T	C	4: 107,942,408 (GRCm39)	D306G	probably damaging	Het
Slco4a1	A	G	2: 180,116,003 (GRCm39)	D713G	possibly damaging	Het
Smarca2	T	A	19: 26,698,349 (GRCm39)		probably null	Het
Spem2	T	C	11: 69,708,251 (GRCm39)	Y238C	probably damaging	Het
Srpk2	T	A	5: 23,753,513 (GRCm39)	H80L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,162 (GRCm39)	L365P	probably damaging	Het
Tsnax	T	C	8: 125,759,468 (GRCm39)	L243P	probably damaging	Het
Ttn	A	G	2: 76,731,979 (GRCm39)		probably benign	Het
V1rd19	A	G	7: 23,702,839 (GRCm39)	T102A	probably benign	Het
Vmn2r94	T	C	17: 18,463,940 (GRCm39)	I783M	probably damaging	Het
Zeb1	C	A	18: 5,758,985 (GRCm39)	Q148K	probably damaging	Het

Other mutations in C1galt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00696:C1galt1	APN	6	7,866,475 (GRCm39)	missense	probably damaging	0.98
PIT4378001:C1galt1	UTSW	6	7,863,944 (GRCm39)	missense	probably benign	0.01
R0086:C1galt1	UTSW	6	7,867,051 (GRCm39)	splice site	probably benign
R0540:C1galt1	UTSW	6	7,871,193 (GRCm39)	missense	probably benign	0.00
R0567:C1galt1	UTSW	6	7,866,874 (GRCm39)	missense	probably damaging	1.00
R0607:C1galt1	UTSW	6	7,871,193 (GRCm39)	missense	probably benign	0.00
R1519:C1galt1	UTSW	6	7,866,402 (GRCm39)	missense	probably damaging	0.99
R1712:C1galt1	UTSW	6	7,871,217 (GRCm39)	missense	probably benign
R2989:C1galt1	UTSW	6	7,866,622 (GRCm39)	missense	possibly damaging	0.50
R3035:C1galt1	UTSW	6	7,866,762 (GRCm39)	missense	probably benign	0.06
R4749:C1galt1	UTSW	6	7,866,379 (GRCm39)	missense	probably benign	0.42
R5029:C1galt1	UTSW	6	7,863,931 (GRCm39)	missense	possibly damaging	0.95
R5393:C1galt1	UTSW	6	7,864,143 (GRCm39)	critical splice donor site	probably null
R5448:C1galt1	UTSW	6	7,866,658 (GRCm39)	missense	possibly damaging	0.95
R7055:C1galt1	UTSW	6	7,866,585 (GRCm39)	missense	probably damaging	1.00
R7319:C1galt1	UTSW	6	7,871,150 (GRCm39)	missense	probably damaging	1.00
R8887:C1galt1	UTSW	6	7,866,379 (GRCm39)	missense	probably benign	0.42
R9355:C1galt1	UTSW	6	7,866,474 (GRCm39)	missense	probably damaging	1.00
R9755:C1galt1	UTSW	6	7,867,019 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TAGATGAGAACATAGACGTTGCTG -3'
(R):5'- ATGTATCCCTGCTTCACATAGG -3'

Sequencing Primer
(F):5'- GACGTTGCTGAGAACCTCTATCAG -3'
(R):5'- GGGCTTAAATCTTCGCCCAAAG -3'

Posted On

2015-06-20