Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:C1galt1'

547848

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

045152-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7845224-7872042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7866585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 144 (Y144H)

Ref Sequence

ENSEMBL: ENSMUSP00000047931 (fasta)

Gene Model

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

AlphaFold

Q9JJ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000040159
AA Change: Y144H

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

SMART Domains

Protein: ENSMUSP00000047931
Gene: ENSMUSG00000042460
AA Change: Y144H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,083 (GRCm39)	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 78,903,681 (GRCm39)	E212K	probably damaging	Het
Abcc4	A	T	14: 118,832,197 (GRCm39)	L736*	probably null	Het
Acmsd	A	T	1: 127,681,570 (GRCm39)	M178L	probably benign	Het
Adpgk	T	A	9: 59,220,476 (GRCm39)	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909 (GRCm39)	R149H	possibly damaging	Het
Aox1	A	G	1: 58,338,927 (GRCm39)	T307A	probably benign	Het
Cabin1	G	C	10: 75,579,117 (GRCm39)	Q440E	probably benign	Het
Casq2	A	G	3: 102,049,561 (GRCm39)	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,558,342 (GRCm39)	I490T	probably damaging	Het
Cep170b	T	A	12: 112,702,149 (GRCm39)	V314E	probably damaging	Het
Col4a4	T	C	1: 82,496,757 (GRCm39)	E413G	unknown	Het
Cyp3a25	A	C	5: 145,929,801 (GRCm39)	F189L	probably benign	Het
Dido1	T	A	2: 180,303,002 (GRCm39)	H1634L	probably benign	Het
Dnaja2	A	C	8: 86,275,303 (GRCm39)	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291 (GRCm39)		probably null	Het
Eomes	A	T	9: 118,309,567 (GRCm39)	N240I	possibly damaging	Het
Fads6	A	G	11: 115,176,229 (GRCm39)	F199L	probably benign	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fndc4	T	C	5: 31,451,522 (GRCm39)	E153G	probably benign	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,954,775 (GRCm39)		probably null	Het
Fzr1	T	C	10: 81,206,057 (GRCm39)	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,067,856 (GRCm39)	M209L	unknown	Het
Gpr33	A	G	12: 52,071,036 (GRCm39)	M1T	probably null	Het
Gtf2a1	A	T	12: 91,553,523 (GRCm39)	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,923,210 (GRCm39)	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,703,730 (GRCm39)	T212I	probably damaging	Het
Jag1	A	G	2: 136,957,409 (GRCm39)	V101A	probably benign	Het
Kansl3	A	T	1: 36,404,701 (GRCm39)	V83D	possibly damaging	Het
Krt81	T	A	15: 101,359,006 (GRCm39)	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,200,591 (GRCm39)	S17L	unknown	Het
Macf1	A	T	4: 123,302,989 (GRCm39)	H504Q	probably benign	Het
Map2	A	G	1: 66,455,983 (GRCm39)	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,770,982 (GRCm39)	T892A	probably damaging	Het
Mcl1	G	A	3: 95,567,110 (GRCm39)	V178I	probably benign	Het
Mrs2	T	A	13: 25,188,937 (GRCm39)	M126L	probably benign	Het
Msantd1	C	A	5: 35,075,005 (GRCm39)	N9K	probably benign	Het
Myh9	C	T	15: 77,659,398 (GRCm39)	R116H	probably damaging	Het
Nfib	A	T	4: 82,248,662 (GRCm39)	D308E	probably benign	Het
Nme2	T	A	11: 93,846,416 (GRCm39)	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,292,286 (GRCm39)	D111G	probably benign	Het
Or5d37	T	A	2: 87,924,045 (GRCm39)	L78F	probably damaging	Het
Papss2	T	C	19: 32,641,827 (GRCm39)	W501R	probably damaging	Het
Parn	A	G	16: 13,443,998 (GRCm39)	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,623,864 (GRCm39)	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,465,771 (GRCm39)	N102D	probably benign	Het
Pdzrn3	C	A	6: 101,128,735 (GRCm39)	E644*	probably null	Het
Pi4ka	T	A	16: 17,134,879 (GRCm39)		probably benign	Het
Polg2	A	G	11: 106,668,040 (GRCm39)	F216L	probably damaging	Het
Prkcsh	A	G	9: 21,924,457 (GRCm39)	*522W	probably null	Het
Prkcz	G	T	4: 155,374,091 (GRCm39)	D108E	probably benign	Het
Pros1	T	C	16: 62,748,465 (GRCm39)	V646A	possibly damaging	Het
Ptprc	A	G	1: 138,017,309 (GRCm39)	I483T	probably damaging	Het
Rabep2	T	C	7: 126,044,485 (GRCm39)	I527T	possibly damaging	Het
Rad50	T	C	11: 53,578,929 (GRCm39)	K543R	probably benign	Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Sbpl	A	T	17: 24,172,276 (GRCm39)	N214K	unknown	Het
Scgb2b11	C	T	7: 31,909,907 (GRCm39)	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,956,284 (GRCm39)	E331K	probably damaging	Het
Snx6	A	T	12: 54,830,864 (GRCm39)	L32Q	probably damaging	Het
Srgap3	T	A	6: 112,723,924 (GRCm39)	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157 (GRCm39)	D135G	probably damaging	Het
Steap4	A	G	5: 8,026,858 (GRCm39)	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275 (GRCm39)	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642 (GRCm39)	F797Y	probably benign	Het
Tmem116	T	C	5: 121,605,987 (GRCm39)	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 144,951,457 (GRCm39)	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,991,987 (GRCm39)	Q622K	possibly damaging	Het
Top1mt	A	G	15: 75,550,523 (GRCm39)	V28A	probably benign	Het
Trim25	T	C	11: 88,890,750 (GRCm39)	S146P	probably benign	Het
Tuba3b	A	G	6: 145,566,935 (GRCm39)	D392G	possibly damaging	Het
Utrn	C	T	10: 12,623,665 (GRCm39)	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy2	T	A	14: 63,137,748 (GRCm39)	S84T	probably benign	Het
Zfp873	T	A	10: 81,895,832 (GRCm39)	F225I	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
R4271:C1galt1	UTSW	6	7,866,607 (GRCm39)	missense	probably damaging	1.00
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
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'- GAGAACATAGACGTTGCTGAGAACC -3'
(R):5'- TCATGTATCCCTGCTTCACATAGG -3'

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

Posted On

2019-05-13