Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:C1galt1'

391552

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

042620-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5029 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

7845224-7872042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7863931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 4 (K4E)

Ref Sequence

ENSEMBL: ENSMUSP00000047931 (fasta)

Gene Model

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

AlphaFold

Q9JJ06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040159
AA Change: K4E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047931
Gene: ENSMUSG00000042460
AA Change: K4E

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

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Ank	T	C	15: 27,590,439 (GRCm39)	V341A	probably benign	Het
Bnip3	T	A	7: 138,499,848 (GRCm39)		probably benign	Het
Cbs	T	A	17: 31,834,456 (GRCm39)	Q511L	possibly damaging	Het
Ccdc117	T	C	11: 5,484,897 (GRCm39)	H109R	possibly damaging	Het
Cdh4	T	A	2: 179,523,742 (GRCm39)	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,054,962 (GRCm39)	N109S	probably damaging	Het
Dact2	A	T	17: 14,416,114 (GRCm39)	S695R	probably benign	Het
Defa21	A	T	8: 21,516,381 (GRCm39)	E75V	probably damaging	Het
Dimt1	A	G	13: 107,093,630 (GRCm39)	D274G	probably null	Het
Dstyk	G	T	1: 132,377,062 (GRCm39)	V223L	probably benign	Het
Dync1h1	T	A	12: 110,584,444 (GRCm39)	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,515,769 (GRCm39)	I1619F	probably benign	Het
Gm4744	T	A	6: 40,926,341 (GRCm39)	Y83F	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hpx	T	G	7: 105,240,971 (GRCm39)	Y434S	probably damaging	Het
Ints4	A	G	7: 97,158,981 (GRCm39)	D451G	probably benign	Het
Itgb4	A	T	11: 115,879,417 (GRCm39)		probably benign	Het
Jph1	T	A	1: 17,161,615 (GRCm39)	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,259,694 (GRCm39)	L26P	probably benign	Het
M1ap	A	C	6: 82,980,813 (GRCm39)	D233A	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mycbp2	A	G	14: 103,393,946 (GRCm39)	S2762P	probably benign	Het
Myh11	T	A	16: 14,023,489 (GRCm39)	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,972,123 (GRCm39)	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,815,760 (GRCm39)	C342G	probably benign	Het
Nxn	A	C	11: 76,165,356 (GRCm39)	Y199*	probably null	Het
Or6c206	T	A	10: 129,097,707 (GRCm39)	N292K	probably benign	Het
Or7c19	C	T	8: 85,957,835 (GRCm39)	A237V	probably benign	Het
Or8j3b	A	G	2: 86,205,234 (GRCm39)	I174T	probably damaging	Het
Pacs1	A	G	19: 5,192,299 (GRCm39)	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,899,864 (GRCm39)	V232A	probably benign	Het
Pik3cb	A	T	9: 98,936,113 (GRCm39)	M773K	probably damaging	Het
Plxnb1	T	C	9: 108,943,723 (GRCm39)	Y1937H	probably damaging	Het
Ppfia2	C	A	10: 106,693,304 (GRCm39)	T603N	probably benign	Het
Psg22	A	G	7: 18,453,662 (GRCm39)	Y119C	probably damaging	Het
Saraf	G	T	8: 34,628,412 (GRCm39)	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stpg3	T	C	2: 25,104,576 (GRCm39)	N13S	probably damaging	Het
Taf1a	T	A	1: 183,177,273 (GRCm39)	D50E	possibly damaging	Het
Tlr1	T	A	5: 65,083,024 (GRCm39)	N518Y	probably damaging	Het
Tnik	G	A	3: 28,719,993 (GRCm39)		probably null	Het
Tomm70a	T	A	16: 56,942,514 (GRCm39)	L97Q	probably benign	Het
Vmn2r97	T	A	17: 19,168,173 (GRCm39)	V809E	probably damaging	Het
Vps13d	T	C	4: 144,882,852 (GRCm39)	I914V	probably benign	Het
Zfyve26	A	T	12: 79,333,097 (GRCm39)	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	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
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'- GAAGGGATTAACTTCCACAGGG -3'
(R):5'- ACAGAGCCTACCTTTATGTTGG -3'

Sequencing Primer
(F):5'- CAGGGAATTAAACCTCAGAATACTTC -3'
(R):5'- GCTGGAATCTGCATTGAAGTTCATC -3'

Posted On

2016-06-06