Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Colgalt1'

226340

Institutional Source

Beutler Lab

Gene Symbol

Colgalt1

Ensembl Gene

ENSMUSG00000034807

Gene Name

collagen beta(1-O)galactosyltransferase 1

Synonyms

2810024B22Rik, Glt25d1

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72063642-72077555 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72070330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047903]

AlphaFold

Q8K297

Predicted Effect

probably null
Transcript: ENSMUST00000047903

SMART Domains

Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Glyco_tranf_2_4	56	176	4.6e-22	PFAM
Pfam:Glyco_transf_25	335	520	8.8e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212706

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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 is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly damaging	Het

Other mutations in Colgalt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Colgalt1	APN	8	72,075,420 (GRCm39)	missense	probably damaging	1.00
IGL01888:Colgalt1	APN	8	72,070,318 (GRCm39)	missense	probably damaging	1.00
IGL03191:Colgalt1	APN	8	72,075,731 (GRCm39)	splice site	probably null
P0041:Colgalt1	UTSW	8	72,075,434 (GRCm39)	missense	probably benign	0.05
R0094:Colgalt1	UTSW	8	72,075,802 (GRCm39)	missense	probably damaging	1.00
R0094:Colgalt1	UTSW	8	72,075,802 (GRCm39)	missense	probably damaging	1.00
R1342:Colgalt1	UTSW	8	72,070,804 (GRCm39)	missense	probably damaging	1.00
R1642:Colgalt1	UTSW	8	72,073,401 (GRCm39)	missense	probably benign	0.01
R1754:Colgalt1	UTSW	8	72,075,823 (GRCm39)	missense	probably damaging	1.00
R1830:Colgalt1	UTSW	8	72,075,781 (GRCm39)	missense	probably damaging	0.99
R1844:Colgalt1	UTSW	8	72,063,995 (GRCm39)	missense	possibly damaging	0.84
R2393:Colgalt1	UTSW	8	72,076,385 (GRCm39)	missense	probably benign	0.00
R2406:Colgalt1	UTSW	8	72,070,312 (GRCm39)	missense	probably damaging	1.00
R3897:Colgalt1	UTSW	8	72,072,306 (GRCm39)	missense	probably damaging	1.00
R4210:Colgalt1	UTSW	8	72,075,350 (GRCm39)	missense	probably benign	0.34
R4909:Colgalt1	UTSW	8	72,073,277 (GRCm39)	missense	possibly damaging	0.80
R5428:Colgalt1	UTSW	8	72,075,420 (GRCm39)	missense	probably damaging	1.00
R5995:Colgalt1	UTSW	8	72,075,754 (GRCm39)	missense	probably damaging	1.00
R6170:Colgalt1	UTSW	8	72,074,514 (GRCm39)	missense	probably damaging	1.00
R6994:Colgalt1	UTSW	8	72,076,165 (GRCm39)	missense	probably damaging	1.00
R6995:Colgalt1	UTSW	8	72,076,165 (GRCm39)	missense	probably damaging	1.00
R7155:Colgalt1	UTSW	8	72,076,354 (GRCm39)	missense	probably damaging	0.99
R7691:Colgalt1	UTSW	8	72,073,398 (GRCm39)	missense	probably benign	0.00
R7877:Colgalt1	UTSW	8	72,074,508 (GRCm39)	missense	probably damaging	1.00
R8899:Colgalt1	UTSW	8	72,076,306 (GRCm39)	missense	probably damaging	1.00
R9719:Colgalt1	UTSW	8	72,073,456 (GRCm39)	missense	probably benign	0.00
X0066:Colgalt1	UTSW	8	72,076,240 (GRCm39)	missense	probably damaging	1.00
Z1177:Colgalt1	UTSW	8	72,075,852 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGAGAGAACTCGGGCTCC -3'
(R):5'- CAAACACACTGCTGCTTCCTG -3'

Sequencing Primer
(F):5'- GGACAGCCATGCCTCTCTAC -3'
(R):5'- GTGTGAATTTGGGCCAGATTCTCAC -3'

Posted On

2014-09-17