Mutagenetix > Incidental Mutation

Incidental Mutation 'R2393:Colgalt1'

247869

Institutional Source

Beutler Lab

Gene Symbol

Colgalt1

Ensembl Gene

ENSMUSG00000034807

Gene Name

collagen beta(1-O)galactosyltransferase 1

Synonyms

2810024B22Rik, Glt25d1

MMRRC Submission

040361-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R2393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72063642-72077555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 72076385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 612 (T612S)

Ref Sequence

ENSEMBL: ENSMUSP00000047923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000047903]

AlphaFold

Q8K297

Predicted Effect

probably benign
Transcript: ENSMUST00000030170

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.3e-53	PFAM
C2	1555	1661	5.03e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047903
AA Change: T612S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: T612S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,057 (GRCm39)	L512*	probably null	Het
Adam4	A	T	12: 81,467,485 (GRCm39)	F379I	probably benign	Het
Ano6	C	G	15: 95,863,906 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arfgef3	A	G	10: 18,473,535 (GRCm39)	V1588A	possibly damaging	Het
Arl8a	T	A	1: 135,080,604 (GRCm39)	V93E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cd200r2	T	A	16: 44,729,630 (GRCm39)	I95N	probably damaging	Het
Cd209d	A	G	8: 3,928,436 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,397,100 (GRCm39)		probably null	Het
Chd2	G	T	7: 73,157,631 (GRCm39)	D171E	possibly damaging	Het
Chrna7	G	A	7: 62,748,994 (GRCm39)	A496V	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Copg2	T	C	6: 30,787,893 (GRCm39)	K602E	probably benign	Het
Crtc1	T	A	8: 70,840,808 (GRCm39)	T473S	probably benign	Het
Ctbp2	A	T	7: 132,625,290 (GRCm39)		probably null	Het
Edem1	T	G	6: 108,829,504 (GRCm39)	M541R	probably damaging	Het
Ehmt1	A	C	2: 24,696,229 (GRCm39)	V953G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	C	7: 129,828,968 (GRCm39)		probably null	Het
Focad	A	G	4: 88,039,567 (GRCm39)	D10G	probably damaging	Het
Gfus	G	T	15: 75,798,200 (GRCm39)	L191I	probably damaging	Het
Gm5901	G	T	7: 105,026,996 (GRCm39)	V255F	possibly damaging	Het
Hsp90aa1	T	C	12: 110,659,840 (GRCm39)	N416S	probably damaging	Het
Hspb1	T	C	5: 135,917,950 (GRCm39)	F142L	probably benign	Het
Il17re	C	T	6: 113,439,314 (GRCm39)	H75Y	possibly damaging	Het
Kctd3	A	G	1: 188,713,568 (GRCm39)	I389T	probably damaging	Het
Lhx6	T	C	2: 35,981,402 (GRCm39)	D63G	probably benign	Het
Mepe	A	G	5: 104,485,327 (GRCm39)	T156A	possibly damaging	Het
Met	A	G	6: 17,534,197 (GRCm39)	Y680C	probably damaging	Het
Mrgpra3	T	C	7: 47,239,365 (GRCm39)	Y187C	possibly damaging	Het
Mst1	T	G	9: 107,960,151 (GRCm39)		probably null	Het
Myh13	T	A	11: 67,231,184 (GRCm39)	S394T	possibly damaging	Het
Nbeal1	T	A	1: 60,290,529 (GRCm39)	V1042E	probably damaging	Het
Ndrg4	T	A	8: 96,432,839 (GRCm39)	Y15*	probably null	Het
Neurl4	G	A	11: 69,797,900 (GRCm39)	R720H	probably damaging	Het
Nfkbia	A	G	12: 55,537,455 (GRCm39)		probably benign	Het
Nwd1	T	A	8: 73,389,055 (GRCm39)	M202K	probably benign	Het
Or10d4	G	T	9: 39,580,569 (GRCm39)	C72F	possibly damaging	Het
Or2av9	T	A	11: 58,381,546 (GRCm39)	I12F	probably benign	Het
Pate2	T	C	9: 35,581,036 (GRCm39)		probably benign	Het
Pibf1	A	G	14: 99,480,368 (GRCm39)	T715A	probably benign	Het
Pitpnm1	T	C	19: 4,160,935 (GRCm39)	L858P	probably benign	Het
Pla2g3	A	C	11: 3,443,115 (GRCm39)	S483R	probably benign	Het
Rad51ap2	T	A	12: 11,507,798 (GRCm39)	D573E	probably damaging	Het
Rho	T	C	6: 115,912,352 (GRCm39)		probably benign	Het
Rpl39l	A	T	16: 9,992,328 (GRCm39)	*52L	probably null	Het
Slco1a5	T	A	6: 142,194,501 (GRCm39)	R381W	possibly damaging	Het
Spns3	T	A	11: 72,441,059 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,259,872 (GRCm39)	S493P	probably benign	Het
Tecpr2	T	C	12: 110,892,836 (GRCm39)	S293P	probably damaging	Het
Ttn	C	T	2: 76,583,211 (GRCm39)	V20815M	probably benign	Het
Ushbp1	T	C	8: 71,847,132 (GRCm39)	I167V	probably benign	Het
Wdr81	C	T	11: 75,340,231 (GRCm39)	A1296T	probably damaging	Het
Zmym2	A	G	14: 57,158,180 (GRCm39)	Y573C	probably benign	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
R2050:Colgalt1	UTSW	8	72,070,330 (GRCm39)	critical splice donor site	probably null
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'- TACACAGGGGATGATGGCTATG -3'
(R):5'- GTGCTTGTTCCTGACCAATC -3'

Sequencing Primer
(F):5'- GGATGATGGCTATGTGAGTGAC -3'
(R):5'- CTCCATAAATGCTGCCTGTGTGTAAG -3'

Posted On

2014-11-11