Mutagenetix > Incidental Mutation

Incidental Mutation 'R4210:Colgalt1'

319130

Institutional Source

Beutler Lab

Gene Symbol

Colgalt1

Ensembl Gene

ENSMUSG00000034807

Gene Name

collagen beta(1-O)galactosyltransferase 1

Synonyms

2810024B22Rik, Glt25d1

MMRRC Submission

041039-MU

Accession Numbers

Essential gene?

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

Stock #

R4210 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

72063642-72077555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72075350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 419 (V419I)

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: V419I

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: V419I

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: 98.5%
10x: 97.1%
20x: 95.0%

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 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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,490,222 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,708 (GRCm39)	Y1076H	probably damaging	Het
Adamts7	C	T	9: 90,076,063 (GRCm39)	T1265I	possibly damaging	Het
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Axin2	T	A	11: 108,833,402 (GRCm39)	I529N	possibly damaging	Het
Bbof1	T	C	12: 84,455,957 (GRCm39)	M1T	probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cmpk2	G	T	12: 26,519,570 (GRCm39)	A74S	probably benign	Het
Crybg3	A	G	16: 59,364,414 (GRCm39)	S2403P	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,632 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,176,578 (GRCm39)	C733S	possibly damaging	Het
Drc1	G	A	5: 30,504,490 (GRCm39)	V211M	possibly damaging	Het
Ephx2	T	C	14: 66,322,393 (GRCm39)	T525A	probably damaging	Het
Eya4	A	G	10: 23,102,698 (GRCm39)		probably null	Het
Foxc1	T	C	13: 31,991,690 (GRCm39)	F167S	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Gm6370	C	A	5: 146,430,734 (GRCm39)	F306L	possibly damaging	Het
Hmgcr	A	G	13: 96,796,729 (GRCm39)	V187A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,242 (GRCm39)	S114R	possibly damaging	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Ikzf3	T	C	11: 98,381,313 (GRCm39)	Y89C	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Iqsec3	T	C	6: 121,389,999 (GRCm39)		probably benign	Het
Itga3	C	A	11: 94,953,449 (GRCm39)	V298L	probably benign	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lbh	T	A	17: 73,228,178 (GRCm39)		probably null	Het
Lrba	G	A	3: 86,267,433 (GRCm39)	G1708S	probably damaging	Het
Lrig2	C	T	3: 104,374,620 (GRCm39)	V154I	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mast4	A	T	13: 102,875,713 (GRCm39)	F1318L	probably damaging	Het
Ncam2	T	C	16: 81,323,991 (GRCm39)	V545A	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Or2w1	A	T	13: 21,317,607 (GRCm39)	I221L	possibly damaging	Het
Or6n2	G	A	1: 173,897,574 (GRCm39)	A237T	probably damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Pdlim4	T	G	11: 53,946,744 (GRCm39)	D181A	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Pik3r4	G	A	9: 105,527,957 (GRCm39)	A437T	possibly damaging	Het
Proser3	G	A	7: 30,245,525 (GRCm39)		probably benign	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Rnf152	A	G	1: 105,212,077 (GRCm39)	V160A	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sidt2	T	C	9: 45,854,073 (GRCm39)	T652A	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Sspo	C	A	6: 48,441,835 (GRCm39)	H1948Q	probably benign	Het
Stap2	G	T	17: 56,304,827 (GRCm39)	Y318*	probably null	Het
Sytl1	T	C	4: 132,980,876 (GRCm39)	D421G	probably damaging	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tenm3	C	T	8: 48,802,439 (GRCm39)	G374D	probably damaging	Het
Terf2	A	G	8: 107,806,080 (GRCm39)	S291P	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Tnxb	T	C	17: 34,929,951 (GRCm39)	I2895T	possibly damaging	Het
Tsbp1	G	T	17: 34,679,257 (GRCm39)		probably benign	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Uxs1	T	A	1: 43,789,398 (GRCm39)	H419L	possibly damaging	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Zc3h14	A	G	12: 98,751,658 (GRCm39)	H199R	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfp976	A	G	7: 42,265,749 (GRCm39)	F12S	probably 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
R2050:Colgalt1	UTSW	8	72,070,330 (GRCm39)	critical splice donor site	probably null
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
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'- TAGTATCACAGGCTAAACACAGGC -3'
(R):5'- TTTGTCCTTAAGCTCCAGGC -3'

Sequencing Primer
(F):5'- GCTAAACACAGGCAGAGGC -3'
(R):5'- TCATGCCTGGGCTAGTACC -3'

Posted On

2015-06-10