Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Colgalt1'

193847

Institutional Source

Beutler Lab

Gene Symbol

Colgalt1

Ensembl Gene

ENSMUSG00000034807

Gene Name

collagen beta(1-O)galactosyltransferase 1

Synonyms

Glt25d1, 2810024B22Rik

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71610998-71624911 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71623179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 490 (W490L)

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 damaging
Transcript: ENSMUST00000047903
AA Change: W490L

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

SMART Domains

Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: W490L

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481	V249D	probably benign	Het
Acp4	T	C	7: 44,255,004	I212V	probably benign	Het
Actl6a	T	A	3: 32,718,574	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201		probably null	Het
Atp6v0a4	T	C	6: 38,067,829	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Ctnna2	A	G	6: 77,636,749	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900		probably null	Het
Egfem1	T	C	3: 29,668,333	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322		probably null	Het
Fcho1	A	G	8: 71,711,246	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814		probably null	Het
Lrrc8d	T	C	5: 105,812,657	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940		probably null	Het
Olfr1186	A	T	2: 88,525,815	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873	E196G	possibly damaging	Het
Pigs	A	G	11: 78,337,847	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,030,719	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,155,601	Y344*	probably null	Het
Pmp2	T	C	3: 10,182,224		probably null	Het
Polr3e	T	C	7: 120,939,298		probably null	Het
Ppp3ca	C	G	3: 136,881,448	I230M	probably benign	Het
Ppp5c	T	C	7: 17,005,310	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368	P34H	probably damaging	Het
Rnf10	A	C	5: 115,245,865	S630R	probably damaging	Het
Rnf168	A	G	16: 32,299,124	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634		probably null	Het
Samd9l	G	T	6: 3,373,126	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366		probably null	Het
Ssh1	A	T	5: 113,955,845	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533		probably null	Het
Vmn2r51	G	T	7: 10,099,946	D388E	probably benign	Het
Zfp106	G	A	2: 120,533,763	S721L	probably damaging	Het
Zfp106	A	C	2: 120,533,764	S721A	probably damaging	Het
Zfp189	T	A	4: 49,529,342	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334	Y289C	probably damaging	Het

Other mutations in Colgalt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Colgalt1	APN	8	71622776	missense	probably damaging	1.00
IGL01888:Colgalt1	APN	8	71617674	missense	probably damaging	1.00
IGL03191:Colgalt1	APN	8	71623087	splice site	probably null
P0041:Colgalt1	UTSW	8	71622790	missense	probably benign	0.05
R0094:Colgalt1	UTSW	8	71623158	missense	probably damaging	1.00
R0094:Colgalt1	UTSW	8	71623158	missense	probably damaging	1.00
R1342:Colgalt1	UTSW	8	71618160	missense	probably damaging	1.00
R1642:Colgalt1	UTSW	8	71620757	missense	probably benign	0.01
R1830:Colgalt1	UTSW	8	71623137	missense	probably damaging	0.99
R1844:Colgalt1	UTSW	8	71611351	missense	possibly damaging	0.84
R2050:Colgalt1	UTSW	8	71617686	critical splice donor site	probably null
R2393:Colgalt1	UTSW	8	71623741	missense	probably benign	0.00
R2406:Colgalt1	UTSW	8	71617668	missense	probably damaging	1.00
R3897:Colgalt1	UTSW	8	71619662	missense	probably damaging	1.00
R4210:Colgalt1	UTSW	8	71622706	missense	probably benign	0.34
R4909:Colgalt1	UTSW	8	71620633	missense	possibly damaging	0.80
R5428:Colgalt1	UTSW	8	71622776	missense	probably damaging	1.00
R5995:Colgalt1	UTSW	8	71623110	missense	probably damaging	1.00
R6170:Colgalt1	UTSW	8	71621870	missense	probably damaging	1.00
R6994:Colgalt1	UTSW	8	71623521	missense	probably damaging	1.00
R6995:Colgalt1	UTSW	8	71623521	missense	probably damaging	1.00
R7155:Colgalt1	UTSW	8	71623710	missense	probably damaging	0.99
R7691:Colgalt1	UTSW	8	71620754	missense	probably benign	0.00
R7877:Colgalt1	UTSW	8	71621864	missense	probably damaging	1.00
R8899:Colgalt1	UTSW	8	71623662	missense	probably damaging	1.00
R9719:Colgalt1	UTSW	8	71620812	missense	probably benign	0.00
X0066:Colgalt1	UTSW	8	71623596	missense	probably damaging	1.00
Z1177:Colgalt1	UTSW	8	71623208	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTTCCCTGTGCCAAGCCTTATGC -3'
(R):5'- TTGGCTCGGTCCCAGTCAGTCTTAAC -3'

Sequencing Primer
(F):5'- GCCAAGCCTTATGCCTTGTC -3'
(R):5'- GAGAAGTGACTCTTGTATTCTGACC -3'

Posted On

2014-05-23