Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Colgalt1'

557219

Institutional Source

Beutler Lab

Gene Symbol

Colgalt1

Ensembl Gene

ENSMUSG00000034807

Gene Name

collagen beta(1-O)galactosyltransferase 1

Synonyms

2810024B22Rik, Glt25d1

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

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

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72063642-72077555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72076354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 602 (S602P)

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: S602P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: S602P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	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
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
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'- GCTATCTCCCATAGGTCAGAATAC -3'
(R):5'- ACATGGAGACCTCTGTGCTTG -3'

Sequencing Primer
(F):5'- GGTCAGAATACAAGAGTCACTTCTC -3'
(R):5'- CATGGAGACCTCTGTGCTTGTAGAG -3'

Posted On

2019-06-26