Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Colgalt2'

461301

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152275581-152386446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152379873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 437 (D437E)

Ref Sequence

ENSEMBL: ENSMUSP00000119210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044311] [ENSMUST00000127586]

AlphaFold

Q6NVG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044311
AA Change: D437E

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

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: D437E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Glyco_tranf_2_4	61	181	1.3e-20	PFAM
Pfam:Glyco_transf_25	340	525	5.8e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000127586
AA Change: D437E

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

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: D437E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Glyco_tranf_2_4	61	181	4.3e-17	PFAM
Pfam:Glyco_transf_25	340	466	3.2e-37	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,349,550 (GRCm39)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,283,006 (GRCm39)	V1161F	possibly damaging	Het
Adam3	A	T	8: 25,174,555 (GRCm39)		probably null	Het
Agt	A	T	8: 125,290,597 (GRCm39)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,512,181 (GRCm39)	F674L	probably benign	Het
Asb2	G	T	12: 103,290,135 (GRCm39)	A504E	probably damaging	Het
Atp13a1	T	A	8: 70,259,748 (GRCm39)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,112,978 (GRCm39)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm39)	T95A	probably benign	Het
Cfap210	A	T	2: 69,619,806 (GRCm39)	M1K	probably null	Het
Clrn1	T	C	3: 58,753,783 (GRCm39)	T193A	probably benign	Het
Dchs1	C	A	7: 105,408,373 (GRCm39)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,428,073 (GRCm39)	I233N	possibly damaging	Het
Dsc3	T	C	18: 20,120,077 (GRCm39)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,401,460 (GRCm39)	R36S	probably damaging	Het
Fam243	T	A	16: 92,117,559 (GRCm39)	E243V	probably damaging	Het
Fmnl3	A	T	15: 99,219,709 (GRCm39)	C680S	probably damaging	Het
Focad	T	C	4: 88,275,778 (GRCm39)	L1129P	unknown	Het
Fzd3	G	A	14: 65,440,178 (GRCm39)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,766,032 (GRCm39)	I129V	probably benign	Het
Heatr1	T	C	13: 12,449,352 (GRCm39)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,623,188 (GRCm39)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,286,151 (GRCm39)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,447,084 (GRCm39)	C612S	probably damaging	Het
Il36g	T	G	2: 24,082,806 (GRCm39)	*194E	probably null	Het
Junb	T	C	8: 85,704,505 (GRCm39)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,057,243 (GRCm39)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,865,538 (GRCm39)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,323,027 (GRCm39)	T68S	probably benign	Het
Marchf1	G	T	8: 66,839,763 (GRCm39)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,333,882 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,793 (GRCm39)	S2708T	probably benign	Het
Mx1	T	C	16: 97,252,933 (GRCm39)	T396A	probably benign	Het
Naip5	A	C	13: 100,359,209 (GRCm39)	S676A	probably benign	Het
Npepl1	G	T	2: 173,963,337 (GRCm39)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,956,543 (GRCm39)	M1V	probably null	Het
Nufip1	T	C	14: 76,372,340 (GRCm39)	*485Q	probably null	Het
Ocln	T	G	13: 100,642,687 (GRCm39)	D216A	possibly damaging	Het
Or10x1	A	T	1: 174,196,698 (GRCm39)	T72S	probably damaging	Het
Or1o11	C	T	17: 37,756,570 (GRCm39)	L53F	probably benign	Het
Or4f57	A	G	2: 111,791,175 (GRCm39)	M81T	probably damaging	Het
Or55b4	G	A	7: 102,133,586 (GRCm39)	S247F	probably damaging	Het
Ptprq	A	T	10: 107,359,374 (GRCm39)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rfx8	T	C	1: 39,727,779 (GRCm39)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,979,541 (GRCm39)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,430,931 (GRCm39)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,312 (GRCm39)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,809,317 (GRCm39)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,098,809 (GRCm39)	K12E	possibly damaging	Het
Tent2	T	C	13: 93,312,055 (GRCm39)	D215G	probably damaging	Het
Tmcc2	C	T	1: 132,285,429 (GRCm39)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,398,587 (GRCm39)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,741,513 (GRCm39)	L732P	probably damaging	Het
U2af2	A	T	7: 5,082,179 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,540,795 (GRCm39)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,193,816 (GRCm39)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,142,112 (GRCm39)	M3K	possibly damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Colgalt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Colgalt2	APN	1	152,382,629 (GRCm39)	missense	probably damaging	0.98
IGL02900:Colgalt2	APN	1	152,384,481 (GRCm39)	missense	probably damaging	0.99
R0280:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0282:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0328:Colgalt2	UTSW	1	152,348,859 (GRCm39)	missense	probably damaging	1.00
R0409:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0412:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0485:Colgalt2	UTSW	1	152,360,622 (GRCm39)	missense	probably damaging	1.00
R0518:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0519:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0556:Colgalt2	UTSW	1	152,347,564 (GRCm39)	splice site	probably benign
R0605:Colgalt2	UTSW	1	152,371,543 (GRCm39)	splice site	probably benign
R0628:Colgalt2	UTSW	1	152,384,312 (GRCm39)	missense	possibly damaging	0.68
R0972:Colgalt2	UTSW	1	152,347,495 (GRCm39)	missense	probably damaging	1.00
R1170:Colgalt2	UTSW	1	152,378,768 (GRCm39)	missense	probably damaging	1.00
R1373:Colgalt2	UTSW	1	152,348,912 (GRCm39)	missense	probably damaging	1.00
R1452:Colgalt2	UTSW	1	152,379,904 (GRCm39)	missense	probably damaging	1.00
R1456:Colgalt2	UTSW	1	152,360,655 (GRCm39)	missense	probably damaging	1.00
R1544:Colgalt2	UTSW	1	152,360,703 (GRCm39)	missense	probably damaging	1.00
R1707:Colgalt2	UTSW	1	152,276,114 (GRCm39)	missense	probably damaging	1.00
R2285:Colgalt2	UTSW	1	152,344,301 (GRCm39)	missense	probably benign	0.00
R2917:Colgalt2	UTSW	1	152,347,495 (GRCm39)	missense	probably damaging	1.00
R3916:Colgalt2	UTSW	1	152,384,362 (GRCm39)	nonsense	probably null
R3917:Colgalt2	UTSW	1	152,384,362 (GRCm39)	nonsense	probably null
R4250:Colgalt2	UTSW	1	152,365,638 (GRCm39)	missense	probably benign	0.00
R4282:Colgalt2	UTSW	1	152,344,282 (GRCm39)	missense	probably damaging	1.00
R4421:Colgalt2	UTSW	1	152,360,763 (GRCm39)	missense	probably damaging	0.99
R4583:Colgalt2	UTSW	1	152,382,627 (GRCm39)	missense	probably damaging	1.00
R4743:Colgalt2	UTSW	1	152,276,094 (GRCm39)	missense	probably damaging	0.97
R4751:Colgalt2	UTSW	1	152,365,627 (GRCm39)	missense	probably benign	0.34
R4832:Colgalt2	UTSW	1	152,360,749 (GRCm39)	missense	possibly damaging	0.87
R4930:Colgalt2	UTSW	1	152,375,710 (GRCm39)	missense	possibly damaging	0.92
R5319:Colgalt2	UTSW	1	152,360,620 (GRCm39)	missense	possibly damaging	0.78
R5504:Colgalt2	UTSW	1	152,276,054 (GRCm39)	missense	possibly damaging	0.88
R6006:Colgalt2	UTSW	1	152,348,912 (GRCm39)	missense	probably damaging	1.00
R6362:Colgalt2	UTSW	1	152,347,549 (GRCm39)	missense	probably damaging	1.00
R6837:Colgalt2	UTSW	1	152,382,579 (GRCm39)	missense	probably damaging	1.00
R7464:Colgalt2	UTSW	1	152,379,895 (GRCm39)	missense	probably damaging	0.97
R8462:Colgalt2	UTSW	1	152,378,823 (GRCm39)	missense	probably damaging	1.00
R8725:Colgalt2	UTSW	1	152,360,662 (GRCm39)	missense	probably damaging	0.99
R8727:Colgalt2	UTSW	1	152,360,662 (GRCm39)	missense	probably damaging	0.99
R9118:Colgalt2	UTSW	1	152,378,906 (GRCm39)	intron	probably benign
R9186:Colgalt2	UTSW	1	152,384,403 (GRCm39)	missense	probably damaging	0.98
R9393:Colgalt2	UTSW	1	152,360,598 (GRCm39)	nonsense	probably null
R9611:Colgalt2	UTSW	1	152,360,745 (GRCm39)	missense	probably damaging	1.00
X0028:Colgalt2	UTSW	1	152,347,471 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTCTCAGTATTGGGATTGAG -3'
(R):5'- GAAGGAAGTGTGATTGAGTCTCC -3'

Sequencing Primer
(F):5'- GGTTGCTAGCACTGTACAATTAAGG -3'
(R):5'- AAGTGTGATTGAGTCTCCTACCAGC -3'

Posted On

2017-02-28