Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Colgalt2'

55619

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0605 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

152399830-152510695 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 152495792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119210 (fasta)

Gene Model

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

AlphaFold

Q6NVG7

Predicted Effect

probably benign
Transcript: ENSMUST00000044311

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649

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 benign
Transcript: ENSMUST00000127586

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	Het

Other mutations in Colgalt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Colgalt2	APN	1	152506878	missense	probably damaging	0.98
IGL02900:Colgalt2	APN	1	152508730	missense	probably damaging	0.99
R0280:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0282:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0328:Colgalt2	UTSW	1	152473108	missense	probably damaging	1.00
R0409:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0412:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0485:Colgalt2	UTSW	1	152484871	missense	probably damaging	1.00
R0518:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0519:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0556:Colgalt2	UTSW	1	152471813	splice site	probably benign
R0628:Colgalt2	UTSW	1	152508561	missense	possibly damaging	0.68
R0972:Colgalt2	UTSW	1	152471744	missense	probably damaging	1.00
R1170:Colgalt2	UTSW	1	152503017	missense	probably damaging	1.00
R1373:Colgalt2	UTSW	1	152473161	missense	probably damaging	1.00
R1452:Colgalt2	UTSW	1	152504153	missense	probably damaging	1.00
R1456:Colgalt2	UTSW	1	152484904	missense	probably damaging	1.00
R1544:Colgalt2	UTSW	1	152484952	missense	probably damaging	1.00
R1707:Colgalt2	UTSW	1	152400363	missense	probably damaging	1.00
R2285:Colgalt2	UTSW	1	152468550	missense	probably benign	0.00
R2917:Colgalt2	UTSW	1	152471744	missense	probably damaging	1.00
R3916:Colgalt2	UTSW	1	152508611	nonsense	probably null
R3917:Colgalt2	UTSW	1	152508611	nonsense	probably null
R4250:Colgalt2	UTSW	1	152489887	missense	probably benign	0.00
R4282:Colgalt2	UTSW	1	152468531	missense	probably damaging	1.00
R4421:Colgalt2	UTSW	1	152485012	missense	probably damaging	0.99
R4583:Colgalt2	UTSW	1	152506876	missense	probably damaging	1.00
R4743:Colgalt2	UTSW	1	152400343	missense	probably damaging	0.97
R4751:Colgalt2	UTSW	1	152489876	missense	probably benign	0.34
R4832:Colgalt2	UTSW	1	152484998	missense	possibly damaging	0.87
R4930:Colgalt2	UTSW	1	152499959	missense	possibly damaging	0.92
R5319:Colgalt2	UTSW	1	152484869	missense	possibly damaging	0.78
R5504:Colgalt2	UTSW	1	152400303	missense	possibly damaging	0.88
R5916:Colgalt2	UTSW	1	152504122	missense	probably damaging	1.00
R6006:Colgalt2	UTSW	1	152473161	missense	probably damaging	1.00
R6362:Colgalt2	UTSW	1	152471798	missense	probably damaging	1.00
R6837:Colgalt2	UTSW	1	152506828	missense	probably damaging	1.00
R7464:Colgalt2	UTSW	1	152504144	missense	probably damaging	0.97
R8462:Colgalt2	UTSW	1	152503072	missense	probably damaging	1.00
R8725:Colgalt2	UTSW	1	152484911	missense	probably damaging	0.99
R8727:Colgalt2	UTSW	1	152484911	missense	probably damaging	0.99
R9118:Colgalt2	UTSW	1	152503155	intron	probably benign
R9186:Colgalt2	UTSW	1	152508652	missense	probably damaging	0.98
R9393:Colgalt2	UTSW	1	152484847	nonsense	probably null
R9611:Colgalt2	UTSW	1	152484994	missense	probably damaging	1.00
X0028:Colgalt2	UTSW	1	152471720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTAGGACCCCTGTGAAGCTGCTC -3'
(R):5'- CTTGCTCTCAGACAGATGTTCCACC -3'

Sequencing Primer
(F):5'- TGTGAAGCTGCTCAGCCC -3'
(R):5'- acacagagagacagagggatag -3'

Posted On

2013-07-11