Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Colgalt2'

99268

Institutional Source

Beutler Lab

Gene Symbol

Colgalt2

Ensembl Gene

ENSMUSG00000032649

Gene Name

collagen beta(1-O)galactosyltransferase 2

Synonyms

Glt25d2

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

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

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152399830-152510695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152503017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 398 (D398V)

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: D398V

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

SMART Domains

Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: D398V

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: D398V

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

SMART Domains

Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649
AA Change: D398V

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

Meta Mutation Damage Score

0.8959

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412 (GRCm38)		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631 (GRCm38)	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671 (GRCm38)	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734 (GRCm38)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840 (GRCm38)		probably benign	Het
Asb15	T	C	6: 24,562,487 (GRCm38)		probably benign	Het
Asxl3	C	A	18: 22,524,507 (GRCm38)	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391 (GRCm38)	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578 (GRCm38)		probably benign	Het
C1qtnf1	G	T	11: 118,448,269 (GRCm38)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880 (GRCm38)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949 (GRCm38)	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885 (GRCm38)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213 (GRCm38)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970 (GRCm38)		probably benign	Het
Cd36	T	A	5: 17,813,088 (GRCm38)	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475 (GRCm38)	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546 (GRCm38)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687 (GRCm38)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625 (GRCm38)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601 (GRCm38)	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724 (GRCm38)	N232I	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082 (GRCm38)		probably null	Het
Dcdc2a	C	A	13: 25,056,307 (GRCm38)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208 (GRCm38)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180 (GRCm38)	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705 (GRCm38)	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491 (GRCm38)	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922 (GRCm38)		probably benign	Het
Fastkd1	A	G	2: 69,708,649 (GRCm38)		probably benign	Het
Fmnl1	G	A	11: 103,197,370 (GRCm38)	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666 (GRCm38)		probably benign	Het
Fsip2	A	G	2: 82,991,500 (GRCm38)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701 (GRCm38)		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091 (GRCm38)	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815 (GRCm38)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693 (GRCm38)	C93*	probably null	Het
Lig1	C	T	7: 13,292,153 (GRCm38)	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758 (GRCm38)	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229 (GRCm38)		probably benign	Het
Map3k14	A	G	11: 103,238,917 (GRCm38)		probably benign	Het
Mdm4	A	G	1: 133,012,692 (GRCm38)	L33P	probably damaging	Het
Mdm4	A	T	1: 132,991,820 (GRCm38)	C436S	probably damaging	Het
Meiob	T	C	17: 24,836,484 (GRCm38)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706 (GRCm38)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964 (GRCm38)	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233 (GRCm38)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152 (GRCm38)	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039 (GRCm38)	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407 (GRCm38)	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357 (GRCm38)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211 (GRCm38)		probably benign	Het
Nr4a3	A	G	4: 48,083,324 (GRCm38)	K619R	probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm38)	H135R	probably damaging	Het
Nrg1	T	C	8: 31,837,667 (GRCm38)		probably benign	Het
Olfr1031	A	T	2: 85,992,696 (GRCm38)	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215 (GRCm38)	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213 (GRCm38)	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229 (GRCm38)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005 (GRCm38)		probably benign	Het
Pde2a	A	G	7: 101,484,543 (GRCm38)	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302 (GRCm38)		probably benign	Het
Pip4k2c	A	G	10: 127,211,393 (GRCm38)	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744 (GRCm38)		probably benign	Het
Plk4	A	G	3: 40,801,847 (GRCm38)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331 (GRCm38)		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426 (GRCm38)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661 (GRCm38)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547 (GRCm38)		probably null	Het
Prx	T	A	7: 27,518,007 (GRCm38)	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527 (GRCm38)		probably benign	Het
Rbm5	A	T	9: 107,742,497 (GRCm38)	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234 (GRCm38)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631 (GRCm38)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195 (GRCm38)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987 (GRCm38)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752 (GRCm38)	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028 (GRCm38)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977 (GRCm38)	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331 (GRCm38)	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720 (GRCm38)		probably null	Het
Slc6a9	A	G	4: 117,864,806 (GRCm38)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732 (GRCm38)		probably null	Het
Spast	A	G	17: 74,381,968 (GRCm38)		probably null	Het
Spink5	A	T	18: 43,983,563 (GRCm38)	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453 (GRCm38)		probably benign	Het
Stambp	A	G	6: 83,563,821 (GRCm38)		probably null	Het
Sult3a2	A	T	10: 33,777,192 (GRCm38)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662 (GRCm38)	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748 (GRCm38)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260 (GRCm38)	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898 (GRCm38)	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799 (GRCm38)	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620 (GRCm38)	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097 (GRCm38)	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820 (GRCm38)		probably benign	Het
Wdr11	T	C	7: 129,607,107 (GRCm38)		probably benign	Het
Wdr26	A	T	1: 181,181,294 (GRCm38)		probably benign	Het
Wdtc1	A	G	4: 133,297,546 (GRCm38)	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473 (GRCm38)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989 (GRCm38)	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865 (GRCm38)		probably benign	Het

Other mutations in Colgalt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Colgalt2	APN	1	152,506,878 (GRCm38)	missense	probably damaging	0.98
IGL02900:Colgalt2	APN	1	152,508,730 (GRCm38)	missense	probably damaging	0.99
R0280:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0282:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0328:Colgalt2	UTSW	1	152,473,108 (GRCm38)	missense	probably damaging	1.00
R0409:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0412:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0485:Colgalt2	UTSW	1	152,484,871 (GRCm38)	missense	probably damaging	1.00
R0518:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0519:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0556:Colgalt2	UTSW	1	152,471,813 (GRCm38)	splice site	probably benign
R0605:Colgalt2	UTSW	1	152,495,792 (GRCm38)	splice site	probably benign
R0628:Colgalt2	UTSW	1	152,508,561 (GRCm38)	missense	possibly damaging	0.68
R0972:Colgalt2	UTSW	1	152,471,744 (GRCm38)	missense	probably damaging	1.00
R1373:Colgalt2	UTSW	1	152,473,161 (GRCm38)	missense	probably damaging	1.00
R1452:Colgalt2	UTSW	1	152,504,153 (GRCm38)	missense	probably damaging	1.00
R1456:Colgalt2	UTSW	1	152,484,904 (GRCm38)	missense	probably damaging	1.00
R1544:Colgalt2	UTSW	1	152,484,952 (GRCm38)	missense	probably damaging	1.00
R1707:Colgalt2	UTSW	1	152,400,363 (GRCm38)	missense	probably damaging	1.00
R2285:Colgalt2	UTSW	1	152,468,550 (GRCm38)	missense	probably benign	0.00
R2917:Colgalt2	UTSW	1	152,471,744 (GRCm38)	missense	probably damaging	1.00
R3916:Colgalt2	UTSW	1	152,508,611 (GRCm38)	nonsense	probably null
R3917:Colgalt2	UTSW	1	152,508,611 (GRCm38)	nonsense	probably null
R4250:Colgalt2	UTSW	1	152,489,887 (GRCm38)	missense	probably benign	0.00
R4282:Colgalt2	UTSW	1	152,468,531 (GRCm38)	missense	probably damaging	1.00
R4421:Colgalt2	UTSW	1	152,485,012 (GRCm38)	missense	probably damaging	0.99
R4583:Colgalt2	UTSW	1	152,506,876 (GRCm38)	missense	probably damaging	1.00
R4743:Colgalt2	UTSW	1	152,400,343 (GRCm38)	missense	probably damaging	0.97
R4751:Colgalt2	UTSW	1	152,489,876 (GRCm38)	missense	probably benign	0.34
R4832:Colgalt2	UTSW	1	152,484,998 (GRCm38)	missense	possibly damaging	0.87
R4930:Colgalt2	UTSW	1	152,499,959 (GRCm38)	missense	possibly damaging	0.92
R5319:Colgalt2	UTSW	1	152,484,869 (GRCm38)	missense	possibly damaging	0.78
R5504:Colgalt2	UTSW	1	152,400,303 (GRCm38)	missense	possibly damaging	0.88
R5916:Colgalt2	UTSW	1	152,504,122 (GRCm38)	missense	probably damaging	1.00
R6006:Colgalt2	UTSW	1	152,473,161 (GRCm38)	missense	probably damaging	1.00
R6362:Colgalt2	UTSW	1	152,471,798 (GRCm38)	missense	probably damaging	1.00
R6837:Colgalt2	UTSW	1	152,506,828 (GRCm38)	missense	probably damaging	1.00
R7464:Colgalt2	UTSW	1	152,504,144 (GRCm38)	missense	probably damaging	0.97
R8462:Colgalt2	UTSW	1	152,503,072 (GRCm38)	missense	probably damaging	1.00
R8725:Colgalt2	UTSW	1	152,484,911 (GRCm38)	missense	probably damaging	0.99
R8727:Colgalt2	UTSW	1	152,484,911 (GRCm38)	missense	probably damaging	0.99
R9118:Colgalt2	UTSW	1	152,503,155 (GRCm38)	intron	probably benign
R9186:Colgalt2	UTSW	1	152,508,652 (GRCm38)	missense	probably damaging	0.98
R9393:Colgalt2	UTSW	1	152,484,847 (GRCm38)	nonsense	probably null
R9611:Colgalt2	UTSW	1	152,484,994 (GRCm38)	missense	probably damaging	1.00
X0028:Colgalt2	UTSW	1	152,471,720 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15