Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Csgalnact2'

443108

Institutional Source

Beutler Lab

Gene Symbol

Csgalnact2

Ensembl Gene

ENSMUSG00000042042

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

Synonyms

4632415D10Rik, Galnact2

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118084413-118116101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118097953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 371 (Y371C)

Ref Sequence

ENSEMBL: ENSMUSP00000039819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049344] [ENSMUST00000136265]

AlphaFold

Q8C1F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049344
AA Change: Y371C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: Y371C

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:CHGN	53	516	3e-83	PFAM
Pfam:Glyco_tranf_2_2	273	477	4.1e-8	PFAM
Pfam:Glyco_transf_7C	413	489	1.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125531

Predicted Effect

probably damaging
Transcript: ENSMUST00000136265
AA Change: Y129C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042
AA Change: Y129C

Domain	Start	End	E-Value	Type
Pfam:CHGN	2	223	5.8e-45	PFAM
Pfam:Glyco_tranf_2_2	31	223	6.5e-9	PFAM
Pfam:Glyco_transf_7C	170	223	1.2e-9	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably damaging	Het

Other mutations in Csgalnact2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Csgalnact2	APN	6	118,103,233 (GRCm39)	start codon destroyed	probably null	0.88
IGL00955:Csgalnact2	APN	6	118,106,225 (GRCm39)	missense	probably damaging	1.00
IGL01396:Csgalnact2	APN	6	118,103,288 (GRCm39)	missense	probably damaging	1.00
IGL01757:Csgalnact2	APN	6	118,106,307 (GRCm39)	missense	probably damaging	1.00
IGL02687:Csgalnact2	APN	6	118,101,376 (GRCm39)	critical splice acceptor site	probably null
IGL02833:Csgalnact2	APN	6	118,106,229 (GRCm39)	missense	probably damaging	1.00
IGL02837:Csgalnact2	UTSW	6	118,101,364 (GRCm39)	missense	probably benign	0.10
R0206:Csgalnact2	UTSW	6	118,091,347 (GRCm39)	missense	probably benign	0.13
R0761:Csgalnact2	UTSW	6	118,103,073 (GRCm39)	splice site	probably benign
R1201:Csgalnact2	UTSW	6	118,091,393 (GRCm39)	missense	probably damaging	0.98
R2106:Csgalnact2	UTSW	6	118,086,090 (GRCm39)	nonsense	probably null
R3773:Csgalnact2	UTSW	6	118,103,180 (GRCm39)	missense	probably benign	0.17
R3900:Csgalnact2	UTSW	6	118,097,975 (GRCm39)	missense	probably damaging	1.00
R5618:Csgalnact2	UTSW	6	118,103,277 (GRCm39)	missense	probably damaging	0.99
R5744:Csgalnact2	UTSW	6	118,103,197 (GRCm39)	missense	probably damaging	1.00
R5895:Csgalnact2	UTSW	6	118,106,215 (GRCm39)	nonsense	probably null
R7819:Csgalnact2	UTSW	6	118,098,050 (GRCm39)	missense	possibly damaging	0.74
R9089:Csgalnact2	UTSW	6	118,097,983 (GRCm39)	missense	probably damaging	1.00
R9230:Csgalnact2	UTSW	6	118,103,212 (GRCm39)	missense	probably damaging	1.00
R9380:Csgalnact2	UTSW	6	118,105,840 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGGTCAGAGTTTCAACTTAC -3'
(R):5'- ACCTCTAAATGGGACTTATCAGCTC -3'

Sequencing Primer
(F):5'- GGGTCAGAGTTTCAACTTACTACTC -3'
(R):5'- GGACTTATCAGCTCTTGTTTTTGC -3'

Posted On

2016-11-09