Mutagenetix > Incidental Mutation

Incidental Mutation 'R5618:Csgalnact2'

439634

Institutional Source

Beutler Lab

Gene Symbol

Csgalnact2

Ensembl Gene

ENSMUSG00000042042

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

Synonyms

4632415D10Rik, Galnact2

MMRRC Submission

043277-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118084413-118116101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118103277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 228 (D228E)

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: D228E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: D228E

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 benign
Transcript: ENSMUST00000136265

SMART Domains

Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	G	A	5: 107,696,065 (GRCm39)	W167*	probably null	Het
Acvr1	C	T	2: 58,352,955 (GRCm39)	R335Q	probably damaging	Het
Atg7	A	G	6: 114,650,660 (GRCm39)	D67G	probably damaging	Het
Avil	T	C	10: 126,846,446 (GRCm39)	F417S	possibly damaging	Het
AW551984	A	T	9: 39,502,000 (GRCm39)	L702Q	probably damaging	Het
Bcl7a	A	T	5: 123,499,265 (GRCm39)	N95Y	probably damaging	Het
Cblb	A	G	16: 51,973,031 (GRCm39)	D454G	possibly damaging	Het
Cc2d2a	A	T	5: 43,887,249 (GRCm39)	Q1226H	probably benign	Het
Cct5	A	G	15: 31,598,161 (GRCm39)	S13P	possibly damaging	Het
Clca3a1	C	T	3: 144,710,738 (GRCm39)	E822K	probably benign	Het
Defb12	A	T	8: 19,164,814 (GRCm39)	M8K	possibly damaging	Het
Dipk1b	T	C	2: 26,524,887 (GRCm39)	S96P	probably damaging	Het
Dysf	A	G	6: 84,083,806 (GRCm39)	D736G	probably benign	Het
Exog	G	T	9: 119,291,817 (GRCm39)	D365Y	probably damaging	Het
Fam222b	T	G	11: 78,045,066 (GRCm39)	V81G	probably benign	Het
Fbl	A	G	7: 27,878,411 (GRCm39)	E301G	probably damaging	Het
Fez1	A	T	9: 36,755,228 (GRCm39)	N76Y	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
H2-Q4	T	A	17: 35,598,901 (GRCm39)	F57Y	probably damaging	Het
Ift88	T	C	14: 57,718,965 (GRCm39)	I650T	possibly damaging	Het
Kif1b	A	T	4: 149,354,346 (GRCm39)	D231E	possibly damaging	Het
Lig4	A	T	8: 10,022,021 (GRCm39)	D586E	probably benign	Het
Mlc1	C	A	15: 88,858,769 (GRCm39)	L126F	probably damaging	Het
Muc4	A	G	16: 32,754,253 (GRCm38)	T1376A	probably benign	Het
Ncoa6	A	T	2: 155,279,817 (GRCm39)	D66E	possibly damaging	Het
Or6ae1	A	G	7: 139,742,185 (GRCm39)	V226A	probably damaging	Het
Or8b44	C	T	9: 38,410,036 (GRCm39)	Q24*	probably null	Het
Pard6a	T	C	8: 106,429,546 (GRCm39)	V168A	probably damaging	Het
Pmpcb	A	G	5: 21,947,786 (GRCm39)	N163S	possibly damaging	Het
Pramel27	A	T	4: 143,577,263 (GRCm39)	E15V	possibly damaging	Het
Prdm2	C	T	4: 142,860,107 (GRCm39)	C1061Y	probably benign	Het
Prkdc	A	G	16: 15,627,476 (GRCm39)	Y3378C	probably damaging	Het
Sema6a	A	T	18: 47,415,015 (GRCm39)	V425E	probably damaging	Het
Sema7a	A	T	9: 57,867,566 (GRCm39)	E439D	possibly damaging	Het
Serpinf1	T	A	11: 75,301,010 (GRCm39)	T402S	possibly damaging	Het
Sf3a2	T	C	10: 80,640,410 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,321,545 (GRCm39)	S1346T	probably benign	Het
Smchd1	A	T	17: 71,762,722 (GRCm39)	D172E	probably damaging	Het
Spag5	T	G	11: 78,194,906 (GRCm39)	I71S	probably benign	Het
Spata31d1d	G	A	13: 59,874,214 (GRCm39)	A1107V	probably benign	Het
Svep1	A	C	4: 58,070,537 (GRCm39)	S2416R	probably benign	Het
Tbc1d9	A	G	8: 83,969,221 (GRCm39)	Y503C	probably damaging	Het
Tlr9	A	T	9: 106,101,938 (GRCm39)	I410F	possibly damaging	Het
Tmem87a	C	A	2: 120,199,787 (GRCm39)	L452F	probably benign	Het
Tmprss11d	A	T	5: 86,454,154 (GRCm39)	M217K	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vmn2r80	T	C	10: 78,984,755 (GRCm39)	Y36H	probably benign	Het
Vmn2r87	A	T	10: 130,315,817 (GRCm39)	F83Y	probably damaging	Het
Vmp1	C	T	11: 86,554,388 (GRCm39)	R75H	probably benign	Het
Wapl	T	A	14: 34,413,863 (GRCm39)	Y242N	possibly damaging	Het
Zfp473	T	A	7: 44,391,156 (GRCm39)	D6V	probably benign	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
R5682:Csgalnact2	UTSW	6	118,097,953 (GRCm39)	missense	probably damaging	1.00
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'- TGCGAGTTCTGACTTACCTG -3'
(R):5'- AAAGAGTAGCTGTTTCTGGCTG -3'

Sequencing Primer
(F):5'- GTTCTGCATAAACTGTGAAAACGCC -3'
(R):5'- CTGTACATAGGGGTAGGTATTTCCAC -3'

Posted On

2016-11-08