Mutagenetix > Incidental Mutation

Incidental Mutation 'R0761:Csgalnact2'

70087

Institutional Source

Beutler Lab

Gene Symbol

Csgalnact2

Ensembl Gene

ENSMUSG00000042042

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

Synonyms

4632415D10Rik, Galnact2

MMRRC Submission

038941-MU

Accession Numbers

Essential gene?

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

Stock #

R0761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118084413-118116101 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 118103073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116371 (fasta)

Gene Model

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

AlphaFold

Q8C1F4

Predicted Effect

probably benign
Transcript: ENSMUST00000049344

SMART Domains

Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (51/51)

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
2610008E11Rik	T	C	10: 78,903,833 (GRCm39)	Y133C	probably benign	Het
Adcy5	G	A	16: 35,091,195 (GRCm39)		probably benign	Het
Asb17	A	G	3: 153,550,052 (GRCm39)	K28R	probably damaging	Het
Bbs10	G	T	10: 111,135,244 (GRCm39)	C119F	probably damaging	Het
Camk2g	G	A	14: 20,816,280 (GRCm39)	Q119*	probably null	Het
Cdh18	A	T	15: 23,226,838 (GRCm39)	I46L	possibly damaging	Het
Cimip2a	T	C	2: 25,110,135 (GRCm39)		probably benign	Het
Clmn	T	A	12: 104,747,817 (GRCm39)	N577Y	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,757,087 (GRCm39)	T965A	probably benign	Het
Crocc	T	C	4: 140,774,387 (GRCm39)	E63G	probably benign	Het
Cryzl2	A	G	1: 157,293,294 (GRCm39)	I132V	probably benign	Het
Ctr9	T	C	7: 110,645,479 (GRCm39)	S569P	probably damaging	Het
Cul3	A	G	1: 80,255,203 (GRCm39)		probably benign	Het
Dcp2	G	A	18: 44,543,300 (GRCm39)	S286N	probably benign	Het
Dgkz	C	T	2: 91,775,696 (GRCm39)	R189H	probably benign	Het
Dst	A	G	1: 34,221,848 (GRCm39)	T2551A	probably benign	Het
Kcna4	T	A	2: 107,126,417 (GRCm39)	S384T	probably benign	Het
Klhl17	T	C	4: 156,317,204 (GRCm39)		probably null	Het
Kmt2e	C	A	5: 23,708,032 (GRCm39)	S1865*	probably null	Het
L3mbtl1	G	A	2: 162,807,967 (GRCm39)	R534H	probably damaging	Het
Lmnb2	A	T	10: 80,742,088 (GRCm39)	M1K	probably null	Het
Lrp1b	T	C	2: 41,075,947 (GRCm39)	D1784G	probably damaging	Het
Lrrc34	A	G	3: 30,685,425 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,421,048 (GRCm39)	Y895*	probably null	Het
Mesd	G	T	7: 83,544,951 (GRCm39)	A143S	probably damaging	Het
Mfap3l	G	T	8: 61,124,615 (GRCm39)	V286L	possibly damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Nek1	T	A	8: 61,542,489 (GRCm39)	D717E	probably benign	Het
Nudt12	A	T	17: 59,318,064 (GRCm39)	D60E	probably benign	Het
Nup205	C	T	6: 35,173,363 (GRCm39)		probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2j3	A	T	17: 38,616,282 (GRCm39)	H23Q	probably benign	Het
Or4a75	T	C	2: 89,448,179 (GRCm39)	D119G	probably damaging	Het
Or5w19	C	T	2: 87,698,880 (GRCm39)	P182S	possibly damaging	Het
Pacs2	T	A	12: 113,023,688 (GRCm39)		probably benign	Het
Pcdha9	T	A	18: 37,133,016 (GRCm39)	L695*	probably null	Het
Pira12	A	T	7: 3,896,978 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Polr1e	C	A	4: 45,027,392 (GRCm39)	D207E	probably damaging	Het
Polr3f	T	A	2: 144,376,327 (GRCm39)	V142E	probably damaging	Het
Psma6	T	A	12: 55,459,127 (GRCm39)	W170R	possibly damaging	Het
Rev3l	T	C	10: 39,750,191 (GRCm39)	Y3114H	probably benign	Het
Rps6ka5	C	T	12: 100,537,141 (GRCm39)	A530T	probably damaging	Het
Simc1	T	C	13: 54,674,387 (GRCm39)	Y912H	probably damaging	Het
Tnfrsf1b	T	C	4: 144,942,670 (GRCm39)	D371G	possibly damaging	Het
Trank1	T	C	9: 111,195,681 (GRCm39)	V1235A	probably damaging	Het
Ttn	T	C	2: 76,577,102 (GRCm39)	E24597G	probably damaging	Het
Ubr2	G	A	17: 47,294,242 (GRCm39)	P297L	probably damaging	Het
Unc5d	A	T	8: 29,186,560 (GRCm39)		probably null	Het
Xpo4	A	G	14: 57,850,840 (GRCm39)	F355L	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
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
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'- GAGTCTCCAAGTAGTTGTCACCTCAGA -3'
(R):5'- GGCTGTACATAGGGGTAGGTATTTCCA -3'

Sequencing Primer
(F):5'- TGCAGCATACATGCTTTGAG -3'
(R):5'- ATCCTTGCCTGAGTGAAATCTG -3'

Posted On

2013-09-30