Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02837:Csgalnact2'

391910

Institutional Source

Beutler Lab

Gene Symbol

Csgalnact2

Ensembl Gene

ENSMUSG00000042042

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

Synonyms

4632415D10Rik, Galnact2

Accession Numbers

Essential gene?

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

Stock #

IGL02837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118084413-118116101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118101364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 55 (I55V)

Ref Sequence

ENSEMBL: ENSMUSP00000116371 (fasta)

Gene Model

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

AlphaFold

Q8C1F4

Predicted Effect

probably benign
Transcript: ENSMUST00000049344
AA Change: I297V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: I297V

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
AA Change: I55V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042
AA Change: I55V

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

0.1189

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (56/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,268,473 (GRCm39)	V786I	probably benign	Het
Adamts13	A	G	2: 26,881,432 (GRCm39)	N803S	probably benign	Het
Ago4	C	G	4: 126,391,093 (GRCm39)	G730R	possibly damaging	Het
Amn	T	A	12: 111,238,333 (GRCm39)	M55K	possibly damaging	Het
Apob	A	T	12: 8,055,102 (GRCm39)	Y1334F	probably damaging	Het
Arl14ep	A	C	2: 106,799,574 (GRCm39)	L89R	probably damaging	Het
Bcam	T	G	7: 19,498,111 (GRCm39)	E304A	probably damaging	Het
Car10	A	T	11: 93,488,077 (GRCm39)	Y258F	probably damaging	Het
Cerk	T	A	15: 86,028,896 (GRCm39)	K82*	probably null	Het
Chac2	T	C	11: 30,927,496 (GRCm39)	N141S	probably damaging	Het
Clpx	T	G	9: 65,231,541 (GRCm39)	L556R	probably damaging	Het
Cul1	T	C	6: 47,500,139 (GRCm39)	V650A	probably benign	Het
Dnah5	A	T	15: 28,269,546 (GRCm39)	E895D	probably benign	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dpys	A	G	15: 39,720,701 (GRCm39)	S20P	probably damaging	Het
Fat1	G	A	8: 45,470,471 (GRCm39)	V1490I	probably benign	Het
Flg2	T	G	3: 93,109,044 (GRCm39)	C357W	probably damaging	Het
Flt1	T	A	5: 147,591,980 (GRCm39)	D494V	probably benign	Het
Fpr-rs4	T	A	17: 18,242,513 (GRCm39)	D173E	probably benign	Het
Gm2666	G	T	1: 85,412,824 (GRCm39)		noncoding transcript	Het
Gm3867	C	A	9: 36,169,096 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,374 (GRCm39)		noncoding transcript	Het
Kit	G	A	5: 75,799,668 (GRCm39)	V467I	probably benign	Het
Krtap4-16	A	G	11: 99,741,863 (GRCm39)	V179A	unknown	Het
Lrp8	C	A	4: 107,718,478 (GRCm39)	H693Q	probably benign	Het
Lrrc49	A	G	9: 60,517,605 (GRCm39)	S75P	probably benign	Het
Ltbp4	C	A	7: 27,013,806 (GRCm39)	V1068L	probably damaging	Het
Magel2	C	T	7: 62,028,008 (GRCm39)	P304L	possibly damaging	Het
Muc19	T	A	15: 91,766,850 (GRCm39)		noncoding transcript	Het
Npas3	T	C	12: 53,993,980 (GRCm39)	V175A	possibly damaging	Het
Nr1h4	A	T	10: 89,352,342 (GRCm39)	H8Q	probably benign	Het
Ntsr2	G	A	12: 16,703,876 (GRCm39)	V126M	probably damaging	Het
Odf2	A	T	2: 29,816,725 (GRCm39)	T725S	probably damaging	Het
Or52e19b	C	T	7: 103,032,822 (GRCm39)	C129Y	probably damaging	Het
Or5h17	C	T	16: 58,820,909 (GRCm39)	P287L	probably damaging	Het
Or9s13	T	C	1: 92,548,404 (GRCm39)	Y259H	possibly damaging	Het
Pgr	T	C	9: 8,946,639 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,603,562 (GRCm39)	C249*	probably null	Het
Plcd3	C	T	11: 102,961,929 (GRCm39)	V726M	possibly damaging	Het
Prl8a1	A	G	13: 27,759,617 (GRCm39)	L140P	probably damaging	Het
Prpf6	C	A	2: 181,264,056 (GRCm39)	D239E	probably damaging	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Rimbp2	G	T	5: 128,874,809 (GRCm39)	Q268K	probably damaging	Het
Rps19-ps13	A	T	18: 40,859,447 (GRCm39)		noncoding transcript	Het
Sema4c	C	A	1: 36,591,965 (GRCm39)	G266V	probably damaging	Het
Sema4g	T	C	19: 44,985,150 (GRCm39)	F156S	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Speer4f1	G	T	5: 17,685,381 (GRCm39)	L225F	unknown	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 144,995,568 (GRCm39)	E497G	probably benign	Het
Trim3	T	C	7: 105,261,863 (GRCm39)	N631S	probably damaging	Het
Trim45	C	T	3: 100,838,943 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,949,731 (GRCm39)	D445G	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
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
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'- CATATACATGCCCAGACAGCTT -3'
(R):5'- ACAGACTTTGTGCTTTGCTGTA -3'

Sequencing Primer
(F):5'- CTGCCGTCTTGTCATAAGAACATGG -3'
(R):5'- CAGACTTTGTGCTTTGCTGTAATATC -3'

Posted On

2016-06-08