Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02400:Csgalnact1'

291862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csgalnact1

Ensembl Gene

ENSMUSG00000036356

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 1

Synonyms

CSGalNAcT-1, 4732435N03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02400

Quality Score

Status

Chromosome

Chromosomal Location

68809433-69187798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68854144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 219 (G219V)

Ref Sequence

ENSEMBL: ENSMUSP00000116134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078350] [ENSMUST00000130214] [ENSMUST00000136060]

AlphaFold

Q8BJQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078350
AA Change: G219V

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

SMART Domains

Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: G219V

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:CHGN	55	505	3.5e-85	PFAM
Pfam:Glyco_tranf_2_2	263	478	3.2e-10	PFAM
Pfam:Glyco_transf_7C	409	478	1.7e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130214
AA Change: G219V

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

SMART Domains

Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: G219V

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:CHGN	71	505	1.1e-59	PFAM
Pfam:Glyco_tranf_2_2	263	478	3.6e-10	PFAM
Pfam:Glyco_transf_7C	405	478	3.4e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136060
AA Change: G219V

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

SMART Domains

Protein: ENSMUSP00000116134
Gene: ENSMUSG00000036356
AA Change: G219V

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:CHGN	66	300	1.6e-11	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length, short limbs, and abnormal cartilage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,290,644 (GRCm39)	I128V	possibly damaging	Het
Arfgef3	G	T	10: 18,522,005 (GRCm39)	Q674K	probably damaging	Het
Atp6v0a2	T	A	5: 124,798,849 (GRCm39)	N851K	probably benign	Het
Chrna7	A	G	7: 62,749,070 (GRCm39)	C471R	probably damaging	Het
Egflam	T	A	15: 7,276,534 (GRCm39)	K544M	probably benign	Het
Erbb3	A	C	10: 128,415,393 (GRCm39)	N385K	probably benign	Het
Fancm	A	G	12: 65,160,589 (GRCm39)	R1388G	probably damaging	Het
Gm10720	C	A	9: 3,016,900 (GRCm39)		probably null	Het
Gm20489	A	T	X: 100,306,944 (GRCm39)	N328K	possibly damaging	Het
Gm5828	G	T	1: 16,840,042 (GRCm39)		noncoding transcript	Het
Gnaq	T	C	19: 16,293,492 (GRCm39)	Y145H	probably damaging	Het
Itgbl1	A	G	14: 124,083,938 (GRCm39)	D148G	probably damaging	Het
Myc	T	G	15: 61,861,760 (GRCm39)		probably benign	Het
Or10d5	A	G	9: 39,861,635 (GRCm39)	V144A	probably benign	Het
Or5m3b	A	T	2: 85,872,420 (GRCm39)	I254F	probably benign	Het
Or6c211	A	G	10: 129,505,752 (GRCm39)	V212A	probably damaging	Het
Padi3	T	G	4: 140,516,179 (GRCm39)	K567T	probably benign	Het
Pi4ka	T	C	16: 17,111,748 (GRCm39)	T1576A	probably damaging	Het
Pikfyve	A	G	1: 65,291,728 (GRCm39)	R1316G	probably damaging	Het
Ryr2	A	G	13: 11,620,130 (GRCm39)		probably benign	Het
Sash1	G	A	10: 8,609,411 (GRCm39)	R713*	probably null	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tnfsf4	T	A	1: 161,223,276 (GRCm39)	C42S	possibly damaging	Het
Tpp1	A	G	7: 105,396,238 (GRCm39)	I487T	possibly damaging	Het
Trim43a	T	A	9: 88,464,165 (GRCm39)	N25K	probably benign	Het
Tuft1	T	C	3: 94,542,809 (GRCm39)		probably benign	Het
Usp46	T	C	5: 74,197,713 (GRCm39)	H26R	probably benign	Het
Zfp560	A	T	9: 20,261,896 (GRCm39)	I85N	possibly damaging	Het

Other mutations in Csgalnact1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02015:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02025:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02037:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02059:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02074:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02079:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02080:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02094:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02127:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02128:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02157:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02158:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02197:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02201:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02206:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02207:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02214:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02215:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02229:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02243:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02247:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02248:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02250:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02389:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02394:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02397:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02398:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02404:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02405:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02406:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02420:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02425:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02428:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02436:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02437:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02438:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02468:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02470:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02472:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02473:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02474:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02475:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02510:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02529:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02530:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02531:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02533:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02543:Csgalnact1	APN	8	68,913,720 (GRCm39)	missense	probably damaging	1.00
IGL02620:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02625:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02671:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02674:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02683:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02685:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02686:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02697:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02698:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02741:Csgalnact1	APN	8	68,854,144 (GRCm39)	missense	probably damaging	1.00
IGL02985:Csgalnact1	APN	8	68,913,695 (GRCm39)	missense	probably benign	0.02
R0173:Csgalnact1	UTSW	8	68,913,681 (GRCm39)	missense	probably damaging	1.00
R1594:Csgalnact1	UTSW	8	68,811,284 (GRCm39)	missense	probably damaging	1.00
R1655:Csgalnact1	UTSW	8	68,826,341 (GRCm39)	missense	possibly damaging	0.89
R1873:Csgalnact1	UTSW	8	68,854,036 (GRCm39)	missense	probably benign	0.02
R1955:Csgalnact1	UTSW	8	68,825,319 (GRCm39)	missense	probably benign
R2421:Csgalnact1	UTSW	8	68,914,160 (GRCm39)	missense	probably benign	0.42
R3195:Csgalnact1	UTSW	8	68,913,737 (GRCm39)	frame shift	probably null
R3196:Csgalnact1	UTSW	8	68,913,737 (GRCm39)	frame shift	probably null
R3951:Csgalnact1	UTSW	8	68,913,914 (GRCm39)	missense	probably benign
R4304:Csgalnact1	UTSW	8	68,825,294 (GRCm39)	missense	possibly damaging	0.94
R4989:Csgalnact1	UTSW	8	68,913,623 (GRCm39)	missense	probably benign	0.01
R5133:Csgalnact1	UTSW	8	68,913,623 (GRCm39)	missense	probably benign	0.01
R5134:Csgalnact1	UTSW	8	68,913,623 (GRCm39)	missense	probably benign	0.01
R5503:Csgalnact1	UTSW	8	68,914,125 (GRCm39)	missense	probably damaging	0.98
R5812:Csgalnact1	UTSW	8	68,854,036 (GRCm39)	missense	probably benign	0.02
R6143:Csgalnact1	UTSW	8	68,826,202 (GRCm39)	missense	probably damaging	1.00
R6387:Csgalnact1	UTSW	8	68,811,365 (GRCm39)	missense	probably damaging	1.00
R6476:Csgalnact1	UTSW	8	68,913,762 (GRCm39)	missense	probably damaging	1.00
R6476:Csgalnact1	UTSW	8	68,913,761 (GRCm39)	missense	probably damaging	1.00
R7023:Csgalnact1	UTSW	8	68,811,081 (GRCm39)	missense	probably benign
R8318:Csgalnact1	UTSW	8	68,913,785 (GRCm39)	missense	probably damaging	1.00
R8446:Csgalnact1	UTSW	8	68,913,743 (GRCm39)	missense	probably damaging	0.99
R8519:Csgalnact1	UTSW	8	68,854,105 (GRCm39)	missense	possibly damaging	0.65
R8674:Csgalnact1	UTSW	8	68,826,268 (GRCm39)	missense	possibly damaging	0.91
R8782:Csgalnact1	UTSW	8	68,811,307 (GRCm39)	missense	probably damaging	1.00
R9210:Csgalnact1	UTSW	8	68,914,241 (GRCm39)	start gained	probably benign
R9619:Csgalnact1	UTSW	8	68,854,006 (GRCm39)	missense	probably damaging	0.99
Z1088:Csgalnact1	UTSW	8	68,853,982 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16