Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02025:Csgalnact1'

184135

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 #

IGL02025

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,866,770 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,187,118 (GRCm39)	T1511A	probably benign	Het
Casp8	A	C	1: 58,863,306 (GRCm39)	I69L	possibly damaging	Het
Cdh23	T	C	10: 60,220,922 (GRCm39)	E1274G	probably damaging	Het
Cfap47	A	T	X: 78,554,036 (GRCm39)	S230R	probably benign	Het
Depdc5	A	G	5: 33,103,976 (GRCm39)		probably null	Het
Dock5	A	G	14: 68,000,736 (GRCm39)	S1656P	probably damaging	Het
Dock6	A	G	9: 21,720,885 (GRCm39)	S1707P	probably damaging	Het
Eddm3b	T	A	14: 51,354,228 (GRCm39)	V72D	probably damaging	Het
Etl4	A	G	2: 20,811,337 (GRCm39)	D1508G	probably damaging	Het
Gm20489	A	C	X: 100,307,290 (GRCm39)	V21G	probably damaging	Het
Il16	T	C	7: 83,302,056 (GRCm39)	N22S	probably damaging	Het
Ksr1	T	C	11: 78,912,276 (GRCm39)		probably null	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Neb	T	C	2: 52,197,751 (GRCm39)	T501A	probably benign	Het
Npnt	A	C	3: 132,596,523 (GRCm39)		probably null	Het
Nr1h5	G	A	3: 102,856,942 (GRCm39)		probably benign	Het
Opalin	T	C	19: 41,060,674 (GRCm39)		probably benign	Het
Or10ak9	G	A	4: 118,726,362 (GRCm39)	C127Y	probably damaging	Het
Or2w6	A	G	13: 21,843,433 (GRCm39)	V20A	possibly damaging	Het
Or9s13	A	G	1: 92,548,269 (GRCm39)	I214V	probably benign	Het
Pls3	A	T	X: 74,840,101 (GRCm39)	L341H	probably damaging	Het
Pnp2	T	A	14: 51,197,010 (GRCm39)	L32H	probably damaging	Het
Prpf40b	T	C	15: 99,212,469 (GRCm39)	F571S	probably damaging	Het
Prss16	A	G	13: 22,187,191 (GRCm39)	S460P	probably damaging	Het
Sh3bp4	T	C	1: 89,073,008 (GRCm39)	S619P	probably benign	Het
Sirpb1b	C	T	3: 15,613,863 (GRCm39)	R73Q	probably damaging	Het
Slc22a8	G	A	19: 8,571,539 (GRCm39)	G90E	possibly damaging	Het
Tbc1d2	G	A	4: 46,620,713 (GRCm39)	R366W	probably damaging	Het
Tns2	T	A	15: 102,020,484 (GRCm39)	Y783*	probably null	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp7	C	T	15: 76,772,464 (GRCm39)	S55F	probably 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
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
IGL02400: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

2014-05-07