Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Csgalnact1'

291784

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: 0.063) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

68356781-68735146 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68401492 bp (GRCm38)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,402,824	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,555,782	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,697	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,222,833	M231L	probably benign	Het
Cog7	A	G	7: 121,964,209	C227R	probably damaging	Het
Cspg4	A	T	9: 56,886,686	E568D	probably benign	Het
Cwc27	G	A	13: 104,804,254	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,700,019	I330V	probably benign	Het
Dcaf7	T	C	11: 106,053,753	V254A	probably benign	Het
Dhrs7	G	A	12: 72,664,692	R24C	probably damaging	Het
Ehmt2	T	A	17: 34,908,479	C838S	probably damaging	Het
Fn1	A	T	1: 71,618,670		probably null	Het
Gjb3	T	A	4: 127,326,062	S226C	probably benign	Het
Gm14496	A	G	2: 181,996,170	I346V	probably benign	Het
Gm5926	A	G	X: 32,651,386	D224G	probably damaging	Het
Gm8050	T	C	14: 6,717,330	E172G	probably damaging	Het
Higd1a	G	A	9: 121,852,524	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,802,897	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,333,130	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,219,929	I161F	probably damaging	Het
Lrp8	G	T	4: 107,847,494	V304F	probably damaging	Het
Lrp8	C	A	4: 107,869,048	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,466,903	M513L	probably benign	Het
Myo18b	A	T	5: 112,830,312	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,757,891	N945K	probably damaging	Het
Nipbl	A	G	15: 8,327,090	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,851,505	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,203,025	T53I	probably benign	Het
Olfr1054	A	T	2: 86,332,524	Y277*	probably null	Het
Olfr444	A	T	6: 42,956,112	I205F	probably benign	Het
Olfr584	G	A	7: 103,086,106	C191Y	probably damaging	Het
Parp8	A	G	13: 116,910,863		probably null	Het
Pde4dip	T	C	3: 97,766,781	Y273C	probably benign	Het
Pgbd5	C	T	8: 124,384,518	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,739,117		probably benign	Het
Piezo1	A	T	8: 122,486,563	S1819R	probably benign	Het
Polr1a	T	C	6: 71,936,556		probably benign	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prlhr	G	T	19: 60,467,315	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360		probably benign	Het
Rad51ap1	A	T	6: 126,928,151	S132R	probably damaging	Het
Ros1	T	A	10: 52,144,884		probably benign	Het
Ryr3	T	C	2: 112,847,422	D1327G	probably benign	Het
Slit1	A	C	19: 41,602,237	V1332G	probably damaging	Het
Tmem178b	A	G	6: 40,207,527	M120V	probably damaging	Het
Trim25	T	C	11: 88,999,804	C106R	probably damaging	Het
Trim35	A	G	14: 66,309,248	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,621,729	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,535	I315K	probably benign	Het
Zfp654	A	G	16: 64,786,018	V607A	probably benign	Het

Other mutations in Csgalnact1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02015:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02025:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02037:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02059:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02074:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02079:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02080:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02094:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02127:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02128:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02157:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02158:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02197:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02201:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02206:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02207:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02214:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02215:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02229:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02243:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02247:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02248:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02250:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02389:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02394:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02397:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02400:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02404:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02405:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02406:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02420:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02425:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02428:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02436:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02437:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02438:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02468:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02470:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02472:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02473:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02474:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02475:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02510:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02529:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02530:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02531:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02533:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02543:Csgalnact1	APN	8	68461068	missense	probably damaging	1.00
IGL02620:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02625:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02671:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02674:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02683:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02685:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02686:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02697:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02698:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02741:Csgalnact1	APN	8	68401492	missense	probably damaging	1.00
IGL02985:Csgalnact1	APN	8	68461043	missense	probably benign	0.02
R0173:Csgalnact1	UTSW	8	68461029	missense	probably damaging	1.00
R1594:Csgalnact1	UTSW	8	68358632	missense	probably damaging	1.00
R1655:Csgalnact1	UTSW	8	68373689	missense	possibly damaging	0.89
R1873:Csgalnact1	UTSW	8	68401384	missense	probably benign	0.02
R1955:Csgalnact1	UTSW	8	68372667	missense	probably benign
R2421:Csgalnact1	UTSW	8	68461508	missense	probably benign	0.42
R3195:Csgalnact1	UTSW	8	68461085	frame shift	probably null
R3196:Csgalnact1	UTSW	8	68461085	frame shift	probably null
R3951:Csgalnact1	UTSW	8	68461262	missense	probably benign
R4304:Csgalnact1	UTSW	8	68372642	missense	possibly damaging	0.94
R4989:Csgalnact1	UTSW	8	68460971	missense	probably benign	0.01
R5133:Csgalnact1	UTSW	8	68460971	missense	probably benign	0.01
R5134:Csgalnact1	UTSW	8	68460971	missense	probably benign	0.01
R5503:Csgalnact1	UTSW	8	68461473	missense	probably damaging	0.98
R5812:Csgalnact1	UTSW	8	68401384	missense	probably benign	0.02
R6143:Csgalnact1	UTSW	8	68373550	missense	probably damaging	1.00
R6387:Csgalnact1	UTSW	8	68358713	missense	probably damaging	1.00
R6476:Csgalnact1	UTSW	8	68461109	missense	probably damaging	1.00
R6476:Csgalnact1	UTSW	8	68461110	missense	probably damaging	1.00
R7023:Csgalnact1	UTSW	8	68358429	missense	probably benign
R8318:Csgalnact1	UTSW	8	68461133	missense	probably damaging	1.00
R8446:Csgalnact1	UTSW	8	68461091	missense	probably damaging	0.99
R8519:Csgalnact1	UTSW	8	68401453	missense	possibly damaging	0.65
R8674:Csgalnact1	UTSW	8	68373616	missense	possibly damaging	0.91
R8782:Csgalnact1	UTSW	8	68358655	missense	probably damaging	1.00
R9210:Csgalnact1	UTSW	8	68461589	start gained	probably benign
R9619:Csgalnact1	UTSW	8	68401354	missense	probably damaging	0.99
Z1088:Csgalnact1	UTSW	8	68401330	missense	probably damaging	1.00

Posted On

2015-04-16