Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02530:Csgalnact1'

297289

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: 0.065) question?

Stock #

IGL02530

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,909,376 (GRCm38)	F305L	probably damaging	Het
Ankrd12	T	C	17: 65,984,403 (GRCm38)	H1345R	probably benign	Het
Bloc1s5	A	T	13: 38,603,883 (GRCm38)	M175K	probably damaging	Het
C9	T	A	15: 6,497,132 (GRCm38)	M549K	probably benign	Het
Cfap52	A	G	11: 67,954,181 (GRCm38)		probably benign	Het
Cntnap2	A	T	6: 47,021,736 (GRCm38)	K907N	possibly damaging	Het
Cox8c	T	A	12: 102,899,493 (GRCm38)		probably null	Het
Cyp26b1	A	T	6: 84,574,312 (GRCm38)	N307K	possibly damaging	Het
Cyp2s1	T	C	7: 25,816,424 (GRCm38)		probably benign	Het
Dpysl2	G	A	14: 66,824,398 (GRCm38)	T253I	probably damaging	Het
Efr3b	C	T	12: 3,983,391 (GRCm38)	V139I	probably benign	Het
Egflam	T	A	15: 7,222,812 (GRCm38)	I835F	probably damaging	Het
Eif5a	A	T	11: 69,919,163 (GRCm38)	H51Q	possibly damaging	Het
Fancd2	T	A	6: 113,562,461 (GRCm38)	I637N	probably damaging	Het
Gpr173	T	A	X: 152,347,096 (GRCm38)	H127L	probably damaging	Het
Klc3	T	C	7: 19,397,044 (GRCm38)	I203V	probably benign	Het
Lsg1	T	C	16: 30,571,242 (GRCm38)	K352E	probably benign	Het
Man2a2	G	A	7: 80,359,640 (GRCm38)	A822V	probably damaging	Het
Med12l	G	T	3: 59,077,089 (GRCm38)	D483Y	probably damaging	Het
Mlh1	A	G	9: 111,229,875 (GRCm38)	Y694H	probably benign	Het
Mmrn1	A	G	6: 60,958,176 (GRCm38)	R219G	possibly damaging	Het
Nsd1	T	C	13: 55,302,833 (GRCm38)		probably benign	Het
Olfr1080	C	T	2: 86,553,880 (GRCm38)	M81I	possibly damaging	Het
Olfr1392	A	T	11: 49,293,728 (GRCm38)	M136L	possibly damaging	Het
Pax3	A	T	1: 78,121,787 (GRCm38)	S322T	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720 (GRCm38)	I3455F	probably damaging	Het
Plekhb2	T	C	1: 34,876,941 (GRCm38)	V187A	possibly damaging	Het
Pot1a	A	T	6: 25,794,593 (GRCm38)	F31I	probably damaging	Het
Rpap1	A	T	2: 119,783,239 (GRCm38)		probably benign	Het
Scmh1	T	A	4: 120,528,146 (GRCm38)		probably benign	Het
Scn2a	A	G	2: 65,730,178 (GRCm38)	T1251A	probably damaging	Het
Siglecf	T	C	7: 43,352,210 (GRCm38)	V148A	probably benign	Het
Slit3	A	G	11: 35,708,142 (GRCm38)	*1524W	probably null	Het
Son	C	A	16: 91,658,471 (GRCm38)	P1369T	possibly damaging	Het
Spp2	T	A	1: 88,411,146 (GRCm38)	L25*	probably null	Het
Sptbn4	T	C	7: 27,391,551 (GRCm38)	Q1405R	probably damaging	Het
Traf3ip2	G	T	10: 39,646,906 (GRCm38)	A463S	possibly damaging	Het
Trappc11	T	C	8: 47,507,582 (GRCm38)	E27G	probably damaging	Het
Vmn2r12	C	T	5: 109,085,992 (GRCm38)	V785I	probably damaging	Het
Zc3h8	A	G	2: 128,943,926 (GRCm38)		probably benign	Het
Zfp57	T	A	17: 37,006,164 (GRCm38)	S45T	probably damaging	Het

Other mutations in Csgalnact1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02015:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02025:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02037:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02059:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02074:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02079:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02080:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02094:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02127:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02128:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02157:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02158:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02197:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02201:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02206:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02207:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02214:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02215:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02229:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02243:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02247:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02248:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02250:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02389:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02394:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02397:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02398:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02400:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02404:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02405:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02406:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02420:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02425:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02428:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02436:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02437:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02438:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02468:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02470:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02472:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02473:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02474:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02475:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02510:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02529:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02531:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02533:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02543:Csgalnact1	APN	8	68,461,068 (GRCm38)	missense	probably damaging	1.00
IGL02620:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02625:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02671:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02674:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02683:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02685:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02686:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02697:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02698:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02741:Csgalnact1	APN	8	68,401,492 (GRCm38)	missense	probably damaging	1.00
IGL02985:Csgalnact1	APN	8	68,461,043 (GRCm38)	missense	probably benign	0.02
R0173:Csgalnact1	UTSW	8	68,461,029 (GRCm38)	missense	probably damaging	1.00
R1594:Csgalnact1	UTSW	8	68,358,632 (GRCm38)	missense	probably damaging	1.00
R1655:Csgalnact1	UTSW	8	68,373,689 (GRCm38)	missense	possibly damaging	0.89
R1873:Csgalnact1	UTSW	8	68,401,384 (GRCm38)	missense	probably benign	0.02
R1955:Csgalnact1	UTSW	8	68,372,667 (GRCm38)	missense	probably benign
R2421:Csgalnact1	UTSW	8	68,461,508 (GRCm38)	missense	probably benign	0.42
R3195:Csgalnact1	UTSW	8	68,461,085 (GRCm38)	frame shift	probably null
R3196:Csgalnact1	UTSW	8	68,461,085 (GRCm38)	frame shift	probably null
R3951:Csgalnact1	UTSW	8	68,461,262 (GRCm38)	missense	probably benign
R4304:Csgalnact1	UTSW	8	68,372,642 (GRCm38)	missense	possibly damaging	0.94
R4989:Csgalnact1	UTSW	8	68,460,971 (GRCm38)	missense	probably benign	0.01
R5133:Csgalnact1	UTSW	8	68,460,971 (GRCm38)	missense	probably benign	0.01
R5134:Csgalnact1	UTSW	8	68,460,971 (GRCm38)	missense	probably benign	0.01
R5503:Csgalnact1	UTSW	8	68,461,473 (GRCm38)	missense	probably damaging	0.98
R5812:Csgalnact1	UTSW	8	68,401,384 (GRCm38)	missense	probably benign	0.02
R6143:Csgalnact1	UTSW	8	68,373,550 (GRCm38)	missense	probably damaging	1.00
R6387:Csgalnact1	UTSW	8	68,358,713 (GRCm38)	missense	probably damaging	1.00
R6476:Csgalnact1	UTSW	8	68,461,110 (GRCm38)	missense	probably damaging	1.00
R6476:Csgalnact1	UTSW	8	68,461,109 (GRCm38)	missense	probably damaging	1.00
R7023:Csgalnact1	UTSW	8	68,358,429 (GRCm38)	missense	probably benign
R8318:Csgalnact1	UTSW	8	68,461,133 (GRCm38)	missense	probably damaging	1.00
R8446:Csgalnact1	UTSW	8	68,461,091 (GRCm38)	missense	probably damaging	0.99
R8519:Csgalnact1	UTSW	8	68,401,453 (GRCm38)	missense	possibly damaging	0.65
R8674:Csgalnact1	UTSW	8	68,373,616 (GRCm38)	missense	possibly damaging	0.91
R8782:Csgalnact1	UTSW	8	68,358,655 (GRCm38)	missense	probably damaging	1.00
R9210:Csgalnact1	UTSW	8	68,461,589 (GRCm38)	start gained	probably benign
R9619:Csgalnact1	UTSW	8	68,401,354 (GRCm38)	missense	probably damaging	0.99
Z1088:Csgalnact1	UTSW	8	68,401,330 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16