Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02127:Csgalnact1'

280926

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 #

IGL02127

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,305 (GRCm39)	M661K	probably benign	Het
Arpin	G	A	7: 79,577,941 (GRCm39)	R163W	probably benign	Het
Atm	C	A	9: 53,399,283 (GRCm39)	D1573Y	probably damaging	Het
Avil	A	G	10: 126,847,695 (GRCm39)	N540S	probably benign	Het
Btnl6	T	C	17: 34,733,017 (GRCm39)	Q282R	probably benign	Het
Cacna2d3	T	C	14: 28,785,832 (GRCm39)		probably benign	Het
Cd300ld4	T	C	11: 114,913,545 (GRCm39)	N170S	probably benign	Het
Cgnl1	T	A	9: 71,633,135 (GRCm39)	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,946,878 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,143,379 (GRCm39)	T356S	possibly damaging	Het
Cyp2c69	G	T	19: 39,839,501 (GRCm39)	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,675,307 (GRCm39)	E349G	probably benign	Het
Dnah1	T	C	14: 31,026,885 (GRCm39)	E713G	probably benign	Het
Dnah7b	A	T	1: 46,179,035 (GRCm39)	T903S	probably benign	Het
Enthd1	T	C	15: 80,336,943 (GRCm39)	D497G	probably damaging	Het
Grk4	C	T	5: 34,867,530 (GRCm39)	T165I	probably benign	Het
Hmcn1	G	A	1: 150,598,358 (GRCm39)	S1648L	probably benign	Het
Ints11	A	G	4: 155,971,320 (GRCm39)	Y278C	probably damaging	Het
Kcnu1	T	C	8: 26,382,090 (GRCm39)	L480P	probably damaging	Het
Kif5c	G	A	2: 49,591,122 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,414,128 (GRCm39)	R10H	probably benign	Het
Klhl35	T	C	7: 99,120,888 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,933 (GRCm39)	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,395,365 (GRCm39)	T20I	probably benign	Het
Mab21l1	C	T	3: 55,691,016 (GRCm39)	A201V	probably benign	Het
Mab21l2	T	C	3: 86,454,124 (GRCm39)	D292G	possibly damaging	Het
Map3k21	T	C	8: 126,668,886 (GRCm39)	L824P	probably benign	Het
Myo5a	T	C	9: 75,120,263 (GRCm39)	V1687A	probably benign	Het
Myo5c	G	T	9: 75,208,184 (GRCm39)	W1639C	probably damaging	Het
Nfya	G	T	17: 48,700,283 (GRCm39)		probably benign	Het
Or4a76	A	G	2: 89,461,098 (GRCm39)	I48T	probably damaging	Het
Papolg	A	G	11: 23,820,870 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,686 (GRCm39)	R626C	probably damaging	Het
Pclo	T	C	5: 14,815,159 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,782,014 (GRCm39)		probably benign	Het
Polg	G	A	7: 79,107,915 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,377,479 (GRCm39)	V401A	probably damaging	Het
Scn9a	A	T	2: 66,325,170 (GRCm39)	I1317K	probably damaging	Het
St7	T	A	6: 17,844,968 (GRCm39)		probably benign	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Trmt1	T	C	8: 85,424,100 (GRCm39)	V400A	probably damaging	Het
Trrap	A	G	5: 144,753,243 (GRCm39)	N1856S	probably benign	Het
Ube3a	G	A	7: 58,925,789 (GRCm39)	G210D	probably benign	Het
Ubqln5	A	G	7: 103,778,689 (GRCm39)	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,661,958 (GRCm39)	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606 (GRCm39)	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,446,367 (GRCm39)	E172G	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
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
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

2015-04-16