Mutagenetix > Incidental Mutation

Incidental Mutation 'R5812:Csgalnact1'

447557

Institutional Source

Beutler Lab

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: 0.069) question?

Stock #

R5812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68809433-69187798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68854036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 255 (N255S)

Ref Sequence

ENSEMBL: ENSMUSP00000116134 (fasta)

Gene Model

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

AlphaFold

Q8BJQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000078350
AA Change: N255S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: N255S

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 benign
Transcript: ENSMUST00000130214
AA Change: N255S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: N255S

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 benign
Transcript: ENSMUST00000136060
AA Change: N255S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116134
Gene: ENSMUSG00000036356
AA Change: N255S

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

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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
4930579F01Rik	A	G	3: 137,882,299 (GRCm39)	S9P	probably damaging	Het
Aadacl2fm2	T	A	3: 59,654,693 (GRCm39)	Y176N	probably damaging	Het
Acsl5	G	A	19: 55,283,268 (GRCm39)	V615I	probably benign	Het
Ankk1	T	C	9: 49,338,153 (GRCm39)	K47E	probably benign	Het
Ankrd11	A	T	8: 123,620,544 (GRCm39)		probably null	Het
Bcl9l	T	C	9: 44,417,941 (GRCm39)	V593A	probably benign	Het
Cadps	T	C	14: 12,376,685 (GRCm38)	I1271V	probably benign	Het
Ccdc125	T	C	13: 100,820,812 (GRCm39)	W152R	probably damaging	Het
Cep192	T	C	18: 67,984,808 (GRCm39)	V1606A	possibly damaging	Het
Cxxc5	T	A	18: 35,992,109 (GRCm39)	V170E	probably damaging	Het
Defb6	C	T	8: 19,278,110 (GRCm39)	R61C	possibly damaging	Het
Dnah10	T	A	5: 124,824,810 (GRCm39)	N655K	probably benign	Het
Fry	G	A	5: 150,323,136 (GRCm39)	A1096T	probably damaging	Het
Gli1	C	T	10: 127,173,284 (GRCm39)	G125S	probably damaging	Het
Igkv14-126	A	T	6: 67,873,424 (GRCm39)	I51F	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jtb	T	C	3: 90,141,284 (GRCm39)	S87P	probably benign	Het
Kdm6b	A	T	11: 69,296,755 (GRCm39)	I504N	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map2k4	A	G	11: 65,626,031 (GRCm39)	I136T	probably damaging	Het
Marchf4	T	C	1: 72,468,076 (GRCm39)	T319A	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Nt5e	T	C	9: 88,251,108 (GRCm39)	V459A	probably damaging	Het
Ogdhl	A	G	14: 32,054,822 (GRCm39)	K257E	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2g25	A	G	17: 37,970,630 (GRCm39)	L198P	probably damaging	Het
Osmr	A	T	15: 6,866,540 (GRCm39)	V378D	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pdzd7	G	T	19: 45,025,310 (GRCm39)	T395K	probably damaging	Het
Rasgef1c	A	G	11: 49,847,970 (GRCm39)	D35G	probably benign	Het
Rbm19	T	C	5: 120,279,642 (GRCm39)	F770L	probably damaging	Het
Rit2	C	A	18: 31,108,514 (GRCm39)	C157F	probably damaging	Het
Slc22a22	A	G	15: 57,119,869 (GRCm39)		probably null	Het
Slc8b1	T	C	5: 120,651,403 (GRCm39)		probably null	Het
Speer2	C	A	16: 69,655,783 (GRCm39)	R14S	possibly damaging	Het
Tas2r105	C	A	6: 131,663,836 (GRCm39)	L197F	possibly damaging	Het
Tmprss11b	T	A	5: 86,812,957 (GRCm39)	H113L	possibly damaging	Het
Ttbk2	G	A	2: 120,653,040 (GRCm39)	P64S	probably damaging	Het
Urb1	A	T	16: 90,601,425 (GRCm39)	H115Q	probably damaging	Het
Vps13c	T	A	9: 67,889,777 (GRCm39)		probably benign	Het
Zbtb39	T	A	10: 127,577,429 (GRCm39)	M1K	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTTAAGGAGGGGCAAATAC -3'
(R):5'- AGATACTGTCTTTTCTGAACCTACC -3'

Sequencing Primer
(F):5'- GGGGCAAATACAAATGACAAATTTC -3'
(R):5'- TGAACCTACCTTTGCTTGTTTTG -3'

Posted On

2016-12-15