Mutagenetix > Incidental Mutation

Incidental Mutation 'R4989:Csgalnact1'

386048

Institutional Source

Beutler Lab

Gene Symbol

Csgalnact1

Ensembl Gene

ENSMUSG00000036356

Gene Name

chondroitin sulfate N-acetylgalactosaminyltransferase 1

Synonyms

CSGalNAcT-1, 4732435N03Rik

MMRRC Submission

042583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4989 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68809433-69187798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68913623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 194 (E194G)

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: E194G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: E194G

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: E194G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: E194G

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

noncoding transcript
Transcript: ENSMUST00000132076

Predicted Effect

probably benign
Transcript: ENSMUST00000136060
AA Change: E194G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116134
Gene: ENSMUSG00000036356
AA Change: E194G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211871

Meta Mutation Damage Score

0.0817

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acot6	A	G	12: 84,155,789 (GRCm39)	K246E	probably benign	Het
Actl11	T	A	9: 107,808,615 (GRCm39)	H979Q	probably damaging	Het
Adal	T	A	2: 120,986,030 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,087,840 (GRCm39)	V596I	probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank1	T	C	8: 23,631,134 (GRCm39)		probably benign	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,763,217 (GRCm39)	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,395,242 (GRCm39)	K217R	probably damaging	Het
Ankrd45	T	C	1: 160,982,876 (GRCm39)	V129A	probably damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,247,806 (GRCm39)	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,764,649 (GRCm39)		probably benign	Het
Auh	A	G	13: 52,995,065 (GRCm39)	S167P	probably damaging	Het
Bach1	A	T	16: 87,515,888 (GRCm39)	K143I	possibly damaging	Het
Bbx	T	A	16: 50,045,101 (GRCm39)	T487S	probably damaging	Het
Bche	T	G	3: 73,609,177 (GRCm39)	D83A	probably benign	Het
Bri3bp	G	T	5: 125,518,760 (GRCm39)		probably benign	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 179,965,366 (GRCm39)	T1028A	probably damaging	Het
Ceacam23	A	G	7: 17,639,143 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,319,945 (GRCm39)	I956V	possibly damaging	Het
Cep95	A	T	11: 106,707,480 (GRCm39)		probably null	Het
Cic	G	T	7: 24,986,535 (GRCm39)	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,650,025 (GRCm39)	Y223H	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Ctsm	A	G	13: 61,686,776 (GRCm39)	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,474,722 (GRCm39)	V119A	probably damaging	Het
Drosha	T	A	15: 12,935,093 (GRCm39)	M1336K	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Erich3	C	T	3: 154,454,025 (GRCm39)	T597I	possibly damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fcgrt	C	T	7: 44,751,372 (GRCm39)	G192D	probably benign	Het
Fras1	A	G	5: 96,798,541 (GRCm39)	E1184G	possibly damaging	Het
Garre1	A	C	7: 33,945,225 (GRCm39)	Y552D	probably damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gvin-ps5	A	T	7: 105,928,664 (GRCm39)		noncoding transcript	Het
Hadh	A	T	3: 131,029,197 (GRCm39)	L274*	probably null	Het
Hus1	T	C	11: 8,956,027 (GRCm39)	S169G	probably damaging	Het
Hydin	A	T	8: 111,290,554 (GRCm39)	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,945,768 (GRCm39)	E28D	probably benign	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Krit1	A	T	5: 3,872,238 (GRCm39)	N421I	probably damaging	Het
Lamb1	A	G	12: 31,376,677 (GRCm39)	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,347,565 (GRCm39)	F3043L	unknown	Het
Lrrc46	A	T	11: 96,931,765 (GRCm39)	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,471,303 (GRCm39)	S197I	probably damaging	Het
Mrps35	A	C	6: 146,961,645 (GRCm39)	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,220,894 (GRCm39)		probably benign	Het
Ncf1	A	C	5: 134,252,267 (GRCm39)	D261E	probably damaging	Het
Notch1	C	T	2: 26,371,193 (GRCm39)	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,928,274 (GRCm39)		probably benign	Het
Or13a18	C	A	7: 140,190,304 (GRCm39)	A75E	possibly damaging	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Or5k3	T	C	16: 58,969,981 (GRCm39)	L256P	probably damaging	Het
Or5v1	G	T	17: 37,810,017 (GRCm39)	L158F	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pakap	T	A	4: 57,856,552 (GRCm39)	V668E	probably benign	Het
Papolg	T	C	11: 23,823,919 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,518,402 (GRCm39)	V342A	probably damaging	Het
Phf2	G	A	13: 48,961,320 (GRCm39)	A790V	unknown	Het
Prkdc	T	C	16: 15,491,861 (GRCm39)	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,343,072 (GRCm39)	I86T	possibly damaging	Het
Prss8	G	T	7: 127,525,635 (GRCm39)	Q295K	probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rpl41	G	T	10: 128,384,652 (GRCm39)		probably null	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Serpini1	T	A	3: 75,521,795 (GRCm39)	N95K	probably benign	Het
Sfxn1	A	T	13: 54,242,933 (GRCm39)	T64S	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,660,509 (GRCm39)	K296N	probably benign	Het
Slc37a1	A	G	17: 31,541,120 (GRCm39)	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,413,800 (GRCm39)	N976S	probably benign	Het
Smarcal1	T	C	1: 72,672,019 (GRCm39)	S847P	possibly damaging	Het
Smg1	A	T	7: 117,757,323 (GRCm39)		probably benign	Het
Smg1	C	T	7: 117,807,274 (GRCm39)	A168T	probably benign	Het
Sptlc1	A	G	13: 53,505,692 (GRCm39)	I242T	probably damaging	Het
St8sia2	T	C	7: 73,616,709 (GRCm39)	I89V	possibly damaging	Het
Supt20	A	T	3: 54,602,555 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,076,457 (GRCm39)	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525 (GRCm39)		probably benign	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmbim6	C	A	15: 99,299,950 (GRCm39)	S22*	probably null	Het
Tmc2	A	T	2: 130,043,961 (GRCm39)	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872 (GRCm39)	S142G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt6	T	C	2: 132,650,191 (GRCm39)	R349G	possibly damaging	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,605,122 (GRCm39)	V16555I	probably benign	Het
Tut4	T	A	4: 108,384,042 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Vmn1r17	A	C	6: 57,337,460 (GRCm39)	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,659,622 (GRCm39)	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vwa5a	A	G	9: 38,633,926 (GRCm39)	E43G	probably benign	Het
Wdr86	C	T	5: 24,917,843 (GRCm39)		probably null	Het
Wdsub1	A	T	2: 59,700,758 (GRCm39)		probably benign	Het
Zcchc7	T	C	4: 44,931,039 (GRCm39)	L76P	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp263	T	C	16: 3,566,992 (GRCm39)	C148R	probably damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACAACACATCTTTGGTGCCC -3'
(R):5'- TACATGCCGGTGTCAAGCTG -3'

Sequencing Primer
(F):5'- ATCTTTGGTGCCCCTCATAAAAAC -3'
(R):5'- TCAAGCTGGCCACGGAGTATG -3'

Posted On

2016-05-10