Incidental Mutation 'IGL02074:Csgalnact1'
ID 185943
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 # IGL02074
Quality Score
Status
Chromosome 8
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,184,176 (GRCm39) S974G probably benign Het
Abi2 T C 1: 60,486,466 (GRCm39) V209A probably damaging Het
Ankrd33b C A 15: 31,297,807 (GRCm39) V317F probably damaging Het
Arcn1 A G 9: 44,670,309 (GRCm39) C106R probably benign Het
Arhgap35 T C 7: 16,296,980 (GRCm39) H695R probably benign Het
Bag4 G T 8: 26,259,383 (GRCm39) T272K possibly damaging Het
Cnot6 T C 11: 49,580,070 (GRCm39) H74R probably benign Het
Dab1 C A 4: 104,585,051 (GRCm39) A397D possibly damaging Het
Dhrs7b C A 11: 60,742,580 (GRCm39) Q91K probably benign Het
Dixdc1 C T 9: 50,613,317 (GRCm39) V212M probably benign Het
Dnaaf11 T C 15: 66,361,339 (GRCm39) N54S probably damaging Het
Eea1 A G 10: 95,873,349 (GRCm39) E1137G probably damaging Het
Ercc8 T C 13: 108,295,318 (GRCm39) probably benign Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fgd6 A T 10: 93,963,297 (GRCm39) I1132F probably damaging Het
Grin1 C T 2: 25,188,514 (GRCm39) V432I possibly damaging Het
Herc1 A G 9: 66,358,265 (GRCm39) S2449G probably benign Het
Herc2 T A 7: 55,737,192 (GRCm39) probably benign Het
L1cam A G X: 72,906,619 (GRCm39) W275R probably damaging Het
Magi1 A G 6: 93,722,579 (GRCm39) V660A probably damaging Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Mtcl1 T C 17: 66,673,463 (GRCm39) D633G possibly damaging Het
Nexmif A T X: 103,131,497 (GRCm39) M140K probably damaging Het
Or55b3 G T 7: 102,126,679 (GRCm39) H133N probably benign Het
Or7g33 A T 9: 19,449,148 (GRCm39) I26N possibly damaging Het
Or8d23 A T 9: 38,841,979 (GRCm39) T171S probably benign Het
R3hdm1 A G 1: 128,096,775 (GRCm39) T146A possibly damaging Het
Rnf123 A T 9: 107,944,088 (GRCm39) L508Q probably damaging Het
Scaf4 G T 16: 90,039,808 (GRCm39) P812T unknown Het
Slc45a2 A G 15: 11,000,903 (GRCm39) M1V probably null Het
Ttr T C 18: 20,799,580 (GRCm39) V46A probably benign Het
Ubxn8 T C 8: 34,113,206 (GRCm39) K216R possibly damaging Het
Vmn2r109 T C 17: 20,774,603 (GRCm39) I251V probably benign Het
Xlr A T X: 52,798,101 (GRCm39) probably benign Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Other mutations in Csgalnact1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2014-05-07