Incidental Mutation 'IGL02625:Csgalnact1'
ID 301048
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 # IGL02625
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign 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
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
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