Incidental Mutation 'IGL02543:Csgalnact1'
ID 298291
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 # IGL02543
Quality Score
Status
Chromosome 8
Chromosomal Location 68809433-69187798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68913720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 162 (T162A)
Ref Sequence ENSEMBL: ENSMUSP00000119817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078350] [ENSMUST00000130214] [ENSMUST00000136060]
AlphaFold Q8BJQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000078350
AA Change: T162A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: T162A

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: T162A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: T162A

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 noncoding transcript
Transcript: ENSMUST00000132076
Predicted Effect probably damaging
Transcript: ENSMUST00000136060
AA Change: T162A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116134
Gene: ENSMUSG00000036356
AA Change: T162A

DomainStartEndE-ValueType
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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,495 (GRCm39) A193S probably damaging Het
Adcy4 T C 14: 56,006,627 (GRCm39) T1069A probably benign Het
Arg2 A T 12: 79,197,533 (GRCm39) I184F probably benign Het
Asb18 G A 1: 89,942,113 (GRCm39) P63S probably damaging Het
Cep85 T C 4: 133,883,634 (GRCm39) H85R possibly damaging Het
Chfr A G 5: 110,291,413 (GRCm39) probably null Het
Cog2 A G 8: 125,256,698 (GRCm39) N148S probably benign Het
Ddi1 C T 9: 6,266,183 (GRCm39) G62D possibly damaging Het
Dhx33 T C 11: 70,878,066 (GRCm39) Y435C probably damaging Het
Dsc3 A T 18: 20,098,885 (GRCm39) C765S probably benign Het
Egfem1 T A 3: 29,722,529 (GRCm39) D362E probably benign Het
Gm28040 A T 1: 133,247,069 (GRCm39) I26F possibly damaging Het
Gm28778 T C 1: 53,338,202 (GRCm39) M22T probably benign Het
Hdac1-ps A G 17: 78,799,303 (GRCm39) E98G probably damaging Het
Hipk2 A G 6: 38,680,436 (GRCm39) I968T possibly damaging Het
Hlx T G 1: 184,462,948 (GRCm39) S235R probably damaging Het
Jag1 T C 2: 136,933,867 (GRCm39) probably benign Het
Kdr A G 5: 76,125,607 (GRCm39) probably benign Het
Klhl3 T C 13: 58,166,685 (GRCm39) E435G probably damaging Het
L3mbtl4 T C 17: 68,768,607 (GRCm39) probably benign Het
Large1 T A 8: 73,775,042 (GRCm39) M223L probably benign Het
Lrp1b T C 2: 40,760,413 (GRCm39) K2838E possibly damaging Het
Ncan T C 8: 70,561,221 (GRCm39) D582G probably benign Het
Nedd9 T C 13: 41,470,211 (GRCm39) D314G probably damaging Het
Nip7 T C 8: 107,784,825 (GRCm39) probably benign Het
Or10j27 T G 1: 172,957,901 (GRCm39) K294N probably damaging Het
Or52ae9 A T 7: 103,389,710 (GRCm39) C246S possibly damaging Het
Or7a42 C A 10: 78,791,773 (GRCm39) H245N probably damaging Het
P3h1 T C 4: 119,095,053 (GRCm39) probably benign Het
Pcp4l1 C T 1: 171,003,133 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,330 (GRCm39) G118D probably benign Het
Prkg1 T C 19: 30,602,134 (GRCm39) D374G possibly damaging Het
Ptcd1 A G 5: 145,091,497 (GRCm39) L534P possibly damaging Het
Rnf123 A G 9: 107,943,547 (GRCm39) S563P probably damaging Het
Scart1 A G 7: 139,800,491 (GRCm39) M91V probably benign Het
Sdk2 A T 11: 113,759,747 (GRCm39) I418N possibly damaging Het
Slc26a4 A G 12: 31,578,688 (GRCm39) I655T possibly damaging Het
Syne1 T C 10: 4,993,618 (GRCm39) K524R probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tbc1d22a C T 15: 86,123,372 (GRCm39) A135V probably benign Het
Tenm3 A C 8: 48,751,991 (GRCm39) W942G probably damaging Het
Thsd7b G A 1: 130,092,840 (GRCm39) V1247I probably benign Het
Treml1 A G 17: 48,667,459 (GRCm39) T115A possibly damaging Het
Ttn T C 2: 76,540,306 (GRCm39) T34227A probably benign Het
Ugt2b38 T A 5: 87,571,342 (GRCm39) D230V probably benign Het
Vmn1r203 G A 13: 22,709,074 (GRCm39) G285D probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Vmn2r98 T G 17: 19,286,083 (GRCm39) S194A probably benign Het
Wdr1 G A 5: 38,703,165 (GRCm39) S137F probably damaging Het
Wnt7b C T 15: 85,443,097 (GRCm39) probably benign Het
Zfp668 A T 7: 127,467,494 (GRCm39) C27* probably null 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
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