Incidental Mutation 'R1873:Csgalnact1'
ID 210943
Institutional Source Beutler Lab
Gene Symbol Csgalnact1
Ensembl Gene ENSMUSG00000036356
Gene Name chondroitin sulfate N-acetylgalactosaminyltransferase 1
Synonyms CSGalNAcT-1, 4732435N03Rik
MMRRC Submission 039895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1873 (G1)
Quality Score 225
Status Validated
Chromosome 8
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

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 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

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 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

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:CHGN 66 300 1.6e-11 PFAM
Meta Mutation Damage Score 0.0837 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 98% (82/84)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,870,781 (GRCm39) I124L probably benign Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam34 A C 8: 44,104,843 (GRCm39) N267K probably benign Het
Anxa5 T C 3: 36,503,551 (GRCm39) D301G probably damaging Het
Atf7ip G T 6: 136,536,886 (GRCm39) D40Y probably damaging Het
Cacna2d2 T G 9: 107,391,071 (GRCm39) M400R probably damaging Het
Cd96 C A 16: 45,938,335 (GRCm39) L43F probably damaging Het
Cep120 T C 18: 53,871,560 (GRCm39) E104G probably damaging Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cfhr4 C T 1: 139,702,398 (GRCm39) E29K probably damaging Het
Chil4 C T 3: 106,113,414 (GRCm39) E168K probably benign Het
Clca3a1 A G 3: 144,452,590 (GRCm39) V631A probably damaging Het
Cluh C T 11: 74,552,902 (GRCm39) A649V possibly damaging Het
Commd9 A G 2: 101,727,502 (GRCm39) T99A probably benign Het
Cyth3 T A 5: 143,683,516 (GRCm39) H138Q possibly damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fyco1 A G 9: 123,652,303 (GRCm39) V1135A probably benign Het
Glcci1 C A 6: 8,537,837 (GRCm39) H152N probably benign Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gnrhr A G 5: 86,330,060 (GRCm39) L320P probably damaging Het
Gorasp1 A T 9: 119,759,306 (GRCm39) S138T probably benign Het
Hars1 C A 18: 36,900,294 (GRCm39) Q469H probably damaging Het
Homer2 T C 7: 81,286,111 (GRCm39) K34E probably damaging Het
Hscb T C 5: 110,978,823 (GRCm39) I198V probably benign Het
Kat6b T C 14: 21,567,057 (GRCm39) S39P probably damaging Het
Kcnk12 G T 17: 88,053,499 (GRCm39) Q388K probably damaging Het
Kcnq3 A G 15: 65,874,104 (GRCm39) I548T probably benign Het
Mark2 A G 19: 7,261,880 (GRCm39) Y351H probably damaging Het
Masp2 A T 4: 148,698,952 (GRCm39) I678F probably damaging Het
Mc4r A T 18: 66,992,531 (GRCm39) I194N probably damaging Het
Ms4a6d A G 19: 11,579,223 (GRCm39) S85P probably damaging Het
Myh4 T A 11: 67,145,569 (GRCm39) Y1351N probably benign Het
Myo16 A G 8: 10,322,789 (GRCm39) D73G probably damaging Het
Mzt1 C T 14: 99,278,097 (GRCm39) probably null Het
Nalcn G A 14: 123,521,013 (GRCm39) H1631Y probably benign Het
Ncf2 A G 1: 152,701,661 (GRCm39) N213S probably benign Het
Nf1 C A 11: 79,437,987 (GRCm39) T99K probably damaging Het
Nsf T C 11: 103,749,843 (GRCm39) S547G probably damaging Het
Ntrk3 T A 7: 78,112,587 (GRCm39) I190F probably benign Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Ogdh A T 11: 6,290,438 (GRCm39) probably benign Het
Or2ag12 T A 7: 106,277,691 (GRCm39) M1L probably damaging Het
Or5b12 C T 19: 12,896,852 (GRCm39) V274M probably damaging Het
Otog G A 7: 45,918,767 (GRCm39) V948I probably damaging Het
Plekhm1 T C 11: 103,264,824 (GRCm39) D880G probably benign Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Polg A G 7: 79,106,241 (GRCm39) L678S probably benign Het
Ptprm C T 17: 66,995,350 (GRCm39) V1293I probably damaging Het
Pwwp3a T A 10: 80,068,442 (GRCm39) D195E possibly damaging Het
Rhou A T 8: 124,387,990 (GRCm39) R241W probably damaging Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Sez6l T C 5: 112,621,276 (GRCm39) probably benign Het
Sost T C 11: 101,855,069 (GRCm39) E80G probably damaging Het
Spag16 C T 1: 69,935,744 (GRCm39) probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Taf1b T A 12: 24,606,668 (GRCm39) L496Q possibly damaging Het
Tarbp1 A G 8: 127,173,786 (GRCm39) I976T probably damaging Het
Tex14 T A 11: 87,390,431 (GRCm39) V376D probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tm9sf1 T C 14: 55,873,680 (GRCm39) D606G probably damaging Het
Tmc2 A C 2: 130,090,676 (GRCm39) N674T possibly damaging Het
Top3a C A 11: 60,638,810 (GRCm39) E562* probably null Het
Umodl1 A T 17: 31,201,238 (GRCm39) D389V probably damaging Het
Uso1 T C 5: 92,340,718 (GRCm39) probably benign Het
Vmn1r205 A G 13: 22,776,223 (GRCm39) V293A possibly damaging Het
Vmn2r107 A G 17: 20,565,840 (GRCm39) T52A probably benign Het
Vmn2r4 C T 3: 64,298,479 (GRCm39) V461I possibly damaging Het
Vmn2r99 A T 17: 19,582,415 (GRCm39) I7F probably benign Het
Vps11 A G 9: 44,271,233 (GRCm39) F80S probably damaging Het
Wdr43 A G 17: 71,940,647 (GRCm39) S258G probably benign Het
Zbtb24 A G 10: 41,327,123 (GRCm39) D3G probably benign Het
Zc3hav1 C T 6: 38,309,692 (GRCm39) V377I possibly damaging Het
Zfp668 T C 7: 127,465,654 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGCTTTAAGGAGGGGCAAATAC -3'
(R):5'- AGATACTGTCTTTTCTGAACCTACC -3'

Sequencing Primer
(F):5'- GGGGCAAATACAAATGACAAATTTC -3'
(R):5'- TGAACCTACCTTTGCTTGTTTTG -3'
Posted On 2014-06-30