Incidental Mutation 'R6236:Chst14'
ID 504929
Institutional Source Beutler Lab
Gene Symbol Chst14
Ensembl Gene ENSMUSG00000074916
Gene Name carbohydrate sulfotransferase 14
Synonyms 2600016L03Rik, D4st1, D4ST-1
MMRRC Submission 044400-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R6236 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118756978-118759066 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118757997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 264 (C264S)
Ref Sequence ENSEMBL: ENSMUSP00000106461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036578] [ENSMUST00000099546] [ENSMUST00000110837]
AlphaFold Q80V53
Predicted Effect probably benign
Transcript: ENSMUST00000036578
SMART Domains Protein: ENSMUSP00000043130
Gene: ENSMUSG00000040007

DomainStartEndE-ValueType
low complexity region 86 108 N/A INTRINSIC
low complexity region 117 141 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
low complexity region 564 579 N/A INTRINSIC
BAH 616 771 1.17e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099546
AA Change: C289S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099579
Gene: ENSMUSG00000074916
AA Change: C289S

DomainStartEndE-ValueType
low complexity region 18 42 N/A INTRINSIC
Pfam:Sulfotransfer_2 139 365 1.6e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110837
AA Change: C264S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106461
Gene: ENSMUSG00000074916
AA Change: C264S

DomainStartEndE-ValueType
low complexity region 18 42 N/A INTRINSIC
Pfam:Sulfotransfer_2 135 340 1.5e-41 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated peripheral nerve regeneration, decreased body weight, premature death, fragile skin and background sensitive abnormal fertility, kinked tail and tooth growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,989,664 (GRCm39) T703A possibly damaging Het
Acd C T 8: 106,427,127 (GRCm39) A49T probably benign Het
Acer1 T A 17: 57,262,231 (GRCm39) I224F probably benign Het
Acvr1 T C 2: 58,367,678 (GRCm39) D161G probably benign Het
Catsper4 T C 4: 133,948,887 (GRCm39) I111V probably benign Het
Cfap210 A C 2: 69,588,385 (GRCm39) probably null Het
Clnk T C 5: 38,870,542 (GRCm39) T339A probably benign Het
Cnot4 T C 6: 35,045,608 (GRCm39) K201R probably benign Het
Col19a1 A G 1: 24,319,030 (GRCm39) V1020A probably damaging Het
Cts6 C A 13: 61,344,192 (GRCm39) E287* probably null Het
Dbf4 T C 5: 8,448,579 (GRCm39) probably benign Het
Diaph3 G A 14: 87,275,004 (GRCm39) R140* probably null Het
Faah T C 4: 115,856,786 (GRCm39) I459V probably benign Het
Fbxw2 A T 2: 34,712,845 (GRCm39) L72H probably damaging Het
Fstl4 G A 11: 53,077,162 (GRCm39) G640S probably benign Het
Gabrb1 C T 5: 72,265,663 (GRCm39) T186M probably damaging Het
Gata2 T C 6: 88,179,548 (GRCm39) probably null Het
Ifi203 A G 1: 173,761,479 (GRCm39) V190A probably benign Het
Kdm3a T C 6: 71,588,641 (GRCm39) E456G probably benign Het
Kl A T 5: 150,876,755 (GRCm39) T192S probably damaging Het
Klhl3 G A 13: 58,232,876 (GRCm39) A77V probably damaging Het
Klri2 A G 6: 129,715,858 (GRCm39) F114L probably benign Het
Lonp2 A T 8: 87,363,215 (GRCm39) R278* probably null Het
Lrp5 A T 19: 3,680,483 (GRCm39) probably null Het
Med13 T A 11: 86,219,357 (GRCm39) H363L probably damaging Het
Metap1d T G 2: 71,346,022 (GRCm39) F194L probably benign Het
Misp A G 10: 79,662,956 (GRCm39) K458E probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myh2 A G 11: 67,081,157 (GRCm39) T1258A probably benign Het
Nipbl T A 15: 8,354,064 (GRCm39) D1691V possibly damaging Het
Nr1i2 C T 16: 38,086,300 (GRCm39) C55Y probably damaging Het
Or11h7 T C 14: 50,891,257 (GRCm39) S188P probably damaging Het
Or7g21 A T 9: 19,032,409 (GRCm39) I50F possibly damaging Het
Pcdhgb4 T C 18: 37,854,345 (GRCm39) Y247H probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Ric1 T A 19: 29,572,826 (GRCm39) D755E possibly damaging Het
Sez6l G T 5: 112,623,110 (GRCm39) T147K possibly damaging Het
Ski A G 4: 155,244,001 (GRCm39) F451S probably benign Het
Slc45a2 C T 15: 11,022,158 (GRCm39) T300I probably benign Het
Smarca2 T C 19: 26,673,613 (GRCm39) V1050A probably benign Het
Spag1 T C 15: 36,211,281 (GRCm39) S476P probably damaging Het
Sptbn2 T A 19: 4,798,166 (GRCm39) S1964T probably benign Het
Sucla2 T A 14: 73,831,190 (GRCm39) D434E probably benign Het
Tbl3 G A 17: 24,919,717 (GRCm39) T779I probably benign Het
Tlr2 T A 3: 83,745,438 (GRCm39) E215V probably benign Het
Tomm40 G A 7: 19,437,281 (GRCm39) P227S probably benign Het
Tpp2 T A 1: 44,016,477 (GRCm39) S711T probably benign Het
Traj32 T A 14: 54,423,565 (GRCm39) Y2* probably null Het
Trim34b A G 7: 103,985,525 (GRCm39) R387G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp5 T C 6: 124,795,441 (GRCm39) T651A probably benign Het
Vmn1r188 T C 13: 22,272,414 (GRCm39) S123P probably damaging Het
Zdhhc14 T C 17: 5,543,918 (GRCm39) L66P probably damaging Het
Zfp712 C T 13: 67,188,685 (GRCm39) C614Y probably damaging Het
Zfp827 A G 8: 79,797,105 (GRCm39) K397R probably damaging Het
Other mutations in Chst14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0506:Chst14 UTSW 2 118,758,202 (GRCm39) missense probably damaging 1.00
R1468:Chst14 UTSW 2 118,758,145 (GRCm39) missense probably damaging 1.00
R1468:Chst14 UTSW 2 118,758,145 (GRCm39) missense probably damaging 1.00
R1640:Chst14 UTSW 2 118,757,379 (GRCm39) missense probably damaging 1.00
R1892:Chst14 UTSW 2 118,757,830 (GRCm39) missense probably damaging 1.00
R1899:Chst14 UTSW 2 118,757,496 (GRCm39) missense possibly damaging 0.62
R6056:Chst14 UTSW 2 118,758,214 (GRCm39) missense probably damaging 1.00
R6246:Chst14 UTSW 2 118,757,482 (GRCm39) missense probably damaging 1.00
R7792:Chst14 UTSW 2 118,758,256 (GRCm39) missense probably benign
R8464:Chst14 UTSW 2 118,757,524 (GRCm39) missense probably benign
R8544:Chst14 UTSW 2 118,758,010 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGTCTGCTTACCGTAACAAG -3'
(R):5'- TAGCACATCTTGAAGCAGGGC -3'

Sequencing Primer
(F):5'- CTGCTTACCGTAACAAGTTTGGAGAG -3'
(R):5'- ATCTTGAAGCAGGGCCCGTG -3'
Posted On 2018-02-28