Incidental Mutation 'R0506:Chst14'
ID 47555
Institutional Source Beutler Lab
Gene Symbol Chst14
Ensembl Gene ENSMUSG00000074916
Gene Name carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
Synonyms 2600016L03Rik, D4ST-1, D4st1
MMRRC Submission 038701-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R0506 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118926496-118928585 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118927721 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 357 (L357P)
Ref Sequence ENSEMBL: ENSMUSP00000099579 (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

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: L357P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099579
Gene: ENSMUSG00000074916
AA Change: L357P

low complexity region 18 42 N/A INTRINSIC
Pfam:Sulfotransfer_2 139 365 1.6e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110837
AA Change: L332P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106461
Gene: ENSMUSG00000074916
AA Change: L332P

low complexity region 18 42 N/A INTRINSIC
Pfam:Sulfotransfer_2 135 340 1.5e-41 PFAM
Meta Mutation Damage Score 0.6175 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (100/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 T A 7: 119,538,096 (GRCm38) C378* probably null Het
Ago3 T C 4: 126,417,252 (GRCm38) D56G possibly damaging Het
Ahnak G T 19: 9,009,128 (GRCm38) G2592V probably damaging Het
Aldh6a1 C T 12: 84,433,526 (GRCm38) G470D probably damaging Het
Ankub1 T A 3: 57,690,375 (GRCm38) N58I probably damaging Het
Apol7b G T 15: 77,425,528 (GRCm38) T23K probably benign Het
Arap2 G A 5: 62,606,131 (GRCm38) P1557S possibly damaging Het
Arhgap24 T C 5: 102,875,777 (GRCm38) Y136H probably damaging Het
Atp1a1 A G 3: 101,589,812 (GRCm38) F393L probably damaging Het
Bcdin3d A T 15: 99,470,992 (GRCm38) C109S probably damaging Het
Catsperd A G 17: 56,658,078 (GRCm38) K475R possibly damaging Het
Cblb A G 16: 52,204,480 (GRCm38) T913A probably benign Het
Cbx6 A G 15: 79,828,203 (GRCm38) L341P probably benign Het
Cd177 T C 7: 24,758,356 (GRCm38) Y159C probably damaging Het
Cdh7 A G 1: 110,100,114 (GRCm38) N530D probably damaging Het
Cdk8 T C 5: 146,298,872 (GRCm38) F270L probably damaging Het
Ces2c A T 8: 104,848,024 (GRCm38) T38S probably damaging Het
Clca3b T A 3: 144,822,866 (GRCm38) probably benign Het
Cluh A G 11: 74,664,894 (GRCm38) S839G probably benign Het
Cnga4 T A 7: 105,407,740 (GRCm38) V350E probably damaging Het
Creb1 G A 1: 64,570,267 (GRCm38) G180R probably damaging Het
Csmd3 T C 15: 48,457,511 (GRCm38) E301G probably benign Het
Cyp4f18 A T 8: 71,996,000 (GRCm38) D268E probably benign Het
Dock5 A G 14: 67,784,792 (GRCm38) probably benign Het
Dpy19l4 T A 4: 11,289,715 (GRCm38) H332L probably benign Het
Dync2h1 T A 9: 7,113,153 (GRCm38) H224L probably benign Het
Dzip1l C A 9: 99,663,081 (GRCm38) Q585K possibly damaging Het
Erf C T 7: 25,244,376 (GRCm38) G510D probably damaging Het
Fanci T C 7: 79,432,178 (GRCm38) L623P probably benign Het
Fat1 T C 8: 45,022,951 (GRCm38) V1655A probably damaging Het
Fat4 T C 3: 38,888,314 (GRCm38) V452A probably benign Het
Gal3st4 C T 5: 138,265,889 (GRCm38) G283S probably benign Het
Gm5422 A G 10: 31,250,322 (GRCm38) noncoding transcript Het
Gnal C T 18: 67,088,673 (GRCm38) T49I unknown Het
Gng5 A G 3: 146,503,348 (GRCm38) N57S probably damaging Het
Herc1 A G 9: 66,448,159 (GRCm38) I2231V probably damaging Het
Hgfac G T 5: 35,044,240 (GRCm38) G272W probably damaging Het
Hmcn1 T A 1: 150,742,341 (GRCm38) D1265V possibly damaging Het
Ifi207 T A 1: 173,736,312 (GRCm38) Q47L possibly damaging Het
Klhl40 G A 9: 121,778,067 (GRCm38) E98K probably damaging Het
Lepr G T 4: 101,773,010 (GRCm38) probably benign Het
Lyst A G 13: 13,638,015 (GRCm38) H1004R probably benign Het
Map3k1 T A 13: 111,755,764 (GRCm38) R986* probably null Het
Mmp1b C A 9: 7,387,013 (GRCm38) Q66H possibly damaging Het
Mpo T C 11: 87,803,504 (GRCm38) S107P probably benign Het
Mroh9 T C 1: 163,060,636 (GRCm38) H290R possibly damaging Het
Myo7b A G 18: 31,964,386 (GRCm38) probably null Het
Myom1 T C 17: 71,092,220 (GRCm38) probably benign Het
Nalcn C T 14: 123,596,614 (GRCm38) V50I possibly damaging Het
Negr1 A G 3: 157,160,748 (GRCm38) probably benign Het
Nlrc5 T G 8: 94,493,125 (GRCm38) probably benign Het
Nyap2 G A 1: 81,087,312 (GRCm38) D14N probably damaging Het
Olfr1458 G A 19: 13,103,278 (GRCm38) R3C possibly damaging Het
Olfr1490 T A 19: 13,654,897 (GRCm38) I151N possibly damaging Het
Olfr91 C A 17: 37,093,311 (GRCm38) G188W probably damaging Het
Parp14 A T 16: 35,841,409 (GRCm38) S1419T possibly damaging Het
Piezo2 A G 18: 63,027,544 (GRCm38) F2347S probably damaging Het
Pigf A G 17: 87,008,909 (GRCm38) V147A probably benign Het
Pkhd1 A T 1: 20,559,469 (GRCm38) M637K probably benign Het
Plce1 T C 19: 38,760,138 (GRCm38) I1771T probably benign Het
Ppp6c A T 2: 39,206,648 (GRCm38) probably benign Het
Prag1 T C 8: 36,103,700 (GRCm38) V479A possibly damaging Het
Prss33 A T 17: 23,835,105 (GRCm38) D42E probably benign Het
Psmb10 A G 8: 105,937,545 (GRCm38) V64A possibly damaging Het
Psmd14 A G 2: 61,800,063 (GRCm38) T306A probably benign Het
Psmg1 C T 16: 95,989,487 (GRCm38) probably benign Het
Rc3h2 A T 2: 37,376,659 (GRCm38) probably null Het
Reln C T 5: 21,920,496 (GRCm38) V2730I probably damaging Het
Sec24a A T 11: 51,743,795 (GRCm38) H101Q probably benign Het
Selenoi A G 5: 30,266,956 (GRCm38) N385S probably benign Het
Slc24a4 T C 12: 102,131,623 (GRCm38) probably null Het
Slc4a10 G A 2: 62,250,533 (GRCm38) S338N probably benign Het
Slfn3 A T 11: 83,213,160 (GRCm38) T286S probably damaging Het
Snx29 A G 16: 11,395,303 (GRCm38) D111G probably benign Het
Sp8 T C 12: 118,848,565 (GRCm38) S52P possibly damaging Het
Srek1 G T 13: 103,760,590 (GRCm38) T81K probably damaging Het
Sry C G Y: 2,662,864 (GRCm38) Q265H unknown Het
Taf3 A G 2: 9,940,993 (GRCm38) V600A probably benign Het
Tatdn2 C A 6: 113,702,589 (GRCm38) D298E probably benign Het
Tmem253 A T 14: 52,017,206 (GRCm38) probably benign Het
Tmem63a T A 1: 180,958,049 (GRCm38) probably null Het
Tmprss11b T C 5: 86,661,640 (GRCm38) D331G probably damaging Het
Tor1aip1 T A 1: 156,007,674 (GRCm38) K143* probably null Het
Trappc8 A T 18: 20,844,188 (GRCm38) N841K possibly damaging Het
Trio T C 15: 27,854,963 (GRCm38) Q711R probably benign Het
Trmt10b C A 4: 45,304,306 (GRCm38) T114N probably damaging Het
Trpv2 C A 11: 62,582,906 (GRCm38) A129D probably benign Het
Ttll4 T G 1: 74,688,618 (GRCm38) D846E probably benign Het
Ugt2a3 A G 5: 87,336,649 (GRCm38) L172P possibly damaging Het
Usp19 T A 9: 108,494,487 (GRCm38) F355Y probably damaging Het
Vmn1r209 C T 13: 22,805,944 (GRCm38) G192D probably damaging Het
Vmn2r107 T G 17: 20,357,759 (GRCm38) D443E probably benign Het
Wee2 A T 6: 40,463,253 (GRCm38) E445V probably benign Het
Zer1 A T 2: 30,101,807 (GRCm38) I680N probably damaging Het
Zfhx4 T C 3: 5,402,735 (GRCm38) L2651P probably damaging Het
Zfp692 C T 11: 58,309,055 (GRCm38) Q157* probably null Het
Zfp964 T A 8: 69,663,937 (GRCm38) C396S unknown Het
Other mutations in Chst14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1468:Chst14 UTSW 2 118,927,664 (GRCm38) missense probably damaging 1.00
R1468:Chst14 UTSW 2 118,927,664 (GRCm38) missense probably damaging 1.00
R1640:Chst14 UTSW 2 118,926,898 (GRCm38) missense probably damaging 1.00
R1892:Chst14 UTSW 2 118,927,349 (GRCm38) missense probably damaging 1.00
R1899:Chst14 UTSW 2 118,927,015 (GRCm38) missense possibly damaging 0.62
R6056:Chst14 UTSW 2 118,927,733 (GRCm38) missense probably damaging 1.00
R6236:Chst14 UTSW 2 118,927,516 (GRCm38) missense probably damaging 1.00
R6246:Chst14 UTSW 2 118,927,001 (GRCm38) missense probably damaging 1.00
R7792:Chst14 UTSW 2 118,927,775 (GRCm38) missense probably benign
R8464:Chst14 UTSW 2 118,927,043 (GRCm38) missense probably benign
R8544:Chst14 UTSW 2 118,927,529 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-12