Incidental Mutation 'R9002:Chst13'
ID 685020
Institutional Source Beutler Lab
Gene Symbol Chst13
Ensembl Gene ENSMUSG00000056643
Gene Name carbohydrate (chondroitin 4) sulfotransferase 13
Synonyms Chst13, C4ST-3, 1110067M19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock # R9002 (G1)
Quality Score 121.008
Status Not validated
Chromosome 6
Chromosomal Location 90308349-90325185 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90309524 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 152 (P152L)
Ref Sequence ENSEMBL: ENSMUSP00000064897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054799] [ENSMUST00000070890] [ENSMUST00000167550]
AlphaFold D3Z6E3
Predicted Effect probably benign
Transcript: ENSMUST00000054799
SMART Domains Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070890
AA Change: P152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: P152L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Sulfotransfer_2 94 328 7.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167550
SMART Domains Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Meta Mutation Damage Score 0.1663 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,291,926 M1263K possibly damaging Het
Abca8b C T 11: 109,952,630 D985N probably benign Het
Ak5 A T 3: 152,653,454 M207K probably damaging Het
Akt1 T C 12: 112,659,614 I75V probably benign Het
Ank T A 15: 27,544,327 L58* probably null Het
Ap1g1 A C 8: 109,855,106 T666P probably benign Het
Ap3b2 A T 7: 81,467,444 S615T probably benign Het
Ash1l G T 3: 88,981,408 R198L probably benign Het
Axl A T 7: 25,778,678 C199S probably damaging Het
C1d T C 11: 17,262,787 L44S probably damaging Het
Col4a4 A G 1: 82,471,311 L1186P probably benign Het
Ctdsp2 T A 10: 126,996,192 I223N probably damaging Het
Eml1 T A 12: 108,538,179 I799N probably damaging Het
Fbxw18 G A 9: 109,690,592 T282I probably damaging Het
Fmo2 A T 1: 162,878,078 C397* probably null Het
Gbp10 C A 5: 105,221,981 V262L probably benign Het
Gm11639 A T 11: 105,029,996 D4671V probably damaging Het
Gm45871 A T 18: 90,591,844 H402L probably damaging Het
Has1 T C 17: 17,843,650 S576G unknown Het
Hat1 C T 2: 71,441,303 R407W probably damaging Het
Hivep2 G T 10: 14,132,413 R1585L probably benign Het
Ifi211 A G 1: 173,906,328 V89A possibly damaging Het
Igkv4-59 T C 6: 69,438,491 T27A possibly damaging Het
Irf9 T A 14: 55,607,683 N333K possibly damaging Het
Jakmip2 C T 18: 43,582,258 V68I probably benign Het
Kif1b T G 4: 149,191,255 I1400L probably damaging Het
Kif2b C T 11: 91,576,227 C410Y probably benign Het
Klk1b16 T C 7: 44,140,765 L153P possibly damaging Het
Kndc1 C T 7: 139,927,795 S1222F possibly damaging Het
Lama5 A G 2: 180,196,518 C855R probably damaging Het
Mast3 A G 8: 70,781,260 L947P probably damaging Het
Mblac2 C A 13: 81,711,953 A142E possibly damaging Het
Mppe1 A G 18: 67,225,854 S348P possibly damaging Het
Mroh8 A C 2: 157,217,019 V909G probably damaging Het
Mthfd1 C T 12: 76,303,980 T712M probably benign Het
Nek10 T C 14: 14,980,590 L982P probably damaging Het
Nlrp4b C T 7: 10,714,959 T363I probably damaging Het
Nol10 A G 12: 17,358,133 E120G probably damaging Het
Olfml1 T C 7: 107,590,216 S163P probably damaging Het
Olfr1104 T C 2: 87,021,897 T216A probably benign Het
Olfr135 A T 17: 38,208,664 N140Y probably benign Het
Olfr522 T C 7: 140,162,285 I222V probably damaging Het
Olfr576 A T 7: 102,965,411 I104F probably damaging Het
Olfr902 T A 9: 38,448,875 M1K probably null Het
Pde6a T A 18: 61,285,989 L812Q probably damaging Het
Pdxp T A 15: 78,918,259 M231K probably damaging Het
Pi4ka A G 16: 17,299,453 L1368P Het
Ppie T C 4: 123,130,551 N171S possibly damaging Het
Rimbp2 T C 5: 128,788,292 H657R probably benign Het
Sarnp T A 10: 128,821,973 probably null Het
Serpinb9c T C 13: 33,150,346 T266A probably damaging Het
Srgap3 T A 6: 112,780,893 I218F possibly damaging Het
Susd1 C A 4: 59,324,882 W717L probably benign Het
Tgfbi A G 13: 56,623,589 Y88C probably damaging Het
Tmc6 A T 11: 117,770,482 F624Y probably damaging Het
Tnni2 A G 7: 142,444,276 E172G probably damaging Het
Traf3ip1 T C 1: 91,505,456 S316P probably benign Het
Tshr C A 12: 91,537,774 N495K possibly damaging Het
Ulk3 C A 9: 57,593,259 A317E probably damaging Het
Usp24 T C 4: 106,418,215 V2229A possibly damaging Het
Usp32 G A 11: 85,053,951 R304C probably damaging Het
Usp40 C T 1: 88,007,341 G28D probably benign Het
Vmn1r41 A G 6: 89,747,127 K217E possibly damaging Het
Vmn2r73 T A 7: 85,858,076 K676M probably benign Het
Vnn1 A G 10: 23,899,451 T200A possibly damaging Het
Zc3hav1 A G 6: 38,325,241 L698P possibly damaging Het
Other mutations in Chst13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03264:Chst13 APN 6 90309211 nonsense probably null
E0374:Chst13 UTSW 6 90309192 nonsense probably null
PIT4520001:Chst13 UTSW 6 90309185 missense probably benign 0.19
R2301:Chst13 UTSW 6 90318289 missense probably damaging 1.00
R2849:Chst13 UTSW 6 90309158 missense probably benign 0.00
R3522:Chst13 UTSW 6 90318263 missense probably damaging 1.00
R5068:Chst13 UTSW 6 90309569 missense possibly damaging 0.69
R5560:Chst13 UTSW 6 90318269 missense probably damaging 1.00
R5888:Chst13 UTSW 6 90309572 missense probably benign 0.37
R6306:Chst13 UTSW 6 90309278 missense probably damaging 0.99
R6393:Chst13 UTSW 6 90325081 missense possibly damaging 0.91
R6572:Chst13 UTSW 6 90309606 missense probably benign 0.00
R7611:Chst13 UTSW 6 90309017 missense probably damaging 1.00
R7767:Chst13 UTSW 6 90309584 missense possibly damaging 0.91
R7880:Chst13 UTSW 6 90325080 missense possibly damaging 0.91
R9010:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9288:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9295:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9296:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9318:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9319:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9397:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9461:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9480:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9481:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9521:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9522:Chst13 UTSW 6 90309524 missense probably damaging 1.00
R9749:Chst13 UTSW 6 90318269 missense probably damaging 1.00
R9787:Chst13 UTSW 6 90309092 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCGTTGAAGGGCTCATGACG -3'
(R):5'- TAACACCACCATCGCTTGTC -3'

Sequencing Primer
(F):5'- GCAGGTAGGCCAGGAACTC -3'
(R):5'- ATCGCTTGTCGCCTGCAG -3'
Posted On 2021-10-11