Incidental Mutation 'R5233:Ndst4'
ID 398086
Institutional Source Beutler Lab
Gene Symbol Ndst4
Ensembl Gene ENSMUSG00000027971
Gene Name N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4
Synonyms 4930439H17Rik
MMRRC Submission 042805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5233 (G1)
Quality Score 197
Status Validated
Chromosome 3
Chromosomal Location 125197725-125522548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125503766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 11 (Y11C)
Ref Sequence ENSEMBL: ENSMUSP00000142414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173932] [ENSMUST00000174648] [ENSMUST00000198101]
AlphaFold Q9EQW8
Predicted Effect probably damaging
Transcript: ENSMUST00000173932
AA Change: Y670C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: Y670C

DomainStartEndE-ValueType
Pfam:HSNSD 20 505 1.2e-251 PFAM
Pfam:Sulfotransfer_1 594 857 1.2e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174648
AA Change: Y162C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: Y162C

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 86 349 6.6e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198101
AA Change: Y11C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971
AA Change: Y11C

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 3 148 7e-22 PFAM
Meta Mutation Damage Score 0.9125 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a phenotype restricted to the colonic epithelium that includes an increased number of colon goblet cells, a decreased number of colonocytes, and increased apoptosis of colonic epithelial cells in the proximal colon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030619P08Rik T A 15: 75,301,801 (GRCm39) noncoding transcript Het
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Acsl6 G A 11: 54,216,432 (GRCm39) V200I possibly damaging Het
Alms1 T A 6: 85,633,353 (GRCm39) probably null Het
Arhgef17 A T 7: 100,530,576 (GRCm39) D1403E possibly damaging Het
Atp10b A G 11: 43,121,387 (GRCm39) T1017A probably benign Het
Capg C T 6: 72,532,509 (GRCm39) R25C probably damaging Het
Cd22 A G 7: 30,576,959 (GRCm39) I116T probably damaging Het
Cep135 AGTCTGCCTTTGG A 5: 76,739,690 (GRCm39) probably benign Het
Ciita A T 16: 10,327,265 (GRCm39) I277F possibly damaging Het
Col15a1 T C 4: 47,296,112 (GRCm39) V943A possibly damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Csn3 C T 5: 88,077,694 (GRCm39) P67S probably benign Het
Csrnp3 A G 2: 65,852,684 (GRCm39) T359A possibly damaging Het
Cttnbp2nl A G 3: 104,912,357 (GRCm39) L509P probably damaging Het
Dclk3 A G 9: 111,297,749 (GRCm39) D431G probably benign Het
Dtx3l A T 16: 35,753,608 (GRCm39) C333S possibly damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Fam171a1 G C 2: 3,179,390 (GRCm39) G72A probably damaging Het
Fbxw17 T C 13: 50,586,390 (GRCm39) probably benign Het
Fry A G 5: 150,393,185 (GRCm39) D605G possibly damaging Het
Fyn T C 10: 39,405,936 (GRCm39) F240S probably benign Het
Gcfc2 T C 6: 81,930,271 (GRCm39) L646P probably damaging Het
Gm5087 C T 14: 13,158,788 (GRCm38) noncoding transcript Het
Got2 T A 8: 96,602,477 (GRCm39) N91I probably benign Het
Hspa4 C T 11: 53,177,802 (GRCm39) V103I possibly damaging Het
Itgad A G 7: 127,792,600 (GRCm39) probably null Het
Krt33a A G 11: 99,904,961 (GRCm39) S182P probably damaging Het
Mcph1 T C 8: 18,721,254 (GRCm39) I694T probably damaging Het
Mmp15 T C 8: 96,097,696 (GRCm39) V502A probably benign Het
Mov10l1 T C 15: 88,867,235 (GRCm39) V23A probably benign Het
Myo9a T A 9: 59,817,900 (GRCm39) N2322K probably damaging Het
Nell1 T C 7: 49,826,062 (GRCm39) F199S probably damaging Het
Nup210 C T 6: 91,003,951 (GRCm39) V646M probably damaging Het
Nup98 A T 7: 101,845,029 (GRCm39) S13R unknown Het
Nxf1 T C 19: 8,741,293 (GRCm39) I54T possibly damaging Het
Or8b38 A G 9: 37,973,446 (GRCm39) T277A probably damaging Het
Pcdh10 C A 3: 45,338,626 (GRCm39) R928S probably damaging Het
Pou3f3 A G 1: 42,737,438 (GRCm39) N378S probably benign Het
Rfx6 T A 10: 51,588,187 (GRCm39) Y109* probably null Het
Rorc T A 3: 94,304,632 (GRCm39) V339D probably benign Het
Scin T A 12: 40,127,558 (GRCm39) I411F probably benign Het
Serpind1 A G 16: 17,154,758 (GRCm39) Y195C probably damaging Het
Tas2r117 T C 6: 132,780,585 (GRCm39) V241A possibly damaging Het
Tet3 T A 6: 83,363,045 (GRCm39) E709V probably damaging Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Vmn1r212 C A 13: 23,067,304 (GRCm39) G343V unknown Het
Vmn2r42 T A 7: 8,197,837 (GRCm39) K261* probably null Het
Xrcc5 T A 1: 72,379,209 (GRCm39) L438Q probably damaging Het
Zfp142 T C 1: 74,624,608 (GRCm39) N72S probably damaging Het
Zfp292 A T 4: 34,809,755 (GRCm39) S1096R probably damaging Het
Other mutations in Ndst4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Ndst4 APN 3 125,231,860 (GRCm39) missense probably damaging 0.98
IGL00926:Ndst4 APN 3 125,355,102 (GRCm39) missense probably benign 0.01
IGL01292:Ndst4 APN 3 125,232,403 (GRCm39) missense probably damaging 1.00
IGL01797:Ndst4 APN 3 125,476,802 (GRCm39) missense probably damaging 0.99
R0004:Ndst4 UTSW 3 125,364,475 (GRCm39) missense probably benign 0.03
R0118:Ndst4 UTSW 3 125,405,210 (GRCm39) nonsense probably null
R0652:Ndst4 UTSW 3 125,405,188 (GRCm39) missense possibly damaging 0.93
R1437:Ndst4 UTSW 3 125,355,099 (GRCm39) missense probably damaging 0.97
R1502:Ndst4 UTSW 3 125,231,407 (GRCm39) start gained probably benign
R1900:Ndst4 UTSW 3 125,491,544 (GRCm39) splice site probably null
R1960:Ndst4 UTSW 3 125,232,331 (GRCm39) nonsense probably null
R2249:Ndst4 UTSW 3 125,231,823 (GRCm39) missense probably benign 0.16
R2334:Ndst4 UTSW 3 125,501,825 (GRCm39) missense possibly damaging 0.86
R2345:Ndst4 UTSW 3 125,501,769 (GRCm39) missense possibly damaging 0.95
R3617:Ndst4 UTSW 3 125,231,782 (GRCm39) missense probably benign 0.00
R3713:Ndst4 UTSW 3 125,355,154 (GRCm39) missense possibly damaging 0.93
R3715:Ndst4 UTSW 3 125,355,154 (GRCm39) missense possibly damaging 0.93
R3954:Ndst4 UTSW 3 125,231,554 (GRCm39) missense probably benign 0.01
R4013:Ndst4 UTSW 3 125,476,819 (GRCm39) missense probably damaging 1.00
R4035:Ndst4 UTSW 3 125,232,385 (GRCm39) missense probably damaging 1.00
R4085:Ndst4 UTSW 3 125,403,131 (GRCm39) missense probably benign
R4496:Ndst4 UTSW 3 125,476,922 (GRCm39) missense probably damaging 1.00
R4498:Ndst4 UTSW 3 125,232,007 (GRCm39) missense probably damaging 1.00
R5187:Ndst4 UTSW 3 125,231,560 (GRCm39) missense probably damaging 0.98
R5518:Ndst4 UTSW 3 125,232,105 (GRCm39) missense probably benign
R5575:Ndst4 UTSW 3 125,231,479 (GRCm39) missense probably benign 0.41
R5687:Ndst4 UTSW 3 125,232,258 (GRCm39) missense possibly damaging 0.79
R5940:Ndst4 UTSW 3 125,355,068 (GRCm39) splice site probably benign
R6027:Ndst4 UTSW 3 125,507,025 (GRCm39) missense probably benign 0.38
R6406:Ndst4 UTSW 3 125,232,150 (GRCm39) missense probably benign
R6540:Ndst4 UTSW 3 125,515,801 (GRCm39) nonsense probably null
R6941:Ndst4 UTSW 3 125,403,160 (GRCm39) missense possibly damaging 0.93
R7108:Ndst4 UTSW 3 125,355,120 (GRCm39) missense probably damaging 0.96
R7269:Ndst4 UTSW 3 125,232,007 (GRCm39) missense probably damaging 1.00
R7278:Ndst4 UTSW 3 125,231,952 (GRCm39) missense probably benign 0.00
R7345:Ndst4 UTSW 3 125,508,308 (GRCm39) missense probably benign 0.07
R7405:Ndst4 UTSW 3 125,476,865 (GRCm39) missense probably benign
R7418:Ndst4 UTSW 3 125,501,800 (GRCm39) missense probably damaging 0.99
R7592:Ndst4 UTSW 3 125,364,436 (GRCm39) missense probably damaging 0.99
R7714:Ndst4 UTSW 3 125,364,493 (GRCm39) missense probably benign 0.08
R7955:Ndst4 UTSW 3 125,231,831 (GRCm39) nonsense probably null
R8070:Ndst4 UTSW 3 125,508,293 (GRCm39) missense probably damaging 1.00
R8412:Ndst4 UTSW 3 125,364,439 (GRCm39) missense possibly damaging 0.76
R8553:Ndst4 UTSW 3 125,503,756 (GRCm39) missense probably damaging 1.00
R8744:Ndst4 UTSW 3 125,506,989 (GRCm39) missense possibly damaging 0.94
R8933:Ndst4 UTSW 3 125,405,155 (GRCm39) missense probably damaging 0.99
R8940:Ndst4 UTSW 3 125,474,802 (GRCm39) start gained probably benign
R8984:Ndst4 UTSW 3 125,515,810 (GRCm39) missense probably damaging 1.00
R9147:Ndst4 UTSW 3 125,231,722 (GRCm39) missense probably damaging 1.00
R9148:Ndst4 UTSW 3 125,231,722 (GRCm39) missense probably damaging 1.00
R9194:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9196:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9202:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9203:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9217:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9311:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9355:Ndst4 UTSW 3 125,403,246 (GRCm39) missense probably damaging 1.00
R9402:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9415:Ndst4 UTSW 3 125,518,385 (GRCm39) missense probably benign 0.19
R9475:Ndst4 UTSW 3 125,508,296 (GRCm39) nonsense probably null
R9544:Ndst4 UTSW 3 125,476,808 (GRCm39) missense probably damaging 1.00
R9588:Ndst4 UTSW 3 125,476,808 (GRCm39) missense probably damaging 1.00
R9626:Ndst4 UTSW 3 125,476,829 (GRCm39) missense probably damaging 1.00
R9640:Ndst4 UTSW 3 125,232,196 (GRCm39) missense probably damaging 0.99
R9691:Ndst4 UTSW 3 125,518,344 (GRCm39) missense unknown
R9716:Ndst4 UTSW 3 125,232,211 (GRCm39) missense probably damaging 1.00
X0027:Ndst4 UTSW 3 125,231,595 (GRCm39) missense probably benign
Z1177:Ndst4 UTSW 3 125,364,389 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACAGCATGGTGACTATGTGGC -3'
(R):5'- TGAAATTCCTTGACCAATTCGG -3'

Sequencing Primer
(F):5'- GGCTGATTTTATAACACACTAATCCC -3'
(R):5'- GATAGCTGATAGACACACTTGTAAC -3'
Posted On 2016-07-06