Incidental Mutation 'R0350:Nkd1'
ID 29656
Institutional Source Beutler Lab
Gene Symbol Nkd1
Ensembl Gene ENSMUSG00000031661
Gene Name naked cuticle 1
Synonyms 2810434J10Rik, 9030215G15Rik
MMRRC Submission 038557-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.584) question?
Stock # R0350 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 89247982-89321512 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 89311844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 39 (Y39*)
Ref Sequence ENSEMBL: ENSMUSP00000147347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034086] [ENSMUST00000169179] [ENSMUST00000211113]
AlphaFold Q99MH6
Predicted Effect probably null
Transcript: ENSMUST00000034086
AA Change: Y143*
SMART Domains Protein: ENSMUSP00000034086
Gene: ENSMUSG00000031661
AA Change: Y143*

DomainStartEndE-ValueType
SCOP:d2pvba_ 121 164 1e-3 SMART
low complexity region 379 397 N/A INTRINSIC
low complexity region 453 467 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169179
AA Change: Y39*
SMART Domains Protein: ENSMUSP00000125935
Gene: ENSMUSG00000031661
AA Change: Y39*

DomainStartEndE-ValueType
SCOP:d2pvba_ 17 60 5e-4 SMART
low complexity region 275 293 N/A INTRINSIC
low complexity region 349 363 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000211113
AA Change: Y39*
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]
PHENOTYPE: Homozygous null mice display reduced male fertility with oligozoospermia, small testis, and small seminiferous tubules. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,037,600 (GRCm39) Y66N probably damaging Het
Apol6 C T 15: 76,935,147 (GRCm39) Q139* probably null Het
Armh1 C A 4: 117,072,753 (GRCm39) E244* probably null Het
Cd1d1 A T 3: 86,904,880 (GRCm39) H219Q probably benign Het
Cdca2 A G 14: 67,950,568 (GRCm39) L121P probably benign Het
Cdin1 T C 2: 115,607,411 (GRCm39) Y255H possibly damaging Het
Cog4 T A 8: 111,580,328 (GRCm39) L133I possibly damaging Het
Csf1 T C 3: 107,655,922 (GRCm39) M370V probably benign Het
Ddi2 G A 4: 141,412,834 (GRCm39) T26M probably benign Het
Dhcr7 A G 7: 143,391,507 (GRCm39) D32G probably damaging Het
Efcab3 T C 11: 104,581,706 (GRCm39) V16A probably benign Het
Exd1 T C 2: 119,354,047 (GRCm39) N337S possibly damaging Het
Flii T C 11: 60,612,683 (GRCm39) D227G probably damaging Het
Hsf1 A G 15: 76,384,679 (GRCm39) T485A probably benign Het
Igfn1 G A 1: 135,884,505 (GRCm39) R2614* probably null Het
Iqch T C 9: 63,408,158 (GRCm39) T630A probably benign Het
Itgal T A 7: 126,921,253 (GRCm39) D770E probably damaging Het
Mroh1 T A 15: 76,316,449 (GRCm39) V759E probably damaging Het
Mrps17 A G 5: 129,795,209 (GRCm39) probably benign Het
Mtpap A G 18: 4,396,195 (GRCm39) S496G possibly damaging Het
Nmd3 A G 3: 69,650,907 (GRCm39) Y359C probably damaging Het
Nr1h3 G A 2: 91,022,170 (GRCm39) L153F possibly damaging Het
Nuf2 T A 1: 169,341,112 (GRCm39) probably null Het
Or4b1b T C 2: 90,112,926 (GRCm39) probably null Het
Or4c113 T A 2: 88,885,700 (GRCm39) K23N probably benign Het
Or8b12i A T 9: 20,082,032 (GRCm39) Y278* probably null Het
Pnn T C 12: 59,113,903 (GRCm39) probably null Het
Ppm1j A G 3: 104,690,687 (GRCm39) D230G probably benign Het
Ppp1r15a A T 7: 45,172,442 (GRCm39) L650Q probably damaging Het
Prss37 T C 6: 40,491,893 (GRCm39) E229G probably damaging Het
Rbm19 T C 5: 120,266,372 (GRCm39) V465A possibly damaging Het
Rubcnl G T 14: 75,278,331 (GRCm39) V372F probably damaging Het
Sema6a G T 18: 47,403,785 (GRCm39) D595E probably benign Het
Slc35c1 A G 2: 92,289,377 (GRCm39) F43S probably damaging Het
Slc39a5 C T 10: 128,232,619 (GRCm39) probably null Het
Slco4c1 A G 1: 96,756,574 (GRCm39) F583L probably benign Het
Sox9 A G 11: 112,675,702 (GRCm39) Y297C probably damaging Het
Taf1b A G 12: 24,564,884 (GRCm39) D167G possibly damaging Het
Trpm6 T C 19: 18,861,321 (GRCm39) probably null Het
Uba6 A C 5: 86,292,237 (GRCm39) V402G possibly damaging Het
Usp43 T C 11: 67,767,324 (GRCm39) Y682C probably damaging Het
Vmn1r195 A G 13: 22,463,403 (GRCm39) D291G probably damaging Het
Xpr1 A T 1: 155,206,214 (GRCm39) F156Y probably damaging Het
Yju2b C T 8: 84,987,277 (GRCm39) E99K probably damaging Het
Zfp318 T A 17: 46,724,124 (GRCm39) H2042Q probably benign Het
Zfp937 T A 2: 150,081,222 (GRCm39) D417E possibly damaging Het
Other mutations in Nkd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01341:Nkd1 APN 8 89,318,180 (GRCm39) splice site probably benign
IGL01724:Nkd1 APN 8 89,248,923 (GRCm39) missense probably damaging 0.98
IGL03297:Nkd1 APN 8 89,300,902 (GRCm39) splice site probably benign
PIT4508001:Nkd1 UTSW 8 89,249,028 (GRCm39) missense probably benign 0.04
R0611:Nkd1 UTSW 8 89,248,944 (GRCm39) missense probably damaging 1.00
R1080:Nkd1 UTSW 8 89,318,647 (GRCm39) missense probably benign 0.02
R1946:Nkd1 UTSW 8 89,318,745 (GRCm39) missense probably damaging 1.00
R2036:Nkd1 UTSW 8 89,318,305 (GRCm39) missense probably damaging 0.99
R2135:Nkd1 UTSW 8 89,318,278 (GRCm39) missense probably benign 0.06
R4623:Nkd1 UTSW 8 89,316,383 (GRCm39) missense probably benign 0.35
R5254:Nkd1 UTSW 8 89,315,822 (GRCm39) missense probably damaging 1.00
R6057:Nkd1 UTSW 8 89,316,442 (GRCm39) critical splice donor site probably null
R6168:Nkd1 UTSW 8 89,311,859 (GRCm39) missense probably damaging 1.00
R7424:Nkd1 UTSW 8 89,311,803 (GRCm39) missense probably benign 0.13
R9491:Nkd1 UTSW 8 89,300,875 (GRCm39) missense probably benign 0.33
R9784:Nkd1 UTSW 8 89,318,330 (GRCm39) missense probably damaging 1.00
X0024:Nkd1 UTSW 8 89,318,763 (GRCm39) missense probably damaging 1.00
Z1177:Nkd1 UTSW 8 89,318,679 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGTCTTAGTCTCCCTTCGCCAGAG -3'
(R):5'- TTGCCAGAGCGACACATGGAGAAC -3'

Sequencing Primer
(F):5'- CTTCGCCAGAGTCAGGGATAG -3'
(R):5'- AGCCGTAGTCACTGCTTG -3'
Posted On 2013-04-24