Incidental Mutation 'R6168:Nkd1'
ID 490256
Institutional Source Beutler Lab
Gene Symbol Nkd1
Ensembl Gene ENSMUSG00000031661
Gene Name naked cuticle 1
Synonyms 2810434J10Rik, 9030215G15Rik
MMRRC Submission 044430-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R6168 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 89247982-89321512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89311859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 44 (N44K)
Ref Sequence ENSEMBL: ENSMUSP00000147347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034086] [ENSMUST00000169179] [ENSMUST00000211113]
AlphaFold Q99MH6
Predicted Effect probably damaging
Transcript: ENSMUST00000034086
AA Change: N148K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034086
Gene: ENSMUSG00000031661
AA Change: N148K

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 damaging
Transcript: ENSMUST00000169179
AA Change: N44K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125935
Gene: ENSMUSG00000031661
AA Change: N44K

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 damaging
Transcript: ENSMUST00000211113
AA Change: N44K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,571,827 (GRCm39) L568F possibly damaging Het
Adam3 A T 8: 25,171,630 (GRCm39) probably null Het
Adamts13 G T 2: 26,894,898 (GRCm39) A1069S probably benign Het
Adarb1 A G 10: 77,158,153 (GRCm39) L98P probably damaging Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Alox12b T A 11: 69,060,460 (GRCm39) I672N probably damaging Het
Ark2n A G 18: 77,761,653 (GRCm39) S220P probably damaging Het
Ash1l C T 3: 88,960,080 (GRCm39) R2271* probably null Het
Atf7ip A G 6: 136,536,817 (GRCm39) T17A probably damaging Het
Col6a5 A G 9: 105,752,986 (GRCm39) probably null Het
Crcp A G 5: 130,066,737 (GRCm39) N41S probably damaging Het
Defb15 A C 8: 22,420,069 (GRCm39) N19K possibly damaging Het
Dnah7a T A 1: 53,450,727 (GRCm39) D3901V probably damaging Het
Dnah7b A C 1: 46,329,863 (GRCm39) T3236P probably damaging Het
Dnmbp A G 19: 43,838,679 (GRCm39) S608P probably damaging Het
Efcab12 T C 6: 115,791,577 (GRCm39) K532E probably damaging Het
Fbrsl1 C T 5: 110,543,922 (GRCm39) V54M probably damaging Het
Gm14496 T A 2: 181,642,750 (GRCm39) V807E probably damaging Het
Hoxa2 A G 6: 52,140,461 (GRCm39) L175P probably damaging Het
Igkv4-58 A C 6: 69,477,281 (GRCm39) D105E probably damaging Het
Igkv8-27 A T 6: 70,148,880 (GRCm39) S91R probably benign Het
Itgax T C 7: 127,732,269 (GRCm39) V175A probably damaging Het
Kcnc2 A G 10: 112,291,661 (GRCm39) D283G probably benign Het
Lepr G A 4: 101,592,789 (GRCm39) G135R probably damaging Het
Mcf2l A G 8: 13,051,823 (GRCm39) S378G probably benign Het
Mta1 T A 12: 113,086,739 (GRCm39) D145E probably damaging Het
Notch2 A G 3: 98,052,533 (GRCm39) K2010E probably damaging Het
Nsd3 G A 8: 26,181,188 (GRCm39) G930S probably null Het
Or2w1 T G 13: 21,317,399 (GRCm39) I151M possibly damaging Het
Or6c203 A G 10: 129,010,035 (GRCm39) F285S probably damaging Het
Or8g35 A G 9: 39,381,953 (GRCm39) L23P probably damaging Het
Or8k3 T G 2: 86,058,938 (GRCm39) I126L probably damaging Het
Or8u8 T C 2: 86,012,309 (GRCm39) I49V probably damaging Het
Pde4c G A 8: 71,202,688 (GRCm39) E625K probably benign Het
Pdgfb T C 15: 79,884,587 (GRCm39) T151A probably benign Het
Pik3r5 T C 11: 68,383,501 (GRCm39) V440A probably benign Het
Piwil2 T C 14: 70,632,800 (GRCm39) T591A probably benign Het
Ppm1l A G 3: 69,456,740 (GRCm39) D219G probably damaging Het
Psmc6 T C 14: 45,581,140 (GRCm39) I312T probably damaging Het
Rasl10a T C 11: 5,008,442 (GRCm39) V46A possibly damaging Het
Rhov T C 2: 119,101,453 (GRCm39) Y51C probably damaging Het
S100a16 C T 3: 90,449,879 (GRCm39) Q121* probably null Het
Slc5a12 T C 2: 110,447,089 (GRCm39) V199A probably damaging Het
Slc6a7 A T 18: 61,134,734 (GRCm39) M447K probably benign Het
Tarbp1 A G 8: 127,175,144 (GRCm39) V764A possibly damaging Het
Vmn1r197 T C 13: 22,512,678 (GRCm39) Y200H possibly damaging Het
Vmn2r102 G A 17: 19,914,402 (GRCm39) A656T possibly damaging Het
Vmn2r49 G T 7: 9,718,713 (GRCm39) D450E probably benign Het
Wdr7 T A 18: 63,911,048 (GRCm39) N813K probably damaging Het
Yeats2 T C 16: 19,998,308 (GRCm39) S288P probably benign Het
Zfta T C 19: 7,400,305 (GRCm39) V257A probably benign Het
Zswim6 G A 13: 107,924,299 (GRCm39) noncoding transcript 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
R0350:Nkd1 UTSW 8 89,311,844 (GRCm39) nonsense probably null
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
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'- GGCTGATCATGTCTTAGTCTCC -3'
(R):5'- CAGTCTTTGTGAGGTGCCAG -3'

Sequencing Primer
(F):5'- CTTCGCCAGAGTCAGGGATAG -3'
(R):5'- TTTGTGAGGTGCCAGGACCC -3'
Posted On 2017-10-10