Incidental Mutation 'R2036:Nkd1'
ID 224653
Institutional Source Beutler Lab
Gene Symbol Nkd1
Ensembl Gene ENSMUSG00000031661
Gene Name naked cuticle 1
Synonyms 2810434J10Rik, 9030215G15Rik
MMRRC Submission 040043-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.584) question?
Stock # R2036 (G1)
Quality Score 193
Status Validated
Chromosome 8
Chromosomal Location 89247982-89321512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89318305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 210 (D210G)
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: D314G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034086
Gene: ENSMUSG00000031661
AA Change: D314G

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: D210G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125935
Gene: ENSMUSG00000031661
AA Change: D210G

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: D210G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.0640 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415H17Rik C T 11: 99,576,358 (GRCm39) C3Y unknown Het
Abr G T 11: 76,343,176 (GRCm39) T547K probably benign Het
Akr1c21 T C 13: 4,626,305 (GRCm39) Y110H probably damaging Het
Ankar T A 1: 72,705,689 (GRCm39) K556* probably null Het
Anks1b T C 10: 90,805,715 (GRCm39) V431A probably damaging Het
Ap5b1 T C 19: 5,618,897 (GRCm39) S106P possibly damaging Het
Arhgap17 T C 7: 122,917,717 (GRCm39) N156D possibly damaging Het
Arhgap35 T C 7: 16,297,058 (GRCm39) E669G probably damaging Het
Arhgap44 T C 11: 64,932,318 (GRCm39) M201V possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg4c C T 4: 99,106,376 (GRCm39) T112M possibly damaging Het
Bcl11a A T 11: 24,114,087 (GRCm39) N477Y possibly damaging Het
Brinp3 A T 1: 146,577,579 (GRCm39) I205F possibly damaging Het
Capza2 T C 6: 17,660,777 (GRCm39) F159S probably damaging Het
Cd40 T C 2: 164,904,221 (GRCm39) C61R probably benign Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdh23 A G 10: 60,301,822 (GRCm39) I415T possibly damaging Het
Clnk A T 5: 38,910,143 (GRCm39) probably null Het
Ctcfl C T 2: 172,943,778 (GRCm39) R524Q possibly damaging Het
Cyb5r4 T G 9: 86,924,932 (GRCm39) probably benign Het
Ddb1 T A 19: 10,588,186 (GRCm39) probably benign Het
Ddx51 C A 5: 110,804,491 (GRCm39) Q526K probably benign Het
Dennd6a A T 14: 26,329,274 (GRCm39) Q56L probably damaging Het
Dhdds T C 4: 133,698,410 (GRCm39) E142G probably damaging Het
Dnai1 A G 4: 41,632,225 (GRCm39) H553R probably damaging Het
Fryl T C 5: 73,179,887 (GRCm39) N2908S probably benign Het
Fryl C A 5: 73,265,305 (GRCm39) probably null Het
Fut9 A G 4: 25,620,322 (GRCm39) I164T probably damaging Het
Gba2 G A 4: 43,568,118 (GRCm39) probably benign Het
Gm11627 C T 11: 102,467,580 (GRCm39) V33I unknown Het
Helz2 T A 2: 180,879,272 (GRCm39) H782L probably benign Het
Kcnmb3 A G 3: 32,526,531 (GRCm39) V220A probably damaging Het
Kif20a T C 18: 34,761,515 (GRCm39) S303P possibly damaging Het
Kif22 A T 7: 126,630,126 (GRCm39) V470E possibly damaging Het
Majin C T 19: 6,263,342 (GRCm39) T132M probably benign Het
Mboat7 A G 7: 3,688,671 (GRCm39) probably null Het
Mkrn2 C A 6: 115,588,875 (GRCm39) P206Q probably benign Het
Mphosph9 G A 5: 124,442,274 (GRCm39) T358M probably damaging Het
Or4c110 C T 2: 88,831,976 (GRCm39) V219I probably damaging Het
Or4k41 T A 2: 111,279,971 (GRCm39) L162Q possibly damaging Het
Or5ae2 G T 7: 84,505,566 (GRCm39) probably benign Het
Or5b95 G C 19: 12,658,165 (GRCm39) G231A probably damaging Het
Or5p69 T A 7: 107,966,947 (GRCm39) N83K probably benign Het
Or6c35 G A 10: 129,169,541 (GRCm39) D264N probably benign Het
Or9s15 A T 1: 92,524,328 (GRCm39) E29V probably benign Het
Pi4ka A G 16: 17,120,976 (GRCm39) Y63H probably damaging Het
Plekha1 A G 7: 130,503,922 (GRCm39) R210G probably damaging Het
Ppp2r2c C T 5: 37,109,748 (GRCm39) T369I possibly damaging Het
Relch A G 1: 105,670,979 (GRCm39) D1029G probably damaging Het
Rmnd1 T C 10: 4,357,884 (GRCm39) D12G probably damaging Het
Rtn2 A G 7: 19,027,664 (GRCm39) K120E probably damaging Het
Sh3tc1 A G 5: 35,873,508 (GRCm39) S30P probably benign Het
Tln2 T C 9: 67,179,986 (GRCm39) E795G possibly damaging Het
Tmprss11d T A 5: 86,457,128 (GRCm39) Y177F probably damaging Het
Trrap C A 5: 144,765,372 (GRCm39) D2529E probably benign Het
Vmn2r58 A G 7: 41,513,417 (GRCm39) Y409H probably benign Het
Wdr72 T A 9: 74,058,876 (GRCm39) V323D probably 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
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
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'- ACATGTTTCTCCCTACAGGACTG -3'
(R):5'- TACCAGTGGAGGCTTGCTTC -3'

Sequencing Primer
(F):5'- AGGCGATGGTCCCTGGTAAC -3'
(R):5'- GCTTCTTGCACCTCTGGC -3'
Posted On 2014-08-25