Incidental Mutation 'R8239:Nkpd1'
ID 637502
Institutional Source Beutler Lab
Gene Symbol Nkpd1
Ensembl Gene ENSMUSG00000060621
Gene Name NTPase, KAP family P-loop domain containing 1
Synonyms 2310015G09Rik
MMRRC Submission 067646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8239 (G1)
Quality Score 108.008
Status Not validated
Chromosome 7
Chromosomal Location 19251763-19258981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19253753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 40 (P40S)
Ref Sequence ENSEMBL: ENSMUSP00000077943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002112] [ENSMUST00000078908] [ENSMUST00000108455] [ENSMUST00000135972] [ENSMUST00000136873] [ENSMUST00000147114] [ENSMUST00000207576]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002112
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 6 159 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078908
AA Change: P40S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: P40S

DomainStartEndE-ValueType
low complexity region 71 103 N/A INTRINSIC
low complexity region 129 158 N/A INTRINSIC
Pfam:KAP_NTPase 186 642 5.7e-29 PFAM
low complexity region 771 780 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108455
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 7 157 8.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135972
SMART Domains Protein: ENSMUSP00000120406
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 1 42 7e-11 PFAM
Pfam:TRAPP 38 81 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136873
Predicted Effect probably benign
Transcript: ENSMUST00000147114
Predicted Effect probably benign
Transcript: ENSMUST00000207576
AA Change: P40S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,106 (GRCm39) S166P probably damaging Het
Appl1 T A 14: 26,686,914 (GRCm39) T19S probably damaging Het
Arid4b T A 13: 14,344,594 (GRCm39) D557E probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
C2cd2l T C 9: 44,227,502 (GRCm39) E307G possibly damaging Het
Cdh20 A C 1: 110,027,832 (GRCm39) T526P probably benign Het
Dchs1 C T 7: 105,414,718 (GRCm39) V775M probably benign Het
Dennd1b A G 1: 138,969,673 (GRCm39) N63S probably benign Het
Dtnb A T 12: 3,694,056 (GRCm39) Y248F unknown Het
Ehbp1l1 T A 19: 5,770,089 (GRCm39) T405S possibly damaging Het
Fam149a A G 8: 45,803,490 (GRCm39) Y415H possibly damaging Het
Fam186a A G 15: 99,839,191 (GRCm39) L2351P unknown Het
Fsip2 T G 2: 82,819,687 (GRCm39) I5140S possibly damaging Het
Gm8674 T C 13: 50,054,262 (GRCm39) T749A noncoding transcript Het
Kalrn A G 16: 33,870,153 (GRCm39) V1894A noncoding transcript Het
Kpna3 A T 14: 61,624,919 (GRCm39) N141K probably damaging Het
Lrba G A 3: 86,449,882 (GRCm39) G2067D probably damaging Het
Lrp2 G T 2: 69,311,611 (GRCm39) Y2622* probably null Het
Lrtm2 A C 6: 119,297,778 (GRCm39) F88V probably damaging Het
Mboat1 T C 13: 30,429,333 (GRCm39) S454P probably damaging Het
Or2b7 T C 13: 21,739,788 (GRCm39) I135V probably benign Het
Or4a76 T A 2: 89,460,907 (GRCm39) I112F probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Or8k27 C A 2: 86,275,473 (GRCm39) M284I noncoding transcript Het
Patj A G 4: 98,570,308 (GRCm39) E1711G possibly damaging Het
Pcdha4 A T 18: 37,086,128 (GRCm39) I104F probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plekhg4 C T 8: 106,107,546 (GRCm39) R990* probably null Het
Pphln1 T C 15: 93,386,930 (GRCm39) S343P probably benign Het
Pram1 A T 17: 33,860,241 (GRCm39) K269N probably damaging Het
Psmd13 T A 7: 140,466,450 (GRCm39) I79K probably damaging Het
Ptprf T C 4: 118,069,309 (GRCm39) D1586G possibly damaging Het
Ptprh T A 7: 4,584,090 (GRCm39) Q167H probably damaging Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rreb1 T C 13: 38,077,848 (GRCm39) M20T probably damaging Het
Scrn2 T G 11: 96,923,046 (GRCm39) L163R probably damaging Het
Slc36a3 C T 11: 55,022,433 (GRCm39) V254I probably benign Het
Slc6a6 T C 6: 91,701,951 (GRCm39) F120L probably benign Het
Slc8a2 A T 7: 15,879,230 (GRCm39) H572L probably benign Het
Spats2 T A 15: 99,106,776 (GRCm39) D357E probably damaging Het
Speg A T 1: 75,395,677 (GRCm39) N1816I probably damaging Het
Sult2b1 A G 7: 45,433,361 (GRCm39) V2A unknown Het
Susd3 T C 13: 49,384,731 (GRCm39) T231A probably benign Het
Tamalin C T 15: 101,128,902 (GRCm39) L217F probably damaging Het
Tcp1 A G 17: 13,139,738 (GRCm39) D261G probably benign Het
Trpm2 C G 10: 77,771,836 (GRCm39) S601T probably benign Het
Ugt2b38 A T 5: 87,571,659 (GRCm39) F124L probably benign Het
Unc80 G T 1: 66,693,178 (GRCm39) E2522D probably benign Het
Usp34 A G 11: 23,396,750 (GRCm39) T2365A Het
Vmn2r92 G T 17: 18,405,278 (GRCm39) M807I probably benign Het
Vps13b C A 15: 35,597,550 (GRCm39) P1030Q probably damaging Het
Wrn T G 8: 33,819,213 (GRCm39) K246N probably damaging Het
Zer1 T A 2: 29,991,147 (GRCm39) probably null Het
Other mutations in Nkpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Nkpd1 APN 7 19,252,674 (GRCm39) missense possibly damaging 0.71
IGL01140:Nkpd1 APN 7 19,257,387 (GRCm39) missense possibly damaging 0.72
IGL01450:Nkpd1 APN 7 19,257,550 (GRCm39) missense probably damaging 1.00
R0003:Nkpd1 UTSW 7 19,253,852 (GRCm39) missense probably benign
R0626:Nkpd1 UTSW 7 19,257,099 (GRCm39) missense probably benign 0.02
R1171:Nkpd1 UTSW 7 19,258,012 (GRCm39) missense possibly damaging 0.94
R1637:Nkpd1 UTSW 7 19,257,904 (GRCm39) missense probably benign 0.00
R1722:Nkpd1 UTSW 7 19,257,846 (GRCm39) missense possibly damaging 0.84
R1823:Nkpd1 UTSW 7 19,257,177 (GRCm39) missense probably damaging 1.00
R2141:Nkpd1 UTSW 7 19,258,162 (GRCm39) missense probably damaging 0.99
R2224:Nkpd1 UTSW 7 19,253,745 (GRCm39) missense probably benign 0.00
R2225:Nkpd1 UTSW 7 19,253,745 (GRCm39) missense probably benign 0.00
R2226:Nkpd1 UTSW 7 19,253,745 (GRCm39) missense probably benign 0.00
R2274:Nkpd1 UTSW 7 19,257,822 (GRCm39) missense probably benign 0.01
R2275:Nkpd1 UTSW 7 19,257,822 (GRCm39) missense probably benign 0.01
R2374:Nkpd1 UTSW 7 19,257,900 (GRCm39) missense possibly damaging 0.50
R3108:Nkpd1 UTSW 7 19,256,903 (GRCm39) missense probably damaging 0.98
R4940:Nkpd1 UTSW 7 19,257,498 (GRCm39) nonsense probably null
R5182:Nkpd1 UTSW 7 19,257,181 (GRCm39) missense probably damaging 1.00
R5362:Nkpd1 UTSW 7 19,257,193 (GRCm39) missense probably damaging 1.00
R5458:Nkpd1 UTSW 7 19,258,201 (GRCm39) missense probably damaging 1.00
R5681:Nkpd1 UTSW 7 19,257,498 (GRCm39) nonsense probably null
R5684:Nkpd1 UTSW 7 19,257,498 (GRCm39) nonsense probably null
R5685:Nkpd1 UTSW 7 19,257,498 (GRCm39) nonsense probably null
R6177:Nkpd1 UTSW 7 19,257,009 (GRCm39) missense probably damaging 1.00
R6200:Nkpd1 UTSW 7 19,258,528 (GRCm39) missense possibly damaging 0.55
R7348:Nkpd1 UTSW 7 19,258,341 (GRCm39) missense probably damaging 0.99
R7356:Nkpd1 UTSW 7 19,257,699 (GRCm39) missense probably damaging 1.00
R8791:Nkpd1 UTSW 7 19,258,095 (GRCm39) missense probably benign 0.08
R8936:Nkpd1 UTSW 7 19,255,875 (GRCm39) missense probably damaging 0.98
R9200:Nkpd1 UTSW 7 19,257,683 (GRCm39) missense probably benign 0.35
R9213:Nkpd1 UTSW 7 19,258,009 (GRCm39) missense probably damaging 1.00
R9601:Nkpd1 UTSW 7 19,257,462 (GRCm39) missense probably damaging 1.00
R9609:Nkpd1 UTSW 7 19,257,462 (GRCm39) missense possibly damaging 0.68
R9622:Nkpd1 UTSW 7 19,257,867 (GRCm39) missense probably benign 0.00
Z1177:Nkpd1 UTSW 7 19,257,877 (GRCm39) missense probably damaging 1.00
Z1177:Nkpd1 UTSW 7 19,257,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACCCTGTGTGTTCTGCCC -3'
(R):5'- TAGTTGAGGCAGAGACCCAG -3'

Sequencing Primer
(F):5'- CCCTTGGGTCCTTTGAGC -3'
(R):5'- AAGGCCTCAGCTGAGCAC -3'
Posted On 2020-07-13