Incidental Mutation 'IGL01140:Nkpd1'
ID51650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkpd1
Ensembl Gene ENSMUSG00000060621
Gene NameNTPase, KAP family P-loop domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01140
Quality Score
Status
Chromosome7
Chromosomal Location19517838-19525056 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19523462 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 389 (T389A)
Ref Sequence ENSEMBL: ENSMUSP00000147092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078908] [ENSMUST00000207576] [ENSMUST00000214205]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078908
AA Change: T389A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: T389A

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 possibly damaging
Transcript: ENSMUST00000207576
AA Change: T389A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000214205
AA Change: T239A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,524,867 E187G probably damaging Het
Asap2 T C 12: 21,206,316 V205A probably damaging Het
Atg16l1 A G 1: 87,774,853 I279V probably benign Het
Atp2b2 C T 6: 113,789,971 V436I possibly damaging Het
Cald1 T A 6: 34,762,261 S640T possibly damaging Het
Cdc23 A G 18: 34,636,332 Y460H probably benign Het
Cenpk T A 13: 104,236,234 probably benign Het
Ctss A G 3: 95,538,725 E52G probably damaging Het
Cuzd1 A T 7: 131,311,794 C365S probably damaging Het
Cyp2c55 T C 19: 39,018,649 L163P probably benign Het
Cyp4f37 T C 17: 32,629,053 S182P probably benign Het
Flt4 G T 11: 49,634,943 E740* probably null Het
Galntl6 T A 8: 57,958,322 R291S probably damaging Het
Hydin G A 8: 110,398,062 V568I probably benign Het
Kcnab3 A G 11: 69,329,879 K145R probably benign Het
Lama1 T C 17: 67,802,933 V2183A probably benign Het
Lrmda C T 14: 22,596,517 A75V possibly damaging Het
Mbtd1 A G 11: 93,924,432 E282G probably damaging Het
Muc19 A T 15: 91,899,399 noncoding transcript Het
Mug1 A G 6: 121,882,734 T1231A probably benign Het
Nudt19 A G 7: 35,547,911 *358Q probably null Het
Nup160 G T 2: 90,700,565 M522I possibly damaging Het
Obsl1 T A 1: 75,489,756 probably benign Het
Olfr1475 G A 19: 13,479,787 T137I possibly damaging Het
Olfr734 T A 14: 50,320,275 I187F probably damaging Het
Olfr994 T C 2: 85,430,140 T230A probably benign Het
Osbpl10 C T 9: 115,176,002 P341S probably benign Het
Papola C A 12: 105,809,597 C7* probably null Het
Pld1 C A 3: 28,078,237 L525I probably benign Het
Prom2 T C 2: 127,531,205 probably benign Het
Psmb5 G A 14: 54,617,807 T62I possibly damaging Het
Sag A G 1: 87,823,364 E184G probably benign Het
Slc16a10 T C 10: 40,076,925 Y191C probably damaging Het
Slc22a22 T C 15: 57,263,338 T93A probably damaging Het
Ssx2ip A G 3: 146,427,843 Y231C probably benign Het
Trib1 A G 15: 59,651,627 Y170C probably damaging Het
Trmt10a G A 3: 138,156,698 probably benign Het
Troap G T 15: 99,082,146 Q402H probably damaging Het
Ttc30a1 A G 2: 75,979,915 V608A probably benign Het
Vmn2r70 G A 7: 85,565,171 Q258* probably null Het
Zfp128 A G 7: 12,891,022 Y439C probably benign Het
Zmym1 A G 4: 127,049,642 F318L probably damaging Het
Zswim2 A G 2: 83,915,328 S589P probably benign Het
Other mutations in Nkpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Nkpd1 APN 7 19518749 missense possibly damaging 0.71
IGL01450:Nkpd1 APN 7 19523625 missense probably damaging 1.00
R0003:Nkpd1 UTSW 7 19519927 missense probably benign
R0626:Nkpd1 UTSW 7 19523174 missense probably benign 0.02
R1171:Nkpd1 UTSW 7 19524087 missense possibly damaging 0.94
R1637:Nkpd1 UTSW 7 19523979 missense probably benign 0.00
R1722:Nkpd1 UTSW 7 19523921 missense possibly damaging 0.84
R1823:Nkpd1 UTSW 7 19523252 missense probably damaging 1.00
R2141:Nkpd1 UTSW 7 19524237 missense probably damaging 0.99
R2224:Nkpd1 UTSW 7 19519820 missense probably benign 0.00
R2225:Nkpd1 UTSW 7 19519820 missense probably benign 0.00
R2226:Nkpd1 UTSW 7 19519820 missense probably benign 0.00
R2274:Nkpd1 UTSW 7 19523897 missense probably benign 0.01
R2275:Nkpd1 UTSW 7 19523897 missense probably benign 0.01
R2374:Nkpd1 UTSW 7 19523975 missense possibly damaging 0.50
R3108:Nkpd1 UTSW 7 19522978 missense probably damaging 0.98
R4940:Nkpd1 UTSW 7 19523573 nonsense probably null
R5182:Nkpd1 UTSW 7 19523256 missense probably damaging 1.00
R5362:Nkpd1 UTSW 7 19523268 missense probably damaging 1.00
R5458:Nkpd1 UTSW 7 19524276 missense probably damaging 1.00
R5681:Nkpd1 UTSW 7 19523573 nonsense probably null
R5684:Nkpd1 UTSW 7 19523573 nonsense probably null
R5685:Nkpd1 UTSW 7 19523573 nonsense probably null
R6177:Nkpd1 UTSW 7 19523084 missense probably damaging 1.00
R6200:Nkpd1 UTSW 7 19524603 missense possibly damaging 0.55
R7348:Nkpd1 UTSW 7 19524416 missense probably damaging 0.99
R7356:Nkpd1 UTSW 7 19523774 missense probably damaging 1.00
R8239:Nkpd1 UTSW 7 19519828 missense probably benign
R8791:Nkpd1 UTSW 7 19524170 missense probably benign 0.08
R8936:Nkpd1 UTSW 7 19521950 missense probably damaging 0.98
Z1177:Nkpd1 UTSW 7 19523777 missense probably damaging 1.00
Z1177:Nkpd1 UTSW 7 19523952 missense probably damaging 1.00
Posted On2013-06-21