Incidental Mutation 'IGL03182:Nkapd1'
ID 412279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkapd1
Ensembl Gene ENSMUSG00000059820
Gene Name NKAP domain containing 1
Synonyms LOC270156, AU019823
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # IGL03182
Quality Score
Status
Chromosome 9
Chromosomal Location 50516542-50528567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50523698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 50 (N50S)
Ref Sequence ENSEMBL: ENSMUSP00000133259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000171462] [ENSMUST00000155435] [ENSMUST00000151197]
AlphaFold E9PUQ3
Predicted Effect probably benign
Transcript: ENSMUST00000000171
SMART Domains Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 314 4.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124029
Predicted Effect possibly damaging
Transcript: ENSMUST00000131351
AA Change: N50S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132187
SMART Domains Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 92 1.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145139
AA Change: N50S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000147671
AA Change: N50S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171462
AA Change: N50S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155435
AA Change: N50S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151197
SMART Domains Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 235 1.7e-51 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,780,435 (GRCm39) K469N probably damaging Het
Aldh2 A G 5: 121,718,787 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,619,580 (GRCm39) probably benign Het
Ankhd1 C T 18: 36,711,827 (GRCm39) T209I probably benign Het
Aox3 G A 1: 58,205,046 (GRCm39) V754I probably benign Het
Arfgef3 C T 10: 18,476,292 (GRCm39) R1509H probably damaging Het
Ccdc157 A G 11: 4,101,832 (GRCm39) S30P probably damaging Het
Cept1 T A 3: 106,411,866 (GRCm39) E369D probably damaging Het
Clcnka T C 4: 141,121,798 (GRCm39) Y236C probably damaging Het
Ddx42 A T 11: 106,138,353 (GRCm39) L717F probably benign Het
Dnah11 A T 12: 117,994,026 (GRCm39) I2340N probably damaging Het
Dsel T C 1: 111,787,868 (GRCm39) E889G probably damaging Het
Fasn T C 11: 120,703,552 (GRCm39) Y1560C probably damaging Het
Fermt2 A T 14: 45,699,225 (GRCm39) M623K possibly damaging Het
Gm21970 T A 16: 91,190,726 (GRCm39) S110T possibly damaging Het
Gm826 T A 2: 160,169,035 (GRCm39) R91S unknown Het
Lrrn3 A G 12: 41,504,020 (GRCm39) L99S probably damaging Het
Megf8 T A 7: 25,046,773 (GRCm39) M1552K possibly damaging Het
Mgll G T 6: 88,800,173 (GRCm39) V191F probably damaging Het
Nol8 C A 13: 49,817,557 (GRCm39) H778N probably damaging Het
Or1e26 T A 11: 73,480,268 (GRCm39) T99S probably benign Het
Or5b116 A C 19: 13,422,807 (GRCm39) T144P possibly damaging Het
Or8g30 A T 9: 39,230,277 (GRCm39) M211K probably benign Het
Or8k40 A T 2: 86,584,366 (GRCm39) S239T probably damaging Het
Pfkfb3 A T 2: 11,506,474 (GRCm39) I13N probably damaging Het
Pim1 T A 17: 29,710,740 (GRCm39) D114E possibly damaging Het
Pkd1 T C 17: 24,792,792 (GRCm39) L1493P probably damaging Het
Plb1 A T 5: 32,502,259 (GRCm39) probably benign Het
Plch1 A T 3: 63,610,015 (GRCm39) Y872* probably null Het
Rictor A G 15: 6,819,079 (GRCm39) D1434G probably benign Het
Rptor G A 11: 119,615,971 (GRCm39) G162R probably damaging Het
Serping1 T C 2: 84,596,162 (GRCm39) D424G probably damaging Het
Slit2 A G 5: 48,377,395 (GRCm39) I475V possibly damaging Het
Snx31 G T 15: 36,525,833 (GRCm39) Q289K probably benign Het
Tbc1d13 G A 2: 30,037,379 (GRCm39) A254T probably damaging Het
Tek T C 4: 94,740,002 (GRCm39) I750T probably damaging Het
Tet2 A T 3: 133,177,159 (GRCm39) L1296* probably null Het
Tmem145 T A 7: 25,014,304 (GRCm39) F459I probably damaging Het
Uba5 A T 9: 103,931,328 (GRCm39) V247D possibly damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Zfp609 A G 9: 65,608,287 (GRCm39) S1198P probably benign Het
Other mutations in Nkapd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02879:Nkapd1 APN 9 50,520,671 (GRCm39) critical splice donor site probably null
R0021:Nkapd1 UTSW 9 50,521,725 (GRCm39) missense probably damaging 0.96
R0021:Nkapd1 UTSW 9 50,521,725 (GRCm39) missense probably damaging 0.96
R0280:Nkapd1 UTSW 9 50,520,679 (GRCm39) missense probably damaging 1.00
R0304:Nkapd1 UTSW 9 50,519,222 (GRCm39) missense probably damaging 0.99
R1438:Nkapd1 UTSW 9 50,518,972 (GRCm39) missense possibly damaging 0.72
R1613:Nkapd1 UTSW 9 50,519,105 (GRCm39) missense probably damaging 1.00
R4941:Nkapd1 UTSW 9 50,518,809 (GRCm39) missense probably benign 0.00
R5983:Nkapd1 UTSW 9 50,519,142 (GRCm39) missense probably damaging 0.96
R6226:Nkapd1 UTSW 9 50,519,070 (GRCm39) missense possibly damaging 0.53
R6228:Nkapd1 UTSW 9 50,518,971 (GRCm39) missense possibly damaging 0.73
R6318:Nkapd1 UTSW 9 50,518,761 (GRCm39) missense probably benign 0.00
R6923:Nkapd1 UTSW 9 50,521,610 (GRCm39) missense probably benign
R7841:Nkapd1 UTSW 9 50,521,716 (GRCm39) missense probably damaging 0.98
R8325:Nkapd1 UTSW 9 50,521,608 (GRCm39) missense probably benign
Posted On 2016-08-02