Incidental Mutation 'R0280:Nkapd1'
ID 37466
Institutional Source Beutler Lab
Gene Symbol Nkapd1
Ensembl Gene ENSMUSG00000059820
Gene Name NKAP domain containing 1
Synonyms LOC270156, AU019823
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # R0280 (G1)
Quality Score 209
Status Validated
Chromosome 9
Chromosomal Location 50516542-50528567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50520679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 123 (T123A)
Ref Sequence ENSEMBL: ENSMUSP00000117265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044051] [ENSMUST00000131351] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000155435] [ENSMUST00000171462]
AlphaFold E9PUQ3
Predicted Effect probably benign
Transcript: ENSMUST00000044051
SMART Domains Protein: ENSMUSP00000039335
Gene: ENSMUSG00000039016

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 14 76 5.1e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131351
AA Change: T123A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
AA Change: T123A

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 possibly damaging
Transcript: ENSMUST00000145139
AA Change: T123A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000147671
AA Change: T123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
AA Change: T123A

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155435
AA Change: T123A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
AA Change: T123A

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171462
AA Change: T123A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
AA Change: T123A

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
Meta Mutation Damage Score 0.2214 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign Het
Other mutations in Nkapd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02879:Nkapd1 APN 9 50,520,671 (GRCm39) critical splice donor site probably null
IGL03182:Nkapd1 APN 9 50,523,698 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- GGGGCATCTTGGAACACGTTTACTG -3'
(R):5'- TCTTCTGGGCTACAGGTTCTGCAC -3'

Sequencing Primer
(F):5'- cccaagctagactcaaactcc -3'
(R):5'- TTGGGGAGAGAACTTCACTGC -3'
Posted On 2013-05-23