Incidental Mutation 'R5032:Nckap5'
ID 391725
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 042623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5032 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125904786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 144 (F144L)
Ref Sequence ENSEMBL: ENSMUSP00000092193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000094610] [ENSMUST00000112583] [ENSMUST00000161954] [ENSMUST00000162877]
AlphaFold E9QAE1
Predicted Effect possibly damaging
Transcript: ENSMUST00000057846
AA Change: F1644L

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: F1644L

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
coiled coil region 108 186 N/A INTRINSIC
low complexity region 321 332 N/A INTRINSIC
low complexity region 755 771 N/A INTRINSIC
low complexity region 950 971 N/A INTRINSIC
low complexity region 1070 1085 N/A INTRINSIC
low complexity region 1181 1200 N/A INTRINSIC
Pfam:NCKAP5 1298 1602 1.8e-120 PFAM
low complexity region 1728 1742 N/A INTRINSIC
low complexity region 1757 1771 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094609
SMART Domains Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690

DomainStartEndE-ValueType
low complexity region 70 93 N/A INTRINSIC
Pfam:NCKAP5 113 364 3.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000094610
AA Change: F144L

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092193
Gene: ENSMUSG00000049690
AA Change: F144L

DomainStartEndE-ValueType
Pfam:NCKAP5 1 101 8.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112583
AA Change: F1776L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: F1776L

DomainStartEndE-ValueType
low complexity region 70 93 N/A INTRINSIC
coiled coil region 176 254 N/A INTRINSIC
low complexity region 301 324 N/A INTRINSIC
low complexity region 453 464 N/A INTRINSIC
low complexity region 887 903 N/A INTRINSIC
low complexity region 1082 1103 N/A INTRINSIC
low complexity region 1202 1217 N/A INTRINSIC
low complexity region 1313 1332 N/A INTRINSIC
Pfam:NCKAP5 1431 1733 5.3e-119 PFAM
low complexity region 1860 1874 N/A INTRINSIC
low complexity region 1889 1903 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161954
AA Change: F1708L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: F1708L

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
coiled coil region 108 186 N/A INTRINSIC
low complexity region 233 256 N/A INTRINSIC
low complexity region 385 396 N/A INTRINSIC
low complexity region 819 835 N/A INTRINSIC
low complexity region 1014 1035 N/A INTRINSIC
low complexity region 1134 1149 N/A INTRINSIC
low complexity region 1245 1264 N/A INTRINSIC
Pfam:NCKAP5 1362 1666 2.1e-120 PFAM
low complexity region 1792 1806 N/A INTRINSIC
low complexity region 1821 1835 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162877
SMART Domains Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690

DomainStartEndE-ValueType
Pfam:NCKAP5 9 296 6e-36 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
Validation Efficiency 97% (77/79)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Actl9 A G 17: 33,653,062 (GRCm39) N374S probably benign Het
Adam34l T C 8: 44,079,508 (GRCm39) N239D probably damaging Het
Ahcyl2 T A 6: 29,768,555 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,720,464 (GRCm39) M1501T probably benign Het
Asb17 A T 3: 153,550,175 (GRCm39) D69V probably damaging Het
Atp13a5 T C 16: 29,082,202 (GRCm39) Y877C probably damaging Het
Atrip T C 9: 108,894,271 (GRCm39) Q64R probably benign Het
Auts2 A G 5: 131,505,730 (GRCm39) probably benign Het
Cacna2d1 G T 5: 16,564,068 (GRCm39) R893L probably damaging Het
Ccdc138 C T 10: 58,409,458 (GRCm39) R596C probably damaging Het
Cd163 A G 6: 124,288,628 (GRCm39) Y353C probably damaging Het
Cdon T C 9: 35,400,330 (GRCm39) Y1015H probably damaging Het
Chsy3 T C 18: 59,312,543 (GRCm39) Y339H probably damaging Het
Cspp1 T C 1: 10,136,744 (GRCm39) W190R probably benign Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Duox1 G A 2: 122,167,798 (GRCm39) R1027H probably benign Het
Dync1h1 C T 12: 110,593,326 (GRCm39) Q1198* probably null Het
Ecel1 G A 1: 87,081,975 (GRCm39) S246L probably damaging Het
Fam228b T G 12: 4,813,042 (GRCm39) R109S probably damaging Het
Fut9 T A 4: 25,799,245 (GRCm39) probably benign Het
Gm5592 A G 7: 40,939,159 (GRCm39) R814G probably damaging Het
Gmps A G 3: 63,897,746 (GRCm39) K233E probably benign Het
Gramd1c A G 16: 43,811,026 (GRCm39) Y438H probably damaging Het
Gsdmc A T 15: 63,673,882 (GRCm39) D134E possibly damaging Het
Gxylt2 A G 6: 100,760,142 (GRCm39) I226V probably benign Het
Hc T C 2: 34,903,544 (GRCm39) I1037V probably benign Het
Hspa4 T G 11: 53,179,950 (GRCm39) R69S possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Kifc3 A G 8: 95,829,354 (GRCm39) S508P probably damaging Het
Krt7 G A 15: 101,310,428 (GRCm39) R25H probably benign Het
Lhfpl6 T A 3: 52,950,854 (GRCm39) S43T possibly damaging Het
Lrrc7 T A 3: 157,887,217 (GRCm39) K394N possibly damaging Het
Lypd4 A T 7: 24,566,240 (GRCm39) L28Q probably damaging Het
Mdc1 A G 17: 36,161,481 (GRCm39) E798G probably benign Het
Mta1 T A 12: 113,097,145 (GRCm39) probably null Het
Mtg2 A T 2: 179,725,183 (GRCm39) Q132L possibly damaging Het
Myh1 G T 11: 67,096,874 (GRCm39) E382* probably null Het
Myo3a T C 2: 22,287,413 (GRCm39) L175P probably damaging Het
Nfrkb T A 9: 31,300,351 (GRCm39) probably null Het
Nmt2 C T 2: 3,285,429 (GRCm39) P5L probably benign Het
Nsmf T C 2: 24,945,073 (GRCm39) probably null Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or51q1 A T 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or5a1 T A 19: 12,097,420 (GRCm39) I219F probably benign Het
Pcdhgc3 T A 18: 37,940,638 (GRCm39) N346K probably damaging Het
Pcnt G A 10: 76,190,911 (GRCm39) P2791S probably benign Het
Pdia3 A G 2: 121,244,620 (GRCm39) N11S probably benign Het
Pik3c2g A T 6: 139,841,928 (GRCm39) T778S probably benign Het
Pik3ip1 T A 11: 3,283,520 (GRCm39) I75N probably damaging Het
Pla2g4d A T 2: 120,112,176 (GRCm39) Y118* probably null Het
Ppargc1b A G 18: 61,440,336 (GRCm39) S845P probably damaging Het
Prdm2 A T 4: 142,905,937 (GRCm39) L50* probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,053,140 (GRCm39) V926I probably benign Het
Rab11fip2 A T 19: 59,925,799 (GRCm39) N139K probably damaging Het
Rcn2 T A 9: 55,960,300 (GRCm39) M189K probably damaging Het
Rev1 A T 1: 38,113,570 (GRCm39) probably benign Het
Rhbg C A 3: 88,152,441 (GRCm39) G368C probably damaging Het
Rnf214 A G 9: 45,811,042 (GRCm39) probably null Het
Sf3a3 T C 4: 124,618,959 (GRCm39) S307P probably benign Het
Slc6a18 T A 13: 73,814,442 (GRCm39) Y494F probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag16 T G 1: 69,892,511 (GRCm39) N97K probably benign Het
Tmem192 T C 8: 65,412,163 (GRCm39) V114A possibly damaging Het
Urb1 G T 16: 90,553,059 (GRCm39) P1901T probably benign Het
Vwa5b2 A G 16: 20,419,459 (GRCm39) T601A probably damaging Het
Wdtc1 G T 4: 133,036,162 (GRCm39) T126K possibly damaging Het
Xirp2 T C 2: 67,356,014 (GRCm39) Y3592H possibly damaging Het
Xylt2 A T 11: 94,560,842 (GRCm39) V232E probably damaging Het
Other mutations in Nckap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Nckap5 APN 1 125,954,889 (GRCm39) missense probably damaging 0.99
IGL00956:Nckap5 APN 1 125,952,755 (GRCm39) missense probably damaging 0.98
IGL01414:Nckap5 APN 1 126,456,450 (GRCm39) missense probably damaging 1.00
IGL01482:Nckap5 APN 1 125,950,897 (GRCm39) missense probably damaging 1.00
IGL01508:Nckap5 APN 1 125,953,309 (GRCm39) missense probably damaging 0.96
IGL02071:Nckap5 APN 1 125,909,305 (GRCm39) missense probably damaging 0.97
IGL02129:Nckap5 APN 1 125,955,432 (GRCm39) nonsense probably null
IGL02821:Nckap5 APN 1 125,955,553 (GRCm39) missense probably damaging 1.00
IGL03174:Nckap5 APN 1 125,909,383 (GRCm39) missense probably damaging 1.00
F5493:Nckap5 UTSW 1 125,953,564 (GRCm39) missense probably benign
G5030:Nckap5 UTSW 1 125,953,591 (GRCm39) missense probably damaging 0.96
R0033:Nckap5 UTSW 1 125,867,979 (GRCm39) intron probably benign
R0164:Nckap5 UTSW 1 125,952,144 (GRCm39) missense possibly damaging 0.84
R0164:Nckap5 UTSW 1 125,952,144 (GRCm39) missense possibly damaging 0.84
R0349:Nckap5 UTSW 1 125,954,171 (GRCm39) missense probably benign
R0482:Nckap5 UTSW 1 125,954,102 (GRCm39) missense possibly damaging 0.92
R0508:Nckap5 UTSW 1 125,909,121 (GRCm39) splice site probably null
R0541:Nckap5 UTSW 1 126,623,459 (GRCm39) missense possibly damaging 0.82
R0609:Nckap5 UTSW 1 125,955,025 (GRCm39) nonsense probably null
R0701:Nckap5 UTSW 1 125,953,094 (GRCm39) missense probably benign 0.06
R0782:Nckap5 UTSW 1 125,909,278 (GRCm39) missense probably damaging 1.00
R1389:Nckap5 UTSW 1 125,954,447 (GRCm39) missense probably damaging 0.99
R1401:Nckap5 UTSW 1 125,942,398 (GRCm39) splice site probably benign
R1436:Nckap5 UTSW 1 125,953,798 (GRCm39) missense possibly damaging 0.96
R1506:Nckap5 UTSW 1 125,953,650 (GRCm39) nonsense probably null
R1528:Nckap5 UTSW 1 125,952,659 (GRCm39) missense possibly damaging 0.68
R1942:Nckap5 UTSW 1 125,952,039 (GRCm39) missense probably damaging 1.00
R1968:Nckap5 UTSW 1 125,942,367 (GRCm39) missense probably damaging 0.99
R2055:Nckap5 UTSW 1 125,954,635 (GRCm39) missense probably damaging 1.00
R2105:Nckap5 UTSW 1 125,954,255 (GRCm39) missense probably damaging 1.00
R2214:Nckap5 UTSW 1 125,953,487 (GRCm39) missense possibly damaging 0.77
R2311:Nckap5 UTSW 1 126,456,489 (GRCm39) missense probably damaging 1.00
R2403:Nckap5 UTSW 1 125,955,146 (GRCm39) missense probably benign 0.18
R2430:Nckap5 UTSW 1 125,842,494 (GRCm39) missense probably damaging 0.99
R2914:Nckap5 UTSW 1 125,954,274 (GRCm39) splice site probably null
R3782:Nckap5 UTSW 1 125,952,811 (GRCm39) missense possibly damaging 0.93
R4133:Nckap5 UTSW 1 126,150,443 (GRCm39) missense probably benign 0.13
R4249:Nckap5 UTSW 1 125,955,376 (GRCm39) missense probably benign 0.01
R4448:Nckap5 UTSW 1 125,953,463 (GRCm39) nonsense probably null
R4456:Nckap5 UTSW 1 125,842,472 (GRCm39) unclassified probably benign
R4682:Nckap5 UTSW 1 126,030,279 (GRCm39) critical splice donor site probably null
R4817:Nckap5 UTSW 1 125,954,952 (GRCm39) missense possibly damaging 0.68
R4907:Nckap5 UTSW 1 125,953,889 (GRCm39) missense possibly damaging 0.92
R4908:Nckap5 UTSW 1 125,955,324 (GRCm39) missense probably damaging 1.00
R4924:Nckap5 UTSW 1 125,954,765 (GRCm39) nonsense probably null
R4926:Nckap5 UTSW 1 126,456,378 (GRCm39) intron probably benign
R5133:Nckap5 UTSW 1 125,961,697 (GRCm39) missense probably benign 0.01
R5197:Nckap5 UTSW 1 126,150,410 (GRCm39) missense possibly damaging 0.79
R5238:Nckap5 UTSW 1 125,955,461 (GRCm39) missense probably damaging 0.96
R5257:Nckap5 UTSW 1 125,952,245 (GRCm39) missense probably damaging 0.99
R5277:Nckap5 UTSW 1 125,954,277 (GRCm39) nonsense probably null
R5512:Nckap5 UTSW 1 125,955,481 (GRCm39) missense possibly damaging 0.63
R5700:Nckap5 UTSW 1 125,904,662 (GRCm39) critical splice donor site probably null
R5789:Nckap5 UTSW 1 125,955,439 (GRCm39) missense probably damaging 1.00
R6029:Nckap5 UTSW 1 125,953,523 (GRCm39) missense possibly damaging 0.89
R6249:Nckap5 UTSW 1 125,952,667 (GRCm39) missense probably benign
R6292:Nckap5 UTSW 1 125,842,752 (GRCm39) missense probably damaging 0.99
R6521:Nckap5 UTSW 1 126,309,909 (GRCm39) missense probably damaging 1.00
R6875:Nckap5 UTSW 1 125,950,931 (GRCm39) missense probably benign 0.03
R7017:Nckap5 UTSW 1 126,030,398 (GRCm39) missense probably damaging 1.00
R7018:Nckap5 UTSW 1 125,952,785 (GRCm39) missense probably damaging 0.99
R7054:Nckap5 UTSW 1 126,186,449 (GRCm39) splice site probably null
R7204:Nckap5 UTSW 1 125,954,104 (GRCm39) missense probably benign
R7336:Nckap5 UTSW 1 125,953,786 (GRCm39) missense probably benign 0.00
R7544:Nckap5 UTSW 1 125,953,948 (GRCm39) missense possibly damaging 0.92
R7590:Nckap5 UTSW 1 125,954,270 (GRCm39) missense probably benign 0.00
R7684:Nckap5 UTSW 1 125,954,594 (GRCm39) missense probably benign 0.00
R7749:Nckap5 UTSW 1 125,952,383 (GRCm39) missense probably damaging 1.00
R7773:Nckap5 UTSW 1 125,954,581 (GRCm39) missense probably benign 0.00
R7813:Nckap5 UTSW 1 125,953,163 (GRCm39) missense probably benign 0.10
R7970:Nckap5 UTSW 1 125,952,758 (GRCm39) nonsense probably null
R7992:Nckap5 UTSW 1 125,954,547 (GRCm39) missense probably damaging 0.99
R8278:Nckap5 UTSW 1 125,955,509 (GRCm39) missense probably damaging 1.00
R8373:Nckap5 UTSW 1 125,954,032 (GRCm39) missense probably benign 0.02
R8414:Nckap5 UTSW 1 125,942,357 (GRCm39) missense probably damaging 1.00
R8755:Nckap5 UTSW 1 125,954,279 (GRCm39) missense possibly damaging 0.89
R8845:Nckap5 UTSW 1 125,909,423 (GRCm39) missense possibly damaging 0.80
R9016:Nckap5 UTSW 1 126,623,491 (GRCm39) start codon destroyed probably null 0.01
R9209:Nckap5 UTSW 1 125,867,928 (GRCm39) missense unknown
R9214:Nckap5 UTSW 1 125,942,376 (GRCm39) missense probably benign 0.01
R9300:Nckap5 UTSW 1 125,909,423 (GRCm39) nonsense probably null
R9464:Nckap5 UTSW 1 125,952,494 (GRCm39) missense probably benign 0.00
R9572:Nckap5 UTSW 1 125,955,454 (GRCm39) missense probably benign 0.41
R9721:Nckap5 UTSW 1 125,955,017 (GRCm39) missense probably damaging 0.98
R9748:Nckap5 UTSW 1 125,953,939 (GRCm39) missense probably damaging 1.00
Z1088:Nckap5 UTSW 1 125,952,569 (GRCm39) missense possibly damaging 0.76
Z1176:Nckap5 UTSW 1 126,456,418 (GRCm39) critical splice donor site probably null
Z1177:Nckap5 UTSW 1 126,150,396 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCTCAGACTTTGCAATCAGG -3'
(R):5'- AAATATTTGGGCAACTCAGGCTC -3'

Sequencing Primer
(F):5'- GACTTTGCAATCAGGACAGAC -3'
(R):5'- AGGATGTCAGGTGACCCAACTTTC -3'
Posted On 2016-06-06