Incidental Mutation 'R0164:Nckap5'
ID 24017
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms E030049G20Rik, LOC380609, D130011D22Rik
MMRRC Submission 038440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0164 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 125913620-126830799 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126024407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1405 (D1405E)
Ref Sequence ENSEMBL: ENSMUSP00000062229 (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: D1405E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: D1405E

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 probably benign
Transcript: ENSMUST00000094610
SMART Domains Protein: ENSMUSP00000092193
Gene: ENSMUSG00000049690

DomainStartEndE-ValueType
Pfam:NCKAP5 1 101 8.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112583
AA Change: D1537E

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: D1537E

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 noncoding transcript
Transcript: ENSMUST00000159934
Predicted Effect probably benign
Transcript: ENSMUST00000161954
AA Change: D1469E

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: D1469E

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 98% (85/87)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,295,159 (GRCm38) probably benign Het
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC 10: 95,794,578 (GRCm38) probably null Het
4930522L14Rik T C 5: 109,736,847 (GRCm38) K382E probably damaging Het
Adck1 A G 12: 88,455,510 (GRCm38) E297G probably damaging Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Aldh3a2 C T 11: 61,248,888 (GRCm38) V473I probably benign Het
Arfgef3 A T 10: 18,647,915 (GRCm38) I369K possibly damaging Het
Atl2 A G 17: 79,853,831 (GRCm38) probably benign Het
Atp1b3 T C 9: 96,338,709 (GRCm38) I178V possibly damaging Het
Axdnd1 T C 1: 156,378,386 (GRCm38) E520G possibly damaging Het
Bahcc1 A T 11: 120,285,074 (GRCm38) probably benign Het
BB019430 A T 10: 58,704,271 (GRCm38) noncoding transcript Het
BC028528 A T 3: 95,887,334 (GRCm38) probably benign Het
Btbd1 T A 7: 81,801,003 (GRCm38) Q343L probably benign Het
Catsper1 A G 19: 5,339,475 (GRCm38) T473A possibly damaging Het
Ccn4 T C 15: 66,919,210 (GRCm38) L287P probably damaging Het
Chmp6 G A 11: 119,915,523 (GRCm38) probably null Het
Cstdc7 T A 18: 42,173,543 (GRCm38) D58E probably damaging Het
D130040H23Rik T C 8: 69,302,543 (GRCm38) V200A possibly damaging Het
D830013O20Rik C T 12: 73,364,331 (GRCm38) noncoding transcript Het
Dcaf1 T A 9: 106,844,145 (GRCm38) S379T possibly damaging Het
Dcaf4 G A 12: 83,535,988 (GRCm38) probably benign Het
Dhx58 T C 11: 100,695,324 (GRCm38) I624V probably benign Het
Disp3 T C 4: 148,254,251 (GRCm38) E821G probably damaging Het
Dlc1 T A 8: 36,599,440 (GRCm38) E464V probably damaging Het
Dnah10 G A 5: 124,783,834 (GRCm38) V2151I probably damaging Het
Dnah6 C T 6: 73,188,535 (GRCm38) probably benign Het
Dnah8 G A 17: 30,748,665 (GRCm38) G2617D probably benign Het
Dnah9 C A 11: 65,918,804 (GRCm38) E872* probably null Het
Dock9 T C 14: 121,597,665 (GRCm38) Y99C probably damaging Het
Dpy19l3 T A 7: 35,716,646 (GRCm38) I310F probably damaging Het
Fggy A T 4: 95,837,654 (GRCm38) I137F probably damaging Het
Gli2 A G 1: 118,890,283 (GRCm38) probably benign Het
Gm14421 A T 2: 177,056,722 (GRCm38) noncoding transcript Het
Grin2a A G 16: 9,994,821 (GRCm38) probably null Het
Grin2b A G 6: 135,778,648 (GRCm38) probably benign Het
Incenp A G 19: 9,894,879 (GRCm38) S72P probably benign Het
Ipo11 A G 13: 106,910,194 (GRCm38) probably benign Het
Klc3 T A 7: 19,394,926 (GRCm38) N469Y possibly damaging Het
Lrrc42 A G 4: 107,247,505 (GRCm38) S88P probably benign Het
Lrrc49 G A 9: 60,680,600 (GRCm38) T93I probably benign Het
Ltn1 G A 16: 87,405,519 (GRCm38) probably benign Het
Mlycd A T 8: 119,407,641 (GRCm38) Q294L probably damaging Het
Mmrn1 T A 6: 60,975,815 (GRCm38) probably benign Het
Mrpl22 T A 11: 58,171,821 (GRCm38) I19N probably benign Het
Msh3 T A 13: 92,349,209 (GRCm38) K202N probably damaging Het
N4bp2 T C 5: 65,803,573 (GRCm38) probably benign Het
Ncam1 C T 9: 49,568,409 (GRCm38) D90N probably damaging Het
Ncoa2 A G 1: 13,186,731 (GRCm38) probably null Het
Ncoa6 TGC TGCGC 2: 155,408,291 (GRCm38) probably null Het
Nlrp1b A T 11: 71,164,099 (GRCm38) W844R probably damaging Het
Nmnat1 G T 4: 149,469,150 (GRCm38) N168K possibly damaging Het
Or5b96 A G 19: 12,890,445 (GRCm38) L44P probably damaging Het
Ost4 T C 5: 30,907,459 (GRCm38) H26R probably damaging Het
Otog G A 7: 46,304,231 (GRCm38) V2638M probably damaging Het
Otogl A T 10: 107,874,530 (GRCm38) I566N probably damaging Het
Pcyt1a T C 16: 32,470,186 (GRCm38) S282P probably damaging Het
Prkcg G A 7: 3,329,119 (GRCm38) E581K probably damaging Het
Ralgps2 A G 1: 156,887,089 (GRCm38) probably null Het
Rnf157 A G 11: 116,354,810 (GRCm38) probably benign Het
Scmh1 T C 4: 120,529,865 (GRCm38) probably benign Het
Sgo2b T C 8: 63,938,383 (GRCm38) H150R possibly damaging Het
Sh2b3 T G 5: 121,829,037 (GRCm38) T5P probably damaging Het
Skint6 A T 4: 112,991,236 (GRCm38) probably benign Het
Slfn10-ps T C 11: 83,035,302 (GRCm38) noncoding transcript Het
Sspo T A 6: 48,494,194 (GRCm38) probably benign Het
Tcp1 T A 17: 12,922,747 (GRCm38) probably benign Het
Tdp2 A G 13: 24,838,239 (GRCm38) M214V probably damaging Het
Tenm4 T G 7: 96,729,340 (GRCm38) probably benign Het
Tmem144 G A 3: 79,839,273 (GRCm38) probably benign Het
Tmem204 A G 17: 25,058,350 (GRCm38) I187T probably damaging Het
Tmem208 T G 8: 105,334,694 (GRCm38) D117E probably benign Het
Tnks1bp1 C T 2: 85,059,221 (GRCm38) P631S possibly damaging Het
Tomm70a T C 16: 57,147,821 (GRCm38) V517A probably damaging Het
Ttc7 T C 17: 87,379,895 (GRCm38) V801A probably damaging Het
Txndc5 A T 13: 38,507,953 (GRCm38) C146S probably damaging Het
Ubac2 A G 14: 122,008,917 (GRCm38) probably benign Het
Ube4b G T 4: 149,360,324 (GRCm38) T493K probably damaging Het
Ufl1 A T 4: 25,256,008 (GRCm38) Y504N probably benign Het
Ugt1a6a T C 1: 88,139,270 (GRCm38) V266A possibly damaging Het
Ugt1a6b T A 1: 88,107,467 (GRCm38) C176S probably damaging Het
Ulk3 T A 9: 57,590,686 (GRCm38) I90N probably damaging Het
Unc13c T C 9: 73,694,892 (GRCm38) I1357M probably benign Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Vmn2r114 A G 17: 23,309,826 (GRCm38) probably null Het
Vmn2r91 A C 17: 18,106,137 (GRCm38) N228T probably benign Het
Wdr43 T G 17: 71,631,997 (GRCm38) probably benign Het
Zbtb6 G T 2: 37,429,588 (GRCm38) Y109* probably null Het
Zfp980 A G 4: 145,701,997 (GRCm38) D432G probably benign Het
Other mutations in Nckap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Nckap5 APN 1 126,027,152 (GRCm38) missense probably damaging 0.99
IGL00956:Nckap5 APN 1 126,025,018 (GRCm38) missense probably damaging 0.98
IGL01414:Nckap5 APN 1 126,528,713 (GRCm38) missense probably damaging 1.00
IGL01482:Nckap5 APN 1 126,023,160 (GRCm38) missense probably damaging 1.00
IGL01508:Nckap5 APN 1 126,025,572 (GRCm38) missense probably damaging 0.96
IGL02071:Nckap5 APN 1 125,981,568 (GRCm38) missense probably damaging 0.97
IGL02129:Nckap5 APN 1 126,027,695 (GRCm38) nonsense probably null
IGL02821:Nckap5 APN 1 126,027,816 (GRCm38) missense probably damaging 1.00
IGL03174:Nckap5 APN 1 125,981,646 (GRCm38) missense probably damaging 1.00
F5493:Nckap5 UTSW 1 126,025,827 (GRCm38) missense probably benign
G5030:Nckap5 UTSW 1 126,025,854 (GRCm38) missense probably damaging 0.96
R0033:Nckap5 UTSW 1 125,940,242 (GRCm38) intron probably benign
R0164:Nckap5 UTSW 1 126,024,407 (GRCm38) missense possibly damaging 0.84
R0349:Nckap5 UTSW 1 126,026,434 (GRCm38) missense probably benign
R0482:Nckap5 UTSW 1 126,026,365 (GRCm38) missense possibly damaging 0.92
R0508:Nckap5 UTSW 1 125,981,384 (GRCm38) splice site probably null
R0541:Nckap5 UTSW 1 126,695,722 (GRCm38) missense possibly damaging 0.82
R0609:Nckap5 UTSW 1 126,027,288 (GRCm38) nonsense probably null
R0701:Nckap5 UTSW 1 126,025,357 (GRCm38) missense probably benign 0.06
R0782:Nckap5 UTSW 1 125,981,541 (GRCm38) missense probably damaging 1.00
R1389:Nckap5 UTSW 1 126,026,710 (GRCm38) missense probably damaging 0.99
R1401:Nckap5 UTSW 1 126,014,661 (GRCm38) splice site probably benign
R1436:Nckap5 UTSW 1 126,026,061 (GRCm38) missense possibly damaging 0.96
R1506:Nckap5 UTSW 1 126,025,913 (GRCm38) nonsense probably null
R1528:Nckap5 UTSW 1 126,024,922 (GRCm38) missense possibly damaging 0.68
R1942:Nckap5 UTSW 1 126,024,302 (GRCm38) missense probably damaging 1.00
R1968:Nckap5 UTSW 1 126,014,630 (GRCm38) missense probably damaging 0.99
R2055:Nckap5 UTSW 1 126,026,898 (GRCm38) missense probably damaging 1.00
R2105:Nckap5 UTSW 1 126,026,518 (GRCm38) missense probably damaging 1.00
R2214:Nckap5 UTSW 1 126,025,750 (GRCm38) missense possibly damaging 0.77
R2311:Nckap5 UTSW 1 126,528,752 (GRCm38) missense probably damaging 1.00
R2403:Nckap5 UTSW 1 126,027,409 (GRCm38) missense probably benign 0.18
R2430:Nckap5 UTSW 1 125,914,757 (GRCm38) missense probably damaging 0.99
R2914:Nckap5 UTSW 1 126,026,537 (GRCm38) splice site probably null
R3782:Nckap5 UTSW 1 126,025,074 (GRCm38) missense possibly damaging 0.93
R4133:Nckap5 UTSW 1 126,222,706 (GRCm38) missense probably benign 0.13
R4249:Nckap5 UTSW 1 126,027,639 (GRCm38) missense probably benign 0.01
R4448:Nckap5 UTSW 1 126,025,726 (GRCm38) nonsense probably null
R4456:Nckap5 UTSW 1 125,914,735 (GRCm38) unclassified probably benign
R4682:Nckap5 UTSW 1 126,102,542 (GRCm38) critical splice donor site probably null
R4817:Nckap5 UTSW 1 126,027,215 (GRCm38) missense possibly damaging 0.68
R4907:Nckap5 UTSW 1 126,026,152 (GRCm38) missense possibly damaging 0.92
R4908:Nckap5 UTSW 1 126,027,587 (GRCm38) missense probably damaging 1.00
R4924:Nckap5 UTSW 1 126,027,028 (GRCm38) nonsense probably null
R4926:Nckap5 UTSW 1 126,528,641 (GRCm38) intron probably benign
R5032:Nckap5 UTSW 1 125,977,049 (GRCm38) missense possibly damaging 0.62
R5133:Nckap5 UTSW 1 126,033,960 (GRCm38) missense probably benign 0.01
R5197:Nckap5 UTSW 1 126,222,673 (GRCm38) missense possibly damaging 0.79
R5238:Nckap5 UTSW 1 126,027,724 (GRCm38) missense probably damaging 0.96
R5257:Nckap5 UTSW 1 126,024,508 (GRCm38) missense probably damaging 0.99
R5277:Nckap5 UTSW 1 126,026,540 (GRCm38) nonsense probably null
R5512:Nckap5 UTSW 1 126,027,744 (GRCm38) missense possibly damaging 0.63
R5700:Nckap5 UTSW 1 125,976,925 (GRCm38) critical splice donor site probably null
R5789:Nckap5 UTSW 1 126,027,702 (GRCm38) missense probably damaging 1.00
R6029:Nckap5 UTSW 1 126,025,786 (GRCm38) missense possibly damaging 0.89
R6249:Nckap5 UTSW 1 126,024,930 (GRCm38) missense probably benign
R6292:Nckap5 UTSW 1 125,915,015 (GRCm38) missense probably damaging 0.99
R6521:Nckap5 UTSW 1 126,382,172 (GRCm38) missense probably damaging 1.00
R6875:Nckap5 UTSW 1 126,023,194 (GRCm38) missense probably benign 0.03
R7017:Nckap5 UTSW 1 126,102,661 (GRCm38) missense probably damaging 1.00
R7018:Nckap5 UTSW 1 126,025,048 (GRCm38) missense probably damaging 0.99
R7054:Nckap5 UTSW 1 126,258,712 (GRCm38) splice site probably null
R7204:Nckap5 UTSW 1 126,026,367 (GRCm38) missense probably benign
R7336:Nckap5 UTSW 1 126,026,049 (GRCm38) missense probably benign 0.00
R7544:Nckap5 UTSW 1 126,026,211 (GRCm38) missense possibly damaging 0.92
R7590:Nckap5 UTSW 1 126,026,533 (GRCm38) missense probably benign 0.00
R7684:Nckap5 UTSW 1 126,026,857 (GRCm38) missense probably benign 0.00
R7749:Nckap5 UTSW 1 126,024,646 (GRCm38) missense probably damaging 1.00
R7773:Nckap5 UTSW 1 126,026,844 (GRCm38) missense probably benign 0.00
R7813:Nckap5 UTSW 1 126,025,426 (GRCm38) missense probably benign 0.10
R7970:Nckap5 UTSW 1 126,025,021 (GRCm38) nonsense probably null
R7992:Nckap5 UTSW 1 126,026,810 (GRCm38) missense probably damaging 0.99
R8278:Nckap5 UTSW 1 126,027,772 (GRCm38) missense probably damaging 1.00
R8373:Nckap5 UTSW 1 126,026,295 (GRCm38) missense probably benign 0.02
R8414:Nckap5 UTSW 1 126,014,620 (GRCm38) missense probably damaging 1.00
R8755:Nckap5 UTSW 1 126,026,542 (GRCm38) missense possibly damaging 0.89
R8845:Nckap5 UTSW 1 125,981,686 (GRCm38) missense possibly damaging 0.80
R9016:Nckap5 UTSW 1 126,695,754 (GRCm38) start codon destroyed probably null 0.01
R9209:Nckap5 UTSW 1 125,940,191 (GRCm38) missense unknown
R9214:Nckap5 UTSW 1 126,014,639 (GRCm38) missense probably benign 0.01
R9300:Nckap5 UTSW 1 125,981,686 (GRCm38) nonsense probably null
R9464:Nckap5 UTSW 1 126,024,757 (GRCm38) missense probably benign 0.00
R9572:Nckap5 UTSW 1 126,027,717 (GRCm38) missense probably benign 0.41
R9721:Nckap5 UTSW 1 126,027,280 (GRCm38) missense probably damaging 0.98
R9748:Nckap5 UTSW 1 126,026,202 (GRCm38) missense probably damaging 1.00
Z1088:Nckap5 UTSW 1 126,024,832 (GRCm38) missense possibly damaging 0.76
Z1176:Nckap5 UTSW 1 126,528,681 (GRCm38) critical splice donor site probably null
Z1177:Nckap5 UTSW 1 126,222,659 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCGCGATCAATGAAATCGGC -3'
(R):5'- TCCAGCTCTCAGTAGCAGGAGAATG -3'

Sequencing Primer
(F):5'- AGGAAGTAAACAGCTCTCCTTG -3'
(R):5'- CTCAGTAGCAGGAGAATGGAAGC -3'
Posted On 2013-04-16