Incidental Mutation 'R7336:Nckap5'
ID 569465
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 045426-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7336 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125953786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 922 (I922K)
Ref Sequence ENSEMBL: ENSMUSP00000125624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000094610] [ENSMUST00000112583] [ENSMUST00000161954] [ENSMUST00000162877]
AlphaFold E9QAE1
Predicted Effect probably benign
Transcript: ENSMUST00000057846
AA Change: I858K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: I858K

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: I990K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: I990K

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: I922K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: I922K

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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (80/81)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,840,174 (GRCm39) probably null Het
Abca15 A T 7: 119,987,456 (GRCm39) Q1247H possibly damaging Het
Acsf2 G C 11: 94,462,476 (GRCm39) Q180E probably benign Het
Adamts8 A G 9: 30,873,363 (GRCm39) D856G probably benign Het
Agrn A T 4: 156,259,371 (GRCm39) C828* probably null Het
Ankub1 T C 3: 57,573,108 (GRCm39) T205A probably benign Het
Atm A T 9: 53,373,803 (GRCm39) Y2150N possibly damaging Het
Barhl1 A G 2: 28,799,855 (GRCm39) F257L probably benign Het
Bcat2 T A 7: 45,224,909 (GRCm39) C27S probably benign Het
Bod1l G A 5: 41,978,867 (GRCm39) R816C probably damaging Het
Btg3 A G 16: 78,161,695 (GRCm39) Y172H probably benign Het
Cacna1d T C 14: 29,767,239 (GRCm39) D1940G probably benign Het
Catsperg2 T A 7: 29,406,026 (GRCm39) N624I possibly damaging Het
Ccdc146 A G 5: 21,508,110 (GRCm39) V646A probably benign Het
Ccp110 C T 7: 118,321,433 (GRCm39) P363S probably damaging Het
Cct4 C A 11: 22,951,564 (GRCm39) T377K possibly damaging Het
Cemip2 C A 19: 21,803,509 (GRCm39) Y847* probably null Het
Cep350 T A 1: 155,738,022 (GRCm39) H2607L probably benign Het
Cfap46 A G 7: 139,200,020 (GRCm39) F1954L unknown Het
Chat C T 14: 32,145,213 (GRCm39) probably null Het
Clasp2 A G 9: 113,705,421 (GRCm39) probably null Het
Cldn9 T C 17: 23,901,989 (GRCm39) D212G probably benign Het
Cp G A 3: 20,018,696 (GRCm39) probably null Het
Cyfip1 T A 7: 55,576,148 (GRCm39) I1108N possibly damaging Het
Dnah14 A G 1: 181,625,299 (GRCm39) D4060G probably damaging Het
Dpyd A G 3: 118,858,570 (GRCm39) T595A probably damaging Het
Eps8 G A 6: 137,486,211 (GRCm39) R434C possibly damaging Het
Fasl A G 1: 161,615,557 (GRCm39) Y100H probably damaging Het
Fkbp9 A T 6: 56,826,712 (GRCm39) N104I probably damaging Het
Frmd4a A G 2: 4,478,025 (GRCm39) T65A possibly damaging Het
Gm1110 T C 9: 26,825,653 (GRCm39) N102S probably damaging Het
Gm2381 T C 7: 42,471,804 (GRCm39) Q25R possibly damaging Het
Gtpbp2 A G 17: 46,472,239 (GRCm39) Y58C probably damaging Het
H2-T3 C A 17: 36,498,237 (GRCm39) K269N probably damaging Het
Icosl C A 10: 77,909,707 (GRCm39) Y217* probably null Het
Il17rd G T 14: 26,809,503 (GRCm39) R153L probably benign Het
Kif17 C A 4: 138,025,617 (GRCm39) T973K possibly damaging Het
Klk1b16 A G 7: 43,790,907 (GRCm39) I236M probably benign Het
Lgmn G A 12: 102,389,998 (GRCm39) probably benign Het
Lmbr1l T C 15: 98,811,468 (GRCm39) D54G possibly damaging Het
Lrrc49 A T 9: 60,584,474 (GRCm39) I196N possibly damaging Het
Maml1 C T 11: 50,157,276 (GRCm39) A300T possibly damaging Het
Mapkap1 A T 2: 34,423,829 (GRCm39) Q293L possibly damaging Het
Mki67 T C 7: 135,315,568 (GRCm39) T69A probably benign Het
Mlph G A 1: 90,849,705 (GRCm39) probably null Het
Myh1 A T 11: 67,111,435 (GRCm39) M1625L probably benign Het
Myh3 G T 11: 66,981,847 (GRCm39) R781L probably benign Het
Nlrp5 T A 7: 23,117,059 (GRCm39) M261K probably damaging Het
Or1e1d-ps1 G A 11: 73,819,663 (GRCm39) M204I probably benign Het
Or4f47 A T 2: 111,972,514 (GRCm39) S75C possibly damaging Het
Or5af1 T A 11: 58,722,750 (GRCm39) Y257N probably damaging Het
Or8g52 A G 9: 39,630,906 (GRCm39) N128D probably benign Het
Pak1 T A 7: 97,538,179 (GRCm39) V262E probably benign Het
Pigw A T 11: 84,767,930 (GRCm39) D466E probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Rbm15 A C 3: 107,240,432 (GRCm39) probably benign Het
Rfx1 A G 8: 84,800,385 (GRCm39) probably benign Het
Rfx7 A G 9: 72,500,639 (GRCm39) Y133C probably damaging Het
Serpinb9d T A 13: 33,384,702 (GRCm39) D226E probably benign Het
Sgk3 G A 1: 9,954,701 (GRCm39) A271T possibly damaging Het
Sh2d5 T A 4: 137,984,150 (GRCm39) C173S probably benign Het
Skint8 T C 4: 111,796,769 (GRCm39) V291A probably benign Het
Slc22a27 T A 19: 7,904,054 (GRCm39) N28Y probably benign Het
Slc25a54 G A 3: 109,023,751 (GRCm39) V449I probably benign Het
Slc39a9 T C 12: 80,726,316 (GRCm39) F255S probably damaging Het
Spata31d1c C T 13: 65,183,942 (GRCm39) H495Y probably damaging Het
Stab2 G A 10: 86,805,049 (GRCm39) Q310* probably null Het
Supt16 C A 14: 52,408,948 (GRCm39) A809S possibly damaging Het
Tenm3 A T 8: 48,689,212 (GRCm39) M2125K possibly damaging Het
Tex2 G A 11: 106,439,685 (GRCm39) T565M unknown Het
Tll1 G A 8: 64,478,176 (GRCm39) A859V probably damaging Het
Tmem106c C T 15: 97,867,512 (GRCm39) T232I possibly damaging Het
Trim65 T G 11: 116,019,116 (GRCm39) D141A probably benign Het
Trim80 T C 11: 115,332,042 (GRCm39) F78S probably damaging Het
Txnrd1 T A 10: 82,709,051 (GRCm39) I83N probably benign Het
Vnn3 G A 10: 23,727,806 (GRCm39) G72D probably benign Het
Wasl G T 6: 24,619,686 (GRCm39) P278Q unknown Het
Wdr62 A T 7: 29,943,342 (GRCm39) L951Q probably damaging Het
Zfp760 C T 17: 21,942,814 (GRCm39) T663I unknown 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
R5032:Nckap5 UTSW 1 125,904,786 (GRCm39) missense possibly damaging 0.62
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
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'- TCACTCCTGAGAAGGAAGGC -3'
(R):5'- TAAGTCCAGGGTTGAAATCCC -3'

Sequencing Primer
(F):5'- GACAGGCTTTTACAAGATGTCACCTC -3'
(R):5'- GTTGAAATCCCCGCTGTTGAAAG -3'
Posted On 2019-09-13