Incidental Mutation 'R1528:Nckap5'
ID 166321
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 039568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1528 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125952659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1234 (V1234I)
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: V1234I

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: V1234I

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: V1366I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: V1366I

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: V1298I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: V1298I

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,530 (GRCm39) Q262L possibly damaging Het
Abcg4 T C 9: 44,186,020 (GRCm39) Y617C probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ano1 T G 7: 144,149,303 (GRCm39) S853R probably damaging Het
Ap4e1 T A 2: 126,853,743 (GRCm39) S60R possibly damaging Het
Atp4b C A 8: 13,439,693 (GRCm39) K176N possibly damaging Het
Atxn2 A T 5: 121,940,171 (GRCm39) D982V probably damaging Het
Atxn2 T C 5: 121,951,593 (GRCm39) F646S probably damaging Het
Bcl2l13 T C 6: 120,847,755 (GRCm39) C136R possibly damaging Het
Bltp1 C T 3: 37,106,684 (GRCm39) H5005Y unknown Het
Cacna1i A G 15: 80,275,975 (GRCm39) probably null Het
Ccdc122 T A 14: 77,305,379 (GRCm39) V11D possibly damaging Het
Cdnf A G 2: 3,522,078 (GRCm39) D90G probably damaging Het
Cep104 T G 4: 154,078,965 (GRCm39) V323G probably benign Het
Chmp6 A G 11: 119,807,541 (GRCm39) D128G probably benign Het
Clec18a A T 8: 111,805,498 (GRCm39) M201K probably benign Het
Col11a1 A T 3: 114,010,644 (GRCm39) probably benign Het
Col6a4 A T 9: 105,952,419 (GRCm39) M493K probably damaging Het
Crygd A C 1: 65,102,216 (GRCm39) probably null Het
Dennd1c T C 17: 57,373,935 (GRCm39) T543A probably benign Het
Erbb4 A T 1: 68,117,741 (GRCm39) C891* probably null Het
Ercc5 A T 1: 44,217,401 (GRCm39) K915* probably null Het
Ercc6 A T 14: 32,240,979 (GRCm39) N168Y probably damaging Het
Esrp2 G T 8: 106,863,384 (GRCm39) P6T unknown Het
Exoc1 A G 5: 76,697,411 (GRCm39) K396R possibly damaging Het
Fat3 T A 9: 15,836,387 (GRCm39) Y4039F probably benign Het
Fcsk A T 8: 111,609,873 (GRCm39) L1047Q probably damaging Het
Fgf7 T A 2: 125,877,738 (GRCm39) M35K probably damaging Het
Fras1 G A 5: 96,784,678 (GRCm39) G887D probably damaging Het
Gbp4 A T 5: 105,269,658 (GRCm39) probably null Het
Homez A T 14: 55,095,162 (GRCm39) M182K probably benign Het
Hrnr G A 3: 93,230,101 (GRCm39) S113N possibly damaging Het
Ifit3b T G 19: 34,589,072 (GRCm39) S83A probably benign Het
Ildr2 A G 1: 166,098,064 (GRCm39) probably null Het
Klhdc1 A T 12: 69,309,972 (GRCm39) R291S probably benign Het
Krt77 T A 15: 101,769,523 (GRCm39) I413F probably damaging Het
Lipn A G 19: 34,046,070 (GRCm39) I14M probably damaging Het
Macf1 T G 4: 123,369,807 (GRCm39) R86S probably benign Het
Mroh8 C A 2: 157,071,975 (GRCm39) G510V probably damaging Het
Mycbp2 A T 14: 103,470,033 (GRCm39) D1255E possibly damaging Het
Nlrp9c T C 7: 26,081,723 (GRCm39) K668E probably damaging Het
Nod2 T C 8: 89,391,217 (GRCm39) M508T possibly damaging Het
Npffr1 A G 10: 61,450,016 (GRCm39) M97V possibly damaging Het
Nsd3 G A 8: 26,188,795 (GRCm39) V43M probably damaging Het
Nubp2 A G 17: 25,103,388 (GRCm39) V163A probably damaging Het
Oas1e A T 5: 120,926,054 (GRCm39) F338Y probably damaging Het
Oat C A 7: 132,165,998 (GRCm39) G196C probably damaging Het
Or4a69 C T 2: 89,312,897 (GRCm39) G194D probably damaging Het
Or52e8b A T 7: 104,673,971 (GRCm39) L72Q probably damaging Het
Or7a41 T C 10: 78,871,398 (GRCm39) L256P probably damaging Het
P2ry13 T C 3: 59,117,710 (GRCm39) T23A probably benign Het
Phf8-ps A G 17: 33,286,215 (GRCm39) S196P probably damaging Het
Pja2 C A 17: 64,616,217 (GRCm39) S226I possibly damaging Het
Pkhd1l1 T C 15: 44,390,120 (GRCm39) V1412A probably damaging Het
Plekhs1 T C 19: 56,468,427 (GRCm39) S332P probably damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Prdm10 A G 9: 31,268,582 (GRCm39) T844A probably damaging Het
Ripk1 C T 13: 34,212,130 (GRCm39) P480L probably benign Het
Rnf139 T C 15: 58,771,064 (GRCm39) V363A probably damaging Het
Rnf19a A T 15: 36,265,801 (GRCm39) S99T possibly damaging Het
Rnf224 G A 2: 25,126,110 (GRCm39) T81I probably benign Het
Rpgrip1 T C 14: 52,349,681 (GRCm39) L23S probably benign Het
Setd5 T A 6: 113,098,699 (GRCm39) F758L probably damaging Het
Smlr1 C A 10: 25,411,976 (GRCm39) V4L possibly damaging Het
Snx1 T C 9: 66,016,825 (GRCm39) D34G probably damaging Het
Spaca5 A T X: 20,942,892 (GRCm39) T92S probably benign Het
Speer4f2 A G 5: 17,581,540 (GRCm39) T161A Het
Swi5 C A 2: 32,170,716 (GRCm39) probably null Het
Syne2 T A 12: 76,012,874 (GRCm39) D2689E probably benign Het
Tcof1 T A 18: 60,948,071 (GRCm39) K1299* probably null Het
Tmprss11e G A 5: 86,872,069 (GRCm39) T49I probably damaging Het
Tmx3 T A 18: 90,555,210 (GRCm39) V309D possibly damaging Het
Trim30b C G 7: 104,006,506 (GRCm39) V117L possibly damaging Het
Tsen2 C A 6: 115,536,989 (GRCm39) H248Q probably benign Het
Ttn T C 2: 76,567,412 (GRCm39) Y19500C probably damaging Het
Tubgcp2 A G 7: 139,613,696 (GRCm39) probably benign Het
Vwf A C 6: 125,585,254 (GRCm39) D712A possibly damaging Het
Wfdc2 A G 2: 164,407,828 (GRCm39) K166E probably damaging Het
Xrcc2 T C 5: 25,897,292 (GRCm39) D219G probably benign Het
Zc3h6 C T 2: 128,858,989 (GRCm39) P1007S probably benign Het
Zdhhc17 A T 10: 110,784,050 (GRCm39) probably null Het
Zfp369 T A 13: 65,439,979 (GRCm39) I221N probably damaging Het
Zfp655 A T 5: 145,181,411 (GRCm39) N423I 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
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
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'- CGACACTAGTCCCAGTTGAAGAAGC -3'
(R):5'- TCAATGGAAGGGTCCCCAAGCAAG -3'

Sequencing Primer
(F):5'- TCCCAGTTGAAGAAGCATCTG -3'
(R):5'- TAATCTGCCCAATGCTGGAAG -3'
Posted On 2014-04-13