Incidental Mutation 'R2055:Nckap5'
ID 226563
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 040060-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2055 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125954635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 639 (E639G)
Ref Sequence ENSEMBL: ENSMUSP00000125624 (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: E575G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: E575G

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: E707G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: E707G

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 damaging
Transcript: ENSMUST00000161954
AA Change: E639G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: E639G

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (74/74)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,107 (GRCm39) E185G probably damaging Het
3425401B19Rik A G 14: 32,384,508 (GRCm39) S486P probably benign Het
A630023A22Rik T C 14: 33,774,707 (GRCm39) probably benign Het
Abca1 T C 4: 53,069,881 (GRCm39) N1271S probably benign Het
AI597479 C T 1: 43,150,280 (GRCm39) A130V probably benign Het
Angptl4 A G 17: 33,999,498 (GRCm39) probably null Het
Arhgef25 T A 10: 127,021,004 (GRCm39) N294I probably damaging Het
Atp2b1 T C 10: 98,850,421 (GRCm39) V848A probably damaging Het
Bard1 T C 1: 71,114,031 (GRCm39) T317A probably benign Het
C1rl T C 6: 124,470,781 (GRCm39) W30R probably benign Het
Cchcr1 A G 17: 35,837,317 (GRCm39) E379G probably damaging Het
Cfap36 G T 11: 29,197,122 (GRCm39) A3E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca4a A G 3: 144,676,489 (GRCm39) Y64H probably damaging Het
Cops5 A G 1: 10,102,562 (GRCm39) probably null Het
Cracr2a G T 6: 127,585,564 (GRCm39) E121* probably null Het
Cstf1 A G 2: 172,222,403 (GRCm39) E387G probably benign Het
D630044L22Rik A C 17: 26,180,951 (GRCm39) D733E probably damaging Het
Dlc1 A T 8: 37,060,535 (GRCm39) C514S probably damaging Het
Dmwd G T 7: 18,810,610 (GRCm39) R139L probably benign Het
Dnah17 A T 11: 117,958,357 (GRCm39) S2709T probably benign Het
Dnmt3a T C 12: 3,922,859 (GRCm39) I154T probably benign Het
Dpp7 T C 2: 25,244,490 (GRCm39) N297S possibly damaging Het
Ern2 A T 7: 121,783,168 (GRCm39) V34D possibly damaging Het
Erp27 A G 6: 136,885,227 (GRCm39) probably benign Het
F2 T C 2: 91,458,787 (GRCm39) T508A probably benign Het
Fam181b A G 7: 92,729,634 (GRCm39) T136A probably benign Het
Fam227b C A 2: 125,942,874 (GRCm39) V308L probably benign Het
Fbxw20 A T 9: 109,050,442 (GRCm39) H394Q probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Glt8d1 T G 14: 30,731,693 (GRCm39) S111A probably benign Het
Gm11146 A T 16: 77,391,969 (GRCm39) probably benign Het
Grip1 C T 10: 119,885,416 (GRCm39) probably benign Het
H2-Q2 A T 17: 35,564,247 (GRCm39) T334S probably benign Het
Hcrtr1 A G 4: 130,024,680 (GRCm39) V402A probably benign Het
Hmcn2 C A 2: 31,268,294 (GRCm39) A1130D probably benign Het
Hsd17b2 T C 8: 118,428,913 (GRCm39) L60P possibly damaging Het
Htr1f A T 16: 64,746,398 (GRCm39) I298N probably damaging Het
Ighmbp2 G T 19: 3,315,095 (GRCm39) A775D probably benign Het
Kcnn3 A G 3: 89,428,682 (GRCm39) T303A probably damaging Het
Kiz C A 2: 146,733,203 (GRCm39) Q460K probably benign Het
Krt75 C T 15: 101,481,196 (GRCm39) V193I probably benign Het
Lsp1 G A 7: 142,043,144 (GRCm39) probably null Het
Mfsd12 A G 10: 81,196,063 (GRCm39) H146R probably damaging Het
Mmp23 T C 4: 155,736,444 (GRCm39) K199R possibly damaging Het
Naip2 A G 13: 100,315,880 (GRCm39) V300A probably benign Het
Nbeal1 C T 1: 60,350,216 (GRCm39) L2422F probably damaging Het
Nbeal2 G T 9: 110,464,375 (GRCm39) D1094E possibly damaging Het
Nr4a3 A G 4: 48,067,771 (GRCm39) I456V possibly damaging Het
Or2t43 A G 11: 58,457,673 (GRCm39) F166S probably damaging Het
Parp9 G T 16: 35,773,984 (GRCm39) V86L probably damaging Het
Phactr1 A G 13: 43,231,416 (GRCm39) N386S probably damaging Het
Pold2 A T 11: 5,823,516 (GRCm39) Y304* probably null Het
Pou5f2 A G 13: 78,173,940 (GRCm39) Y294C probably benign Het
Rars1 A G 11: 35,717,410 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,606 (GRCm39) E526G probably benign Het
Sacs T C 14: 61,451,498 (GRCm39) Y4515H probably damaging Het
Sdk2 C A 11: 113,741,780 (GRCm39) R813L probably damaging Het
Six5 T C 7: 18,829,154 (GRCm39) V198A possibly damaging Het
Slco1a7 A T 6: 141,671,181 (GRCm39) H430Q probably benign Het
Spata31e2 A T 1: 26,724,813 (GRCm39) N122K possibly damaging Het
Spn A G 7: 126,736,388 (GRCm39) S40P probably damaging Het
Ssr1 A G 13: 38,171,761 (GRCm39) probably benign Het
Tlr6 C A 5: 65,111,269 (GRCm39) C546F probably damaging Het
Top1 T A 2: 160,544,748 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,532 (GRCm39) S151P probably damaging Het
Tubb2b T G 13: 34,311,708 (GRCm39) K362Q probably benign Het
Unc13c T C 9: 73,643,832 (GRCm39) T1211A probably damaging Het
Vmn1r15 T C 6: 57,235,729 (GRCm39) V199A possibly damaging Het
Vnn1 A G 10: 23,776,475 (GRCm39) probably benign Het
Vps41 T A 13: 19,038,786 (GRCm39) N737K possibly damaging Het
Vps50 T A 6: 3,522,265 (GRCm39) N144K probably benign Het
Zc3h7a A T 16: 10,955,340 (GRCm39) N911K probably benign Het
Zkscan7 T A 9: 122,718,002 (GRCm39) S132R 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
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'- TTCTGAGGTGAAGACTTGCC -3'
(R):5'- AATTCAGCTCTCACCAGGCTG -3'

Sequencing Primer
(F):5'- AGACCTTGCTTTGTGTAGACAC -3'
(R):5'- TGGAGTCGTCACTGTCACCAG -3'
Posted On 2014-09-17