Incidental Mutation 'R4817:Nckap5'
ID 369870
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 042435-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4817 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125954952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 469 (D469E)
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: D469E

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: D469E

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: D601E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: D601E

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: D533E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: D533E

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: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (108/112)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 T A 2: 91,033,963 (GRCm39) D44E probably damaging Het
Acp5 T C 9: 22,038,379 (GRCm39) I307M probably benign Het
Ahsa1 A G 12: 87,319,940 (GRCm39) D245G possibly damaging Het
Ankrd40 A G 11: 94,230,459 (GRCm39) K316E probably benign Het
Apol9b G A 15: 77,620,088 (GRCm39) E295K possibly damaging Het
Aqp4 C A 18: 15,532,815 (GRCm39) G93C probably damaging Het
Arhgap21 A G 2: 20,854,967 (GRCm39) V1465A probably benign Het
Arhgap5 C T 12: 52,565,992 (GRCm39) P988S possibly damaging Het
Asxl3 A C 18: 22,658,511 (GRCm39) K2174Q probably damaging Het
Brf1 A T 12: 112,935,921 (GRCm39) I250N probably damaging Het
Calm1 A G 12: 100,169,832 (GRCm39) probably null Het
Ccdc33 C T 9: 57,974,818 (GRCm39) V352M probably damaging Het
Ccdc88a G T 11: 29,410,907 (GRCm39) K464N probably benign Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Cdc25b T A 2: 131,035,223 (GRCm39) I327N probably damaging Het
Cenpf G A 1: 189,414,566 (GRCm39) H184Y possibly damaging Het
Cimap1d G A 10: 79,475,851 (GRCm39) P238S probably damaging Het
Col6a5 G A 9: 105,811,497 (GRCm39) T674I unknown Het
Creg2 A T 1: 39,662,358 (GRCm39) M258K probably damaging Het
Csf3r T A 4: 125,931,449 (GRCm39) Y477* probably null Het
Cyp3a44 T A 5: 145,740,565 (GRCm39) Y25F possibly damaging Het
Degs2 T A 12: 108,655,325 (GRCm39) R283* probably null Het
Dido1 T C 2: 180,303,209 (GRCm39) N1565S probably benign Het
Dnah6 A T 6: 72,999,407 (GRCm39) M4008K probably benign Het
Dnmbp C A 19: 43,838,411 (GRCm39) G1138V probably benign Het
Drosha A C 15: 12,914,133 (GRCm39) H1136P probably damaging Het
Duox2 T G 2: 122,126,996 (GRCm39) N173T probably damaging Het
Dync1li1 T G 9: 114,534,162 (GRCm39) I87M probably benign Het
E2f8 A C 7: 48,517,494 (GRCm39) S770A probably benign Het
Efemp1 A G 11: 28,876,241 (GRCm39) T469A probably damaging Het
Eif3f A T 7: 108,536,982 (GRCm39) T136S probably damaging Het
Enpp5 T C 17: 44,391,871 (GRCm39) *46R probably null Het
Epb41l4b A G 4: 57,103,428 (GRCm39) V136A probably damaging Het
Fam186a A C 15: 99,831,419 (GRCm39) probably benign Het
Flt4 A G 11: 49,516,242 (GRCm39) Y115C probably damaging Het
Gal T A 19: 3,461,126 (GRCm39) probably null Het
Galnt3 C T 2: 65,923,883 (GRCm39) V462I possibly damaging Het
Gas2l1 A G 11: 5,011,429 (GRCm39) S467P possibly damaging Het
Gbx1 A G 5: 24,731,204 (GRCm39) L204P probably damaging Het
Gle1 T A 2: 29,826,223 (GRCm39) S101T probably benign Het
Gltpd2 A C 11: 70,410,303 (GRCm39) Q87P probably damaging Het
Gm12789 T A 4: 101,846,079 (GRCm39) D113E probably damaging Het
Grin3b G A 10: 79,812,732 (GRCm39) G936R probably benign Het
Gtf3c2 C T 5: 31,331,434 (GRCm39) probably null Het
Gvin3 T A 7: 106,200,437 (GRCm39) noncoding transcript Het
Klhl28 T C 12: 65,004,043 (GRCm39) T157A probably benign Het
Kmt2a A G 9: 44,732,763 (GRCm39) probably benign Het
Lamp1 A G 8: 13,222,541 (GRCm39) T242A probably benign Het
Lhfpl5 T G 17: 28,795,300 (GRCm39) I109S possibly damaging Het
Lhfpl5 T A 17: 28,801,962 (GRCm39) *220R probably null Het
Map4k2 C T 19: 6,394,459 (GRCm39) T313I probably damaging Het
Matn2 A G 15: 34,423,945 (GRCm39) D601G probably damaging Het
Mcur1 C T 13: 43,705,147 (GRCm39) V170M possibly damaging Het
Mphosph10 T C 7: 64,041,969 (GRCm39) probably benign Het
Nat8l G A 5: 34,158,387 (GRCm39) A266T probably benign Het
Nckap5l G T 15: 99,321,067 (GRCm39) P1238T probably damaging Het
Ngf A G 3: 102,417,156 (GRCm39) probably benign Het
Ntng1 T A 3: 109,842,184 (GRCm39) L196F probably damaging Het
Or2q1 A G 6: 42,794,896 (GRCm39) I164V possibly damaging Het
Or2v2 A T 11: 49,004,448 (GRCm39) V35D probably damaging Het
Pclo A T 5: 14,725,045 (GRCm39) Y1301F unknown Het
Pclo A G 5: 14,763,139 (GRCm39) T3871A unknown Het
Peli3 T C 19: 4,982,594 (GRCm39) E357G probably damaging Het
Pkd1 T A 17: 24,784,348 (GRCm39) probably null Het
Pla2g2c T G 4: 138,461,645 (GRCm39) F38C probably damaging Het
Plekha2 T A 8: 25,549,960 (GRCm39) T126S possibly damaging Het
Polr3f T A 2: 144,376,001 (GRCm39) *142K probably null Het
Ppcs C T 4: 119,276,343 (GRCm39) V81M probably benign Het
Prl7a1 A G 13: 27,819,747 (GRCm39) I169T probably damaging Het
Rbm19 C A 5: 120,271,799 (GRCm39) probably benign Het
Rdh7 T A 10: 127,721,631 (GRCm39) Y215F probably benign Het
Rragd T G 4: 32,995,072 (GRCm39) S62R probably benign Het
Rtel1 T C 2: 180,997,728 (GRCm39) S1114P possibly damaging Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Setbp1 A G 18: 78,902,015 (GRCm39) S551P probably damaging Het
Setd6 T C 8: 96,443,683 (GRCm39) probably benign Het
Slmap A C 14: 26,183,507 (GRCm39) M292R probably damaging Het
Srrm4 T C 5: 116,615,193 (GRCm39) D97G unknown Het
Stk-ps2 G A 1: 46,068,125 (GRCm39) noncoding transcript Het
Syce1 A T 7: 140,358,336 (GRCm39) M204K probably benign Het
Syk A G 13: 52,765,242 (GRCm39) K123R probably benign Het
Tbc1d14 A T 5: 36,729,175 (GRCm39) S64T probably damaging Het
Tmt1a3 A T 15: 100,233,214 (GRCm39) D135V probably damaging Het
Traf3ip3 T C 1: 192,867,137 (GRCm39) K295E probably damaging Het
Trp53bp2 T C 1: 182,269,370 (GRCm39) probably null Het
Tsc2 T A 17: 24,815,716 (GRCm39) probably null Het
Tspyl4 T A 10: 34,173,734 (GRCm39) C75* probably null Het
Uqcc2 T C 17: 27,344,133 (GRCm39) I52V probably benign Het
Vcp T A 4: 42,983,486 (GRCm39) T525S probably damaging Het
Vmn2r18 A T 5: 151,508,897 (GRCm39) probably null Het
Vmp1 A G 11: 86,492,879 (GRCm39) V310A probably benign Het
Vps13d T A 4: 144,795,735 (GRCm39) R3671S probably damaging Het
Wdr3 T C 3: 100,053,861 (GRCm39) T544A possibly damaging Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp541 T A 7: 15,824,307 (GRCm39) F1010I probably damaging Het
Zfp64 T C 2: 168,768,032 (GRCm39) T527A probably benign Het
Zyx G T 6: 42,333,421 (GRCm39) R449M 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
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'- AGCTGATGGAAATTTCATCCCTGG -3'
(R):5'- CCACACAGCCAAGTTCATGG -3'

Sequencing Primer
(F):5'- TGGTGACAGTGACGACTCCAG -3'
(R):5'- CAAGTTCATGGCCATGTGC -3'
Posted On 2016-02-04