Incidental Mutation 'R4907:Nckap5'
ID 379081
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 042509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4907 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125953889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 824 (S824P)
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: S824P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: S824P

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: S956P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: S956P

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: S888P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: S888P

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: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 98% (89/91)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik G T 1: 57,422,350 (GRCm39) G242V probably damaging Het
4933412E24Rik T C 15: 59,887,957 (GRCm39) E161G probably benign Het
Abcc5 A G 16: 20,195,296 (GRCm39) S734P possibly damaging Het
Actn1 T G 12: 80,228,188 (GRCm39) H394P probably damaging Het
Adam8 A T 7: 139,569,286 (GRCm39) D144E probably benign Het
Ankrd50 A T 3: 38,510,824 (GRCm39) N514K probably damaging Het
Ankrd50 T A 3: 38,509,122 (GRCm39) K1082* probably null Het
Atp4a A G 7: 30,418,517 (GRCm39) I602V possibly damaging Het
Baz2a A G 10: 127,946,677 (GRCm39) T64A probably damaging Het
Btbd19 A G 4: 116,977,764 (GRCm39) probably benign Het
Casz1 T A 4: 149,028,998 (GRCm39) S1148T probably damaging Het
Ccdc18 T A 5: 108,284,007 (GRCm39) D103E probably benign Het
Cd209d T C 8: 3,927,948 (GRCm39) N52S probably benign Het
Cdh20 T A 1: 110,066,053 (GRCm39) Y776N probably damaging Het
Cdk14 A G 5: 5,299,140 (GRCm39) V101A probably damaging Het
Cldn22 T C 8: 48,277,742 (GRCm39) V60A probably benign Het
Clec10a G A 11: 70,060,797 (GRCm39) G183D probably benign Het
Cnga3 T C 1: 37,281,023 (GRCm39) probably null Het
Cts3 A T 13: 61,714,634 (GRCm39) F224I probably benign Het
Dync2i2 A G 2: 29,922,472 (GRCm39) probably null Het
Fbxo40 A G 16: 36,790,064 (GRCm39) Y349H probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gm10029 A T 13: 6,712,592 (GRCm39) noncoding transcript Het
Gm14399 T A 2: 174,973,182 (GRCm39) probably benign Het
Gm9932 T C 5: 100,347,014 (GRCm39) noncoding transcript Het
Immp1l A G 2: 105,767,462 (GRCm39) Y107C probably damaging Het
Ism1 G T 2: 139,520,672 (GRCm39) G28V probably benign Het
Klf1 C A 8: 85,629,814 (GRCm39) S213* probably null Het
Krt12 T C 11: 99,309,188 (GRCm39) E329G probably damaging Het
Lama2 A T 10: 27,040,942 (GRCm39) N1460K probably benign Het
Llgl2 T A 11: 115,744,800 (GRCm39) Y932* probably null Het
Lrrc7 T C 3: 157,866,877 (GRCm39) I955V probably damaging Het
Ltbp1 A G 17: 75,312,899 (GRCm39) R7G probably benign Het
Mcm3ap A G 10: 76,329,275 (GRCm39) E1152G probably damaging Het
Mgam2-ps T C 6: 40,811,677 (GRCm39) noncoding transcript Het
Mical3 T A 6: 120,984,259 (GRCm39) M206L probably benign Het
Mndal T G 1: 173,690,256 (GRCm39) N358T probably damaging Het
Ndufb2 T C 6: 39,573,554 (GRCm39) probably benign Het
Nfatc3 C A 8: 106,806,359 (GRCm39) H401Q probably damaging Het
Npas2 T C 1: 39,401,066 (GRCm39) V810A unknown Het
Nt5c2 A G 19: 46,884,978 (GRCm39) V245A possibly damaging Het
Or1j4 A T 2: 36,740,270 (GRCm39) I71F probably benign Het
Or4d5 A T 9: 40,011,955 (GRCm39) M277K probably benign Het
Or51ah3 A G 7: 103,210,241 (GRCm39) M186V possibly damaging Het
Or52h9 A G 7: 104,202,518 (GRCm39) R131G probably damaging Het
Or5b109 A G 19: 13,212,157 (GRCm39) D181G probably damaging Het
Otof A T 5: 30,536,005 (GRCm39) probably null Het
Pck1 C T 2: 172,998,816 (GRCm39) T358I probably damaging Het
Pclo T C 5: 14,730,065 (GRCm39) probably benign Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pgr G A 9: 8,947,044 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,367,475 (GRCm39) V1224E probably damaging Het
Pkd2l1 A G 19: 44,142,581 (GRCm39) V487A possibly damaging Het
Pkhd1 T C 1: 20,279,450 (GRCm39) D2956G probably damaging Het
Rexo2 A T 9: 48,390,703 (GRCm39) probably null Het
Rgs22 T A 15: 36,087,570 (GRCm39) L573F possibly damaging Het
Rufy3 T G 5: 88,732,051 (GRCm39) I18S possibly damaging Het
Slc30a9 T C 5: 67,503,505 (GRCm39) L393P probably damaging Het
Snw1 T C 12: 87,506,259 (GRCm39) I214V probably benign Het
Sorbs1 G A 19: 40,328,491 (GRCm39) Q595* probably null Het
Spata21 T A 4: 140,824,432 (GRCm39) probably null Het
Ss18l1 G T 2: 179,705,192 (GRCm39) probably null Het
Tmem163 A T 1: 127,447,107 (GRCm39) L176H probably damaging Het
Tpd52 T C 3: 9,009,668 (GRCm39) probably null Het
Tpsab1 T A 17: 25,562,436 (GRCm39) Y297F possibly damaging Het
Trim55 A G 3: 19,728,538 (GRCm39) T450A probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Txndc11 A T 16: 10,906,398 (GRCm39) H377Q probably benign Het
Usp17la A G 7: 104,510,355 (GRCm39) Y320C probably damaging Het
Vmn2r109 T C 17: 20,770,348 (GRCm39) N547D probably damaging Het
Vmn2r54 A T 7: 12,350,150 (GRCm39) probably null Het
Wdr33 T C 18: 32,040,046 (GRCm39) *1331Q probably null Het
Wdr90 T A 17: 26,079,624 (GRCm39) probably benign Het
Xpo7 T C 14: 70,908,069 (GRCm39) M903V probably benign Het
Zfhx3 T A 8: 109,519,986 (GRCm39) S369R probably damaging Het
Zfp808 T C 13: 62,319,287 (GRCm39) F172S possibly damaging Het
Zfp821 A G 8: 110,450,625 (GRCm39) E55G probably benign Het
Zfp964 T C 8: 70,115,972 (GRCm39) Y191H possibly damaging Het
Zfyve1 T C 12: 83,621,646 (GRCm39) T250A 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
R4817:Nckap5 UTSW 1 125,954,952 (GRCm39) missense possibly damaging 0.68
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'- TGAAGGACAAGTCTTGGGTG -3'
(R):5'- AGGGAGATCAGTGTCACTCC -3'

Sequencing Primer
(F):5'- CCATGTGGGCAGTTCCTAG -3'
(R):5'- AGATCAGTGTCACTCCTGGTTAGAC -3'
Posted On 2016-04-15