Incidental Mutation 'R6249:Nckap5'
ID 505824
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125952667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1295 (E1295G)
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: E1231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: E1231G

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: E1363G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: E1363G

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: E1295G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: E1295G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,702,505 (GRCm39) S90C probably damaging Het
Abca9 T C 11: 110,036,453 (GRCm39) D552G probably benign Het
Adgrb3 A G 1: 25,471,639 (GRCm39) L502P probably damaging Het
Agmo T C 12: 37,293,837 (GRCm39) probably null Het
Ank3 A G 10: 69,658,906 (GRCm39) probably null Het
Apol11b G T 15: 77,519,537 (GRCm39) T181K probably benign Het
Arap2 G T 5: 62,803,536 (GRCm39) H1244N probably damaging Het
Arid1b A T 17: 5,329,636 (GRCm39) M838L possibly damaging Het
Aste1 G A 9: 105,273,816 (GRCm39) V19I probably benign Het
B3gnt3 A T 8: 72,145,306 (GRCm39) M354K probably damaging Het
Calcr A T 6: 3,692,711 (GRCm39) M381K possibly damaging Het
Ccdc63 A C 5: 122,263,062 (GRCm39) L160W probably benign Het
Cerkl A G 2: 79,199,122 (GRCm39) L156P probably damaging Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddb1 C A 19: 10,583,084 (GRCm39) Y5* probably null Het
Fignl2 T C 15: 100,952,060 (GRCm39) E74G possibly damaging Het
Glb1l2 C T 9: 26,676,850 (GRCm39) probably benign Het
Gm16503 A G 4: 147,625,508 (GRCm39) M1V probably null Het
Gm2696 A C 10: 77,630,646 (GRCm39) probably benign Het
Gm45844 A G 7: 7,243,092 (GRCm39) S20P probably benign Het
Gm7579 C T 7: 141,765,743 (GRCm39) P50S unknown Het
Idh1 A G 1: 65,205,378 (GRCm39) S196P probably damaging Het
Il1rap T C 16: 26,511,598 (GRCm39) V214A possibly damaging Het
Kctd17 C G 15: 78,314,239 (GRCm39) probably null Het
Lama1 G T 17: 68,105,599 (GRCm39) V2036L probably benign Het
Lars1 G T 18: 42,390,271 (GRCm39) probably null Het
Mdn1 T A 4: 32,708,484 (GRCm39) V1670E possibly damaging Het
Mtmr7 A T 8: 41,034,524 (GRCm39) I266N probably damaging Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 26,999,349 (GRCm39) probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Or13p3 A G 4: 118,566,910 (GRCm39) Y102C probably damaging Het
Or2a5 G T 6: 42,874,238 (GRCm39) L284F probably damaging Het
Or2aj4 T A 16: 19,384,725 (GRCm39) N303Y probably damaging Het
Or51q1 A T 7: 103,628,818 (GRCm39) S140C possibly damaging Het
Or5h22 T C 16: 58,894,795 (GRCm39) Y216C probably damaging Het
Or8b44 T G 9: 38,410,880 (GRCm39) I305R unknown Het
Pcdha4 T A 18: 37,086,729 (GRCm39) V304E probably damaging Het
Pde6c T C 19: 38,147,008 (GRCm39) probably null Het
Pebp4 A T 14: 70,297,099 (GRCm39) T213S possibly damaging Het
Phf2 C A 13: 48,959,348 (GRCm39) R886L unknown Het
Pik3ca A T 3: 32,515,712 (GRCm39) H795L probably damaging Het
Pisd G T 5: 32,896,188 (GRCm39) T379N probably damaging Het
Pld2 T C 11: 70,446,196 (GRCm39) L732P probably damaging Het
Pskh1 A G 8: 106,639,617 (GRCm39) D99G possibly damaging Het
Rest A G 5: 77,429,071 (GRCm39) T497A probably benign Het
Rps24 C T 14: 24,543,530 (GRCm39) T108M possibly damaging Het
Rtel1 C T 2: 180,993,475 (GRCm39) R566C probably damaging Het
Scyl2 A G 10: 89,493,719 (GRCm39) S350P possibly damaging Het
Slc38a7 G T 8: 96,564,302 (GRCm39) probably null Het
Sox5 A G 6: 143,779,009 (GRCm39) I674T probably benign Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
Surf4 C A 2: 26,816,899 (GRCm39) E39D probably damaging Het
Tas2r144 T A 6: 42,192,291 (GRCm39) Y10* probably null Het
Thbs4 C T 13: 92,911,215 (GRCm39) G323R probably damaging Het
Top2b A G 14: 16,399,006 (GRCm38) Y542C probably damaging Het
Trim61 A G 8: 65,467,108 (GRCm39) V51A probably benign Het
Tyrp1 T A 4: 80,769,009 (GRCm39) I501N possibly damaging Het
U2surp C T 9: 95,382,869 (GRCm39) D32N probably benign Het
Ush1c T C 7: 45,864,383 (GRCm39) Y411C probably damaging Het
Vwa7 G A 17: 35,242,365 (GRCm39) V490I probably benign Het
Xylt1 G T 7: 117,266,528 (GRCm39) A849S probably benign Het
Ythdc1 T A 5: 86,979,815 (GRCm39) N599K possibly damaging Het
Zbtb38 T A 9: 96,568,045 (GRCm39) Y1013F probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zswim9 T C 7: 12,994,903 (GRCm39) S418G 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
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
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'- GTCCCAGTTGAAGAAGCATCTG -3'
(R):5'- TATCTCAATGGAAGGGTCCCC -3'

Sequencing Primer
(F):5'- GGATGCCTTCCAGAAGTTTCTAGC -3'
(R):5'- CTGATAATCTGCCCAATGCTGGAAG -3'
Posted On 2018-02-28