Incidental Mutation 'R4133:Nckap5'
ID 314724
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 041637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4133 (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 126150443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 162 (V162A)
Ref Sequence ENSEMBL: ENSMUSP00000123936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000112583] [ENSMUST00000161954] [ENSMUST00000162646] [ENSMUST00000162877]
AlphaFold E9QAE1
Predicted Effect probably benign
Transcript: ENSMUST00000057846
AA Change: V94A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: V94A

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 unknown
Transcript: ENSMUST00000094609
AA Change: V162A
SMART Domains Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690
AA Change: V162A

DomainStartEndE-ValueType
low complexity region 70 93 N/A INTRINSIC
Pfam:NCKAP5 113 364 3.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112583
AA Change: V162A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: V162A

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 probably benign
Transcript: ENSMUST00000161954
AA Change: V94A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: V94A

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: ENSMUST00000162646
AA Change: V162A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123936
Gene: ENSMUSG00000049690
AA Change: V162A

DomainStartEndE-ValueType
low complexity region 70 93 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162877
AA Change: V94A
SMART Domains Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690
AA Change: V94A

DomainStartEndE-ValueType
Pfam:NCKAP5 9 296 6e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (77/79)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700036A12Rik T A 9: 60,677,280 (GRCm39) noncoding transcript Het
Aldh3b1 A G 19: 3,970,808 (GRCm39) I184T probably damaging Het
Arhgap42 C T 9: 9,011,300 (GRCm39) probably benign Het
Arhgef4 A G 1: 34,845,185 (GRCm39) D1463G probably damaging Het
Arpc5 A G 1: 152,644,622 (GRCm39) T52A probably benign Het
Asb6 A G 2: 30,718,247 (GRCm39) probably benign Het
Ash1l T C 3: 88,889,567 (GRCm39) V482A probably benign Het
Bop1 T C 15: 76,338,535 (GRCm39) N469S probably benign Het
Btaf1 T A 19: 36,939,138 (GRCm39) N266K probably benign Het
Btla T C 16: 45,059,661 (GRCm39) Y122H probably damaging Het
Cacna1g A G 11: 94,323,370 (GRCm39) M1278T probably damaging Het
Cdc42bpb A G 12: 111,287,976 (GRCm39) S524P probably benign Het
Cep78 A G 19: 15,946,519 (GRCm39) S438P probably damaging Het
Clca4a T G 3: 144,675,113 (GRCm39) E171D probably benign Het
Cldn6 A T 17: 23,900,467 (GRCm39) I144F probably damaging Het
Cpd G A 11: 76,705,644 (GRCm39) Q363* probably null Het
Cpn1 G A 19: 43,974,723 (GRCm39) P2L possibly damaging Het
Ddx31 A G 2: 28,748,864 (GRCm39) D264G probably damaging Het
Ddx39b C T 17: 35,472,065 (GRCm39) S368L probably damaging Het
Ddx60 A G 8: 62,425,254 (GRCm39) K681E probably damaging Het
Dennd1c A C 17: 57,383,980 (GRCm39) W15G possibly damaging Het
Dgkd T G 1: 87,869,223 (GRCm39) probably null Het
Dnah7c G T 1: 46,705,150 (GRCm39) A2388S probably benign Het
Etv4 C A 11: 101,661,324 (GRCm39) K442N probably damaging Het
Fam234a T C 17: 26,432,532 (GRCm39) D539G probably damaging Het
Fancm A G 12: 65,167,304 (GRCm39) T1538A probably benign Het
Fbn2 A T 18: 58,229,034 (GRCm39) N725K possibly damaging Het
Fcer2a T A 8: 3,741,130 (GRCm39) N4I possibly damaging Het
Fgd5 T C 6: 92,046,418 (GRCm39) V1229A probably damaging Het
Garin4 A T 1: 190,895,205 (GRCm39) N479K probably benign Het
Gm5471 A T 15: 44,835,297 (GRCm39) noncoding transcript Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm6729 C A 10: 86,377,030 (GRCm39) noncoding transcript Het
Hectd4 G T 5: 121,415,897 (GRCm39) probably null Het
Hspb3 A C 13: 113,800,027 (GRCm39) M1R probably null Het
Igkv10-95 T C 6: 68,657,601 (GRCm39) V19A probably damaging Het
Il1rap A G 16: 26,541,636 (GRCm39) S626G probably benign Het
Ints9 A G 14: 65,228,003 (GRCm39) H103R probably benign Het
Itga4 T A 2: 79,152,996 (GRCm39) D894E probably damaging Het
Khsrp T C 17: 57,332,605 (GRCm39) H225R probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lama1 A T 17: 68,119,481 (GRCm39) I2653F probably damaging Het
Map4k5 A T 12: 69,892,497 (GRCm39) L144Q probably damaging Het
Mcm5 A G 8: 75,842,482 (GRCm39) Y252C probably damaging Het
Mmgt2 A G 11: 62,555,877 (GRCm39) E75G probably damaging Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Nr3c2 T C 8: 77,636,378 (GRCm39) I493T probably damaging Het
Or2ag16 A C 7: 106,352,286 (GRCm39) L103R probably damaging Het
Or2t46 A T 11: 58,471,901 (GRCm39) Y77F probably damaging Het
Or9s15 T C 1: 92,524,465 (GRCm39) F75L probably benign Het
Papola A G 12: 105,765,917 (GRCm39) T6A possibly damaging Het
Ppp1cc G A 5: 122,306,289 (GRCm39) R36Q probably benign Het
Ptpro G T 6: 137,397,370 (GRCm39) W81C probably damaging Het
Rasgrf2 A G 13: 92,130,773 (GRCm39) S162P possibly damaging Het
Rpusd2 T C 2: 118,869,196 (GRCm39) S540P probably damaging Het
Scn5a T A 9: 119,315,438 (GRCm39) T1757S probably damaging Het
Setbp1 T C 18: 78,900,206 (GRCm39) I1154V probably benign Het
Sirt1 T C 10: 63,171,438 (GRCm39) I209V probably null Het
Slco6c1 T A 1: 97,009,218 (GRCm39) I406L probably benign Het
Smc2 A G 4: 52,450,947 (GRCm39) E255G probably damaging Het
Snap91 C A 9: 86,659,102 (GRCm39) G477V probably damaging Het
Speg A G 1: 75,404,548 (GRCm39) Q2780R probably benign Het
Spmap2 T C 10: 79,415,884 (GRCm39) T236A probably damaging Het
Ssh2 A G 11: 77,312,095 (GRCm39) Y196C probably damaging Het
Ssxb9 A T X: 8,235,845 (GRCm39) T18S probably damaging Het
Stxbp5l T C 16: 37,028,481 (GRCm39) I527M possibly damaging Het
Tex10 T C 4: 48,468,968 (GRCm39) Y69C probably damaging Het
Thoc3 T C 13: 54,616,361 (GRCm39) D87G probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trps1 T C 15: 50,694,783 (GRCm39) K213R probably damaging Het
Uggt1 A T 1: 36,197,240 (GRCm39) L1221Q probably damaging Het
Vmn2r3 T A 3: 64,183,138 (GRCm39) Y187F probably damaging Het
Washc2 G A 6: 116,235,891 (GRCm39) E1121K probably damaging Het
Zfx T C X: 93,124,464 (GRCm39) N360D probably damaging Het
Znhit3 A G 11: 84,807,139 (GRCm39) V10A probably benign 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
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'- CCGACTGGTGACTGTATCAG -3'
(R):5'- TAAGCACTGCTCACCTTGC -3'

Sequencing Primer
(F):5'- CTGTATCAGTCTGGGAGAACTAAG -3'
(R):5'- TCAGGAAGGACTACCTGA -3'
Posted On 2015-05-14