Incidental Mutation 'R6937:Nckap1'
ID 540329
Institutional Source Beutler Lab
Gene Symbol Nckap1
Ensembl Gene ENSMUSG00000027002
Gene Name NCK-associated protein 1
Synonyms Hem-2, Hem2, Nap1, H19, mh19
MMRRC Submission 045051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6937 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 80330856-80411526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80339060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 989 (K989N)
Ref Sequence ENSEMBL: ENSMUSP00000107390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028386] [ENSMUST00000111760]
AlphaFold P28660
Predicted Effect probably damaging
Transcript: ENSMUST00000028386
AA Change: K983N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: K983N

DomainStartEndE-ValueType
Pfam:Nckap1 8 1124 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111760
AA Change: K989N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: K989N

DomainStartEndE-ValueType
Pfam:Nckap1 9 1128 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (42/43)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene exhibit growth arrest at midgestation, an open neural tube, cardia bifida, defective foregut development, defects in endoderm and mesoderm migration and sometimes duplication of the anteroposterior body axis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 T C 10: 128,222,889 (GRCm39) V613A probably benign Het
Cdh23 A T 10: 60,322,893 (GRCm39) L337Q probably damaging Het
Chrna6 A G 8: 27,897,055 (GRCm39) L274P probably damaging Het
Ciita G A 16: 10,330,355 (GRCm39) probably null Het
Csnka2ip A T 16: 64,299,058 (GRCm39) probably benign Het
Ddx60 G A 8: 62,490,103 (GRCm39) D1691N probably damaging Het
Dnah7b T C 1: 46,234,280 (GRCm39) I1441T probably damaging Het
Dock4 T C 12: 40,884,634 (GRCm39) S1713P probably benign Het
Ep400 T C 5: 110,859,018 (GRCm39) probably benign Het
Epn1 T C 7: 5,092,943 (GRCm39) I85T probably damaging Het
Eri2 T C 7: 119,386,012 (GRCm39) K228E probably damaging Het
Garem1 C T 18: 21,280,827 (GRCm39) A510T probably benign Het
Gfm2 T A 13: 97,299,572 (GRCm39) probably null Het
Hnrnpd T C 5: 100,111,629 (GRCm39) T321A probably benign Het
Htr2a A T 14: 74,882,604 (GRCm39) I197F probably damaging Het
Krtap2-4 T A 11: 99,505,299 (GRCm39) probably benign Het
Lcn3 C A 2: 25,657,823 (GRCm39) Y179* probably null Het
Mak A T 13: 41,201,578 (GRCm39) M261K probably damaging Het
Marchf7 A G 2: 60,071,310 (GRCm39) T605A probably damaging Het
Mcm4 A C 16: 15,454,199 (GRCm39) F83V probably benign Het
Myo18b T C 5: 112,950,258 (GRCm39) N1546S probably benign Het
Ndufaf5 A G 2: 140,023,522 (GRCm39) D119G probably damaging Het
Or7g28 A T 9: 19,271,985 (GRCm39) V222D probably damaging Het
Pcdh1 T C 18: 38,336,528 (GRCm39) T36A possibly damaging Het
Pitpna C T 11: 75,494,557 (GRCm39) T100I possibly damaging Het
Pmf1 A T 3: 88,306,496 (GRCm39) L102Q probably damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Robo3 A G 9: 37,341,176 (GRCm39) L10P probably benign Het
Serpinb6a T C 13: 34,102,801 (GRCm39) I241V possibly damaging Het
St14 A T 9: 31,040,956 (GRCm39) probably null Het
Stat6 T C 10: 127,494,571 (GRCm39) probably null Het
Tdpoz6 T C 3: 93,599,523 (GRCm39) N282S probably benign Het
Tdpoz8 A G 3: 92,981,417 (GRCm39) H145R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tgfbrap1 A T 1: 43,091,064 (GRCm39) V687E probably damaging Het
Trim30d A T 7: 104,132,634 (GRCm39) S68T probably damaging Het
Ttn A G 2: 76,663,253 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,292,158 (GRCm39) D97V probably benign Het
Ugt8a G A 3: 125,709,250 (GRCm39) probably benign Het
Vmn1r184 A T 7: 25,966,750 (GRCm39) K165N probably benign Het
Vmn2r86 T A 10: 130,284,523 (GRCm39) I523F probably damaging Het
Wapl G A 14: 34,444,311 (GRCm39) V588I probably benign Het
Wdr7 C T 18: 63,924,938 (GRCm39) P974S probably benign Het
Zfp975 T C 7: 42,314,480 (GRCm39) D31G possibly damaging Het
Other mutations in Nckap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Nckap1 APN 2 80,336,546 (GRCm39) missense possibly damaging 0.87
IGL00896:Nckap1 APN 2 80,411,297 (GRCm39) missense possibly damaging 0.59
IGL01343:Nckap1 APN 2 80,350,186 (GRCm39) missense possibly damaging 0.81
IGL01593:Nckap1 APN 2 80,350,914 (GRCm39) missense probably benign 0.06
IGL01677:Nckap1 APN 2 80,360,641 (GRCm39) missense probably benign 0.04
IGL01873:Nckap1 APN 2 80,383,729 (GRCm39) missense possibly damaging 0.95
IGL01874:Nckap1 APN 2 80,355,980 (GRCm39) missense probably damaging 1.00
IGL01947:Nckap1 APN 2 80,339,097 (GRCm39) missense probably damaging 1.00
IGL02268:Nckap1 APN 2 80,358,962 (GRCm39) missense probably benign 0.16
IGL02348:Nckap1 APN 2 80,348,326 (GRCm39) missense probably damaging 1.00
IGL03349:Nckap1 APN 2 80,355,904 (GRCm39) missense probably benign 0.07
PIT4151001:Nckap1 UTSW 2 80,350,714 (GRCm39) critical splice donor site probably null
R0326:Nckap1 UTSW 2 80,383,714 (GRCm39) missense probably benign 0.41
R0345:Nckap1 UTSW 2 80,375,321 (GRCm39) splice site probably benign
R0520:Nckap1 UTSW 2 80,371,874 (GRCm39) splice site probably benign
R0603:Nckap1 UTSW 2 80,343,073 (GRCm39) missense probably benign 0.19
R0924:Nckap1 UTSW 2 80,384,593 (GRCm39) missense probably benign 0.34
R0930:Nckap1 UTSW 2 80,384,593 (GRCm39) missense probably benign 0.34
R0964:Nckap1 UTSW 2 80,378,243 (GRCm39) critical splice donor site probably null
R1122:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1123:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1124:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1125:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1127:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1182:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1234:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1236:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1384:Nckap1 UTSW 2 80,364,014 (GRCm39) missense possibly damaging 0.90
R1402:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1402:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1511:Nckap1 UTSW 2 80,383,759 (GRCm39) missense probably damaging 0.99
R1677:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1686:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1687:Nckap1 UTSW 2 80,350,929 (GRCm39) missense probably damaging 0.96
R1717:Nckap1 UTSW 2 80,343,014 (GRCm39) splice site probably benign
R1789:Nckap1 UTSW 2 80,350,900 (GRCm39) missense probably benign 0.44
R1822:Nckap1 UTSW 2 80,348,242 (GRCm39) missense possibly damaging 0.58
R1840:Nckap1 UTSW 2 80,332,594 (GRCm39) missense possibly damaging 0.88
R1926:Nckap1 UTSW 2 80,337,182 (GRCm39) missense probably damaging 1.00
R1968:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R1970:Nckap1 UTSW 2 80,348,286 (GRCm39) missense probably benign 0.12
R2027:Nckap1 UTSW 2 80,365,862 (GRCm39) missense probably damaging 1.00
R2063:Nckap1 UTSW 2 80,400,494 (GRCm39) missense probably damaging 1.00
R2504:Nckap1 UTSW 2 80,360,562 (GRCm39) missense probably benign 0.40
R3824:Nckap1 UTSW 2 80,370,904 (GRCm39) missense possibly damaging 0.72
R4784:Nckap1 UTSW 2 80,337,278 (GRCm39) missense probably benign 0.15
R4908:Nckap1 UTSW 2 80,353,718 (GRCm39) critical splice donor site probably null
R5077:Nckap1 UTSW 2 80,379,277 (GRCm39) missense probably damaging 0.99
R5311:Nckap1 UTSW 2 80,370,466 (GRCm39) missense probably damaging 1.00
R5439:Nckap1 UTSW 2 80,343,034 (GRCm39) missense possibly damaging 0.81
R6141:Nckap1 UTSW 2 80,360,551 (GRCm39) missense probably damaging 1.00
R6209:Nckap1 UTSW 2 80,355,946 (GRCm39) missense probably damaging 1.00
R6226:Nckap1 UTSW 2 80,339,125 (GRCm39) missense possibly damaging 0.96
R6294:Nckap1 UTSW 2 80,371,858 (GRCm39) missense probably benign 0.03
R6458:Nckap1 UTSW 2 80,342,893 (GRCm39) splice site probably null
R6986:Nckap1 UTSW 2 80,350,911 (GRCm39) missense probably benign 0.03
R7180:Nckap1 UTSW 2 80,337,236 (GRCm39) missense probably benign 0.01
R7208:Nckap1 UTSW 2 80,370,542 (GRCm39) missense probably benign 0.24
R7363:Nckap1 UTSW 2 80,370,512 (GRCm39) missense probably damaging 1.00
R7448:Nckap1 UTSW 2 80,354,885 (GRCm39) missense probably damaging 1.00
R7513:Nckap1 UTSW 2 80,332,635 (GRCm39) missense possibly damaging 0.81
R7806:Nckap1 UTSW 2 80,371,843 (GRCm39) missense probably damaging 0.98
R8143:Nckap1 UTSW 2 80,336,530 (GRCm39) missense possibly damaging 0.93
R8270:Nckap1 UTSW 2 80,355,008 (GRCm39) missense possibly damaging 0.82
R8775:Nckap1 UTSW 2 80,375,410 (GRCm39) missense probably benign 0.00
R8775-TAIL:Nckap1 UTSW 2 80,375,410 (GRCm39) missense probably benign 0.00
R8886:Nckap1 UTSW 2 80,339,055 (GRCm39) critical splice donor site probably null
R8913:Nckap1 UTSW 2 80,401,564 (GRCm39) missense possibly damaging 0.51
R9080:Nckap1 UTSW 2 80,350,726 (GRCm39) missense probably damaging 1.00
R9287:Nckap1 UTSW 2 80,383,750 (GRCm39) missense possibly damaging 0.68
R9722:Nckap1 UTSW 2 80,401,568 (GRCm39) nonsense probably null
R9749:Nckap1 UTSW 2 80,401,568 (GRCm39) nonsense probably null
Z1176:Nckap1 UTSW 2 80,370,852 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GACAGGATGTAATGACTAAGCTATAGC -3'
(R):5'- TAGTAGGTTCGTGGGCAGAC -3'

Sequencing Primer
(F):5'- ATGACTAAGCTATAGCAAAAACTCC -3'
(R):5'- GACTGATGGACACCATAGACATTTTC -3'
Posted On 2018-11-06