Incidental Mutation 'R1127:Nckap1'
ID 96256
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 039200-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1127 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 80330856-80411526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80348286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 889 (S889N)
Ref Sequence ENSEMBL: ENSMUSP00000107390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028386] [ENSMUST00000111760]
AlphaFold P28660
Predicted Effect probably benign
Transcript: ENSMUST00000028386
AA Change: S883N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: S883N

DomainStartEndE-ValueType
Pfam:Nckap1 8 1124 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111760
AA Change: S889N

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: S889N

DomainStartEndE-ValueType
Pfam:Nckap1 9 1128 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154793
Meta Mutation Damage Score 0.0872 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A probably 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
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
R6937:Nckap1 UTSW 2 80,339,060 (GRCm39) missense probably damaging 1.00
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'- GGAGTAGATGTACACTGGAAAGACCCT -3'
(R):5'- GGTCACAAAACCTCTTGGAACTTGACA -3'

Sequencing Primer
(F):5'- GTACACTGGAAAGACCCTGTGAC -3'
(R):5'- AGAACAAAGATCCGTGCCTG -3'
Posted On 2014-01-05