Incidental Mutation 'R7208:Nckap1'
ID 560843
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 045285-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7208 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 80330856-80411526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80370542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 383 (F383L)
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: F377L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: F377L

DomainStartEndE-ValueType
Pfam:Nckap1 8 1124 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111760
AA Change: F383L

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: F383L

DomainStartEndE-ValueType
Pfam:Nckap1 9 1128 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (76/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,629 (GRCm39) K854E probably damaging Het
Abcd2 G T 15: 91,074,885 (GRCm39) Y309* probably null Het
Ache G A 5: 137,289,751 (GRCm39) G360D probably damaging Het
Acot12 T C 13: 91,929,361 (GRCm39) L396P probably benign Het
Acox2 T G 14: 8,241,303 (GRCm38) D603A probably benign Het
Adam3 C A 8: 25,201,417 (GRCm39) K245N probably damaging Het
Ankhd1 T C 18: 36,758,081 (GRCm39) I925T probably benign Het
Arhgap27 C T 11: 103,251,585 (GRCm39) V48M probably damaging Het
Atm A T 9: 53,423,308 (GRCm39) probably null Het
B4galt4 T A 16: 38,574,302 (GRCm39) F92Y probably damaging Het
Brwd1 C T 16: 95,837,159 (GRCm39) R891Q probably damaging Het
Calcr T C 6: 3,687,612 (GRCm39) Q462R probably benign Het
Ccdc112 T C 18: 46,420,698 (GRCm39) R351G probably damaging Het
Ccdc80 T G 16: 44,917,073 (GRCm39) S610A probably benign Het
Cdh20 C A 1: 104,881,796 (GRCm39) N420K possibly damaging Het
Cntn3 G A 6: 102,255,383 (GRCm39) R172* probably null Het
Ctnnd1 G T 2: 84,452,390 (GRCm39) Q78K possibly damaging Het
D16Ertd472e A T 16: 78,372,814 (GRCm39) L41H probably damaging Het
Dclk2 A T 3: 86,706,909 (GRCm39) probably null Het
Dmwd C T 7: 18,814,234 (GRCm39) H295Y probably benign Het
Dnai2 T C 11: 114,647,988 (GRCm39) V588A unknown Het
Dnai4 T G 4: 102,923,549 (GRCm39) I427L probably benign Het
Dtx4 C T 19: 12,459,437 (GRCm39) probably null Het
Dync2h1 C A 9: 7,141,059 (GRCm39) D1323Y probably damaging Het
Fcgbp T A 7: 27,803,446 (GRCm39) H1683Q probably benign Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Gm9195 A G 14: 72,689,192 (GRCm39) S1876P possibly damaging Het
Grhl2 A C 15: 37,335,980 (GRCm39) K431T probably damaging Het
Grm7 T G 6: 111,335,530 (GRCm39) I647S possibly damaging Het
Gtf2ird1 T C 5: 134,439,948 (GRCm39) N94S probably benign Het
Gvin2 A C 7: 105,551,386 (GRCm39) S555R possibly damaging Het
Hmgcs1 G T 13: 120,162,620 (GRCm39) G195W probably damaging Het
Hrc A T 7: 44,985,989 (GRCm39) Y380F possibly damaging Het
Kcnu1 C T 8: 26,409,665 (GRCm39) Q863* probably null Het
Lemd2 G A 17: 27,415,165 (GRCm39) P300L probably damaging Het
Lnpep A T 17: 17,773,172 (GRCm39) Y665* probably null Het
Lrfn1 A G 7: 28,166,564 (GRCm39) T653A probably benign Het
Ly6g6c A G 17: 35,286,387 (GRCm39) T8A unknown Het
Mcm5 T C 8: 75,848,344 (GRCm39) probably null Het
Med28 A T 5: 45,680,794 (GRCm39) D86V probably damaging Het
Mup11 A G 4: 60,615,725 (GRCm39) S171P possibly damaging Het
Nid1 G C 13: 13,642,970 (GRCm39) G303R probably benign Het
Nkain3 A G 4: 20,282,892 (GRCm39) V147A probably benign Het
Or12k8 A G 2: 36,975,670 (GRCm39) V30A probably benign Het
Pde9a G A 17: 31,639,258 (GRCm39) V63I possibly damaging Het
Pdlim2 T A 14: 70,411,826 (GRCm39) I69F probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phf20l1 T C 15: 66,476,638 (GRCm39) I245T probably benign Het
Prmt8 C T 6: 127,666,792 (GRCm39) R394H possibly damaging Het
Prorp A G 12: 55,355,430 (GRCm39) probably null Het
Prpf4b T A 13: 35,067,994 (GRCm39) D274E unknown Het
Psmd6 A T 14: 14,112,225 (GRCm38) probably null Het
Rgs16 T C 1: 153,617,416 (GRCm39) L69P probably damaging Het
Robo3 A T 9: 37,336,020 (GRCm39) I482N probably damaging Het
Scara3 C T 14: 66,168,715 (GRCm39) V301I possibly damaging Het
Serpina1b T A 12: 103,694,553 (GRCm39) H397L probably benign Het
Skint11 T A 4: 114,088,944 (GRCm39) L246Q probably damaging Het
Skint5 T A 4: 113,396,536 (GRCm39) R1212S unknown Het
Slc11a2 T C 15: 100,300,213 (GRCm39) D348G probably benign Het
Slc15a2 T C 16: 36,576,643 (GRCm39) K495E probably benign Het
Son T G 16: 91,458,990 (GRCm39) D2072E unknown Het
Stau1 A G 2: 166,805,494 (GRCm39) V34A probably damaging Het
Stk3 G T 15: 35,073,262 (GRCm39) L153I possibly damaging Het
Swi5 A T 2: 32,177,922 (GRCm39) V13E probably benign Het
Syne2 A T 12: 76,078,172 (GRCm39) probably null Het
Synm T C 7: 67,384,663 (GRCm39) M558V probably benign Het
Tep1 T A 14: 51,062,013 (GRCm39) probably null Het
Tmc6 A G 11: 117,667,151 (GRCm39) V149A probably benign Het
Tmem214 T A 5: 31,028,065 (GRCm39) V95E possibly damaging Het
Tnnt2 T A 1: 135,778,114 (GRCm39) probably null Het
Txlna A G 4: 129,525,071 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,038,948 (GRCm39) I841T probably damaging Het
Wasf2 G A 4: 132,923,045 (GRCm39) V452I probably damaging Het
Wdr62 C T 7: 29,951,761 (GRCm39) D673N probably damaging Het
Wdr95 C T 5: 149,518,836 (GRCm39) T559I probably benign Het
Zbtb40 A T 4: 136,726,937 (GRCm39) probably null Het
Zfat T C 15: 68,051,856 (GRCm39) E646G probably benign 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
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
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'- GGCTATATTGCCCAGATGTATTCC -3'
(R):5'- CATTTGCTGGCTTGAGGCTC -3'

Sequencing Primer
(F):5'- GAACCCCAAAGAGTTTTTAAAACAC -3'
(R):5'- TTGAGGCTCGCATCACAC -3'
Posted On 2019-06-26