Incidental Mutation 'IGL01912:Nckap1l'
ID 179830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nckap1l
Ensembl Gene ENSMUSG00000022488
Gene Name NCK associated protein 1 like
Synonyms Hem1, 4930568P13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # IGL01912
Quality Score
Status
Chromosome 15
Chromosomal Location 103362221-103407237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103382573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 525 (L525M)
Ref Sequence ENSEMBL: ENSMUSP00000035400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047405] [ENSMUST00000229127]
AlphaFold Q8K1X4
Predicted Effect probably benign
Transcript: ENSMUST00000047405
AA Change: L525M

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: L525M

DomainStartEndE-ValueType
Pfam:Nckap1 7 1123 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229835
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 45,769,934 (GRCm39) D860E probably damaging Het
Actl11 C A 9: 107,806,844 (GRCm39) P389Q probably damaging Het
Bsg G T 10: 79,545,974 (GRCm39) G103W probably null Het
Camk2d T A 3: 126,604,281 (GRCm39) probably null Het
Clcn7 T C 17: 25,371,983 (GRCm39) probably benign Het
Dctd C T 8: 48,564,697 (GRCm39) probably benign Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Esyt2 T C 12: 116,303,229 (GRCm39) I289T probably damaging Het
Exoc6b A C 6: 84,602,156 (GRCm39) C753G probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3633 T C 14: 42,462,743 (GRCm39) probably benign Het
Hrh3 A T 2: 179,743,169 (GRCm39) V153D probably damaging Het
Krt77 T A 15: 101,772,286 (GRCm39) probably benign Het
Nat3 T A 8: 68,000,398 (GRCm39) C92* probably null Het
Nrp2 T A 1: 62,810,896 (GRCm39) C646S probably damaging Het
Or10a3m T C 7: 108,313,465 (GRCm39) Y290H possibly damaging Het
Or2ag16 T A 7: 106,352,199 (GRCm39) Y132F probably damaging Het
Or52n20 T C 7: 104,320,440 (GRCm39) I177T possibly damaging Het
Orc1 T C 4: 108,447,941 (GRCm39) Y63H probably damaging Het
Otud4 T C 8: 80,400,466 (GRCm39) V1059A probably benign Het
Ptprm A G 17: 67,353,113 (GRCm39) V235A probably benign Het
Rab3ip G T 10: 116,742,997 (GRCm39) Q443K probably benign Het
Tnc C A 4: 63,926,977 (GRCm39) D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 (GRCm39) probably null Het
Vmn1r233 T A 17: 21,214,467 (GRCm39) Y161F probably benign Het
Vmn1r54 T C 6: 90,246,442 (GRCm39) S119P probably damaging Het
Other mutations in Nckap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Nckap1l APN 15 103,371,147 (GRCm39) missense probably benign 0.42
IGL01818:Nckap1l APN 15 103,386,709 (GRCm39) missense probably damaging 1.00
IGL01945:Nckap1l APN 15 103,370,069 (GRCm39) missense probably damaging 1.00
IGL01947:Nckap1l APN 15 103,399,442 (GRCm39) missense probably benign 0.32
IGL02218:Nckap1l APN 15 103,391,954 (GRCm39) missense possibly damaging 0.47
IGL02317:Nckap1l APN 15 103,370,005 (GRCm39) missense probably benign 0.05
IGL02376:Nckap1l APN 15 103,379,658 (GRCm39) missense possibly damaging 0.95
IGL03263:Nckap1l APN 15 103,372,832 (GRCm39) missense probably damaging 1.00
hem-haw UTSW 15 103,379,659 (GRCm39) nonsense probably null
Sinstral UTSW 15 103,392,040 (GRCm39) missense probably benign
stammer UTSW 15 103,382,248 (GRCm39) missense possibly damaging 0.79
stutter UTSW 15 103,384,526 (GRCm39) critical splice donor site probably null
tentative UTSW 15 103,382,586 (GRCm39) missense probably damaging 0.98
IGL02802:Nckap1l UTSW 15 103,372,963 (GRCm39) missense probably benign 0.03
R0016:Nckap1l UTSW 15 103,384,063 (GRCm39) missense probably benign
R0016:Nckap1l UTSW 15 103,384,063 (GRCm39) missense probably benign
R0114:Nckap1l UTSW 15 103,363,455 (GRCm39) missense probably benign
R0137:Nckap1l UTSW 15 103,390,391 (GRCm39) missense probably benign 0.01
R0375:Nckap1l UTSW 15 103,382,586 (GRCm39) missense probably damaging 0.98
R0390:Nckap1l UTSW 15 103,362,310 (GRCm39) missense probably damaging 1.00
R0412:Nckap1l UTSW 15 103,373,079 (GRCm39) missense probably benign 0.01
R0467:Nckap1l UTSW 15 103,405,854 (GRCm39) missense probably benign 0.02
R1245:Nckap1l UTSW 15 103,364,352 (GRCm39) missense probably damaging 1.00
R1592:Nckap1l UTSW 15 103,390,607 (GRCm39) critical splice donor site probably null
R1593:Nckap1l UTSW 15 103,387,281 (GRCm39) missense probably null 0.00
R1879:Nckap1l UTSW 15 103,373,028 (GRCm39) missense probably benign
R2081:Nckap1l UTSW 15 103,405,881 (GRCm39) missense probably damaging 0.98
R2144:Nckap1l UTSW 15 103,384,103 (GRCm39) missense probably damaging 0.96
R2228:Nckap1l UTSW 15 103,364,361 (GRCm39) critical splice donor site probably null
R2229:Nckap1l UTSW 15 103,364,361 (GRCm39) critical splice donor site probably null
R2411:Nckap1l UTSW 15 103,391,995 (GRCm39) missense probably damaging 1.00
R3965:Nckap1l UTSW 15 103,373,016 (GRCm39) nonsense probably null
R3971:Nckap1l UTSW 15 103,370,987 (GRCm39) missense probably damaging 1.00
R4270:Nckap1l UTSW 15 103,381,549 (GRCm39) missense possibly damaging 0.96
R4348:Nckap1l UTSW 15 103,395,246 (GRCm39) missense probably damaging 0.99
R4351:Nckap1l UTSW 15 103,395,246 (GRCm39) missense probably damaging 0.99
R4748:Nckap1l UTSW 15 103,381,483 (GRCm39) missense probably damaging 1.00
R4918:Nckap1l UTSW 15 103,392,040 (GRCm39) missense probably benign
R5230:Nckap1l UTSW 15 103,392,066 (GRCm39) missense probably benign 0.30
R5595:Nckap1l UTSW 15 103,384,085 (GRCm39) missense possibly damaging 0.57
R5642:Nckap1l UTSW 15 103,363,452 (GRCm39) missense probably benign 0.00
R5701:Nckap1l UTSW 15 103,381,195 (GRCm39) missense probably benign 0.34
R6000:Nckap1l UTSW 15 103,387,242 (GRCm39) missense probably benign 0.07
R6229:Nckap1l UTSW 15 103,381,549 (GRCm39) missense possibly damaging 0.96
R6367:Nckap1l UTSW 15 103,384,149 (GRCm39) missense probably benign 0.00
R6420:Nckap1l UTSW 15 103,399,893 (GRCm39) missense possibly damaging 0.89
R6440:Nckap1l UTSW 15 103,379,659 (GRCm39) nonsense probably null
R6957:Nckap1l UTSW 15 103,399,938 (GRCm39) missense possibly damaging 0.91
R7023:Nckap1l UTSW 15 103,384,493 (GRCm39) missense probably benign 0.11
R7083:Nckap1l UTSW 15 103,390,551 (GRCm39) missense probably damaging 1.00
R7360:Nckap1l UTSW 15 103,384,526 (GRCm39) critical splice donor site probably null
R7361:Nckap1l UTSW 15 103,379,709 (GRCm39) missense possibly damaging 0.79
R7457:Nckap1l UTSW 15 103,362,233 (GRCm39) start gained probably benign
R7582:Nckap1l UTSW 15 103,390,587 (GRCm39) missense probably damaging 1.00
R7662:Nckap1l UTSW 15 103,371,012 (GRCm39) missense probably damaging 0.99
R7699:Nckap1l UTSW 15 103,371,248 (GRCm39) splice site probably null
R7951:Nckap1l UTSW 15 103,381,542 (GRCm39) missense probably damaging 1.00
R8059:Nckap1l UTSW 15 103,401,714 (GRCm39) missense possibly damaging 0.87
R8124:Nckap1l UTSW 15 103,382,248 (GRCm39) missense possibly damaging 0.79
R8152:Nckap1l UTSW 15 103,386,957 (GRCm39) splice site probably null
R8829:Nckap1l UTSW 15 103,387,242 (GRCm39) missense probably benign
R8832:Nckap1l UTSW 15 103,387,242 (GRCm39) missense probably benign
R9294:Nckap1l UTSW 15 103,381,966 (GRCm39) missense probably damaging 1.00
R9338:Nckap1l UTSW 15 103,379,991 (GRCm39) missense probably benign 0.00
R9668:Nckap1l UTSW 15 103,382,277 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07