Incidental Mutation 'IGL02218:Nckap1l'
ID284993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nckap1l
Ensembl Gene ENSMUSG00000022488
Gene NameNCK associated protein 1 like
SynonymsHem1, 4930568P13Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.662) question?
Stock #IGL02218
Quality Score
Status
Chromosome15
Chromosomal Location103453794-103498810 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103483527 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 796 (S796R)
Ref Sequence ENSEMBL: ENSMUSP00000035400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047405] [ENSMUST00000229127]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047405
AA Change: S796R

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: S796R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230276
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,612,045 D122G probably benign Het
Abcc8 T C 7: 46,120,436 D885G probably benign Het
Abcf1 T C 17: 35,958,338 K676R probably benign Het
Acsf2 A G 11: 94,601,763 V3A probably benign Het
Apba2 C T 7: 64,695,677 T205I probably benign Het
Bricd5 C A 17: 24,475,322 Y171* probably null Het
Camk2d T G 3: 126,840,153 N441K probably benign Het
Carm1 T C 9: 21,569,512 V94A probably damaging Het
Chd3 C T 11: 69,352,094 probably benign Het
Cipc A G 12: 86,961,928 N166S probably damaging Het
Cln5 A C 14: 103,075,840 probably null Het
Cnbd1 C A 4: 18,887,739 Q258H probably benign Het
Cyp8b1 A G 9: 121,915,117 L383P probably damaging Het
Dok3 A G 13: 55,523,786 L324P probably damaging Het
Eftud2 A T 11: 102,870,213 F102Y possibly damaging Het
Ewsr1 G A 11: 5,070,668 P551S unknown Het
Fam193a G T 5: 34,443,588 V346L possibly damaging Het
Fam46b C T 4: 133,486,151 A111V probably damaging Het
Golim4 A G 3: 75,878,054 S677P probably damaging Het
Gpr149 A G 3: 62,530,531 probably benign Het
Ins1 A T 19: 52,264,683 K20N probably benign Het
Itpr2 A T 6: 146,240,262 probably benign Het
Jup G A 11: 100,381,839 T249I probably damaging Het
Kctd20 T A 17: 28,957,903 N2K probably benign Het
Kif15 A G 9: 122,995,827 probably benign Het
Klrb1-ps1 T C 6: 129,129,306 noncoding transcript Het
Krtap29-1 T C 11: 99,979,058 probably null Het
Lamb3 A T 1: 193,328,633 probably null Het
Large1 A G 8: 72,912,122 W276R probably damaging Het
Lrp1b T C 2: 41,295,672 N603D probably benign Het
Lrrc37a A G 11: 103,500,381 V1406A probably benign Het
Lrrc74a A G 12: 86,749,048 D265G probably benign Het
Lrrfip2 G A 9: 111,219,725 C250Y probably benign Het
Mbtd1 A G 11: 93,931,803 probably benign Het
Msr1 A G 8: 39,589,316 V406A possibly damaging Het
Mtfr1l C T 4: 134,529,180 D225N probably benign Het
Oaf T A 9: 43,224,922 H119L probably benign Het
Olfr464 A T 11: 87,914,063 M281K probably damaging Het
Pik3c2g A T 6: 139,860,355 H516L probably damaging Het
Pkd1l3 A T 8: 109,660,802 I1793F possibly damaging Het
Ptpra A G 2: 130,552,335 probably benign Het
Slc25a27 C T 17: 43,664,073 probably null Het
Slc2a2 A T 3: 28,698,025 E3D possibly damaging Het
Slc35f5 T C 1: 125,584,555 F14S probably damaging Het
Sspn T C 6: 145,961,386 V105A probably damaging Het
Syvn1 T C 19: 6,050,199 I263T probably damaging Het
Tek A C 4: 94,855,337 D863A probably damaging Het
Tm9sf4 G T 2: 153,204,616 V592F probably benign Het
Tmem259 A G 10: 79,978,317 M354T possibly damaging Het
Ttf2 T C 3: 100,964,093 E84G possibly damaging Het
Ttyh3 T C 5: 140,626,491 E487G probably damaging Het
Ubtf C A 11: 102,306,700 E709* probably null Het
Vmn1r119 T C 7: 21,011,636 R274G probably benign Het
Wdr78 A G 4: 103,096,774 V76A probably damaging Het
Zfp804a A G 2: 82,259,202 Q1125R probably damaging Het
Other mutations in Nckap1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Nckap1l APN 15 103462720 missense probably benign 0.42
IGL01818:Nckap1l APN 15 103478282 missense probably damaging 1.00
IGL01912:Nckap1l APN 15 103474146 missense probably benign 0.15
IGL01945:Nckap1l APN 15 103461642 missense probably damaging 1.00
IGL01947:Nckap1l APN 15 103491015 missense probably benign 0.32
IGL02317:Nckap1l APN 15 103461578 missense probably benign 0.05
IGL02376:Nckap1l APN 15 103471231 missense possibly damaging 0.95
IGL03263:Nckap1l APN 15 103464405 missense probably damaging 1.00
hem-haw UTSW 15 103471232 nonsense probably null
IGL02802:Nckap1l UTSW 15 103464536 missense probably benign 0.03
R0016:Nckap1l UTSW 15 103475636 missense probably benign
R0016:Nckap1l UTSW 15 103475636 missense probably benign
R0114:Nckap1l UTSW 15 103455028 missense probably benign
R0137:Nckap1l UTSW 15 103481964 missense probably benign 0.01
R0375:Nckap1l UTSW 15 103474159 missense probably damaging 0.98
R0390:Nckap1l UTSW 15 103453883 missense probably damaging 1.00
R0412:Nckap1l UTSW 15 103464652 missense probably benign 0.01
R0467:Nckap1l UTSW 15 103497427 missense probably benign 0.02
R1245:Nckap1l UTSW 15 103455925 missense probably damaging 1.00
R1592:Nckap1l UTSW 15 103482180 critical splice donor site probably null
R1593:Nckap1l UTSW 15 103478854 missense probably null 0.00
R1879:Nckap1l UTSW 15 103464601 missense probably benign
R2081:Nckap1l UTSW 15 103497454 missense probably damaging 0.98
R2144:Nckap1l UTSW 15 103475676 missense probably damaging 0.96
R2228:Nckap1l UTSW 15 103455934 critical splice donor site probably null
R2229:Nckap1l UTSW 15 103455934 critical splice donor site probably null
R2411:Nckap1l UTSW 15 103483568 missense probably damaging 1.00
R3965:Nckap1l UTSW 15 103464589 nonsense probably null
R3971:Nckap1l UTSW 15 103462560 missense probably damaging 1.00
R4270:Nckap1l UTSW 15 103473122 missense possibly damaging 0.96
R4348:Nckap1l UTSW 15 103486819 missense probably damaging 0.99
R4351:Nckap1l UTSW 15 103486819 missense probably damaging 0.99
R4748:Nckap1l UTSW 15 103473056 missense probably damaging 1.00
R4918:Nckap1l UTSW 15 103483613 missense probably benign
R5230:Nckap1l UTSW 15 103483639 missense probably benign 0.30
R5595:Nckap1l UTSW 15 103475658 missense possibly damaging 0.57
R5642:Nckap1l UTSW 15 103455025 missense probably benign 0.00
R5701:Nckap1l UTSW 15 103472768 missense probably benign 0.34
R6000:Nckap1l UTSW 15 103478815 missense probably benign 0.07
R6229:Nckap1l UTSW 15 103473122 missense possibly damaging 0.96
R6367:Nckap1l UTSW 15 103475722 missense probably benign 0.00
R6420:Nckap1l UTSW 15 103491466 missense possibly damaging 0.89
R6440:Nckap1l UTSW 15 103471232 nonsense probably null
R6957:Nckap1l UTSW 15 103491511 missense possibly damaging 0.91
Posted On2015-04-16