Incidental Mutation 'R1245:Nckap1l'
ID 152139
Institutional Source Beutler Lab
Gene Symbol Nckap1l
Ensembl Gene ENSMUSG00000022488
Gene Name NCK associated protein 1 like
Synonyms Hem1, 4930568P13Rik
MMRRC Submission 039312-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R1245 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 103362221-103407237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103364352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 100 (E100G)
Ref Sequence ENSEMBL: ENSMUSP00000154960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047405] [ENSMUST00000229127]
AlphaFold Q8K1X4
Predicted Effect probably damaging
Transcript: ENSMUST00000047405
AA Change: E100G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: E100G

DomainStartEndE-ValueType
Pfam:Nckap1 7 1123 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000229127
AA Change: E100G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229468
Meta Mutation Damage Score 0.5982 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 98% (41/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,119,410 (GRCm39) probably benign Het
Ahnak A G 19: 8,981,533 (GRCm39) N939S probably benign Het
Cblb C A 16: 51,867,550 (GRCm39) probably benign Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Col6a6 G A 9: 105,626,109 (GRCm39) R1515C possibly damaging Het
Csf1r C A 18: 61,247,884 (GRCm39) D317E probably benign Het
Dlg2 T C 7: 92,091,803 (GRCm39) probably benign Het
Enpp3 G A 10: 24,660,851 (GRCm39) probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm5828 A T 1: 16,839,353 (GRCm39) noncoding transcript Het
Gpr137c T C 14: 45,516,522 (GRCm39) probably benign Het
Ibtk A G 9: 85,602,795 (GRCm39) probably null Het
Kctd7 A G 5: 130,177,058 (GRCm39) H96R possibly damaging Het
Lmcd1 T A 6: 112,292,673 (GRCm39) V175E probably benign Het
Lrfn2 A T 17: 49,403,277 (GRCm39) probably null Het
Ltbp1 C T 17: 75,634,189 (GRCm39) probably benign Het
Myc A G 15: 61,859,746 (GRCm39) I140V probably damaging Het
Ncs1 A G 2: 31,174,705 (GRCm39) N143S probably benign Het
Nmnat2 A G 1: 152,987,949 (GRCm39) D238G probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Ppp2r3d G A 9: 101,071,593 (GRCm39) T675I probably damaging Het
Psma2 A G 13: 14,787,876 (GRCm39) Y6C probably damaging Het
Rspo4 G A 2: 151,709,846 (GRCm39) E84K probably damaging Het
Shank2 G A 7: 143,965,457 (GRCm39) V1015I probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Smg8 T C 11: 86,974,436 (GRCm39) D632G possibly damaging Het
Sppl2a A T 2: 126,755,441 (GRCm39) probably benign Het
Svep1 A G 4: 58,066,427 (GRCm39) probably null Het
Ttn T A 2: 76,776,044 (GRCm39) K1666M probably damaging Het
Ulk1 A G 5: 110,937,206 (GRCm39) probably null Het
Unc80 A G 1: 66,594,254 (GRCm39) D1211G possibly damaging Het
Vmn2r112 A G 17: 22,822,228 (GRCm39) Q302R probably benign Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Wnk1 C T 6: 119,925,418 (GRCm39) V1847I probably benign Het
Zfp653 A T 9: 21,967,718 (GRCm39) I529N probably damaging Het
Zfp948 T C 17: 21,807,104 (GRCm39) S99P probably damaging Het
Zfyve9 A G 4: 108,550,508 (GRCm39) probably benign Het
Zscan29 T C 2: 120,996,984 (GRCm39) T246A 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
IGL01912:Nckap1l APN 15 103,382,573 (GRCm39) missense probably benign 0.15
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
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
Predicted Primers PCR Primer
(F):5'- CGAGCTATTGATCCCACCCTAGCA -3'
(R):5'- tcgtgccacTGACCATATCCACT -3'

Sequencing Primer
(F):5'- GTTCACCCCTTAAAGAATGACTGG -3'
(R):5'- GTGCCTTTATCCTTTTCTTTCAAGAA -3'
Posted On 2014-01-29