Incidental Mutation 'R7174:Nckap5l'
ID 558513
Institutional Source Beutler Lab
Gene Symbol Nckap5l
Ensembl Gene ENSMUSG00000023009
Gene Name NCK-associated protein 5-like
Synonyms C230021P08Rik
MMRRC Submission 045266-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R7174 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99319916-99355629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99321884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1087 (M1087K)
Ref Sequence ENSEMBL: ENSMUSP00000023747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023747]
AlphaFold Q6GQX2
Predicted Effect probably benign
Transcript: ENSMUST00000023747
AA Change: M1087K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: M1087K

DomainStartEndE-ValueType
coiled coil region 22 104 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
low complexity region 158 178 N/A INTRINSIC
low complexity region 223 235 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
low complexity region 271 298 N/A INTRINSIC
low complexity region 351 364 N/A INTRINSIC
low complexity region 496 507 N/A INTRINSIC
low complexity region 566 574 N/A INTRINSIC
low complexity region 633 645 N/A INTRINSIC
low complexity region 799 817 N/A INTRINSIC
Pfam:NCKAP5 871 1173 6.8e-89 PFAM
low complexity region 1205 1217 N/A INTRINSIC
low complexity region 1302 1318 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000125080
Gene: ENSMUSG00000023009
AA Change: M75K

DomainStartEndE-ValueType
Pfam:NCKAP5 5 112 1.6e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C A 5: 144,981,627 (GRCm39) A154E probably benign Het
Adamts1 C A 16: 85,596,060 (GRCm39) A419S probably benign Het
Arap2 C G 5: 62,761,621 (GRCm39) V1702L probably benign Het
Arpc1a C T 5: 145,034,087 (GRCm39) P152S probably benign Het
Bbs10 T A 10: 111,136,628 (GRCm39) C580* probably null Het
Bcam A G 7: 19,499,376 (GRCm39) Y216H probably damaging Het
C2cd3 T C 7: 100,081,405 (GRCm39) S1016P Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam5 T A 7: 17,491,839 (GRCm39) probably null Het
Cfap57 A G 4: 118,446,264 (GRCm39) V666A probably benign Het
Cntn3 A G 6: 102,142,305 (GRCm39) F1021L probably benign Het
Cr1l C T 1: 194,811,497 (GRCm39) G119D probably benign Het
Fgf10 A T 13: 118,851,942 (GRCm39) H8L probably benign Het
Fras1 T A 5: 96,903,436 (GRCm39) probably null Het
Frem1 G T 4: 82,840,493 (GRCm39) T1811N probably benign Het
Fsd1 A T 17: 56,298,356 (GRCm39) Q227L probably benign Het
Galk2 A G 2: 125,738,621 (GRCm39) I138M probably damaging Het
Igkv8-30 A G 6: 70,094,582 (GRCm39) V7A possibly damaging Het
Katnb1 G A 8: 95,824,069 (GRCm39) A450T probably benign Het
Kif14 A T 1: 136,448,995 (GRCm39) E1465V possibly damaging Het
Klra3 A T 6: 130,312,941 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lepr A G 4: 101,607,535 (GRCm39) N251S probably benign Het
Lrp2 T C 2: 69,263,416 (GRCm39) M4379V probably benign Het
Lrriq1 T C 10: 103,060,826 (GRCm39) N92S probably benign Het
Map3k13 A G 16: 21,745,006 (GRCm39) N855S probably damaging Het
Marf1 T A 16: 13,954,817 (GRCm39) D900V probably damaging Het
Nlrp9c T C 7: 26,084,722 (GRCm39) N286D probably benign Het
Or12j4 T C 7: 140,047,076 (GRCm39) *321Q probably null Het
Or13c7d C T 4: 43,770,691 (GRCm39) A107T not run Het
Or4k2 T C 14: 50,424,153 (GRCm39) I175V probably benign Het
Or51ah3 A T 7: 103,210,598 (GRCm39) R305* probably null Het
Or5g9 C T 2: 85,552,297 (GRCm39) P183S possibly damaging Het
Or5p72 T A 7: 108,022,367 (GRCm39) S196R probably benign Het
Pcdhga3 A G 18: 37,808,980 (GRCm39) T478A probably benign Het
Pdgfrb T C 18: 61,199,587 (GRCm39) I385T probably benign Het
Poteg C T 8: 27,943,305 (GRCm39) R192W probably benign Het
Prmt2 G T 10: 76,061,173 (GRCm39) D104E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rlbp1 T C 7: 79,027,090 (GRCm39) N190S possibly damaging Het
Ryr2 T C 13: 11,816,063 (GRCm39) D641G possibly damaging Het
Sh3gl1 A T 17: 56,324,846 (GRCm39) M303K probably benign Het
Slc26a5 A G 5: 22,018,892 (GRCm39) V649A probably damaging Het
Slco4c1 T C 1: 96,765,323 (GRCm39) N376D possibly damaging Het
Socs3 A T 11: 117,858,553 (GRCm39) Y168* probably null Het
Spata31d1d A T 13: 59,876,394 (GRCm39) N380K possibly damaging Het
Speer1c T C 5: 10,295,237 (GRCm39) K56E probably damaging Het
Ssbp3 A G 4: 106,894,843 (GRCm39) N254S probably benign Het
Stard10 C T 7: 100,995,226 (GRCm39) S326L probably damaging Het
Taf2 T C 15: 54,912,135 (GRCm39) D524G possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Tchh C T 3: 93,353,478 (GRCm39) R973C unknown Het
Tmem67 T C 4: 12,077,337 (GRCm39) R172G possibly damaging Het
Top2a C A 11: 98,914,922 (GRCm39) probably benign Het
Ttc8 T A 12: 98,940,960 (GRCm39) N323K possibly damaging Het
Txnl1 T C 18: 63,804,667 (GRCm39) N276D probably benign Het
Usp24 T G 4: 106,219,878 (GRCm39) probably null Het
Vmn1r18 A C 6: 57,366,609 (GRCm39) probably null Het
Vmn2r53 A T 7: 12,315,628 (GRCm39) H730Q probably benign Het
Wnk1 A C 6: 119,947,939 (GRCm39) I500M probably damaging Het
Zfp335 A T 2: 164,744,423 (GRCm39) Y451N probably damaging Het
Zfp683 T A 4: 133,783,064 (GRCm39) I176N probably damaging Het
Other mutations in Nckap5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Nckap5l APN 15 99,321,008 (GRCm39) unclassified probably benign
IGL02568:Nckap5l APN 15 99,323,564 (GRCm39) missense probably damaging 1.00
IGL02615:Nckap5l APN 15 99,327,263 (GRCm39) missense possibly damaging 0.89
IGL02896:Nckap5l APN 15 99,325,091 (GRCm39) missense possibly damaging 0.89
R0653:Nckap5l UTSW 15 99,321,127 (GRCm39) missense probably damaging 1.00
R1931:Nckap5l UTSW 15 99,325,142 (GRCm39) missense probably damaging 1.00
R1969:Nckap5l UTSW 15 99,320,699 (GRCm39) missense probably damaging 1.00
R4434:Nckap5l UTSW 15 99,320,744 (GRCm39) missense probably benign
R4490:Nckap5l UTSW 15 99,324,011 (GRCm39) missense probably benign 0.00
R4606:Nckap5l UTSW 15 99,327,204 (GRCm39) unclassified probably benign
R4817:Nckap5l UTSW 15 99,321,067 (GRCm39) missense probably damaging 1.00
R5008:Nckap5l UTSW 15 99,323,731 (GRCm39) missense possibly damaging 0.68
R5011:Nckap5l UTSW 15 99,324,457 (GRCm39) missense probably benign 0.20
R5013:Nckap5l UTSW 15 99,324,457 (GRCm39) missense probably benign 0.20
R5503:Nckap5l UTSW 15 99,323,503 (GRCm39) missense probably damaging 1.00
R5627:Nckap5l UTSW 15 99,325,587 (GRCm39) missense possibly damaging 0.69
R5715:Nckap5l UTSW 15 99,321,457 (GRCm39) missense probably benign 0.01
R6000:Nckap5l UTSW 15 99,324,766 (GRCm39) missense probably damaging 1.00
R6072:Nckap5l UTSW 15 99,324,535 (GRCm39) missense probably damaging 1.00
R6104:Nckap5l UTSW 15 99,321,869 (GRCm39) missense probably benign
R6198:Nckap5l UTSW 15 99,323,869 (GRCm39) missense probably damaging 1.00
R6225:Nckap5l UTSW 15 99,325,905 (GRCm39) missense possibly damaging 0.94
R6529:Nckap5l UTSW 15 99,324,475 (GRCm39) missense probably benign 0.27
R6751:Nckap5l UTSW 15 99,321,042 (GRCm39) missense probably damaging 1.00
R6866:Nckap5l UTSW 15 99,324,349 (GRCm39) missense probably benign
R6869:Nckap5l UTSW 15 99,324,334 (GRCm39) missense probably damaging 1.00
R7163:Nckap5l UTSW 15 99,331,354 (GRCm39) missense probably damaging 0.98
R7239:Nckap5l UTSW 15 99,324,090 (GRCm39) missense probably damaging 1.00
R7447:Nckap5l UTSW 15 99,325,357 (GRCm39) missense probably damaging 1.00
R7479:Nckap5l UTSW 15 99,321,127 (GRCm39) missense probably damaging 1.00
R7519:Nckap5l UTSW 15 99,324,128 (GRCm39) missense probably benign 0.01
R7554:Nckap5l UTSW 15 99,327,261 (GRCm39) missense probably benign 0.01
R7562:Nckap5l UTSW 15 99,321,166 (GRCm39) splice site probably null
R8307:Nckap5l UTSW 15 99,321,058 (GRCm39) missense probably damaging 1.00
R8393:Nckap5l UTSW 15 99,325,050 (GRCm39) missense probably damaging 1.00
R8446:Nckap5l UTSW 15 99,323,930 (GRCm39) missense probably benign 0.12
R8754:Nckap5l UTSW 15 99,327,290 (GRCm39) missense probably benign
R8914:Nckap5l UTSW 15 99,323,761 (GRCm39) missense probably damaging 1.00
R9000:Nckap5l UTSW 15 99,321,310 (GRCm39) missense probably damaging 1.00
X0062:Nckap5l UTSW 15 99,327,291 (GRCm39) missense probably benign 0.00
Z1177:Nckap5l UTSW 15 99,322,082 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAATCATTTCTCCACCGCC -3'
(R):5'- TATGGGGATTTCCAGCCAGTG -3'

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