Incidental Mutation 'R6198:Nckap5l'
ID 503063
Institutional Source Beutler Lab
Gene Symbol Nckap5l
Ensembl Gene ENSMUSG00000023009
Gene Name NCK-associated protein 5-like
Synonyms C230021P08Rik
MMRRC Submission 044338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99319916-99355629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99323869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 878 (K878R)
Ref Sequence ENSEMBL: ENSMUSP00000023747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023747] [ENSMUST00000161948]
AlphaFold Q6GQX2
Predicted Effect probably damaging
Transcript: ENSMUST00000023747
AA Change: K878R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: K878R

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 noncoding transcript
Transcript: ENSMUST00000159738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160500
Predicted Effect probably benign
Transcript: ENSMUST00000161004
SMART Domains Protein: ENSMUSP00000125080
Gene: ENSMUSG00000023009

DomainStartEndE-ValueType
Pfam:NCKAP5 5 112 1.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161948
SMART Domains Protein: ENSMUSP00000123858
Gene: ENSMUSG00000023009

DomainStartEndE-ValueType
coiled coil region 22 104 N/A INTRINSIC
low complexity region 111 122 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y probably benign 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
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
R7174:Nckap5l UTSW 15 99,321,884 (GRCm39) missense probably benign 0.09
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'- GAGATGTTGAGGCTCTCAGC -3'
(R):5'- TCATTCCATGGGAGCTCGAG -3'

Sequencing Primer
(F):5'- CGTCTTGACTTCTTTCCGGAGTG -3'
(R):5'- AGGAGCTGCCTCACCAAAGTG -3'
Posted On 2018-02-27