Incidental Mutation 'R1931:Nckap5l'
ID215402
Institutional Source Beutler Lab
Gene Symbol Nckap5l
Ensembl Gene ENSMUSG00000023009
Gene NameNCK-associated protein 5-like
Synonyms
MMRRC Submission 039949-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock #R1931 (G1)
Quality Score197
Status Not validated
Chromosome15
Chromosomal Location99422035-99457748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99427261 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 454 (F454L)
Ref Sequence ENSEMBL: ENSMUSP00000023747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023747] [ENSMUST00000161948]
Predicted Effect probably damaging
Transcript: ENSMUST00000023747
AA Change: F454L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: F454L

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: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C A 5: 5,452,019 W144C probably benign Het
Aak1 T G 6: 86,956,336 S430A unknown Het
Abhd16a T A 17: 35,101,015 F337L probably benign Het
Acsl1 C A 8: 46,530,986 A514E probably benign Het
Adam29 T C 8: 55,873,089 Y110C probably damaging Het
Adamts12 C A 15: 11,270,599 Q647K probably benign Het
Adamts20 T A 15: 94,404,010 H27L probably benign Het
Adamtsl1 A G 4: 86,342,411 E961G possibly damaging Het
AU022751 T C X: 6,082,763 E66G probably benign Het
AW011738 T C 4: 156,203,540 probably benign Het
Bcl9 T C 3: 97,205,144 M1332V probably damaging Het
Birc6 T C 17: 74,565,982 I412T probably damaging Het
Cav1 A T 6: 17,339,332 I139F probably damaging Het
Col4a4 A C 1: 82,466,600 probably null Het
Coro2a A T 4: 46,539,138 *544R probably null Het
Cox15 C T 19: 43,746,785 R181H probably benign Het
Ddx23 G A 15: 98,650,718 R370W possibly damaging Het
Dennd2c A G 3: 103,133,252 N278D probably benign Het
Dgkh T C 14: 78,616,505 I265V probably damaging Het
Diexf T A 1: 193,118,309 K401I probably damaging Het
Dpp3 A T 19: 4,917,860 probably benign Het
Drc7 G A 8: 95,071,253 R433H possibly damaging Het
Ece1 A G 4: 137,938,763 K306R probably benign Het
Eif4b T C 15: 102,088,976 S309P unknown Het
Eml3 G A 19: 8,937,143 V507M probably benign Het
Fat1 C T 8: 45,044,228 T4250M possibly damaging Het
Fezf1 T G 6: 23,246,907 I309L probably damaging Het
Fsip2 T A 2: 82,986,733 L4270H probably damaging Het
Gabra4 T C 5: 71,638,237 K206E probably damaging Het
Gfm1 A G 3: 67,456,585 K465E probably benign Het
Gpld1 A T 13: 24,943,710 I32L possibly damaging Het
Hist1h4k A T 13: 21,750,512 probably null Het
Hoxd12 A G 2: 74,675,513 T143A probably benign Het
Hoxd12 A G 2: 74,675,531 T149A probably benign Het
Hspg2 T A 4: 137,540,230 S2050T probably damaging Het
Il31ra T A 13: 112,541,222 N287I probably damaging Het
Itga4 G A 2: 79,313,844 probably null Het
Itpr2 A G 6: 146,240,354 V1730A probably benign Het
Klkb1 T A 8: 45,275,477 Q415L probably benign Het
Lcn10 A G 2: 25,684,335 Y118C probably damaging Het
Lgi3 T C 14: 70,536,268 V294A probably damaging Het
Lrp5 C T 19: 3,610,131 V978I probably benign Het
Naaa A G 5: 92,278,035 V33A probably benign Het
Nol10 A G 12: 17,348,554 M1V probably null Het
Olfm1 G A 2: 28,222,662 probably null Het
Olfr520 G T 7: 99,735,860 R239L possibly damaging Het
Olfr784 T A 10: 129,387,876 M81K probably benign Het
Olfr849 T C 9: 19,441,351 L146P possibly damaging Het
Osbp2 T C 11: 3,726,333 probably null Het
Osbpl1a T A 18: 12,905,194 Q269L probably benign Het
Papss2 T A 19: 32,638,968 C191* probably null Het
Pbxip1 A T 3: 89,447,677 probably null Het
Pdp1 A G 4: 11,962,074 I79T probably benign Het
Peg10 A G 6: 4,755,778 Y118C probably damaging Het
Pnisr A G 4: 21,873,612 T452A probably benign Het
Polr2a A T 11: 69,735,375 Y1612N unknown Het
Polr3c A T 3: 96,719,298 L270H probably damaging Het
Prr11 A T 11: 87,106,042 L32* probably null Het
Ptgfr T A 3: 151,835,194 T226S probably benign Het
Ptprz1 T A 6: 23,007,355 V1639E probably damaging Het
Rps6kb1 A G 11: 86,532,821 V111A possibly damaging Het
Sfxn1 A T 13: 54,093,933 I226F probably damaging Het
Sh3pxd2a A G 19: 47,267,508 S924P probably benign Het
Slc16a5 A T 11: 115,469,368 I126F probably damaging Het
Slc8a3 G T 12: 81,314,446 T533N probably damaging Het
Snrnp40 C G 4: 130,378,043 probably null Het
Spata3 A C 1: 86,022,061 probably benign Het
St8sia6 A G 2: 13,792,812 S48P probably benign Het
Stra6l A T 4: 45,882,698 R470* probably null Het
Stradb A C 1: 58,991,105 N173H probably benign Het
Sugp1 T A 8: 70,071,540 D598E probably benign Het
Tekt2 T C 4: 126,322,817 probably null Het
Tiam2 C T 17: 3,514,725 R1413C possibly damaging Het
Tmprss2 T C 16: 97,569,062 S301G probably benign Het
Tnrc18 A T 5: 142,776,324 N515K unknown Het
Togaram1 A G 12: 64,966,935 Y320C probably damaging Het
Trim41 A G 11: 48,807,492 V549A probably damaging Het
Ugt2b1 T A 5: 86,917,841 L446F probably damaging Het
Unc5b T C 10: 60,772,569 T621A probably benign Het
Vmn1r214 C A 13: 23,035,324 H329Q possibly damaging Het
Vmn2r109 T A 17: 20,553,810 K428* probably null Het
Vmn2r81 A C 10: 79,293,494 I740L probably damaging Het
Wdfy3 A G 5: 101,941,492 L612P probably damaging Het
Zfp109 G A 7: 24,228,736 T424M probably damaging Het
Zfp735 A T 11: 73,711,851 K540N possibly damaging Het
Other mutations in Nckap5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Nckap5l APN 15 99423127 unclassified probably benign
IGL02568:Nckap5l APN 15 99425683 missense probably damaging 1.00
IGL02615:Nckap5l APN 15 99429382 missense possibly damaging 0.89
IGL02896:Nckap5l APN 15 99427210 missense possibly damaging 0.89
R0653:Nckap5l UTSW 15 99423246 missense probably damaging 1.00
R1969:Nckap5l UTSW 15 99422818 missense probably damaging 1.00
R4434:Nckap5l UTSW 15 99422863 missense probably benign
R4490:Nckap5l UTSW 15 99426130 missense probably benign 0.00
R4606:Nckap5l UTSW 15 99429323 unclassified probably benign
R4817:Nckap5l UTSW 15 99423186 missense probably damaging 1.00
R5008:Nckap5l UTSW 15 99425850 missense possibly damaging 0.68
R5011:Nckap5l UTSW 15 99426576 missense probably benign 0.20
R5013:Nckap5l UTSW 15 99426576 missense probably benign 0.20
R5503:Nckap5l UTSW 15 99425622 missense probably damaging 1.00
R5627:Nckap5l UTSW 15 99427706 missense possibly damaging 0.69
R5715:Nckap5l UTSW 15 99423576 missense probably benign 0.01
R6000:Nckap5l UTSW 15 99426885 missense probably damaging 1.00
R6072:Nckap5l UTSW 15 99426654 missense probably damaging 1.00
R6104:Nckap5l UTSW 15 99423988 missense probably benign
R6198:Nckap5l UTSW 15 99425988 missense probably damaging 1.00
R6225:Nckap5l UTSW 15 99428024 missense possibly damaging 0.94
R6529:Nckap5l UTSW 15 99426594 missense probably benign 0.27
R6751:Nckap5l UTSW 15 99423161 missense probably damaging 1.00
R6866:Nckap5l UTSW 15 99426468 missense probably benign
R6869:Nckap5l UTSW 15 99426453 missense probably damaging 1.00
R7163:Nckap5l UTSW 15 99433473 missense probably damaging 0.98
R7174:Nckap5l UTSW 15 99424003 missense probably benign 0.09
R7239:Nckap5l UTSW 15 99426209 missense probably damaging 1.00
R7447:Nckap5l UTSW 15 99427476 missense probably damaging 1.00
R7479:Nckap5l UTSW 15 99423246 missense probably damaging 1.00
R7519:Nckap5l UTSW 15 99426247 missense probably benign 0.01
R7554:Nckap5l UTSW 15 99429380 missense probably benign 0.01
R7562:Nckap5l UTSW 15 99423285 splice site probably null
R8307:Nckap5l UTSW 15 99423177 missense probably damaging 1.00
R8393:Nckap5l UTSW 15 99427169 missense probably damaging 1.00
R8446:Nckap5l UTSW 15 99426049 missense probably benign 0.12
X0062:Nckap5l UTSW 15 99429410 missense probably benign 0.00
Z1177:Nckap5l UTSW 15 99424201 missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCAAAGCAGGGAGACACTACG -3'
(R):5'- TTTGGTGCTACCTCAGAGGG -3'

Sequencing Primer
(F):5'- AGACACTACGGGTCCTGGAGAC -3'
(R):5'- CTACCTCAGAGGGCCAGG -3'
Posted On2014-07-14