Incidental Mutation 'R8331:Krtap5-3'
ID 644372
Institutional Source Beutler Lab
Gene Symbol Krtap5-3
Ensembl Gene ENSMUSG00000046248
Gene Name keratin associated protein 5-3
Synonyms A030007E19Rik
MMRRC Submission 067860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8331 (G1)
Quality Score 82.0076
Status Not validated
Chromosome 7
Chromosomal Location 141755101-141756752 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 141755563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 133 (C133*)
Ref Sequence ENSEMBL: ENSMUSP00000141116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084414] [ENSMUST00000187512]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084414
SMART Domains Protein: ENSMUSP00000081451
Gene: ENSMUSG00000046248

DomainStartEndE-ValueType
low complexity region 2 126 N/A INTRINSIC
low complexity region 127 174 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187512
AA Change: C133*
SMART Domains Protein: ENSMUSP00000141116
Gene: ENSMUSG00000046248
AA Change: C133*

DomainStartEndE-ValueType
low complexity region 2 356 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,650,726 (GRCm39) A545S probably damaging Het
Alox12e A T 11: 70,211,923 (GRCm39) S195R probably benign Het
Angpt1 T C 15: 42,539,653 (GRCm39) R69G probably damaging Het
Apob A G 12: 8,051,882 (GRCm39) Q1149R probably benign Het
As3mt A T 19: 46,697,445 (GRCm39) E71V probably damaging Het
Atp9a A T 2: 168,517,217 (GRCm39) V372E probably benign Het
Bmal1 C A 7: 112,912,703 (GRCm39) N586K probably benign Het
Bmp2k T C 5: 97,192,928 (GRCm39) F259S probably damaging Het
Cacna1c T C 6: 118,607,290 (GRCm39) T1364A Het
Casp7 T A 19: 56,429,397 (GRCm39) I261N probably damaging Het
Ccdc154 A G 17: 25,386,927 (GRCm39) K319E probably benign Het
Cdc42bpg C A 19: 6,363,477 (GRCm39) L446I probably benign Het
Cdkl3 A T 11: 51,917,704 (GRCm39) T334S probably benign Het
Cep250 T A 2: 155,832,173 (GRCm39) L1366Q probably damaging Het
Chp2 G A 7: 121,821,133 (GRCm39) D165N probably damaging Het
Ckap5 T A 2: 91,406,545 (GRCm39) M782K probably damaging Het
Col20a1 T A 2: 180,638,559 (GRCm39) I433N possibly damaging Het
Col4a2 A T 8: 11,463,985 (GRCm39) R320* probably null Het
Ctsc A G 7: 87,946,328 (GRCm39) H119R possibly damaging Het
Cubn T C 2: 13,345,053 (GRCm39) H2121R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
D630045J12Rik T C 6: 38,125,409 (GRCm39) E1535G probably damaging Het
Dido1 A T 2: 180,302,242 (GRCm39) D1887E probably benign Het
Dnah6 T C 6: 73,001,983 (GRCm39) E3903G probably benign Het
Eif4a3l2 T C 6: 116,529,323 (GRCm39) I400T probably damaging Het
Ep300 T C 15: 81,485,411 (GRCm39) S133P unknown Het
Ercc3 T C 18: 32,373,871 (GRCm39) S73P probably damaging Het
Fis1 T C 5: 136,991,987 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm17087 A G 17: 8,785,539 (GRCm39) W55R probably damaging Het
Gm3404 A T 5: 146,462,759 (GRCm39) S41C probably damaging Het
Greb1l T C 18: 10,458,706 (GRCm39) S96P possibly damaging Het
Irf3 C T 7: 44,650,383 (GRCm39) P300S probably damaging Het
Klk1b4 G A 7: 43,860,999 (GRCm39) C214Y probably damaging Het
Map3k12 T A 15: 102,410,766 (GRCm39) R448* probably null Het
Map4k2 C G 19: 6,402,853 (GRCm39) A738G probably damaging Het
Matn2 A T 15: 34,428,827 (GRCm39) K730N probably damaging Het
Mpp3 C T 11: 101,902,541 (GRCm39) probably null Het
N4bp2 T A 5: 65,964,943 (GRCm39) D997E probably damaging Het
Nav2 C T 7: 49,102,371 (GRCm39) P390S probably benign Het
Nme8 A G 13: 19,843,036 (GRCm39) S380P probably damaging Het
Nup210 C T 6: 91,030,648 (GRCm39) D878N possibly damaging Het
Odad3 C T 9: 21,903,007 (GRCm39) R441H probably damaging Het
Or4k49 A G 2: 111,494,727 (GRCm39) D52G possibly damaging Het
Or8c18 A G 9: 38,203,381 (GRCm39) I47V possibly damaging Het
Osbpl9 C A 4: 108,923,378 (GRCm39) W427L probably damaging Het
Pcdhb12 T C 18: 37,570,342 (GRCm39) V496A probably damaging Het
Pdlim1 G A 19: 40,218,995 (GRCm39) T212I possibly damaging Het
Phc2 C T 4: 128,605,987 (GRCm39) Q270* probably null Het
Pi4kb G A 3: 94,903,995 (GRCm39) R527Q probably null Het
Platr25 G T 13: 62,848,717 (GRCm39) H48Q probably benign Het
Polr1a C T 6: 71,953,163 (GRCm39) T1577M probably damaging Het
Ptprf C T 4: 118,083,263 (GRCm39) V915M probably benign Het
Ptprh A G 7: 4,552,480 (GRCm39) L928S probably damaging Het
Qrsl1 T C 10: 43,752,521 (GRCm39) N434S probably damaging Het
Slc44a4 T A 17: 35,140,545 (GRCm39) L246H probably damaging Het
Steap3 A T 1: 120,169,218 (GRCm39) C360S possibly damaging Het
Stk10 A G 11: 32,538,928 (GRCm39) T256A Het
Tatdn3 A T 1: 190,778,408 (GRCm39) L261Q probably damaging Het
Thnsl1 T A 2: 21,216,985 (GRCm39) F246L probably benign Het
Thsd7a A G 6: 12,471,157 (GRCm39) V487A Het
Tmem41a A C 16: 21,766,116 (GRCm39) probably null Het
Togaram2 G A 17: 72,036,221 (GRCm39) V924M probably damaging Het
Trabd T C 15: 88,969,131 (GRCm39) F185S probably damaging Het
Traf1 T C 2: 34,838,370 (GRCm39) D156G probably damaging Het
Ttn T C 2: 76,710,482 (GRCm39) E8513G unknown Het
Txlna C A 4: 129,533,279 (GRCm39) S83I probably damaging Het
Utrn T G 10: 12,490,363 (GRCm39) T6P probably benign Het
Vmn2r26 T A 6: 124,038,887 (GRCm39) S821T probably benign Het
Wdhd1 A T 14: 47,509,702 (GRCm39) probably null Het
Wnk1 T C 6: 119,930,794 (GRCm39) I917V probably benign Het
Wscd2 A G 5: 113,688,996 (GRCm39) M1V probably null Het
Xkr6 A G 14: 64,056,392 (GRCm39) H357R unknown Het
Zfhx2 G T 14: 55,309,444 (GRCm39) T885K probably benign Het
Zfp583 C T 7: 6,320,554 (GRCm39) E153K probably benign Het
Zmynd11 A G 13: 9,745,190 (GRCm39) M243T probably benign Het
Other mutations in Krtap5-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Krtap5-3 APN 7 141,755,612 (GRCm39) intron probably benign
IGL00341:Krtap5-3 APN 7 141,755,612 (GRCm39) intron probably benign
IGL02170:Krtap5-3 APN 7 141,756,215 (GRCm39) missense unknown
IGL03137:Krtap5-3 APN 7 141,755,946 (GRCm39) intron probably benign
R1888:Krtap5-3 UTSW 7 141,755,979 (GRCm39) intron probably benign
R1888:Krtap5-3 UTSW 7 141,755,979 (GRCm39) intron probably benign
R5215:Krtap5-3 UTSW 7 141,755,974 (GRCm39) nonsense probably null
R6081:Krtap5-3 UTSW 7 141,755,223 (GRCm39) missense unknown
R6529:Krtap5-3 UTSW 7 141,756,079 (GRCm39) nonsense probably null
R7102:Krtap5-3 UTSW 7 141,755,992 (GRCm39) nonsense probably null
R7528:Krtap5-3 UTSW 7 141,755,219 (GRCm39) missense unknown
R7531:Krtap5-3 UTSW 7 141,755,942 (GRCm39) missense unknown
R8270:Krtap5-3 UTSW 7 141,755,693 (GRCm39) missense unknown
R8552:Krtap5-3 UTSW 7 141,756,089 (GRCm39) intron probably benign
R8998:Krtap5-3 UTSW 7 141,755,933 (GRCm39) missense unknown
R9299:Krtap5-3 UTSW 7 141,756,267 (GRCm39) missense unknown
R9337:Krtap5-3 UTSW 7 141,756,267 (GRCm39) missense unknown
R9484:Krtap5-3 UTSW 7 141,756,068 (GRCm39) missense unknown
Z1177:Krtap5-3 UTSW 7 141,755,790 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGAAGTGACCATGTGCTCC -3'
(R):5'- AGGAACAACAGCCTCCCTTG -3'

Sequencing Primer
(F):5'- CAGAACCATGAGCTGCTGTG -3'
(R):5'- ACAGCCTCCCTTGCAGCC -3'
Posted On 2020-09-02