Incidental Mutation 'R1187:Krcc1'
ID 102254
Institutional Source Beutler Lab
Gene Symbol Krcc1
Ensembl Gene ENSMUSG00000053012
Gene Name lysine-rich coiled-coil 1
Synonyms
MMRRC Submission 039259-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1187 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71248661-71262303 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 71261612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 215 (K215*)
Ref Sequence ENSEMBL: ENSMUSP00000145416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080949] [ENSMUST00000114188] [ENSMUST00000168700] [ENSMUST00000204436] [ENSMUST00000205123]
AlphaFold Q99JT5
Predicted Effect probably null
Transcript: ENSMUST00000080949
AA Change: K215*
SMART Domains Protein: ENSMUSP00000079748
Gene: ENSMUSG00000053012
AA Change: K215*

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114188
SMART Domains Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027

DomainStartEndE-ValueType
Pfam:zf-MYND 18 56 5.4e-11 PFAM
SET 76 225 1.53e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000168700
AA Change: K215*
SMART Domains Protein: ENSMUSP00000130252
Gene: ENSMUSG00000053012
AA Change: K215*

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000204436
AA Change: K215*
SMART Domains Protein: ENSMUSP00000145416
Gene: ENSMUSG00000053012
AA Change: K215*

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205123
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,478,981 (GRCm39) M4276I probably benign Het
Apol7b A T 15: 77,307,603 (GRCm39) F297L possibly damaging Het
Capsl C T 15: 9,457,807 (GRCm39) R9W probably damaging Het
Catsperb T C 12: 101,591,991 (GRCm39) V1107A probably benign Het
Cip2a T A 16: 48,820,656 (GRCm39) N132K probably damaging Het
Clca3a1 T C 3: 144,715,504 (GRCm39) I544M probably benign Het
Cma2 T C 14: 56,210,280 (GRCm39) V55A probably benign Het
Col10a1 A T 10: 34,270,834 (GRCm39) I269F probably benign Het
Col26a1 G A 5: 136,773,020 (GRCm39) H385Y probably damaging Het
Ctdp1 A G 18: 80,492,702 (GRCm39) Y598H probably damaging Het
Dnajc1 A G 2: 18,289,520 (GRCm39) S296P probably benign Het
Dvl2 A T 11: 69,896,962 (GRCm39) T250S probably benign Het
Etv1 A G 12: 38,915,563 (GRCm39) Y410C probably damaging Het
Lrr1 A T 12: 69,221,796 (GRCm39) T313S probably benign Het
Lrrc7 T A 3: 157,866,039 (GRCm39) E1234V probably damaging Het
Mepe G A 5: 104,486,114 (GRCm39) R418H probably damaging Het
Myrfl G A 10: 116,667,447 (GRCm39) T331I probably damaging Het
Nbeal1 T C 1: 60,233,687 (GRCm39) W26R probably damaging Het
Nsrp1 G A 11: 76,936,853 (GRCm39) P448S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Olfml2a A G 2: 38,849,825 (GRCm39) N514D probably damaging Het
Or2l5 T C 16: 19,333,796 (GRCm39) T197A probably benign Het
Or2y17 T G 11: 49,231,417 (GRCm39) D19E probably damaging Het
Pcdhb1 C T 18: 37,398,597 (GRCm39) R183C probably damaging Het
Phf14 T G 6: 11,941,495 (GRCm39) C41G probably damaging Het
Pkhd1l1 T C 15: 44,361,447 (GRCm39) V499A possibly damaging Het
Plcb4 A G 2: 135,810,314 (GRCm39) I638V probably benign Het
Ppp4c T A 7: 126,385,372 (GRCm39) I296F probably benign Het
Prkdc T C 16: 15,577,610 (GRCm39) V2388A probably damaging Het
Rgl1 T C 1: 152,420,184 (GRCm39) D353G probably benign Het
Rnf19b T G 4: 128,969,360 (GRCm39) probably null Het
Ryr3 C T 2: 112,788,521 (GRCm39) D190N probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e G A 5: 14,282,098 (GRCm39) M411I probably damaging Het
Sgsh A T 11: 119,237,404 (GRCm39) Y403* probably null Het
Sh2d7 T A 9: 54,448,471 (GRCm39) L164Q probably benign Het
Slfn8 A T 11: 82,894,314 (GRCm39) V775E probably damaging Het
Smgc G A 15: 91,744,798 (GRCm39) G287S probably damaging Het
Soat1 T A 1: 156,261,745 (GRCm39) Y421F probably damaging Het
Sri T C 5: 8,109,416 (GRCm39) Y52H probably damaging Het
Stat4 C A 1: 52,115,836 (GRCm39) Q259K probably damaging Het
Trpm5 A G 7: 142,628,206 (GRCm39) L1023P probably damaging Het
Ush1c T A 7: 45,858,338 (GRCm39) N650I probably benign Het
Vmn2r8 G T 5: 108,951,085 (GRCm39) S120* probably null Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp629 A G 7: 127,209,401 (GRCm39) S803P probably benign Het
Zfp629 T C 7: 127,211,059 (GRCm39) K250R probably damaging Het
Zfp758 T A 17: 22,594,171 (GRCm39) I187N probably benign Het
Zfp85 T A 13: 67,897,835 (GRCm39) K79I probably damaging Het
Other mutations in Krcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01828:Krcc1 APN 6 71,261,351 (GRCm39) missense probably damaging 0.97
IGL02246:Krcc1 APN 6 71,261,405 (GRCm39) missense probably benign 0.31
R4965:Krcc1 UTSW 6 71,261,621 (GRCm39) missense probably damaging 0.98
R6949:Krcc1 UTSW 6 71,261,135 (GRCm39) missense probably benign 0.06
R7107:Krcc1 UTSW 6 71,261,198 (GRCm39) missense probably benign 0.44
R9320:Krcc1 UTSW 6 71,261,457 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TAGTTCACAAGCGCCTCTGCTC -3'
(R):5'- AGTCCACTACCACAGCAATTTGGTC -3'

Sequencing Primer
(F):5'- TCGACCCTCAAGTCAGTCATAG -3'
(R):5'- TCTGTCCACATATGCAAGTGAC -3'
Posted On 2014-01-15