Incidental Mutation 'R9320:Krcc1'
ID 706086
Institutional Source Beutler Lab
Gene Symbol Krcc1
Ensembl Gene ENSMUSG00000053012
Gene Name lysine-rich coiled-coil 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R9320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 71248661-71262303 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71261457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 163 (E163G)
Ref Sequence ENSEMBL: ENSMUSP00000079748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080949] [ENSMUST00000114188] [ENSMUST00000168700] [ENSMUST00000204436] [ENSMUST00000205123]
AlphaFold Q99JT5
Predicted Effect probably benign
Transcript: ENSMUST00000080949
AA Change: E163G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000079748
Gene: ENSMUSG00000053012
AA Change: E163G

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 benign
Transcript: ENSMUST00000168700
AA Change: E163G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130252
Gene: ENSMUSG00000053012
AA Change: E163G

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204436
AA Change: E163G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000145416
Gene: ENSMUSG00000053012
AA Change: E163G

DomainStartEndE-ValueType
coiled coil region 209 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205123
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,320 (GRCm39) Y1451H probably damaging Het
Abca7 T A 10: 79,833,471 (GRCm39) M8K possibly damaging Het
Ablim3 C A 18: 61,972,805 (GRCm39) R238L probably damaging Het
Adar T A 3: 89,658,368 (GRCm39) Y1141* probably null Het
Arid2 T C 15: 96,269,067 (GRCm39) I1060T probably damaging Het
Armc2 A T 10: 41,839,774 (GRCm39) V397D possibly damaging Het
Astn2 A G 4: 66,322,386 (GRCm39) V71A unknown Het
Bcat2 A G 7: 45,234,542 (GRCm39) D141G probably damaging Het
Bicdl1 C A 5: 115,862,769 (GRCm39) R162L probably damaging Het
Btbd17 A G 11: 114,684,910 (GRCm39) I43T possibly damaging Het
C2cd5 A T 6: 142,977,019 (GRCm39) C698* probably null Het
Calr T A 8: 85,572,629 (GRCm39) K87* probably null Het
Cap2 C T 13: 46,768,818 (GRCm39) T208I probably benign Het
Col14a1 A T 15: 55,364,780 (GRCm39) M1630L probably benign Het
Copg1 T G 6: 87,887,072 (GRCm39) S816A possibly damaging Het
Csf2ra C A 19: 61,215,280 (GRCm39) A112S possibly damaging Het
Cwc27 T A 13: 104,933,799 (GRCm39) H241L probably benign Het
Dgki T A 6: 36,892,422 (GRCm39) E852V probably damaging Het
Dpp6 T C 5: 27,868,521 (GRCm39) probably null Het
Dynlrb1 T C 2: 155,089,860 (GRCm39) probably null Het
Ehhadh C T 16: 21,592,281 (GRCm39) V141I probably benign Het
Esyt3 A G 9: 99,194,044 (GRCm39) L865P probably damaging Het
Fam83h T A 15: 75,873,924 (GRCm39) T1138S possibly damaging Het
Fzd4 T C 7: 89,056,912 (GRCm39) W320R probably damaging Het
Gimap7 A T 6: 48,701,260 (GRCm39) K282M probably benign Het
Gnai2 G A 9: 107,492,913 (GRCm39) T330I Het
Gpr107 T C 2: 31,078,728 (GRCm39) S388P possibly damaging Het
Il1a T G 2: 129,142,654 (GRCm39) M264L probably benign Het
Ints10 A T 8: 69,279,951 (GRCm39) I693F probably damaging Het
Jak3 A T 8: 72,134,265 (GRCm39) N456Y probably benign Het
Lctl A G 9: 64,040,455 (GRCm39) Y466C probably damaging Het
Lrp12 A T 15: 39,741,357 (GRCm39) S472T probably damaging Het
Lrp1b A G 2: 41,335,111 (GRCm39) probably null Het
Lrriq1 T A 10: 103,057,144 (GRCm39) M219L probably benign Het
Mbl2 T A 19: 30,216,741 (GRCm39) D184E probably damaging Het
Mrgpra9 G A 7: 46,885,392 (GRCm39) R92C probably benign Het
Mroh4 G A 15: 74,483,405 (GRCm39) T644I probably damaging Het
Muc5ac C T 7: 141,369,255 (GRCm39) A3114V probably benign Het
Myh11 T A 16: 14,029,152 (GRCm39) M1197L Het
Naga C T 15: 82,221,084 (GRCm39) G71S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nsd3 A G 8: 26,199,088 (GRCm39) probably null Het
Nsun6 T C 2: 15,047,048 (GRCm39) T101A probably benign Het
Or55b10 T A 7: 102,144,084 (GRCm39) probably benign Het
Pabpc4l T A 3: 46,401,326 (GRCm39) D106V probably damaging Het
Pdlim5 G A 3: 141,953,109 (GRCm39) P529L probably damaging Het
Ralgapa1 A G 12: 55,755,843 (GRCm39) L1111P possibly damaging Het
Rangap1 T C 15: 81,606,221 (GRCm39) D40G probably benign Het
Ripor2 T C 13: 24,915,663 (GRCm39) F1078L probably damaging Het
Ryr3 T C 2: 112,610,336 (GRCm39) D2312G probably damaging Het
Siglecg T A 7: 43,058,853 (GRCm39) I202N probably benign Het
Slco4c1 G T 1: 96,795,644 (GRCm39) S138* probably null Het
Snx27 T C 3: 94,431,593 (GRCm39) Y267C probably damaging Het
Sphk2 C T 7: 45,361,179 (GRCm39) R275H probably damaging Het
Stk36 T A 1: 74,655,793 (GRCm39) V432E possibly damaging Het
Tecrl C T 5: 83,428,422 (GRCm39) S283N possibly damaging Het
Tenm2 T A 11: 35,914,474 (GRCm39) E2354D probably damaging Het
Tmem59l A G 8: 70,937,822 (GRCm39) V186A possibly damaging Het
Try4 T C 6: 41,282,008 (GRCm39) probably null Het
Ubr1 C A 2: 120,727,000 (GRCm39) G1248V probably benign Het
Umod C T 7: 119,065,355 (GRCm39) G558E probably damaging Het
Unc13b T C 4: 43,171,044 (GRCm39) F624S unknown Het
Uvssa T G 5: 33,547,365 (GRCm39) D310E probably benign Het
Vmn1r222 A T 13: 23,416,418 (GRCm39) M265K probably benign Het
Vmn1r3 A G 4: 3,185,284 (GRCm39) F8L probably benign Het
Zfp268 C G 4: 145,349,156 (GRCm39) Q198E possibly damaging Het
Zfp386 T A 12: 116,023,517 (GRCm39) C412S 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
R1187:Krcc1 UTSW 6 71,261,612 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- ATTCACCAGGGATGGCTTC -3'
(R):5'- TGGTCCCAAAGCATCTCCTC -3'

Sequencing Primer
(F):5'- GGATGGCTTCTCAGAAAAACCAGTC -3'
(R):5'- TCTTTCTTAGATGATACATCTCGGG -3'
Posted On 2022-03-25