Incidental Mutation 'R6114:Cchcr1'
ID 485048
Institutional Source Beutler Lab
Gene Symbol Cchcr1
Ensembl Gene ENSMUSG00000040312
Gene Name coiled-coil alpha-helical rod protein 1
Synonyms Hcr
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # R6114 (G1)
Quality Score 146.008
Status Validated
Chromosome 17
Chromosomal Location 35827997-35841912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35836227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 339 (E339G)
Ref Sequence ENSEMBL: ENSMUSP00000132028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045956] [ENSMUST00000164242] [ENSMUST00000173903]
AlphaFold Q8K2I2
Predicted Effect probably damaging
Transcript: ENSMUST00000045956
AA Change: E339G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: E339G

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164242
AA Change: E339G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: E339G

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173582
Predicted Effect possibly damaging
Transcript: ENSMUST00000173903
AA Change: E422G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: E422G

DomainStartEndE-ValueType
Pfam:HCR 110 855 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174827
Meta Mutation Damage Score 0.8979 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Cchcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Cchcr1 APN 17 35,839,469 (GRCm39) missense possibly damaging 0.92
IGL02723:Cchcr1 APN 17 35,841,699 (GRCm39) missense probably benign 0.00
IGL02806:Cchcr1 APN 17 35,836,153 (GRCm39) splice site probably benign
IGL03055:Cchcr1 UTSW 17 35,837,516 (GRCm39) missense probably benign 0.33
R0569:Cchcr1 UTSW 17 35,839,865 (GRCm39) critical splice donor site probably null
R1438:Cchcr1 UTSW 17 35,841,457 (GRCm39) critical splice donor site probably null
R2055:Cchcr1 UTSW 17 35,837,317 (GRCm39) missense probably damaging 1.00
R2511:Cchcr1 UTSW 17 35,841,410 (GRCm39) missense probably benign 0.01
R3910:Cchcr1 UTSW 17 35,836,233 (GRCm39) missense probably damaging 1.00
R3911:Cchcr1 UTSW 17 35,836,233 (GRCm39) missense probably damaging 1.00
R3913:Cchcr1 UTSW 17 35,836,233 (GRCm39) missense probably damaging 1.00
R5590:Cchcr1 UTSW 17 35,837,577 (GRCm39) missense probably damaging 1.00
R5821:Cchcr1 UTSW 17 35,839,745 (GRCm39) missense probably damaging 1.00
R5940:Cchcr1 UTSW 17 35,835,890 (GRCm39) missense probably damaging 1.00
R5941:Cchcr1 UTSW 17 35,835,890 (GRCm39) missense probably damaging 1.00
R6006:Cchcr1 UTSW 17 35,835,597 (GRCm39) missense possibly damaging 0.83
R6146:Cchcr1 UTSW 17 35,839,475 (GRCm39) missense possibly damaging 0.92
R6262:Cchcr1 UTSW 17 35,841,413 (GRCm39) missense probably benign 0.04
R6369:Cchcr1 UTSW 17 35,839,073 (GRCm39) missense probably damaging 0.99
R6478:Cchcr1 UTSW 17 35,835,600 (GRCm39) missense possibly damaging 0.71
R6827:Cchcr1 UTSW 17 35,841,302 (GRCm39) missense possibly damaging 0.71
R6860:Cchcr1 UTSW 17 35,840,015 (GRCm39) missense possibly damaging 0.85
R7109:Cchcr1 UTSW 17 35,828,838 (GRCm39) critical splice donor site probably null
R7276:Cchcr1 UTSW 17 35,840,031 (GRCm39) missense possibly damaging 0.46
R7341:Cchcr1 UTSW 17 35,837,610 (GRCm39) missense probably benign 0.00
R7404:Cchcr1 UTSW 17 35,835,693 (GRCm39) missense probably benign 0.09
R7472:Cchcr1 UTSW 17 35,839,248 (GRCm39) missense probably damaging 1.00
R7666:Cchcr1 UTSW 17 35,837,383 (GRCm39) missense probably benign 0.01
R8189:Cchcr1 UTSW 17 35,837,563 (GRCm39) missense probably benign
R9276:Cchcr1 UTSW 17 35,841,105 (GRCm39) missense probably damaging 1.00
R9758:Cchcr1 UTSW 17 35,839,285 (GRCm39) critical splice donor site probably null
X0025:Cchcr1 UTSW 17 35,837,573 (GRCm39) missense probably benign 0.13
Z1177:Cchcr1 UTSW 17 35,839,560 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGTACGAGTACAGAGCCTC -3'
(R):5'- ACTCAAGCTCCGTGAGAACG -3'

Sequencing Primer
(F):5'- GAAGGTAGGACCCTCCCTCATC -3'
(R):5'- TGAGAACGGGGACTCCTC -3'
Posted On 2017-08-16