Incidental Mutation 'R3913:Cchcr1'
ID 309535
Institutional Source Beutler Lab
Gene Symbol Cchcr1
Ensembl Gene ENSMUSG00000040312
Gene Name coiled-coil alpha-helical rod protein 1
Synonyms Hcr
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35827997-35841912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35836233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 341 (V341A)
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: V341A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: V341A

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164242
AA Change: V341A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: V341A

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: V424A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: V424A

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 0.8327 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly 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
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
R6114:Cchcr1 UTSW 17 35,836,227 (GRCm39) missense probably damaging 0.98
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'- GACCCCTAAACTCCTCACTGTG -3'
(R):5'- TATGACAATGTGACGCCTACCC -3'

Sequencing Primer
(F):5'- TAAACTCCTCACTGTGGACGG -3'
(R):5'- TTCTAGAACTCAAGCTCCGTGAG -3'
Posted On 2015-04-17