Incidental Mutation 'IGL02723:Cchcr1'
ID 305060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cchcr1
Ensembl Gene ENSMUSG00000040312
Gene Name coiled-coil alpha-helical rod protein 1
Synonyms Hcr
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # IGL02723
Quality Score
Status
Chromosome 17
Chromosomal Location 35827997-35841912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35841699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 761 (K761Q)
Ref Sequence ENSEMBL: ENSMUSP00000132028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025273] [ENSMUST00000045956] [ENSMUST00000164242] [ENSMUST00000173903]
AlphaFold Q8K2I2
Predicted Effect probably benign
Transcript: ENSMUST00000025273
SMART Domains Protein: ENSMUSP00000025273
Gene: ENSMUSG00000024409

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:SPR1 22 135 1.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045956
AA Change: K761Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312
AA Change: K761Q

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164242
AA Change: K761Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312
AA Change: K761Q

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172893
Predicted Effect probably benign
Transcript: ENSMUST00000173903
AA Change: K858Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312
AA Change: K858Q

DomainStartEndE-ValueType
Pfam:HCR 110 855 N/A PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn9 A T 8: 125,335,922 (GRCm39) probably benign Het
Cfap20dc T C 14: 8,516,507 (GRCm38) N347S probably benign Het
Csk G T 9: 57,538,672 (GRCm39) probably benign Het
Cyp2j7 T C 4: 96,118,366 (GRCm39) K76E probably benign Het
Dpep1 G A 8: 123,920,888 (GRCm39) A23T possibly damaging Het
Dpp8 T A 9: 64,949,549 (GRCm39) M98K possibly damaging Het
Dspp C A 5: 104,323,041 (GRCm39) N61K probably benign Het
Eno2 T C 6: 124,738,626 (GRCm39) Y364C probably damaging Het
Gfra1 A G 19: 58,441,683 (GRCm39) S83P probably benign Het
Gramd1b T C 9: 40,218,127 (GRCm39) E563G probably damaging Het
Kcns2 G T 15: 34,838,961 (GRCm39) W108L probably damaging Het
Mroh4 T C 15: 74,480,086 (GRCm39) probably benign Het
Obscn A T 11: 59,015,446 (GRCm39) S1009T probably benign Het
Or2y11 A G 11: 49,443,506 (GRCm39) R311G probably benign Het
Or5b119 A G 19: 13,456,699 (GRCm39) Y288H probably damaging Het
Or7g32 T C 9: 19,388,805 (GRCm39) H244R probably damaging Het
Or8b41 A G 9: 38,054,707 (GRCm39) K92R probably benign Het
Plcb2 G A 2: 118,547,500 (GRCm39) probably benign Het
Rpl13a-ps1 T A 19: 50,019,111 (GRCm39) I22F possibly damaging Het
Skil A G 3: 31,171,673 (GRCm39) E599G probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Spata31 T C 13: 65,068,463 (GRCm39) S204P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tenm3 A T 8: 48,729,938 (GRCm39) V1356E probably benign Het
Trpc3 T A 3: 36,704,377 (GRCm39) I527F probably benign Het
Vmn2r69 A G 7: 85,059,416 (GRCm39) W498R probably damaging Het
Vwde T A 6: 13,205,759 (GRCm39) I263L probably damaging Het
Vwf G T 6: 125,619,893 (GRCm39) V1524L possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Cchcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Cchcr1 APN 17 35,839,469 (GRCm39) missense possibly damaging 0.92
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
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
Posted On 2015-04-16