Incidental Mutation 'IGL02723:Cchcr1'
ID305060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cchcr1
Ensembl Gene ENSMUSG00000040312
Gene Namecoiled-coil alpha-helical rod protein 1
SynonymsHcr
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.347) question?
Stock #IGL02723
Quality Score
Status
Chromosome17
Chromosomal Location35517100-35531015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 35530802 bp
ZygosityHeterozygous
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]
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
4930452B06Rik T C 14: 8,516,507 N347S probably benign Het
Capn9 A T 8: 124,609,183 probably benign Het
Csk G T 9: 57,631,389 probably benign Het
Cyp2j7 T C 4: 96,230,129 K76E probably benign Het
Dpep1 G A 8: 123,194,149 A23T possibly damaging Het
Dpp8 T A 9: 65,042,267 M98K possibly damaging Het
Dspp C A 5: 104,175,175 N61K probably benign Het
Eno2 T C 6: 124,761,663 Y364C probably damaging Het
Gfra1 A G 19: 58,453,251 S83P probably benign Het
Gramd1b T C 9: 40,306,831 E563G probably damaging Het
Kcns2 G T 15: 34,838,815 W108L probably damaging Het
Mroh4 T C 15: 74,608,237 probably benign Het
Obscn A T 11: 59,124,620 S1009T probably benign Het
Olfr1381 A G 11: 49,552,679 R311G probably benign Het
Olfr1475 A G 19: 13,479,335 Y288H probably damaging Het
Olfr850 T C 9: 19,477,509 H244R probably damaging Het
Olfr890 A G 9: 38,143,411 K92R probably benign Het
Plcb2 G A 2: 118,717,019 probably benign Het
Rpl13a-ps1 T A 19: 50,030,672 I22F possibly damaging Het
Skil A G 3: 31,117,524 E599G probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Spata31 T C 13: 64,920,649 S204P probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A T 8: 48,276,903 V1356E probably benign Het
Trpc3 T A 3: 36,650,228 I527F probably benign Het
Vmn2r69 A G 7: 85,410,208 W498R probably damaging Het
Vwde T A 6: 13,205,760 I263L probably damaging Het
Vwf G T 6: 125,642,930 V1524L possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Cchcr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Cchcr1 APN 17 35528572 missense possibly damaging 0.92
IGL02806:Cchcr1 APN 17 35525256 splice site probably benign
IGL03055:Cchcr1 UTSW 17 35526619 missense probably benign 0.33
R0569:Cchcr1 UTSW 17 35528968 critical splice donor site probably null
R1438:Cchcr1 UTSW 17 35530560 critical splice donor site probably null
R2055:Cchcr1 UTSW 17 35526420 missense probably damaging 1.00
R2511:Cchcr1 UTSW 17 35530513 missense probably benign 0.01
R3910:Cchcr1 UTSW 17 35525336 missense probably damaging 1.00
R3911:Cchcr1 UTSW 17 35525336 missense probably damaging 1.00
R3913:Cchcr1 UTSW 17 35525336 missense probably damaging 1.00
R5590:Cchcr1 UTSW 17 35526680 missense probably damaging 1.00
R5821:Cchcr1 UTSW 17 35528848 missense probably damaging 1.00
R5940:Cchcr1 UTSW 17 35524993 missense probably damaging 1.00
R5941:Cchcr1 UTSW 17 35524993 missense probably damaging 1.00
R6006:Cchcr1 UTSW 17 35524700 missense possibly damaging 0.83
R6114:Cchcr1 UTSW 17 35525330 missense probably damaging 0.98
R6146:Cchcr1 UTSW 17 35528578 missense possibly damaging 0.92
R6262:Cchcr1 UTSW 17 35530516 missense probably benign 0.04
R6369:Cchcr1 UTSW 17 35528176 missense probably damaging 0.99
R6478:Cchcr1 UTSW 17 35524703 missense possibly damaging 0.71
R6827:Cchcr1 UTSW 17 35530405 missense possibly damaging 0.71
R6860:Cchcr1 UTSW 17 35529118 missense possibly damaging 0.85
R7109:Cchcr1 UTSW 17 35517941 critical splice donor site probably null
R7276:Cchcr1 UTSW 17 35529134 missense possibly damaging 0.46
R7341:Cchcr1 UTSW 17 35526713 missense probably benign 0.00
R7404:Cchcr1 UTSW 17 35524796 missense probably benign 0.09
R7472:Cchcr1 UTSW 17 35528351 missense probably damaging 1.00
R7666:Cchcr1 UTSW 17 35526486 missense probably benign 0.01
X0025:Cchcr1 UTSW 17 35526676 missense probably benign 0.13
Z1177:Cchcr1 UTSW 17 35528663 missense probably damaging 0.99
Posted On2015-04-16