Incidental Mutation 'IGL01682:C2cd6'
ID103843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd6
Ensembl Gene ENSMUSG00000072295
Gene NameC2 calcium dependent domain containing 6
Synonyms4930408G06Rik, Als2cr11, 1700052H20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01682
Quality Score
Status
Chromosome1
Chromosomal Location59050506-59094900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 59062501 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 333 (Y333S)
Ref Sequence ENSEMBL: ENSMUSP00000094845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097080]
Predicted Effect probably damaging
Transcript: ENSMUST00000097080
AA Change: Y333S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: Y333S

DomainStartEndE-ValueType
low complexity region 99 126 N/A INTRINSIC
Pfam:ALS2CR11 128 533 1.2e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188707
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,357,627 probably benign Het
Atp2c1 C T 9: 105,452,842 G93D probably damaging Het
Cacna1a A G 8: 84,536,438 E414G possibly damaging Het
Capn10 C A 1: 92,940,384 T191K probably benign Het
Cd226 A T 18: 89,269,063 R328S probably damaging Het
Cdk10 A G 8: 123,227,658 probably null Het
Cyp4a31 T A 4: 115,578,031 V486D probably damaging Het
Dgke A T 11: 89,052,441 L241I probably damaging Het
Dnah6 G T 6: 73,075,802 A2965E probably damaging Het
Fbn2 A T 18: 58,072,671 C1112S probably damaging Het
Gm10228 T A 16: 89,041,185 Y77F unknown Het
Gng3 T C 19: 8,838,580 I25V probably benign Het
Gramd2 A G 9: 59,712,110 I61M possibly damaging Het
Hcar2 T C 5: 123,864,519 N307S probably benign Het
Iars G A 13: 49,709,658 E529K probably damaging Het
Ilvbl C T 10: 78,577,107 probably benign Het
Lrp1 T C 10: 127,574,978 K1447R probably benign Het
Mmp20 A G 9: 7,671,375 D426G probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr1289 G A 2: 111,483,843 G138S probably damaging Het
Olfr568 C T 7: 102,877,233 L38F probably benign Het
Pip4k2a A G 2: 18,997,968 S10P probably benign Het
Pth1r A T 9: 110,723,706 probably null Het
Rprd1b T C 2: 158,050,160 I201T probably damaging Het
Rsbn1 A G 3: 103,962,380 N719S probably benign Het
Sorcs1 C T 19: 50,181,506 G939E probably benign Het
Ssfa2 A G 2: 79,635,637 Q33R probably damaging Het
St8sia5 A G 18: 77,248,500 K210E probably damaging Het
Trav3-1 G A 14: 52,581,192 V108M probably benign Het
Washc4 T C 10: 83,580,306 I820T possibly damaging Het
Other mutations in C2cd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:C2cd6 APN 1 59077945 missense probably damaging 0.97
IGL01012:C2cd6 APN 1 58997348 unclassified probably benign
IGL01834:C2cd6 APN 1 58997445 unclassified probably benign
IGL01982:C2cd6 APN 1 59067773 splice site probably benign
IGL02027:C2cd6 APN 1 59060604 missense probably benign 0.12
IGL02069:C2cd6 APN 1 59052541 splice site probably benign
IGL02232:C2cd6 APN 1 59062492 missense probably damaging 0.99
IGL02280:C2cd6 APN 1 59077881 critical splice donor site probably null
IGL02392:C2cd6 APN 1 59094838 missense probably benign 0.00
IGL02440:C2cd6 APN 1 59075100 missense probably benign 0.14
IGL02469:C2cd6 APN 1 58997481 unclassified probably benign
IGL02660:C2cd6 APN 1 59051230 missense probably damaging 1.00
IGL02720:C2cd6 APN 1 59051148 missense probably damaging 0.98
IGL03340:C2cd6 APN 1 59076671 missense probably benign 0.07
R1472:C2cd6 UTSW 1 59067785 missense possibly damaging 0.92
R1476:C2cd6 UTSW 1 59076728 splice site probably benign
R1753:C2cd6 UTSW 1 59094833 missense possibly damaging 0.53
R3724:C2cd6 UTSW 1 59066235 splice site probably benign
R4887:C2cd6 UTSW 1 59094734 missense probably benign 0.00
R5115:C2cd6 UTSW 1 59051261 missense probably benign 0.12
R6406:C2cd6 UTSW 1 59058676 missense possibly damaging 0.60
R6467:C2cd6 UTSW 1 59077934 missense probably benign 0.01
R6697:C2cd6 UTSW 1 59051088 small deletion probably benign
R6801:C2cd6 UTSW 1 59094583 frame shift probably null
R6882:C2cd6 UTSW 1 59066159 missense probably damaging 0.99
R7468:C2cd6 UTSW 1 59068685 missense probably benign
R7821:C2cd6 UTSW 1 59067792 nonsense probably null
Posted On2014-01-21