Incidental Mutation 'IGL02440:C2cd6'
ID293434
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: 0.049) question?
Stock #IGL02440
Quality Score
Status
Chromosome1
Chromosomal Location59050506-59094900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59075100 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 182 (I182T)
Ref Sequence ENSEMBL: ENSMUSP00000094845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097080]
Predicted Effect probably benign
Transcript: ENSMUST00000097080
AA Change: I182T

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: I182T

DomainStartEndE-ValueType
low complexity region 99 126 N/A INTRINSIC
Pfam:ALS2CR11 128 533 1.2e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149784
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 probably benign 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
IGL01682:C2cd6 APN 1 59062501 missense probably damaging 1.00
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
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
R8338:C2cd6 UTSW 1 59060575 missense probably benign 0.00
R8368:C2cd6 UTSW 1 59094661 missense probably benign 0.33
Posted On2015-04-16