Incidental Mutation 'IGL02484:Cactin'
ID295377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cactin
Ensembl Gene ENSMUSG00000034889
Gene Namecactin, spliceosome C complex subunit
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.379) question?
Stock #IGL02484
Quality Score
Status
Chromosome10
Chromosomal Location81321103-81326242 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81322974 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 258 (I258N)
Ref Sequence ENSEMBL: ENSMUSP00000059533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000050867] [ENSMUST00000105327] [ENSMUST00000161854] [ENSMUST00000161869] [ENSMUST00000163075] [ENSMUST00000218120]
Predicted Effect probably benign
Transcript: ENSMUST00000045469
SMART Domains Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
PIPKc 103 444 2.72e-164 SMART
low complexity region 518 534 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
low complexity region 601 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050867
AA Change: I258N

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889
AA Change: I258N

DomainStartEndE-ValueType
low complexity region 9 101 N/A INTRINSIC
low complexity region 128 149 N/A INTRINSIC
coiled coil region 157 184 N/A INTRINSIC
low complexity region 186 206 N/A INTRINSIC
low complexity region 246 253 N/A INTRINSIC
Pfam:Cactin_mid 292 479 2.1e-68 PFAM
low complexity region 507 524 N/A INTRINSIC
low complexity region 531 558 N/A INTRINSIC
low complexity region 596 607 N/A INTRINSIC
CactinC_cactus 648 772 2.13e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105327
SMART Domains Protein: ENSMUSP00000100964
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
PIPKc 103 444 2.72e-164 SMART
low complexity region 518 534 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
low complexity region 601 628 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159636
Predicted Effect probably benign
Transcript: ENSMUST00000161586
SMART Domains Protein: ENSMUSP00000124612
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
low complexity region 54 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161854
SMART Domains Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161869
SMART Domains Protein: ENSMUSP00000124235
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163075
SMART Domains Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
PIPKc 103 444 2.72e-164 SMART
low complexity region 518 534 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
low complexity region 601 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219285
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,563,352 noncoding transcript Het
Araf A G X: 20,853,909 probably benign Het
Arrb2 T A 11: 70,439,474 V308E probably damaging Het
Asap3 A G 4: 136,229,457 probably benign Het
Astn2 G A 4: 65,992,279 probably benign Het
Catsperg1 T C 7: 29,210,920 probably benign Het
Ccna1 C T 3: 55,048,494 D146N probably benign Het
Chrna3 T C 9: 55,015,537 Y329C probably damaging Het
Ctps2 G A X: 162,910,009 G56D probably damaging Het
Cyp4b1 T C 4: 115,647,557 D44G probably benign Het
D3Ertd751e A G 3: 41,753,720 probably null Het
Daxx T C 17: 33,912,242 V381A probably damaging Het
Dhx37 T A 5: 125,419,337 I714F possibly damaging Het
Dnah7b T C 1: 46,195,318 V1470A probably damaging Het
Efl1 T C 7: 82,683,039 I297T probably damaging Het
Fam26f T C 10: 34,126,404 T228A probably benign Het
Fnd3c2 A T X: 106,245,486 H442Q probably damaging Het
Glp2r A C 11: 67,740,166 V126G possibly damaging Het
Gm5699 G T 1: 30,998,762 noncoding transcript Het
Gpt2 A G 8: 85,516,233 D298G probably damaging Het
Gse1 G T 8: 120,575,262 probably benign Het
Hand1 T C 11: 57,831,594 T65A probably benign Het
Ints8 G A 4: 11,208,834 Q955* probably null Het
Lrguk C T 6: 34,092,791 P534S probably damaging Het
Lrp6 A G 6: 134,541,923 F60L probably benign Het
Mamld1 T C X: 71,118,652 I423T possibly damaging Het
Mrpl22 G A 11: 58,173,062 S36N possibly damaging Het
Mug2 A G 6: 122,072,753 E915G probably damaging Het
Olfr1442 T C 19: 12,674,859 F218S possibly damaging Het
Olfr493 C T 7: 108,346,606 R125Q probably damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pde4c T A 8: 70,748,052 probably benign Het
Pdxdc1 T C 16: 13,876,081 E159G possibly damaging Het
Poln T C 5: 34,129,377 E149G probably damaging Het
Pou5f2 T G 13: 78,025,905 L322R probably damaging Het
Ppm1k A T 6: 57,525,012 S55R possibly damaging Het
Ptges2 T A 2: 32,397,707 I149N probably damaging Het
Pus7l A G 15: 94,529,488 V471A possibly damaging Het
Raet1e A T 10: 22,180,767 M81L probably benign Het
Sipa1l3 A G 7: 29,399,531 S438P probably damaging Het
Skint5 T A 4: 113,942,553 K126* probably null Het
Stfa2 T C 16: 36,405,207 T37A probably damaging Het
Ttll12 A G 15: 83,581,696 I433T possibly damaging Het
Vmn2r32 C T 7: 7,464,117 G804D probably damaging Het
Zc3h14 A G 12: 98,774,301 T84A probably benign Het
Other mutations in Cactin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Cactin APN 10 81324350 missense possibly damaging 0.93
IGL01631:Cactin APN 10 81323224 missense probably benign 0.03
IGL01816:Cactin APN 10 81325865 missense possibly damaging 0.81
IGL03001:Cactin APN 10 81325734 missense probably damaging 1.00
R0241:Cactin UTSW 10 81322652 missense probably benign
R0241:Cactin UTSW 10 81322652 missense probably benign
R0326:Cactin UTSW 10 81322662 missense probably benign 0.01
R0570:Cactin UTSW 10 81323233 missense probably damaging 0.98
R0591:Cactin UTSW 10 81324003 nonsense probably null
R1429:Cactin UTSW 10 81323678 missense probably damaging 1.00
R1444:Cactin UTSW 10 81322436 unclassified probably null
R1470:Cactin UTSW 10 81323151 nonsense probably null
R1470:Cactin UTSW 10 81323151 nonsense probably null
R1630:Cactin UTSW 10 81323725 missense probably benign 0.26
R2022:Cactin UTSW 10 81322893 missense possibly damaging 0.94
R3401:Cactin UTSW 10 81325875 missense probably benign 0.07
R3402:Cactin UTSW 10 81325875 missense probably benign 0.07
R3403:Cactin UTSW 10 81325875 missense probably benign 0.07
R5284:Cactin UTSW 10 81323762 missense probably damaging 1.00
R6126:Cactin UTSW 10 81324309 missense possibly damaging 0.61
R6127:Cactin UTSW 10 81324309 missense possibly damaging 0.61
R6907:Cactin UTSW 10 81323444 critical splice donor site probably null
R7339:Cactin UTSW 10 81321318 unclassified probably benign
R7340:Cactin UTSW 10 81321318 unclassified probably benign
R7558:Cactin UTSW 10 81321318 unclassified probably benign
R7625:Cactin UTSW 10 81321318 unclassified probably benign
R7627:Cactin UTSW 10 81321318 unclassified probably benign
Posted On2015-04-16