Incidental Mutation 'R6126:Cactin'
ID 487406
Institutional Source Beutler Lab
Gene Symbol Cactin
Ensembl Gene ENSMUSG00000034889
Gene Name cactin, spliceosome C complex subunit
Synonyms 2510012J08Rik
MMRRC Submission 044273-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R6126 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81156937-81162076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81160143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 412 (R412H)
Ref Sequence ENSEMBL: ENSMUSP00000059533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000050867] [ENSMUST00000105325] [ENSMUST00000161854] [ENSMUST00000163075] [ENSMUST00000218120] [ENSMUST00000220312]
AlphaFold Q9CS00
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 possibly damaging
Transcript: ENSMUST00000050867
AA Change: R412H

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889
AA Change: R412H

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: ENSMUST00000105325
SMART Domains Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881

DomainStartEndE-ValueType
Pfam:7tm_1 41 305 2.1e-24 PFAM
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: 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
AA Change: R98H

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219285
Predicted Effect probably benign
Transcript: ENSMUST00000220312
Meta Mutation Damage Score 0.2409 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 93% (51/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,963,881 (GRCm39) R111H probably damaging Het
Alk G A 17: 72,182,037 (GRCm39) L1329F possibly damaging Het
Apoh A T 11: 108,288,199 (GRCm39) I106F probably damaging Het
Atp8a2 C T 14: 60,281,775 (GRCm39) M126I probably benign Het
Chd7 T C 4: 8,826,482 (GRCm39) S949P probably damaging Het
Clec11a C T 7: 43,954,345 (GRCm39) A203T probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dst T A 1: 34,267,264 (GRCm39) I5080K probably damaging Het
Ecd T C 14: 20,388,493 (GRCm39) probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fan1 T A 7: 64,014,318 (GRCm39) K638* probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fig4 A G 10: 41,141,443 (GRCm39) I272T probably damaging Het
Foxd2 C A 4: 114,765,702 (GRCm39) G106V unknown Het
Ggcx A T 6: 72,394,966 (GRCm39) M115L possibly damaging Het
Gm21976 G A 13: 98,423,821 (GRCm39) R72H unknown Het
Hsf2 T C 10: 57,372,013 (GRCm39) V38A probably damaging Het
Ifi208 A G 1: 173,505,274 (GRCm39) Y8C possibly damaging Het
Il31ra A C 13: 112,666,908 (GRCm39) L390R probably damaging Het
Kif1a A T 1: 92,947,621 (GRCm39) Y1614N probably damaging Het
Mef2b C A 8: 70,619,526 (GRCm39) T267K probably benign Het
Mfsd8 A G 3: 40,786,446 (GRCm39) probably null Het
Mnx1 G T 5: 29,683,110 (GRCm39) A55E possibly damaging Het
Muc5ac A T 7: 141,354,969 (GRCm39) I949F possibly damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Ntpcr G A 8: 126,462,626 (GRCm39) probably null Het
Or12j3 T G 7: 139,953,166 (GRCm39) Y119S probably damaging Het
Otx1 T C 11: 21,946,457 (GRCm39) probably benign Het
Panx1 T A 9: 14,919,086 (GRCm39) I258F probably benign Het
Pask T C 1: 93,242,081 (GRCm39) Y1212C probably damaging Het
Pdgfra A G 5: 75,331,190 (GRCm39) K265R probably benign Het
Phf20l1 A G 15: 66,508,673 (GRCm39) H844R probably benign Het
Ppp6r1 T C 7: 4,646,376 (GRCm39) T136A possibly damaging Het
Rab35 A G 5: 115,783,767 (GRCm39) N185D probably benign Het
Rdh1 A T 10: 127,599,083 (GRCm39) D188V probably damaging Het
Rimbp3 A T 16: 17,030,140 (GRCm39) D1188V probably benign Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr1 A C 7: 28,775,664 (GRCm39) D2282E probably null Het
Ryr3 A G 2: 112,588,015 (GRCm39) L2642P probably damaging Het
Sez6 A T 11: 77,864,630 (GRCm39) Y530F probably damaging Het
Slc12a2 A G 18: 58,077,116 (GRCm39) Y1205C possibly damaging Het
Slc4a5 A T 6: 83,203,247 (GRCm39) H49L probably benign Het
Smchd1 A T 17: 71,677,280 (GRCm39) V1503D probably damaging Het
Spata31e3 G T 13: 50,400,326 (GRCm39) Q667K probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tex15 A G 8: 34,063,591 (GRCm39) N1007S probably benign Het
Tpk1 A T 6: 43,400,594 (GRCm39) C143S probably damaging Het
Wdr20 A T 12: 110,760,536 (GRCm39) H474L probably benign Het
Wnk4 A G 11: 101,167,174 (GRCm39) probably benign Het
Zfp292 T C 4: 34,808,497 (GRCm39) T1516A probably benign Het
Zfp462 G A 4: 55,023,573 (GRCm39) A2121T probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Cactin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Cactin APN 10 81,160,184 (GRCm39) missense possibly damaging 0.93
IGL01631:Cactin APN 10 81,159,058 (GRCm39) missense probably benign 0.03
IGL01816:Cactin APN 10 81,161,699 (GRCm39) missense possibly damaging 0.81
IGL02484:Cactin APN 10 81,158,808 (GRCm39) missense probably benign 0.09
IGL03001:Cactin APN 10 81,161,568 (GRCm39) missense probably damaging 1.00
R0241:Cactin UTSW 10 81,158,486 (GRCm39) missense probably benign
R0241:Cactin UTSW 10 81,158,486 (GRCm39) missense probably benign
R0326:Cactin UTSW 10 81,158,496 (GRCm39) missense probably benign 0.01
R0570:Cactin UTSW 10 81,159,067 (GRCm39) missense probably damaging 0.98
R0591:Cactin UTSW 10 81,159,837 (GRCm39) nonsense probably null
R1429:Cactin UTSW 10 81,159,512 (GRCm39) missense probably damaging 1.00
R1444:Cactin UTSW 10 81,158,270 (GRCm39) splice site probably null
R1470:Cactin UTSW 10 81,158,985 (GRCm39) nonsense probably null
R1470:Cactin UTSW 10 81,158,985 (GRCm39) nonsense probably null
R1630:Cactin UTSW 10 81,159,559 (GRCm39) missense probably benign 0.26
R2022:Cactin UTSW 10 81,158,727 (GRCm39) missense possibly damaging 0.94
R3401:Cactin UTSW 10 81,161,709 (GRCm39) missense probably benign 0.07
R3402:Cactin UTSW 10 81,161,709 (GRCm39) missense probably benign 0.07
R3403:Cactin UTSW 10 81,161,709 (GRCm39) missense probably benign 0.07
R5284:Cactin UTSW 10 81,159,596 (GRCm39) missense probably damaging 1.00
R6127:Cactin UTSW 10 81,160,143 (GRCm39) missense possibly damaging 0.61
R6907:Cactin UTSW 10 81,159,278 (GRCm39) critical splice donor site probably null
R7339:Cactin UTSW 10 81,157,152 (GRCm39) unclassified probably benign
R7340:Cactin UTSW 10 81,157,152 (GRCm39) unclassified probably benign
R7558:Cactin UTSW 10 81,157,152 (GRCm39) unclassified probably benign
R7625:Cactin UTSW 10 81,157,152 (GRCm39) unclassified probably benign
R7627:Cactin UTSW 10 81,157,152 (GRCm39) unclassified probably benign
R7904:Cactin UTSW 10 81,161,699 (GRCm39) missense possibly damaging 0.81
R8825:Cactin UTSW 10 81,161,492 (GRCm39) missense probably damaging 0.99
R8885:Cactin UTSW 10 81,157,082 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTAAGGAGCCTCAGGGAATG -3'
(R):5'- TCACTAAAGAAGCACTGGTCAGG -3'

Sequencing Primer
(F):5'- TCAGGGAATGGCCGCAG -3'
(R):5'- AAGGCCCTGTGAAAGCCTC -3'
Posted On 2017-10-10