Incidental Mutation 'R5284:Cactin'
ID 402948
Institutional Source Beutler Lab
Gene Symbol Cactin
Ensembl Gene ENSMUSG00000034889
Gene Name cactin, spliceosome C complex subunit
Synonyms 2510012J08Rik
MMRRC Submission 042841-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # R5284 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 81156937-81162076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81159596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 51 (D51G)
Ref Sequence ENSEMBL: ENSMUSP00000151248 (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 probably damaging
Transcript: ENSMUST00000050867
AA Change: D365G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889
AA Change: D365G

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 damaging
Transcript: ENSMUST00000218120
AA Change: D51G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219285
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,483 (GRCm39) Q1259L probably benign Het
Arhgef26 T C 3: 62,327,052 (GRCm39) S522P probably damaging Het
Asic5 C T 3: 81,915,830 (GRCm39) P218L probably damaging Het
Atad1 T C 19: 32,664,671 (GRCm39) M248V probably benign Het
Bank1 T C 3: 135,769,915 (GRCm39) D522G probably damaging Het
Bod1l G A 5: 41,977,810 (GRCm39) S1168L probably benign Het
Camkk1 A G 11: 72,928,381 (GRCm39) D261G probably benign Het
Cep152 A G 2: 125,421,941 (GRCm39) S930P probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crim1 A T 17: 78,620,695 (GRCm39) R378S possibly damaging Het
Dcun1d4 T C 5: 73,680,025 (GRCm39) probably null Het
Dhdds A G 4: 133,707,523 (GRCm39) V187A probably benign Het
Ecpas C T 4: 58,836,172 (GRCm39) E723K possibly damaging Het
Egfem1 A G 3: 29,704,936 (GRCm39) E251G possibly damaging Het
Ehhadh T C 16: 21,582,094 (GRCm39) probably null Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Epb41l4a T A 18: 33,931,853 (GRCm39) T581S probably damaging Het
Erg C T 16: 95,260,102 (GRCm39) M1I probably null Het
Fastkd1 T C 2: 69,542,532 (GRCm39) T92A probably benign Het
Gabpb1 T C 2: 126,494,277 (GRCm39) H116R possibly damaging Het
Gucy2c A G 6: 136,740,041 (GRCm39) L262P possibly damaging Het
Ifi203 C T 1: 173,756,274 (GRCm39) probably benign Het
Kcnk13 A C 12: 100,027,548 (GRCm39) I208L probably benign Het
Klhl7 A G 5: 24,364,615 (GRCm39) T550A probably benign Het
Krtap12-1 G T 10: 77,556,799 (GRCm39) C114F possibly damaging Het
Myh7b A G 2: 155,474,234 (GRCm39) T1650A probably benign Het
Myo19 T A 11: 84,776,098 (GRCm39) probably null Het
Nav1 C T 1: 135,377,701 (GRCm39) W1656* probably null Het
Nup188 A T 2: 30,220,647 (GRCm39) S907C probably damaging Het
Oplah A T 15: 76,190,759 (GRCm39) H125Q probably benign Het
Or6d12 T A 6: 116,493,513 (GRCm39) Y258* probably null Het
Pcnx1 A T 12: 81,965,803 (GRCm39) T657S probably benign Het
Phf14 C A 6: 11,997,119 (GRCm39) Q796K probably damaging Het
Plaa T C 4: 94,457,874 (GRCm39) I699V probably benign Het
Prex2 C A 1: 11,336,314 (GRCm39) S1504* probably null Het
Prpf18 G A 2: 4,650,481 (GRCm39) Q50* probably null Het
Rnf213 A G 11: 119,349,692 (GRCm39) Y3851C possibly damaging Het
Rpgrip1 A G 14: 52,386,733 (GRCm39) D726G probably damaging Het
Sacm1l T C 9: 123,415,485 (GRCm39) S487P probably damaging Het
Setdb1 G T 3: 95,234,881 (GRCm39) R941S probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Smg8 G A 11: 86,971,137 (GRCm39) S878L possibly damaging Het
Trpc4 T A 3: 54,187,368 (GRCm39) V440E probably damaging Het
Tsen15 A G 1: 152,247,624 (GRCm39) S123P probably damaging Het
Tspan12 G T 6: 21,835,466 (GRCm39) A69D probably damaging Het
Ubiad1 G A 4: 148,520,955 (GRCm39) T223M probably damaging Het
Ubtfl1 A T 9: 18,320,741 (GRCm39) K90* probably null Het
Wdr19 C T 5: 65,382,752 (GRCm39) T492I probably damaging Het
Zfp423 C T 8: 88,508,305 (GRCm39) D659N possibly 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
R6126:Cactin UTSW 10 81,160,143 (GRCm39) missense possibly damaging 0.61
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'- AGTCTGAACCTGTTTGGCTG -3'
(R):5'- CAGAAGTCCACATTCTTGCCC -3'

Sequencing Primer
(F):5'- TGTGCCAGCGGAACTCTG -3'
(R):5'- CTGCTCTAGTTCCATGTACACCTG -3'
Posted On 2016-07-22