Incidental Mutation 'R1844:Cabin1'
ID 207563
Institutional Source Beutler Lab
Gene Symbol Cabin1
Ensembl Gene ENSMUSG00000020196
Gene Name calcineurin binding protein 1
Synonyms A330070M20Rik, Ppp3in, Cain
MMRRC Submission 039869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1844 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75481946-75600175 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 75579184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001712] [ENSMUST00000001712] [ENSMUST00000001712]
AlphaFold G3X8Q1
Predicted Effect probably null
Transcript: ENSMUST00000001712
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196

DomainStartEndE-ValueType
low complexity region 61 71 N/A INTRINSIC
TPR 90 123 4.15e-2 SMART
TPR 124 157 5.69e0 SMART
low complexity region 312 326 N/A INTRINSIC
low complexity region 365 381 N/A INTRINSIC
TPR 615 648 9.7e0 SMART
low complexity region 740 750 N/A INTRINSIC
low complexity region 882 892 N/A INTRINSIC
TPR 1055 1088 6.92e1 SMART
low complexity region 1327 1349 N/A INTRINSIC
low complexity region 1714 1727 N/A INTRINSIC
low complexity region 1778 1790 N/A INTRINSIC
low complexity region 1791 1803 N/A INTRINSIC
low complexity region 1810 1831 N/A INTRINSIC
low complexity region 1941 1956 N/A INTRINSIC
Pfam:MEF2_binding 2123 2157 5.7e-26 PFAM
low complexity region 2165 2183 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000001712
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196

DomainStartEndE-ValueType
low complexity region 61 71 N/A INTRINSIC
TPR 90 123 4.15e-2 SMART
TPR 124 157 5.69e0 SMART
low complexity region 312 326 N/A INTRINSIC
low complexity region 365 381 N/A INTRINSIC
TPR 615 648 9.7e0 SMART
low complexity region 740 750 N/A INTRINSIC
low complexity region 882 892 N/A INTRINSIC
TPR 1055 1088 6.92e1 SMART
low complexity region 1327 1349 N/A INTRINSIC
low complexity region 1714 1727 N/A INTRINSIC
low complexity region 1778 1790 N/A INTRINSIC
low complexity region 1791 1803 N/A INTRINSIC
low complexity region 1810 1831 N/A INTRINSIC
low complexity region 1941 1956 N/A INTRINSIC
Pfam:MEF2_binding 2123 2157 5.7e-26 PFAM
low complexity region 2165 2183 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000001712
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196

DomainStartEndE-ValueType
low complexity region 61 71 N/A INTRINSIC
TPR 90 123 4.15e-2 SMART
TPR 124 157 5.69e0 SMART
low complexity region 312 326 N/A INTRINSIC
low complexity region 365 381 N/A INTRINSIC
TPR 615 648 9.7e0 SMART
low complexity region 740 750 N/A INTRINSIC
low complexity region 882 892 N/A INTRINSIC
TPR 1055 1088 6.92e1 SMART
low complexity region 1327 1349 N/A INTRINSIC
low complexity region 1714 1727 N/A INTRINSIC
low complexity region 1778 1790 N/A INTRINSIC
low complexity region 1791 1803 N/A INTRINSIC
low complexity region 1810 1831 N/A INTRINSIC
low complexity region 1941 1956 N/A INTRINSIC
Pfam:MEF2_binding 2123 2157 5.7e-26 PFAM
low complexity region 2165 2183 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous null mutants exhibit embryonic lethality during organogenesis. Mice producing a truncated protein exhibit elevated levels of serum IgG1, IgG2b and IgE, produce more IgG1 in response to T-cell dependent antigen, and have enhanced expression of cytokines in response to anti-CD3 stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,197,566 (GRCm39) K857E probably benign Het
Adam20 A G 8: 41,249,080 (GRCm39) N397D probably benign Het
Adgrf3 T G 5: 30,404,211 (GRCm39) D347A probably damaging Het
Ang6 C T 14: 44,239,330 (GRCm39) E133K possibly damaging Het
Arhgap23 T A 11: 97,354,234 (GRCm39) W205R probably damaging Het
Arhgef40 C A 14: 52,235,080 (GRCm39) R1086S probably damaging Het
Atr G T 9: 95,787,870 (GRCm39) A1488S probably benign Het
Cby2 C T 14: 75,820,850 (GRCm39) V292I probably benign Het
Cdh22 A C 2: 164,985,614 (GRCm39) F324C probably damaging Het
Cep350 T C 1: 155,724,374 (GRCm39) I3075V probably damaging Het
Chd9 A T 8: 91,683,323 (GRCm39) K588* probably null Het
Clns1a A T 7: 97,346,066 (GRCm39) I44F probably damaging Het
Colgalt1 T C 8: 72,063,995 (GRCm39) I51T possibly damaging Het
Cpt2 C T 4: 107,761,452 (GRCm39) E217K possibly damaging Het
Ctss A G 3: 95,454,105 (GRCm39) probably null Het
Cyp1a1 A G 9: 57,609,980 (GRCm39) T465A probably benign Het
Dbn1 A G 13: 55,629,160 (GRCm39) probably null Het
Dennd1b A G 1: 139,018,143 (GRCm39) probably null Het
Dnajc1 A C 2: 18,298,838 (GRCm39) Y49* probably null Het
Dock10 T A 1: 80,520,918 (GRCm39) I1188L probably damaging Het
Dsg1c T G 18: 20,416,096 (GRCm39) probably null Het
Efcab6 G A 15: 83,851,822 (GRCm39) T352I possibly damaging Het
Eps8l3 T C 3: 107,786,902 (GRCm39) L26P possibly damaging Het
Fbxw26 A G 9: 109,553,946 (GRCm39) V231A probably benign Het
Fetub G A 16: 22,754,419 (GRCm39) E209K possibly damaging Het
Galc A T 12: 98,212,556 (GRCm39) probably null Het
Gm6871 A T 7: 41,222,892 (GRCm39) N65K probably benign Het
Gstp3 A G 19: 4,107,540 (GRCm39) I208T probably benign Het
Gtpbp3 A G 8: 71,945,272 (GRCm39) Y448C probably benign Het
Hdac7 G T 15: 97,705,857 (GRCm39) Q385K probably damaging Het
Hemgn C T 4: 46,396,655 (GRCm39) V194M possibly damaging Het
Idh2 G C 7: 79,748,625 (GRCm39) T113R probably benign Het
Jarid2 A C 13: 45,056,219 (GRCm39) K336T possibly damaging Het
Kcnj4 C T 15: 79,369,216 (GRCm39) V255M probably damaging Het
Ldhb C A 6: 142,439,934 (GRCm39) W202L probably damaging Het
Lmbrd2 T A 15: 9,177,838 (GRCm39) Y512* probably null Het
Lrp1 A G 10: 127,431,152 (GRCm39) probably null Het
Map3k12 G A 15: 102,411,970 (GRCm39) P365S probably damaging Het
Map3k5 G A 10: 19,979,909 (GRCm39) D806N probably benign Het
Matn3 A G 12: 9,017,662 (GRCm39) E438G possibly damaging Het
Mcmbp G A 7: 128,325,698 (GRCm39) L97F probably damaging Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Mphosph8 T C 14: 56,934,616 (GRCm39) V855A probably damaging Het
Mycbp2 T A 14: 103,393,150 (GRCm39) H3027L possibly damaging Het
Nbea C T 3: 55,989,857 (GRCm39) R333H probably damaging Het
Notch1 G T 2: 26,350,446 (GRCm39) H2231Q probably benign Het
Npas2 A T 1: 39,364,456 (GRCm39) H266L probably damaging Het
Oas3 A G 5: 120,898,045 (GRCm39) S833P probably damaging Het
Or1j15 T C 2: 36,458,789 (GRCm39) Y60H probably damaging Het
Or5ak24 T C 2: 85,260,265 (GRCm39) T303A probably benign Het
Or5w17 A C 2: 87,584,334 (GRCm39) M1R probably null Het
Or6c65 G A 10: 129,603,725 (GRCm39) R120H probably benign Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pitpnm1 T C 19: 4,162,395 (GRCm39) V1075A probably damaging Het
Pkp3 G A 7: 140,668,415 (GRCm39) V555M probably damaging Het
Plekhm2 T C 4: 141,359,685 (GRCm39) T381A probably benign Het
Plppr3 A G 10: 79,702,244 (GRCm39) probably null Het
Ppp2r5e A T 12: 75,516,540 (GRCm39) F216I possibly damaging Het
Ppp3ca T A 3: 136,627,672 (GRCm39) V412D probably benign Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Psph A C 5: 129,843,532 (GRCm39) I174R probably damaging Het
Ptov1 A G 7: 44,514,991 (GRCm39) Y207H possibly damaging Het
Ptprs A G 17: 56,741,510 (GRCm39) S585P probably damaging Het
Rnf146 A T 10: 29,223,720 (GRCm39) H55Q probably damaging Het
Rnf213 T A 11: 119,332,009 (GRCm39) M2407K probably damaging Het
Rnls A C 19: 33,179,931 (GRCm39) L55R possibly damaging Het
Rptor T C 11: 119,647,146 (GRCm39) C246R probably damaging Het
Rrp12 C T 19: 41,866,222 (GRCm39) probably null Het
Samd3 A G 10: 26,127,672 (GRCm39) D223G probably damaging Het
Sdad1 G A 5: 92,453,155 (GRCm39) Q68* probably null Het
Selenov G A 7: 27,989,847 (GRCm39) T219M probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Slc26a10 A T 10: 127,014,279 (GRCm39) V245E probably damaging Het
Slit1 A G 19: 41,614,012 (GRCm39) L820P probably damaging Het
Snap23 T C 2: 120,421,163 (GRCm39) F96L probably benign Het
Speer1k T C 5: 10,998,994 (GRCm39) probably benign Het
Spef1l A T 7: 139,556,005 (GRCm39) I212N probably benign Het
Stkld1 A G 2: 26,840,115 (GRCm39) H395R probably damaging Het
Syt13 G A 2: 92,771,165 (GRCm39) G84D probably damaging Het
Terb2 T A 2: 122,016,990 (GRCm39) L37Q probably damaging Het
Themis A G 10: 28,657,753 (GRCm39) Y107C probably damaging Het
Top2a T A 11: 98,906,895 (GRCm39) T249S probably benign Het
Tspo2 A T 17: 48,756,148 (GRCm39) F71Y probably damaging Het
Ttc21b T A 2: 66,053,921 (GRCm39) K753* probably null Het
Ttk A G 9: 83,736,915 (GRCm39) Y458C possibly damaging Het
Ttn T C 2: 76,586,017 (GRCm39) R21905G probably damaging Het
Ugt3a1 T A 15: 9,351,254 (GRCm39) F88I probably benign Het
Vmn1r119 A G 7: 20,746,121 (GRCm39) L87P probably damaging Het
Vmn1r36 A G 6: 66,693,747 (GRCm39) F6L probably benign Het
Vmn2r15 T A 5: 109,434,860 (GRCm39) K615* probably null Het
Wdr18 G A 10: 79,802,561 (GRCm39) probably null Het
Wdr6 A T 9: 108,453,176 (GRCm39) W236R probably damaging Het
Zbtb48 T C 4: 152,110,955 (GRCm39) T187A probably benign Het
Other mutations in Cabin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Cabin1 APN 10 75,561,420 (GRCm39) missense possibly damaging 0.58
IGL01457:Cabin1 APN 10 75,578,263 (GRCm39) missense probably damaging 0.96
IGL02217:Cabin1 APN 10 75,535,881 (GRCm39) missense possibly damaging 0.95
IGL02649:Cabin1 APN 10 75,573,252 (GRCm39) missense probably damaging 1.00
IGL02737:Cabin1 APN 10 75,549,419 (GRCm39) missense probably benign 0.09
IGL02792:Cabin1 APN 10 75,582,573 (GRCm39) missense probably damaging 1.00
IGL03047:Cabin1 APN 10 75,535,934 (GRCm39) splice site probably benign
IGL03106:Cabin1 APN 10 75,569,462 (GRCm39) missense probably benign 0.01
IGL03276:Cabin1 APN 10 75,568,247 (GRCm39) missense probably damaging 1.00
bison UTSW 10 75,520,157 (GRCm39) missense probably damaging 1.00
range UTSW 10 75,494,481 (GRCm39) missense probably damaging 1.00
R0335:Cabin1 UTSW 10 75,492,883 (GRCm39) missense probably damaging 1.00
R0557:Cabin1 UTSW 10 75,562,751 (GRCm39) missense probably damaging 1.00
R0578:Cabin1 UTSW 10 75,549,444 (GRCm39) missense probably damaging 0.96
R0588:Cabin1 UTSW 10 75,581,171 (GRCm39) missense possibly damaging 0.71
R1115:Cabin1 UTSW 10 75,553,511 (GRCm39) missense possibly damaging 0.70
R1120:Cabin1 UTSW 10 75,561,550 (GRCm39) missense probably damaging 1.00
R1439:Cabin1 UTSW 10 75,492,640 (GRCm39) missense probably damaging 1.00
R1471:Cabin1 UTSW 10 75,530,626 (GRCm39) missense probably damaging 1.00
R1794:Cabin1 UTSW 10 75,561,579 (GRCm39) missense possibly damaging 0.52
R1959:Cabin1 UTSW 10 75,570,924 (GRCm39) missense possibly damaging 0.92
R2008:Cabin1 UTSW 10 75,570,810 (GRCm39) splice site probably null
R2279:Cabin1 UTSW 10 75,589,295 (GRCm39) missense probably benign
R3150:Cabin1 UTSW 10 75,492,745 (GRCm39) missense probably damaging 1.00
R3929:Cabin1 UTSW 10 75,587,452 (GRCm39) critical splice acceptor site probably null
R3945:Cabin1 UTSW 10 75,581,093 (GRCm39) missense probably damaging 1.00
R3946:Cabin1 UTSW 10 75,581,093 (GRCm39) missense probably damaging 1.00
R4206:Cabin1 UTSW 10 75,590,675 (GRCm39) missense possibly damaging 0.69
R4812:Cabin1 UTSW 10 75,482,428 (GRCm39) missense possibly damaging 0.93
R4944:Cabin1 UTSW 10 75,575,255 (GRCm39) missense probably damaging 0.99
R4944:Cabin1 UTSW 10 75,557,197 (GRCm39) missense probably damaging 1.00
R5078:Cabin1 UTSW 10 75,557,312 (GRCm39) missense probably damaging 1.00
R5082:Cabin1 UTSW 10 75,574,164 (GRCm39) missense probably damaging 0.99
R5319:Cabin1 UTSW 10 75,561,549 (GRCm39) missense probably damaging 1.00
R5481:Cabin1 UTSW 10 75,570,900 (GRCm39) missense probably benign 0.29
R5504:Cabin1 UTSW 10 75,488,843 (GRCm39) missense probably benign 0.00
R5710:Cabin1 UTSW 10 75,482,852 (GRCm39) missense probably benign 0.00
R5908:Cabin1 UTSW 10 75,557,366 (GRCm39) missense probably damaging 1.00
R5975:Cabin1 UTSW 10 75,493,673 (GRCm39) missense probably damaging 1.00
R5982:Cabin1 UTSW 10 75,561,394 (GRCm39) missense probably benign 0.00
R6038:Cabin1 UTSW 10 75,575,200 (GRCm39) missense probably benign 0.02
R6038:Cabin1 UTSW 10 75,575,200 (GRCm39) missense probably benign 0.02
R6114:Cabin1 UTSW 10 75,583,805 (GRCm39) missense probably benign 0.00
R6285:Cabin1 UTSW 10 75,520,157 (GRCm39) missense probably damaging 1.00
R6341:Cabin1 UTSW 10 75,494,573 (GRCm39) missense probably damaging 0.98
R6361:Cabin1 UTSW 10 75,562,699 (GRCm39) missense possibly damaging 0.91
R6395:Cabin1 UTSW 10 75,582,576 (GRCm39) missense probably benign 0.10
R6422:Cabin1 UTSW 10 75,492,626 (GRCm39) missense probably damaging 1.00
R6575:Cabin1 UTSW 10 75,561,535 (GRCm39) missense possibly damaging 0.90
R6763:Cabin1 UTSW 10 75,582,564 (GRCm39) missense probably damaging 0.99
R6845:Cabin1 UTSW 10 75,557,342 (GRCm39) missense probably damaging 1.00
R6936:Cabin1 UTSW 10 75,551,592 (GRCm39) splice site probably null
R7050:Cabin1 UTSW 10 75,549,376 (GRCm39) missense probably damaging 1.00
R7055:Cabin1 UTSW 10 75,579,117 (GRCm39) missense probably benign 0.04
R7101:Cabin1 UTSW 10 75,587,401 (GRCm39) missense probably benign
R7138:Cabin1 UTSW 10 75,581,187 (GRCm39) missense probably damaging 0.98
R7173:Cabin1 UTSW 10 75,582,396 (GRCm39) missense probably benign 0.00
R7265:Cabin1 UTSW 10 75,557,257 (GRCm39) missense
R7284:Cabin1 UTSW 10 75,530,668 (GRCm39) missense
R7472:Cabin1 UTSW 10 75,494,481 (GRCm39) missense probably damaging 1.00
R7571:Cabin1 UTSW 10 75,482,500 (GRCm39) missense probably damaging 1.00
R7617:Cabin1 UTSW 10 75,568,277 (GRCm39) missense possibly damaging 0.85
R7739:Cabin1 UTSW 10 75,494,492 (GRCm39) missense probably damaging 1.00
R7997:Cabin1 UTSW 10 75,569,609 (GRCm39) missense probably benign 0.01
R8347:Cabin1 UTSW 10 75,578,201 (GRCm39) missense probably damaging 0.98
R8544:Cabin1 UTSW 10 75,585,890 (GRCm39) missense probably benign 0.17
R8546:Cabin1 UTSW 10 75,578,101 (GRCm39) missense probably damaging 1.00
R8692:Cabin1 UTSW 10 75,587,410 (GRCm39) missense probably benign 0.28
R8839:Cabin1 UTSW 10 75,492,650 (GRCm39) missense probably benign 0.00
R9010:Cabin1 UTSW 10 75,570,892 (GRCm39) nonsense probably null
R9108:Cabin1 UTSW 10 75,492,973 (GRCm39) missense possibly damaging 0.94
R9204:Cabin1 UTSW 10 75,530,550 (GRCm39) missense probably benign 0.01
R9259:Cabin1 UTSW 10 75,582,576 (GRCm39) missense probably benign
R9312:Cabin1 UTSW 10 75,561,569 (GRCm39) missense probably benign 0.07
R9421:Cabin1 UTSW 10 75,493,658 (GRCm39) missense probably damaging 1.00
R9439:Cabin1 UTSW 10 75,581,069 (GRCm39) missense probably damaging 1.00
R9578:Cabin1 UTSW 10 75,590,185 (GRCm39) missense probably damaging 0.99
R9645:Cabin1 UTSW 10 75,494,543 (GRCm39) missense probably benign 0.36
R9649:Cabin1 UTSW 10 75,575,239 (GRCm39) missense probably damaging 0.98
R9711:Cabin1 UTSW 10 75,579,090 (GRCm39) missense probably benign 0.02
Z1177:Cabin1 UTSW 10 75,483,957 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2014-06-23