Incidental Mutation 'R1471:Cabin1'
ID 164905
Institutional Source Beutler Lab
Gene Symbol Cabin1
Ensembl Gene ENSMUSG00000020196
Gene Name calcineurin binding protein 1
Synonyms A330070M20Rik, Ppp3in, Cain
MMRRC Submission 039524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1471 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75481946-75600175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75530626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1519 (C1519R)
Ref Sequence ENSEMBL: ENSMUSP00000001712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001712]
AlphaFold G3X8Q1
Predicted Effect probably damaging
Transcript: ENSMUST00000001712
AA Change: C1519R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: C1519R

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 noncoding transcript
Transcript: ENSMUST00000218486
Predicted Effect probably benign
Transcript: ENSMUST00000219806
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.4%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C A 13: 61,001,336 (GRCm39) K130N probably damaging Het
Adam6a T A 12: 113,508,013 (GRCm39) S129T probably damaging Het
Adamts10 T A 17: 33,772,112 (GRCm39) F1087I probably damaging Het
Afp T A 5: 90,651,541 (GRCm39) N385K possibly damaging Het
Ahnak T G 19: 8,990,296 (GRCm39) probably benign Het
Akap6 A G 12: 53,188,279 (GRCm39) T1898A probably benign Het
Antxr2 C A 5: 98,123,199 (GRCm39) V283F possibly damaging Het
Asgr1 T C 11: 69,946,919 (GRCm39) V55A possibly damaging Het
Asxl3 A G 18: 22,649,411 (GRCm39) K467E probably damaging Het
Atp5f1a C A 18: 77,868,969 (GRCm39) Q398K probably damaging Het
Atxn2 T A 5: 121,924,437 (GRCm39) D455E probably damaging Het
B4galt6 C T 18: 20,878,410 (GRCm39) A39T possibly damaging Het
C130073F10Rik C T 4: 101,747,535 (GRCm39) E165K probably benign Het
Casp8ap2 C T 4: 32,639,386 (GRCm39) R147* probably null Het
Ccdc88b A G 19: 6,831,391 (GRCm39) L517P probably benign Het
Cd109 G A 9: 78,561,869 (GRCm39) V220I probably damaging Het
Cd2ap T C 17: 43,131,488 (GRCm39) K369R probably benign Het
Cd300c A G 11: 114,850,614 (GRCm39) V63A probably benign Het
Cnot10 A G 9: 114,420,619 (GRCm39) V741A probably benign Het
Col18a1 G T 10: 76,932,040 (GRCm39) Q350K unknown Het
Crnkl1 T C 2: 145,774,236 (GRCm39) K76E possibly damaging Het
Cryzl2 A G 1: 157,298,291 (GRCm39) K227E probably benign Het
Cts6 G A 13: 61,344,194 (GRCm39) T286I probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Dcaf7 T A 11: 105,937,573 (GRCm39) F65L probably benign Het
Dgke A C 11: 88,946,320 (GRCm39) V160G possibly damaging Het
Dock8 C A 19: 25,178,400 (GRCm39) Q2098K possibly damaging Het
Efhb T A 17: 53,706,140 (GRCm39) D799V possibly damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Exosc1 A T 19: 41,913,157 (GRCm39) S117R probably damaging Het
Fga T C 3: 82,935,925 (GRCm39) S51P probably benign Het
Fmn1 T C 2: 113,523,439 (GRCm39) F1141L possibly damaging Het
Foxm1 C T 6: 128,350,837 (GRCm39) L713F probably damaging Het
Galnt4 A G 10: 98,944,536 (GRCm39) E87G probably benign Het
Gamt T C 10: 80,096,692 (GRCm39) D15G probably benign Het
Gm15557 C A 2: 155,784,174 (GRCm39) D154E possibly damaging Het
Gnptab A G 10: 88,281,625 (GRCm39) I1211V probably benign Het
Greb1 A T 12: 16,761,775 (GRCm39) M535K probably damaging Het
Grm8 C A 6: 27,363,308 (GRCm39) A736S possibly damaging Het
Hspa14 T C 2: 3,492,645 (GRCm39) I373M probably benign Het
Ifi207 T A 1: 173,557,629 (GRCm39) T370S unknown Het
Igf1r A G 7: 67,653,585 (GRCm39) N41S probably damaging Het
Ikzf5 A T 7: 130,993,496 (GRCm39) V224D probably damaging Het
Il10 C A 1: 130,949,110 (GRCm39) Y90* probably null Het
Itga4 A G 2: 79,117,376 (GRCm39) D394G probably benign Het
Kif21a A T 15: 90,840,622 (GRCm39) S1165T probably benign Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Loxl2 A G 14: 69,930,546 (GRCm39) N770S probably benign Het
Man2b1 A G 8: 85,813,474 (GRCm39) D222G probably damaging Het
Mcub T A 3: 129,709,464 (GRCm39) Y283F probably damaging Het
Meis3 T A 7: 15,911,496 (GRCm39) Y64* probably null Het
Mfsd6 T A 1: 52,748,716 (GRCm39) I50F probably benign Het
Micu2 T C 14: 58,182,854 (GRCm39) T165A probably damaging Het
Mtcl1 T C 17: 66,686,143 (GRCm39) E921G probably damaging Het
Muc5b A T 7: 141,396,971 (GRCm39) N215Y unknown Het
Muc6 A G 7: 141,234,176 (GRCm39) F772L possibly damaging Het
Myt1 A G 2: 181,438,904 (GRCm39) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm39) V479I probably benign Het
Nsun7 A G 5: 66,441,572 (GRCm39) K414E probably benign Het
Nup210l A C 3: 90,077,869 (GRCm39) I914L probably benign Het
Obox3 G A 7: 15,360,875 (GRCm39) P88L probably benign Het
Or10ag57 A G 2: 87,218,862 (GRCm39) Y271C probably damaging Het
Or4f4b T C 2: 111,314,351 (GRCm39) L192P probably damaging Het
Or8h8 C T 2: 86,752,922 (GRCm39) probably null Het
Or8w1 T C 2: 87,466,014 (GRCm39) T26A probably benign Het
Pclo T C 5: 14,730,441 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,545,688 (GRCm39) N745D probably damaging Het
Pdzrn3 T A 6: 101,128,473 (GRCm39) N731I possibly damaging Het
Pkdrej T A 15: 85,701,334 (GRCm39) Q1534L probably benign Het
Pramel28 T C 4: 143,691,523 (GRCm39) N400S probably benign Het
Rell1 T A 5: 64,093,428 (GRCm39) D109V probably damaging Het
Rplp0 C T 5: 115,701,403 (GRCm39) T285I probably damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Sema3g C T 14: 30,950,002 (GRCm39) R728C probably damaging Het
Slc15a2 A G 16: 36,574,153 (GRCm39) Y536H probably damaging Het
Slc26a5 T A 5: 22,021,962 (GRCm39) Y488F probably benign Het
Slc5a4a A T 10: 76,022,362 (GRCm39) S566C probably damaging Het
Spink7 C T 18: 62,729,275 (GRCm39) E21K possibly damaging Het
Src C T 2: 157,299,107 (GRCm39) Q35* probably null Het
Srrm2 T A 17: 24,039,770 (GRCm39) V2234E probably damaging Het
Stk36 A T 1: 74,650,314 (GRCm39) Q282L probably benign Het
Tas2r118 T G 6: 23,969,170 (GRCm39) E297A probably damaging Het
Terf1 A G 1: 15,913,194 (GRCm39) Y385C probably damaging Het
Tmc3 T C 7: 83,247,498 (GRCm39) S198P probably damaging Het
Tmprss11b C T 5: 86,808,355 (GRCm39) R407H possibly damaging Het
Tspyl4 G A 10: 34,174,107 (GRCm39) E200K probably damaging Het
Ttc21a T C 9: 119,771,707 (GRCm39) Y169H probably damaging Het
Ugt2b36 C T 5: 87,239,930 (GRCm39) D152N probably damaging Het
Unk T C 11: 115,940,235 (GRCm39) I196T probably benign Het
Uroc1 T G 6: 90,321,153 (GRCm39) V243G probably damaging Het
Usp34 C A 11: 23,438,862 (GRCm39) Q3475K probably benign Het
Vmn2r117 T A 17: 23,697,447 (GRCm39) I82L probably benign Het
Vmn2r44 A T 7: 8,380,882 (GRCm39) V337E probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp362 T C 4: 128,680,993 (GRCm39) T111A probably benign Het
Zfp598 T C 17: 24,899,046 (GRCm39) V615A 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
R1794:Cabin1 UTSW 10 75,561,579 (GRCm39) missense possibly damaging 0.52
R1844:Cabin1 UTSW 10 75,579,184 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- GGAACACTGGACCACACTTTGGAC -3'
(R):5'- CCTTCCGGGTTGTAGAACAAAGCG -3'

Sequencing Primer
(F):5'- ACACTTTGGACTGCCTCTGG -3'
(R):5'- AAGCGTCCAGAAGCCTGTG -3'
Posted On 2014-03-28