Incidental Mutation 'R7055:Cabin1'
ID 547862
Institutional Source Beutler Lab
Gene Symbol Cabin1
Ensembl Gene ENSMUSG00000020196
Gene Name calcineurin binding protein 1
Synonyms A330070M20Rik, Ppp3in, Cain
MMRRC Submission 045152-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7055 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 75481946-75600175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 75579117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 440 (Q440E)
Ref Sequence ENSEMBL: ENSMUSP00000001712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001712]
AlphaFold G3X8Q1
Predicted Effect probably benign
Transcript: ENSMUST00000001712
AA Change: Q440E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: Q440E

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,062,083 (GRCm39) S178P probably damaging Het
2610008E11Rik C T 10: 78,903,681 (GRCm39) E212K probably damaging Het
Abcc4 A T 14: 118,832,197 (GRCm39) L736* probably null Het
Acmsd A T 1: 127,681,570 (GRCm39) M178L probably benign Het
Adpgk T A 9: 59,220,476 (GRCm39) M266K possibly damaging Het
Aldh1b1 G A 4: 45,802,909 (GRCm39) R149H possibly damaging Het
Aox1 A G 1: 58,338,927 (GRCm39) T307A probably benign Het
C1galt1 T C 6: 7,866,585 (GRCm39) Y144H probably damaging Het
Casq2 A G 3: 102,049,561 (GRCm39) S231G probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cdan1 A G 2: 120,558,342 (GRCm39) I490T probably damaging Het
Cep170b T A 12: 112,702,149 (GRCm39) V314E probably damaging Het
Col4a4 T C 1: 82,496,757 (GRCm39) E413G unknown Het
Cyp3a25 A C 5: 145,929,801 (GRCm39) F189L probably benign Het
Dido1 T A 2: 180,303,002 (GRCm39) H1634L probably benign Het
Dnaja2 A C 8: 86,275,303 (GRCm39) V156G probably benign Het
Dpy19l4 T C 4: 11,290,291 (GRCm39) probably null Het
Eomes A T 9: 118,309,567 (GRCm39) N240I possibly damaging Het
Fads6 A G 11: 115,176,229 (GRCm39) F199L probably benign Het
Fbrs T C 7: 127,086,956 (GRCm39) probably null Het
Fndc4 T C 5: 31,451,522 (GRCm39) E153G probably benign Het
Fv1 TTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTC 4: 147,954,775 (GRCm39) probably null Het
Fzr1 T C 10: 81,206,057 (GRCm39) Y210C probably damaging Het
Gjc2 T A 11: 59,067,856 (GRCm39) M209L unknown Het
Gpr33 A G 12: 52,071,036 (GRCm39) M1T probably null Het
Gtf2a1 A T 12: 91,553,523 (GRCm39) I28N possibly damaging Het
Igf2r A C 17: 12,923,210 (GRCm39) Y1200D probably damaging Het
Ivd C T 2: 118,703,730 (GRCm39) T212I probably damaging Het
Jag1 A G 2: 136,957,409 (GRCm39) V101A probably benign Het
Kansl3 A T 1: 36,404,701 (GRCm39) V83D possibly damaging Het
Krt81 T A 15: 101,359,006 (GRCm39) I249F probably benign Het
Krtap21-1 G A 16: 89,200,591 (GRCm39) S17L unknown Het
Macf1 A T 4: 123,302,989 (GRCm39) H504Q probably benign Het
Map2 A G 1: 66,455,983 (GRCm39) T1499A probably damaging Het
Map3k9 T C 12: 81,770,982 (GRCm39) T892A probably damaging Het
Mcl1 G A 3: 95,567,110 (GRCm39) V178I probably benign Het
Mrs2 T A 13: 25,188,937 (GRCm39) M126L probably benign Het
Msantd1 C A 5: 35,075,005 (GRCm39) N9K probably benign Het
Myh9 C T 15: 77,659,398 (GRCm39) R116H probably damaging Het
Nfib A T 4: 82,248,662 (GRCm39) D308E probably benign Het
Nme2 T A 11: 93,846,416 (GRCm39) I11F probably damaging Het
Nmnat3 A G 9: 98,292,286 (GRCm39) D111G probably benign Het
Or5d37 T A 2: 87,924,045 (GRCm39) L78F probably damaging Het
Papss2 T C 19: 32,641,827 (GRCm39) W501R probably damaging Het
Parn A G 16: 13,443,998 (GRCm39) I384T possibly damaging Het
Pcdhb18 A G 18: 37,623,864 (GRCm39) D398G possibly damaging Het
Pdcl2 T C 5: 76,465,771 (GRCm39) N102D probably benign Het
Pdzrn3 C A 6: 101,128,735 (GRCm39) E644* probably null Het
Pi4ka T A 16: 17,134,879 (GRCm39) probably benign Het
Polg2 A G 11: 106,668,040 (GRCm39) F216L probably damaging Het
Prkcsh A G 9: 21,924,457 (GRCm39) *522W probably null Het
Prkcz G T 4: 155,374,091 (GRCm39) D108E probably benign Het
Pros1 T C 16: 62,748,465 (GRCm39) V646A possibly damaging Het
Ptprc A G 1: 138,017,309 (GRCm39) I483T probably damaging Het
Rabep2 T C 7: 126,044,485 (GRCm39) I527T possibly damaging Het
Rad50 T C 11: 53,578,929 (GRCm39) K543R probably benign Het
Samd4b A G 7: 28,103,458 (GRCm39) I553T probably benign Het
Sbpl A T 17: 24,172,276 (GRCm39) N214K unknown Het
Scgb2b11 C T 7: 31,909,907 (GRCm39) E60K possibly damaging Het
Sgk3 G A 1: 9,956,284 (GRCm39) E331K probably damaging Het
Snx6 A T 12: 54,830,864 (GRCm39) L32Q probably damaging Het
Srgap3 T A 6: 112,723,924 (GRCm39) Q512L probably damaging Het
Srsf12 A G 4: 33,226,157 (GRCm39) D135G probably damaging Het
Steap4 A G 5: 8,026,858 (GRCm39) T274A probably damaging Het
Svep1 A T 4: 58,064,275 (GRCm39) V3236D probably benign Het
Svep1 A T 4: 58,120,642 (GRCm39) F797Y probably benign Het
Tmem116 T C 5: 121,605,987 (GRCm39) L113P probably damaging Het
Tnfrsf1b A G 4: 144,951,457 (GRCm39) V161A probably damaging Het
Tnpo1 G T 13: 98,991,987 (GRCm39) Q622K possibly damaging Het
Top1mt A G 15: 75,550,523 (GRCm39) V28A probably benign Het
Trim25 T C 11: 88,890,750 (GRCm39) S146P probably benign Het
Tuba3b A G 6: 145,566,935 (GRCm39) D392G possibly damaging Het
Utrn C T 10: 12,623,665 (GRCm39) R191Q probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy2 T A 14: 63,137,748 (GRCm39) S84T probably benign Het
Zfp873 T A 10: 81,895,832 (GRCm39) F225I probably damaging 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
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
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'- CTAGAACCACTCTGCAGAGC -3'
(R):5'- CGATCAGTCACGGAAATCTGGAG -3'

Sequencing Primer
(F):5'- CAGAAGCCAGGCAGGTC -3'
(R):5'- GGTGTGGATGCTCTCACCATC -3'
Posted On 2019-05-13