Mutagenetix > Incidental Mutation

Incidental Mutation 'R6763:Cabin1'

531784

Institutional Source

Beutler Lab

Gene Symbol

Cabin1

Ensembl Gene

ENSMUSG00000020196

Gene Name

calcineurin binding protein 1

Synonyms

A330070M20Rik, Ppp3in, Cain

MMRRC Submission

044879-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75481946-75600175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75582564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 284 (L284P)

Ref Sequence

ENSEMBL: ENSMUSP00000001712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001712]

AlphaFold

G3X8Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001712
AA Change: L284P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: L284P

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	A	15: 102,248,457 (GRCm39)	R286L	probably null	Het
Actrt2	A	G	4: 154,751,836 (GRCm39)	V100A	probably damaging	Het
Adra1b	A	G	11: 43,666,833 (GRCm39)	L468P	possibly damaging	Het
Ankhd1	A	G	18: 36,776,022 (GRCm39)	E1457G	probably benign	Het
Aspm	A	T	1: 139,398,255 (GRCm39)	M974L	possibly damaging	Het
Atp8a2	T	A	14: 60,245,857 (GRCm39)	I612F	probably benign	Het
Cand2	T	A	6: 115,776,930 (GRCm39)	M1106K	probably benign	Het
Ccbe1	A	T	18: 66,194,459 (GRCm39)	F376I	possibly damaging	Het
Ceacam14	A	G	7: 17,549,268 (GRCm39)	T220A	probably benign	Het
Celsr3	A	G	9: 108,704,549 (GRCm39)	D344G	probably damaging	Het
Chaf1b	A	G	16: 93,688,393 (GRCm39)	K163E	probably damaging	Het
Clec2d	C	A	6: 129,161,107 (GRCm39)	T68K	probably benign	Het
Cwc27	T	C	13: 104,947,809 (GRCm39)	T19A	probably damaging	Het
Dnah7c	A	T	1: 46,668,050 (GRCm39)	Y1519F	possibly damaging	Het
E130308A19Rik	A	T	4: 59,752,288 (GRCm39)	K467M	probably damaging	Het
Garnl3	T	C	2: 32,944,208 (GRCm39)	Y117C	probably damaging	Het
Gas2l3	T	C	10: 89,249,231 (GRCm39)	Y629C	probably benign	Het
Lama1	A	G	17: 68,053,868 (GRCm39)	N470D	unknown	Het
Lmtk2	T	A	5: 144,110,615 (GRCm39)	I445N	probably damaging	Het
Lrba	A	G	3: 86,261,570 (GRCm39)	D1508G	probably damaging	Het
Muc5b	A	G	7: 141,416,021 (GRCm39)	H2989R	probably benign	Het
Niban2	T	C	2: 32,801,460 (GRCm39)		probably null	Het
Nln	A	T	13: 104,172,163 (GRCm39)	W638R	probably damaging	Het
Nup133	T	C	8: 124,671,017 (GRCm39)	I127V	possibly damaging	Het
Nup155	C	T	15: 8,165,379 (GRCm39)	R672*	probably null	Het
Prkcb	A	G	7: 122,193,887 (GRCm39)	Y532C	probably damaging	Het
Ptpro	A	G	6: 137,395,279 (GRCm39)		probably null	Het
Rab11fip5	A	G	6: 85,319,152 (GRCm39)	L579S	probably benign	Het
Rtca	A	G	3: 116,301,398 (GRCm39)		probably null	Het
Sdccag8	A	G	1: 176,682,193 (GRCm39)		probably null	Het
Svil	G	T	18: 5,056,437 (GRCm39)	D524Y	probably damaging	Het
Unc80	A	G	1: 66,560,636 (GRCm39)	N788S	probably benign	Het
Wdfy4	G	T	14: 32,764,469 (GRCm39)	R2140S	probably damaging	Het
Zfp518a	A	G	19: 40,902,192 (GRCm39)	K707R	probably damaging	Het

Other mutations in Cabin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACTGTGCAGTGGGAAGCTAG -3'
(R):5'- GGAAGATATTCGTTCTCTGCACC -3'

Sequencing Primer
(F):5'- CTGCGGTCACAGAGGTGTAG -3'
(R):5'- TGCACCTGCTCTGGCTTGG -3'

Posted On

2018-08-29