Mutagenetix > Incidental Mutation

Incidental Mutation 'R7617:Cabin1'

588964

Institutional Source

Beutler Lab

Gene Symbol

Cabin1

Ensembl Gene

ENSMUSG00000020196

Gene Name

calcineurin binding protein 1

Synonyms

A330070M20Rik, Ppp3in, Cain

MMRRC Submission

045684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7617 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75481946-75600175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75568277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 75 (R75K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001712] [ENSMUST00000218878]

AlphaFold

G3X8Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001712
AA Change: R902K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: R902K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217810
AA Change: R75K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000218878

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (41/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,102,694 (GRCm39)	Y864*	probably null	Het
Abhd2	T	C	7: 78,998,032 (GRCm39)	M188T	probably benign	Het
Adamtsl3	T	A	7: 82,206,054 (GRCm39)		probably null	Het
Ankrd36	G	T	11: 5,637,348 (GRCm39)	V1306L	probably benign	Het
Ankrd50	C	A	3: 38,538,831 (GRCm39)		probably benign	Het
Btbd2	T	C	10: 80,482,226 (GRCm39)	D258G	probably damaging	Het
Carmil3	A	G	14: 55,735,348 (GRCm39)	N507S	probably benign	Het
Cntn1	A	G	15: 92,143,970 (GRCm39)	E311G	probably damaging	Het
Csnk1a1	T	C	18: 61,718,387 (GRCm39)	M371T	unknown	Het
Dnah1	A	T	14: 31,006,739 (GRCm39)	V2192E	possibly damaging	Het
Entrep3	T	A	3: 89,092,278 (GRCm39)	I199N	probably damaging	Het
Grip2	A	C	6: 91,742,031 (GRCm39)		probably null	Het
Gxylt2	G	T	6: 100,760,146 (GRCm39)	W227L	probably damaging	Het
Ighv6-5	G	T	12: 114,380,626 (GRCm39)		probably benign	Het
Jak1	T	A	4: 101,031,408 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,328,345 (GRCm39)	D393G	possibly damaging	Het
Klf10	A	T	15: 38,297,080 (GRCm39)	V320E	probably damaging	Het
Krt87	A	T	15: 101,336,426 (GRCm39)	C76S	probably benign	Het
Myh1	A	G	11: 67,106,701 (GRCm39)	D1261G	possibly damaging	Het
Myo18b	A	C	5: 112,905,319 (GRCm39)		probably null	Het
Or4c124	T	A	2: 89,155,723 (GRCm39)	D267V	probably damaging	Het
Oxct2a	A	C	4: 123,217,150 (GRCm39)	L77R	probably damaging	Het
P2rx2	A	T	5: 110,489,950 (GRCm39)	C172S	probably damaging	Het
P3h3	A	G	6: 124,832,969 (GRCm39)	Y195H	probably damaging	Het
Pex11b	T	C	3: 96,544,107 (GRCm39)		probably null	Het
Ppm1j	T	A	3: 104,691,059 (GRCm39)	Y274*	probably null	Het
Scn9a	A	T	2: 66,370,893 (GRCm39)	D562E	possibly damaging	Het
Slc14a2	A	G	18: 78,203,156 (GRCm39)	V557A	probably benign	Het
Slc9b2	T	C	3: 135,042,221 (GRCm39)	I500T	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tcp10c	T	G	17: 13,576,100 (GRCm39)	L27V	probably damaging	Het
Tktl2	A	G	8: 66,965,651 (GRCm39)	D403G	probably benign	Het
Tmprss13	G	A	9: 45,244,858 (GRCm39)	W212*	probably null	Het
Tspoap1	T	G	11: 87,654,451 (GRCm39)	S244A	probably benign	Het
Upb1	A	C	10: 75,260,368 (GRCm39)	T136P	probably benign	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wwp1	T	C	4: 19,662,188 (GRCm39)	T136A	probably benign	Het
Zfp354a	A	G	11: 50,960,751 (GRCm39)	T320A	probably benign	Het
Zfyve16	A	G	13: 92,641,070 (GRCm39)	Y1225H	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
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
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'- TGCAGGAACCAAGTTCAGAC -3'
(R):5'- AGCCAGCTAGGTAATTACTTAGAAG -3'

Sequencing Primer
(F):5'- GGAACCAAGTTCAGACTTTCAG -3'
(R):5'- GACAGAGGAAAGAGAAAATTCTGTG -3'

Posted On

2019-10-24