Mutagenetix > Incidental Mutation

Incidental Mutation 'R7050:Cabin1'

547537

Institutional Source

Beutler Lab

Gene Symbol

Cabin1

Ensembl Gene

ENSMUSG00000020196

Gene Name

calcineurin binding protein 1

Synonyms

A330070M20Rik, Ppp3in, Cain

MMRRC Submission

045241-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75481946-75600175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75549376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1343 (P1343Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001712 (fasta)

Gene Model

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

AlphaFold

G3X8Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001712
AA Change: P1343Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: P1343Q

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

probably benign
Transcript: ENSMUST00000217810

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,864,544 (GRCm39)	A346V	possibly damaging	Het
Adcy5	A	T	16: 35,124,070 (GRCm39)	M1250L	possibly damaging	Het
Arhgef38	T	C	3: 132,839,388 (GRCm39)		probably benign	Het
Ascc3	T	A	10: 50,716,446 (GRCm39)	I1944N	probably benign	Het
Cbr3	A	T	16: 93,487,282 (GRCm39)	Q155L	possibly damaging	Het
Cd44	A	G	2: 102,644,482 (GRCm39)	V577A	probably damaging	Het
Coil	C	T	11: 88,872,014 (GRCm39)	T125I	possibly damaging	Het
Fmo3	T	C	1: 162,791,473 (GRCm39)	N268S	probably damaging	Het
Fnip2	T	C	3: 79,413,577 (GRCm39)	T248A	probably damaging	Het
Ggt7	G	A	2: 155,348,295 (GRCm39)	T43I	probably benign	Het
Gm3250	C	A	10: 77,617,814 (GRCm39)	C188F	possibly damaging	Het
Iqce	G	A	5: 140,651,846 (GRCm39)	S375F	possibly damaging	Het
Iqgap3	A	G	3: 88,006,220 (GRCm39)	T544A	probably damaging	Het
Islr	A	G	9: 58,065,000 (GRCm39)	L169P	probably damaging	Het
Kdr	G	T	5: 76,110,780 (GRCm39)	T904N	probably damaging	Het
Mink1	A	G	11: 70,503,158 (GRCm39)	T974A	possibly damaging	Het
Mms19	A	G	19: 41,939,185 (GRCm39)		probably null	Het
Mycl	T	C	4: 122,890,813 (GRCm39)		probably null	Het
Nab1	A	T	1: 52,529,894 (GRCm39)	M1K	probably null	Het
Naip6	C	T	13: 100,452,007 (GRCm39)	G202R	probably damaging	Het
Nbeal2	G	A	9: 110,457,788 (GRCm39)	S2159L	probably damaging	Het
Neb	A	T	2: 52,112,888 (GRCm39)	M4302K	possibly damaging	Het
Npy1r	A	G	8: 67,157,192 (GRCm39)	D204G	probably benign	Het
Or2q1	T	A	6: 42,794,504 (GRCm39)	V33D	possibly damaging	Het
Pkdcc	T	A	17: 83,523,073 (GRCm39)	I60N	possibly damaging	Het
Plcxd3	T	C	15: 4,546,200 (GRCm39)	V68A	probably damaging	Het
Prss36	G	T	7: 127,543,937 (GRCm39)	R145S	possibly damaging	Het
Pygl	C	A	12: 70,266,396 (GRCm39)	G40C	probably damaging	Het
Rev1	A	G	1: 38,093,352 (GRCm39)	L1064P	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3k	T	C	12: 104,307,403 (GRCm39)	F212L	possibly damaging	Het
Slc16a4	A	T	3: 107,208,148 (GRCm39)	E219D	probably benign	Het
Slc6a20b	A	T	9: 123,427,608 (GRCm39)	W434R	probably damaging	Het
Slco1c1	T	A	6: 141,493,652 (GRCm39)	F278Y	probably damaging	Het
Tbx21	T	G	11: 97,005,596 (GRCm39)	D123A	probably benign	Het
Trp73	A	G	4: 154,165,899 (GRCm39)	F35L	probably damaging	Het
Tspan17	T	C	13: 54,943,876 (GRCm39)	V135A	probably benign	Het
Uba2	G	A	7: 33,845,687 (GRCm39)	Q479*	probably null	Het
Ubr2	A	G	17: 47,272,528 (GRCm39)	V889A	probably benign	Het
Unc80	A	G	1: 66,590,067 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,869,891 (GRCm39)		probably null	Het
Vmn1r45	A	T	6: 89,910,703 (GRCm39)	I89N	probably damaging	Het
Vmn2r11	A	G	5: 109,202,657 (GRCm39)	I140T	probably benign	Het
Yipf2	A	T	9: 21,503,474 (GRCm39)	D24E	probably benign	Het
Zfp251	T	G	15: 76,738,496 (GRCm39)	Q199P	possibly damaging	Het
Zfp37	A	T	4: 62,109,908 (GRCm39)	N385K	possibly damaging	Het
Zfp655	G	A	5: 145,181,545 (GRCm39)	E468K	probably benign	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
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'- ATGAGCAGCCGCAACATTG -3'
(R):5'- CTCAAGGTATGTGGAGCAGC -3'

Sequencing Primer
(F):5'- AACATTGCCCGTGTCACC -3'
(R):5'- TATGTGGAGCAGCAGCCC -3'

Posted On

2019-05-13