Mutagenetix > Incidental Mutation

Incidental Mutation 'R1120:Cabin1'

95518

Institutional Source

Beutler Lab

Gene Symbol

Cabin1

Ensembl Gene

ENSMUSG00000020196

Gene Name

calcineurin binding protein 1

Synonyms

A330070M20Rik, Ppp3in, Cain

MMRRC Submission

039193-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75481946-75600175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75561550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 984 (Y984H)

Ref Sequence

ENSEMBL: ENSMUSP00000001712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001712] [ENSMUST00000218790] [ENSMUST00000218878]

AlphaFold

G3X8Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001712
AA Change: Y984H

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

SMART Domains

Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: Y984H

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

unknown
Transcript: ENSMUST00000217810
AA Change: Y157H

Predicted Effect

probably benign
Transcript: ENSMUST00000218790

Predicted Effect

probably benign
Transcript: ENSMUST00000218878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220009

Meta Mutation Damage Score

0.6330

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	G	5: 24,613,818 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,053,159 (GRCm39)	Q77L	probably damaging	Het
Blm	A	G	7: 80,131,214 (GRCm39)	L878S	probably damaging	Het
Cadps2	T	C	6: 23,838,793 (GRCm39)	Q86R	probably damaging	Het
Cd2	C	T	3: 101,194,804 (GRCm39)	D95N	probably damaging	Het
Cd36	A	G	5: 17,990,826 (GRCm39)	I438T	possibly damaging	Het
Crhbp	G	T	13: 95,578,593 (GRCm39)	T176K	probably benign	Het
D630045J12Rik	G	T	6: 38,171,705 (GRCm39)	T821K	probably damaging	Het
Disp1	T	C	1: 182,880,139 (GRCm39)	D288G	probably benign	Het
Dsc3	A	G	18: 20,120,034 (GRCm39)	V208A	probably benign	Het
Eef1e1	A	T	13: 38,842,910 (GRCm39)	N20K	probably damaging	Het
Ercc5	A	G	1: 44,201,001 (GRCm39)	D187G	probably damaging	Het
Etl4	T	A	2: 20,811,514 (GRCm39)	M1199K	probably benign	Het
Fnbp1	A	T	2: 30,926,606 (GRCm39)	Y433N	probably damaging	Het
Fxyd3	A	G	7: 30,770,803 (GRCm39)		probably benign	Het
Hfm1	A	T	5: 107,052,084 (GRCm39)		probably benign	Het
Irak2	T	A	6: 113,652,720 (GRCm39)		probably benign	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Knl1	A	G	2: 118,892,856 (GRCm39)	R51G	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Lrba	A	T	3: 86,202,499 (GRCm39)	D250V	probably damaging	Het
Mgat4a	A	G	1: 37,491,662 (GRCm39)	S357P	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or4a27	A	G	2: 88,559,281 (GRCm39)	Y221H	probably damaging	Het
Or4c109	A	G	2: 88,818,423 (GRCm39)	M41T	possibly damaging	Het
Or9k2	A	G	10: 129,998,406 (GRCm39)	L263P	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pnpla8	A	G	12: 44,351,730 (GRCm39)	T568A	possibly damaging	Het
Ptprn	A	G	1: 75,234,825 (GRCm39)	I254T	probably benign	Het
Rab5b	A	C	10: 128,515,483 (GRCm39)	N188K	probably benign	Het
Samd5	A	G	10: 9,504,792 (GRCm39)	V154A	possibly damaging	Het
Smarcb1	A	G	10: 75,757,157 (GRCm39)	F25L	probably benign	Het
Smchd1	A	T	17: 71,665,141 (GRCm39)	Y1847*	probably null	Het
Smpd4	T	C	16: 17,456,350 (GRCm39)		probably benign	Het
Tex14	T	A	11: 87,429,502 (GRCm39)		probably benign	Het
Tnfrsf26	G	A	7: 143,171,651 (GRCm39)	R101C	probably damaging	Het
Trmu	A	G	15: 85,774,486 (GRCm39)	K37E	possibly damaging	Het
Tsen54	C	T	11: 115,705,839 (GRCm39)	A52V	probably damaging	Het
Ubb	T	C	11: 62,443,009 (GRCm39)	I13T	possibly damaging	Het
Vmn2r101	A	T	17: 19,797,723 (GRCm39)		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
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
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'- CACCTGTTAGGGCAGATGCAGATG -3'
(R):5'- ACCCTCCATTGCAGATGTAAGAAGC -3'

Sequencing Primer
(F):5'- TCTTGAAATGGTAGTCAGCCAG -3'
(R):5'- GCAGGATAGGGAAGATGCTTTG -3'

Posted On

2014-01-05