Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02217:Cabin1'

284928

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabin1

Ensembl Gene

ENSMUSG00000020196

Gene Name

calcineurin binding protein 1

Synonyms

A330070M20Rik, Ppp3in, Cain

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

75481946-75600175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75535881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1389 (T1389I)

Ref Sequence

ENSEMBL: ENSMUSP00000001712 (fasta)

Gene Model

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

AlphaFold

G3X8Q1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001712
AA Change: T1389I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: T1389I

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

noncoding transcript
Transcript: ENSMUST00000218486

Predicted Effect

unknown
Transcript: ENSMUST00000219806
AA Change: T62I

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,603,955 (GRCm39)		probably benign	Het
Actn1	G	A	12: 80,220,868 (GRCm39)	Q647*	probably null	Het
Adamts6	T	A	13: 104,598,873 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cenpc1	A	G	5: 86,177,059 (GRCm39)		probably benign	Het
Clca4a	T	A	3: 144,667,757 (GRCm39)	T405S	possibly damaging	Het
Cntln	G	A	4: 85,018,495 (GRCm39)	V1168M	probably damaging	Het
Col18a1	A	G	10: 76,889,132 (GRCm39)	S1494P	probably damaging	Het
Cps1	A	T	1: 67,213,541 (GRCm39)	T758S	probably benign	Het
Cul3	A	T	1: 80,261,484 (GRCm39)	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,305,953 (GRCm39)		probably null	Het
Dennd4c	T	A	4: 86,732,036 (GRCm39)	C917S	probably benign	Het
Dhrs11	A	T	11: 84,713,221 (GRCm39)	Y166*	probably null	Het
Dtl	A	G	1: 191,300,426 (GRCm39)	V146A	probably damaging	Het
Exosc9	A	G	3: 36,606,893 (GRCm39)	E20G	probably damaging	Het
Fer	A	G	17: 64,445,960 (GRCm39)	K437R	probably benign	Het
Fkbp6	A	T	5: 135,366,484 (GRCm39)	V284E	probably benign	Het
Foxq1	A	T	13: 31,743,152 (GRCm39)	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832 (GRCm39)	S83R	probably damaging	Het
Gpr156	A	G	16: 37,825,673 (GRCm39)	D630G	probably benign	Het
Hace1	A	T	10: 45,466,471 (GRCm39)		probably null	Het
Hemgn	G	T	4: 46,396,420 (GRCm39)	T272K	probably damaging	Het
Ifi213	T	G	1: 173,422,598 (GRCm39)	E89A	possibly damaging	Het
Jarid2	A	G	13: 45,066,677 (GRCm39)	E954G	probably damaging	Het
Kcnu1	A	G	8: 26,348,212 (GRCm39)	D126G	probably damaging	Het
Lbh	A	T	17: 73,228,247 (GRCm39)	I31F	possibly damaging	Het
Lrrc37	T	C	11: 103,503,697 (GRCm39)		probably benign	Het
Mdfic2	T	A	6: 98,225,033 (GRCm39)	E83D	possibly damaging	Het
Muc6	T	C	7: 141,235,889 (GRCm39)	E490G	probably damaging	Het
Ncoa3	T	C	2: 165,897,266 (GRCm39)	S686P	probably damaging	Het
Nme4	A	G	17: 26,312,834 (GRCm39)	M108T	probably damaging	Het
Nod1	A	C	6: 54,920,404 (GRCm39)	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,383,502 (GRCm39)	N70S	probably damaging	Het
Or2bd2	T	A	7: 6,443,244 (GRCm39)	I115N	probably damaging	Het
Or5as1	A	G	2: 86,980,231 (GRCm39)	M258T	probably benign	Het
Pitrm1	G	A	13: 6,617,377 (GRCm39)		probably benign	Het
Proser1	A	G	3: 53,378,912 (GRCm39)	K115E	probably damaging	Het
Ptov1	C	T	7: 44,516,900 (GRCm39)	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,328,685 (GRCm39)		probably null	Het
Rbbp8nl	A	G	2: 179,919,981 (GRCm39)		probably benign	Het
Rplp1rt	A	T	19: 12,824,227 (GRCm39)		noncoding transcript	Het
Rtn3	G	A	19: 7,412,449 (GRCm39)	T794I	probably damaging	Het
Setd4	A	G	16: 93,390,183 (GRCm39)	L82P	probably damaging	Het
Shank2	C	T	7: 143,838,784 (GRCm39)	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,750,568 (GRCm39)	V45G	probably damaging	Het
Utrn	A	G	10: 12,627,303 (GRCm39)	F57S	probably damaging	Het
Vcan	T	G	13: 89,851,196 (GRCm39)	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,487,676 (GRCm39)	H183P	probably damaging	Het
Wdr48	T	C	9: 119,738,601 (GRCm39)	I286T	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
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
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

Posted On

2015-04-16