Incidental Mutation 'R4944:Cabin1'
| ID |
383359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cabin1
|
| Ensembl Gene |
ENSMUSG00000020196 |
| Gene Name |
calcineurin binding protein 1 |
| Synonyms |
A330070M20Rik, Ppp3in, Cain |
| MMRRC Submission |
042541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75481946-75600175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75557197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1147
(G1147D)
|
| 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: G1147D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: G1147D
| 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: G320D
|
| 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 |
0.9394 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
A |
5: 8,984,327 (GRCm39) |
|
probably null |
Het |
| Angptl7 |
C |
G |
4: 148,584,534 (GRCm39) |
Q71H |
probably damaging |
Het |
| Arhgap30 |
A |
T |
1: 171,229,822 (GRCm39) |
N176Y |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,202,256 (GRCm39) |
S805T |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,720,407 (GRCm39) |
H496P |
probably damaging |
Het |
| Catsperd |
T |
C |
17: 56,969,744 (GRCm39) |
S613P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,126,549 (GRCm39) |
P47Q |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,261,164 (GRCm39) |
L38P |
possibly damaging |
Het |
| Col5a2 |
T |
G |
1: 45,415,855 (GRCm39) |
I1431L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,048,772 (GRCm39) |
G2310D |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,391,528 (GRCm39) |
I39N |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,044,586 (GRCm39) |
|
probably benign |
Het |
| Drgx |
G |
T |
14: 32,330,206 (GRCm39) |
Q136H |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,497 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
T |
C |
5: 25,470,336 (GRCm39) |
I595T |
probably damaging |
Het |
| Gp5 |
G |
A |
16: 30,128,326 (GRCm39) |
A116V |
possibly damaging |
Het |
| Gpn3 |
T |
C |
5: 122,520,303 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,331,644 (GRCm39) |
N221S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,022,079 (GRCm39) |
E989G |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,743,847 (GRCm39) |
|
probably null |
Het |
| Josd2 |
T |
C |
7: 44,120,592 (GRCm39) |
S110P |
probably damaging |
Het |
| Kat14 |
C |
A |
2: 144,217,873 (GRCm39) |
T123K |
probably damaging |
Het |
| Lamtor1 |
C |
T |
7: 101,558,971 (GRCm39) |
T48I |
probably damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,546 (GRCm39) |
L113P |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,504,286 (GRCm39) |
T2561A |
possibly damaging |
Het |
| Mog |
T |
C |
17: 37,331,433 (GRCm39) |
E89G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
T |
C |
3: 89,121,205 (GRCm39) |
Y143C |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,507 (GRCm39) |
E1409G |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,400,676 (GRCm39) |
H410R |
probably damaging |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,486 (GRCm39) |
E233G |
possibly damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,846 (GRCm39) |
E152G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,158 (GRCm39) |
S186P |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,887,269 (GRCm39) |
F222L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,358,429 (GRCm39) |
S2716G |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,001,718 (GRCm39) |
T644A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,932,726 (GRCm39) |
I1918T |
probably damaging |
Het |
| Psmg1 |
A |
T |
16: 95,790,812 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,047,136 (GRCm39) |
R364C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,026,088 (GRCm39) |
I945V |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,088,072 (GRCm39) |
N234S |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,004,010 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,193 (GRCm39) |
R177* |
probably null |
Het |
| Sema4c |
C |
A |
1: 36,589,392 (GRCm39) |
C578F |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,531,668 (GRCm39) |
|
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,875,571 (GRCm39) |
T543A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,687 (GRCm39) |
F123I |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,472,916 (GRCm39) |
R737H |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,866,300 (GRCm39) |
I14T |
possibly damaging |
Het |
| Stradb |
T |
C |
1: 59,019,599 (GRCm39) |
F43L |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,245,866 (GRCm39) |
D1029G |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,613 (GRCm39) |
Y311C |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,995,404 (GRCm39) |
N249I |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,241,573 (GRCm39) |
M2134T |
probably benign |
Het |
| Tg |
G |
A |
15: 66,636,186 (GRCm39) |
G591D |
probably damaging |
Het |
| Tm4sf20 |
T |
A |
1: 82,746,084 (GRCm39) |
I19F |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,888,676 (GRCm39) |
K1262E |
probably benign |
Het |
| Ube2r2 |
A |
G |
4: 41,190,742 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,927 (GRCm39) |
S257P |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,880,077 (GRCm39) |
N1038S |
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,797,262 (GRCm39) |
M530K |
probably damaging |
Het |
| Vmn1r121 |
C |
T |
7: 20,831,538 (GRCm39) |
E301K |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,722,959 (GRCm39) |
H105L |
probably benign |
Het |
| Zgrf1 |
C |
T |
3: 127,355,517 (GRCm39) |
Q248* |
probably null |
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 |
|
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'- GAGAGCTGGTGTGTCAGAAC -3'
(R):5'- TCCATCCTTCAGGTCAGCAATG -3'
Sequencing Primer
(F):5'- CTGGTGTGTCAGAACAAAGAGC -3'
(R):5'- CAGGTCAGCAATGTTGGTAGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation