Incidental Mutation 'R4552:Camta1'
| ID |
377805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camta1
|
| Ensembl Gene |
ENSMUSG00000014592 |
| Gene Name |
calmodulin binding transcription activator 1 |
| Synonyms |
2310058O09Rik, 1810059M14Rik |
| MMRRC Submission |
041783-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R4552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
151143980-151946225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151876959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 79
(R79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000153938]
[ENSMUST00000169423]
[ENSMUST00000214673]
|
| AlphaFold |
A2A891 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049790
|
| SMART Domains |
Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3e-13 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1564 |
2.38e2 |
SMART |
|
IQ
|
1578 |
1600 |
5.42e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097774
|
| SMART Domains |
Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3.1e-11 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1570 |
5.45e1 |
SMART |
|
IQ
|
1571 |
1593 |
5.42e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135780
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153938
AA Change: R79G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134684
Gene: ENSMUSG00000014592
AA Change: R79G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169423
|
| SMART Domains |
Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3.1e-11 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1564 |
2.38e2 |
SMART |
|
IQ
|
1578 |
1600 |
5.42e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185034
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214673
AA Change: R79G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0782 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
97% (62/64) |
| MGI Phenotype |
PHENOTYPE: Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,218,533 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,260,936 (GRCm39) |
E309G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,071,789 (GRCm39) |
T100A |
probably benign |
Het |
| Dalrd3 |
A |
G |
9: 108,449,429 (GRCm39) |
D454G |
possibly damaging |
Het |
| Ddx19a |
G |
A |
8: 111,705,198 (GRCm39) |
Q308* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,359,047 (GRCm39) |
N395S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,943,769 (GRCm39) |
D3125G |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,397,300 (GRCm39) |
V3331A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,578 (GRCm39) |
Y677C |
probably damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Hid1 |
G |
A |
11: 115,249,505 (GRCm39) |
T240M |
possibly damaging |
Het |
| Igbp1b |
T |
A |
6: 138,635,112 (GRCm39) |
M111L |
probably benign |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Klk4 |
C |
A |
7: 43,533,443 (GRCm39) |
H101N |
probably benign |
Het |
| Mrgpra2b |
C |
A |
7: 47,113,754 (GRCm39) |
S300I |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,385,938 (GRCm39) |
|
probably null |
Het |
| Nif3l1 |
C |
T |
1: 58,488,483 (GRCm39) |
|
probably benign |
Het |
| Noct |
T |
A |
3: 51,157,589 (GRCm39) |
I309N |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,856,844 (GRCm39) |
T600S |
probably benign |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,430 (GRCm39) |
V167A |
possibly damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,777 (GRCm39) |
M180L |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,737,992 (GRCm39) |
M196V |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,285 (GRCm39) |
S1141P |
unknown |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Ppargc1a |
C |
T |
5: 51,620,557 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,346 (GRCm39) |
I416L |
probably benign |
Het |
| Rhpn1 |
G |
A |
15: 75,585,968 (GRCm39) |
R627H |
probably benign |
Het |
| Ric8a |
G |
A |
7: 140,441,250 (GRCm39) |
G182S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,443,718 (GRCm39) |
D895G |
probably damaging |
Het |
| Rrp1b |
G |
A |
17: 32,274,984 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,561,210 (GRCm39) |
D636E |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,354,523 (GRCm39) |
D333G |
probably benign |
Het |
| Sema6a |
A |
G |
18: 47,424,990 (GRCm39) |
L207P |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,799,779 (GRCm39) |
Y160* |
probably null |
Het |
| Slc27a1 |
A |
T |
8: 72,032,710 (GRCm39) |
|
probably null |
Het |
| Ston2 |
C |
T |
12: 91,608,646 (GRCm39) |
R818Q |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,570,953 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,667 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,525,055 (GRCm39) |
D31V |
probably benign |
Het |
| Vmn2r-ps41 |
A |
T |
7: 9,180,063 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Camta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Camta1
|
APN |
4 |
151,155,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00823:Camta1
|
APN |
4 |
151,169,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01361:Camta1
|
APN |
4 |
151,229,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Camta1
|
APN |
4 |
151,229,507 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01730:Camta1
|
APN |
4 |
151,147,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02045:Camta1
|
APN |
4 |
151,158,442 (GRCm39) |
splice site |
probably null |
|
|
IGL02541:Camta1
|
APN |
4 |
151,169,112 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02839:Camta1
|
APN |
4 |
151,228,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Camta1
|
APN |
4 |
151,537,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bonus
|
UTSW |
4 |
151,222,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Camta1
|
UTSW |
4 |
151,168,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB020:Camta1
|
UTSW |
4 |
151,168,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4449001:Camta1
|
UTSW |
4 |
151,216,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0136:Camta1
|
UTSW |
4 |
151,163,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0239:Camta1
|
UTSW |
4 |
151,228,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Camta1
|
UTSW |
4 |
151,228,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Camta1
|
UTSW |
4 |
151,670,888 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0385:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0478:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Camta1
|
UTSW |
4 |
151,159,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Camta1
|
UTSW |
4 |
151,162,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Camta1
|
UTSW |
4 |
151,670,941 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1549:Camta1
|
UTSW |
4 |
151,670,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Camta1
|
UTSW |
4 |
151,164,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1704:Camta1
|
UTSW |
4 |
151,159,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Camta1
|
UTSW |
4 |
151,168,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1941:Camta1
|
UTSW |
4 |
151,159,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Camta1
|
UTSW |
4 |
151,173,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1998:Camta1
|
UTSW |
4 |
151,162,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Camta1
|
UTSW |
4 |
151,228,699 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2104:Camta1
|
UTSW |
4 |
151,537,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2240:Camta1
|
UTSW |
4 |
151,169,032 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4516:Camta1
|
UTSW |
4 |
151,229,177 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4539:Camta1
|
UTSW |
4 |
151,169,269 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4610:Camta1
|
UTSW |
4 |
151,169,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Camta1
|
UTSW |
4 |
151,228,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Camta1
|
UTSW |
4 |
151,232,953 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4786:Camta1
|
UTSW |
4 |
151,374,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Camta1
|
UTSW |
4 |
151,215,999 (GRCm39) |
missense |
probably null |
0.25 |
|
R4840:Camta1
|
UTSW |
4 |
151,228,864 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5038:Camta1
|
UTSW |
4 |
151,229,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Camta1
|
UTSW |
4 |
151,158,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Camta1
|
UTSW |
4 |
151,248,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Camta1
|
UTSW |
4 |
151,159,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Camta1
|
UTSW |
4 |
151,229,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6343:Camta1
|
UTSW |
4 |
151,164,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6462:Camta1
|
UTSW |
4 |
151,170,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6550:Camta1
|
UTSW |
4 |
151,222,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Camta1
|
UTSW |
4 |
151,229,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7165:Camta1
|
UTSW |
4 |
151,169,157 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7190:Camta1
|
UTSW |
4 |
151,232,980 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7215:Camta1
|
UTSW |
4 |
151,229,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Camta1
|
UTSW |
4 |
151,537,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Camta1
|
UTSW |
4 |
151,537,752 (GRCm39) |
nonsense |
probably null |
|
|
R7445:Camta1
|
UTSW |
4 |
151,228,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7447:Camta1
|
UTSW |
4 |
151,168,327 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7585:Camta1
|
UTSW |
4 |
151,229,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Camta1
|
UTSW |
4 |
151,232,863 (GRCm39) |
splice site |
probably null |
|
|
R7881:Camta1
|
UTSW |
4 |
151,920,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7933:Camta1
|
UTSW |
4 |
151,168,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7960:Camta1
|
UTSW |
4 |
151,232,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8057:Camta1
|
UTSW |
4 |
151,228,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Camta1
|
UTSW |
4 |
151,163,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Camta1
|
UTSW |
4 |
151,168,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8247:Camta1
|
UTSW |
4 |
151,159,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Camta1
|
UTSW |
4 |
151,170,577 (GRCm39) |
nonsense |
probably null |
|
|
R9035:Camta1
|
UTSW |
4 |
151,229,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9332:Camta1
|
UTSW |
4 |
151,228,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9358:Camta1
|
UTSW |
4 |
151,222,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Camta1
|
UTSW |
4 |
151,168,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9649:Camta1
|
UTSW |
4 |
151,216,004 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0063:Camta1
|
UTSW |
4 |
151,229,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Camta1
|
UTSW |
4 |
151,228,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Camta1
|
UTSW |
4 |
151,162,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCAGTGTGCTGCAATTGGAG -3'
(R):5'- TCCTAGCCACTTCCAATTGG -3'
Sequencing Primer
(F):5'- TTGGAGAGATGAAATGTTACAGCTTG -3'
(R):5'- TGGAAACATTTGAGGCTTCAATATG -3'
|
| Posted On |
2016-04-06 |
Incidental Mutation