Incidental Mutation 'R8466:Camta1'
| ID |
656820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camta1
|
| Ensembl Gene |
ENSMUSG00000014592 |
| Gene Name |
calmodulin binding transcription activator 1 |
| Synonyms |
2310058O09Rik, 1810059M14Rik |
| MMRRC Submission |
067910-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R8466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
151143980-151946225 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 151170577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1055
(K1055*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049790]
[ENSMUST00000097774]
[ENSMUST00000105667]
[ENSMUST00000105668]
[ENSMUST00000105670]
[ENSMUST00000131948]
[ENSMUST00000169423]
|
| AlphaFold |
A2A891 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049790
AA Change: K1055*
|
| SMART Domains |
Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: K1055*
| 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 null
Transcript: ENSMUST00000097774
AA Change: K1055*
|
| SMART Domains |
Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: K1055*
| 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 |
probably benign
Transcript: ENSMUST00000105667
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105668
AA Change: K77*
|
| SMART Domains |
Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592
AA Change: K77*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
|
ANK
|
88 |
117 |
1.7e2 |
SMART |
|
ANK
|
133 |
163 |
4.73e2 |
SMART |
|
Blast:ANK
|
167 |
197 |
6e-10 |
BLAST |
|
IQ
|
457 |
473 |
2.38e2 |
SMART |
|
IQ
|
487 |
509 |
5.42e0 |
SMART |
|
Pfam:IQ
|
512 |
527 |
5.1e-4 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105670
AA Change: K77*
|
| SMART Domains |
Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592
AA Change: K77*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
|
ANK
|
88 |
117 |
1.7e2 |
SMART |
|
ANK
|
133 |
163 |
4.73e2 |
SMART |
|
Blast:ANK
|
167 |
197 |
5e-10 |
BLAST |
|
IQ
|
457 |
479 |
5.45e1 |
SMART |
|
IQ
|
480 |
502 |
5.42e0 |
SMART |
|
Pfam:IQ
|
505 |
520 |
5.1e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131948
|
| SMART Domains |
Protein: ENSMUSP00000118969
Gene: ENSMUSG00000014592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169423
AA Change: K1055*
|
| SMART Domains |
Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: K1055*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,437,873 (GRCm39) |
E94G |
probably benign |
Het |
| Abhd16a |
G |
T |
17: 35,313,236 (GRCm39) |
R118L |
probably damaging |
Het |
| Adamts1 |
A |
G |
16: 85,599,400 (GRCm39) |
S67P |
probably benign |
Het |
| Adar |
C |
T |
3: 89,658,466 (GRCm39) |
P656L |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,216,648 (GRCm39) |
D296N |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,088,659 (GRCm39) |
R2096Q |
probably damaging |
Het |
| Aldh1a2 |
T |
A |
9: 71,160,205 (GRCm39) |
I77K |
probably benign |
Het |
| Cacnb4 |
A |
C |
2: 52,354,679 (GRCm39) |
V233G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,987 (GRCm39) |
Q286L |
probably damaging |
Het |
| Ccdc96 |
C |
A |
5: 36,642,252 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,160,073 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Ddx24 |
G |
T |
12: 103,376,160 (GRCm39) |
L779I |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,336 (GRCm39) |
E378G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,438,621 (GRCm39) |
N172D |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,466 (GRCm39) |
Q280H |
possibly damaging |
Het |
| Gprin3 |
T |
A |
6: 59,331,467 (GRCm39) |
Q280L |
probably benign |
Het |
| Gucy2d |
C |
A |
7: 98,099,237 (GRCm39) |
P351Q |
probably damaging |
Het |
| H2-M11 |
G |
A |
17: 36,858,985 (GRCm39) |
G175D |
probably benign |
Het |
| Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,120,948 (GRCm39) |
E2695K |
|
Het |
| Lsg1 |
T |
C |
16: 30,400,919 (GRCm39) |
Q130R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,554,444 (GRCm39) |
T3950A |
unknown |
Het |
| Myo1c |
G |
A |
11: 75,549,213 (GRCm39) |
R109H |
probably damaging |
Het |
| Nol4 |
C |
A |
18: 23,171,638 (GRCm39) |
A8S |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,855,913 (GRCm39) |
T160S |
probably damaging |
Het |
| Or1p1b |
A |
G |
11: 74,131,016 (GRCm39) |
I209V |
probably benign |
Het |
| Pabpn1l |
C |
T |
8: 123,347,625 (GRCm39) |
V216M |
possibly damaging |
Het |
| Papln |
A |
C |
12: 83,825,255 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
A |
T |
19: 17,549,864 (GRCm39) |
C709* |
probably null |
Het |
| Pglyrp3 |
T |
A |
3: 91,921,941 (GRCm39) |
V3E |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,130,963 (GRCm39) |
N831D |
probably damaging |
Het |
| Prp2rt |
T |
C |
13: 97,235,492 (GRCm39) |
D85G |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,215,802 (GRCm39) |
D40G |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,316,057 (GRCm39) |
F208S |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,985 (GRCm39) |
N117K |
probably damaging |
Het |
| Srsf9 |
G |
C |
5: 115,465,492 (GRCm39) |
R42P |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,785,924 (GRCm39) |
I451N |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,428,367 (GRCm39) |
Y301* |
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,033,216 (GRCm39) |
S1065P |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,350,630 (GRCm39) |
L39Q |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,654,365 (GRCm39) |
S241T |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,783,997 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr76 |
A |
C |
2: 121,341,038 (GRCm39) |
N28H |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,310,353 (GRCm39) |
Y731F |
possibly damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,307,762 (GRCm39) |
E329D |
probably damaging |
Het |
| Zswim8 |
A |
T |
14: 20,760,744 (GRCm39) |
Q83L |
possibly damaging |
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 |
|
R4552:Camta1
|
UTSW |
4 |
151,876,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- ACACTGAGCGAGCAGATTCC -3'
(R):5'- GCACACACCTGTACTCATGC -3'
Sequencing Primer
(F):5'- GAGCAGATTCCTGGGCAC -3'
(R):5'- TAAAACTGTGTGTGCAAGCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation