Incidental Mutation 'R4116:Cald1'
ID |
314628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cald1
|
Ensembl Gene |
ENSMUSG00000029761 |
Gene Name |
caldesmon 1 |
Synonyms |
C920027I18Rik, 4833423D12Rik |
MMRRC Submission |
040859-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4116 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34722654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 107
(R107C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000126181]
[ENSMUST00000142512]
[ENSMUST00000149009]
|
AlphaFold |
E9QA15 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031775
AA Change: R101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031775 Gene: ENSMUSG00000029761 AA Change: R101C
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000079391
AA Change: R107C
|
SMART Domains |
Protein: ENSMUSP00000078362 Gene: ENSMUSG00000029761 AA Change: R107C
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Caldesmon
|
31 |
522 |
4.3e-260 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000115021
AA Change: R101C
|
SMART Domains |
Protein: ENSMUSP00000110673 Gene: ENSMUSG00000029761 AA Change: R101C
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115026
AA Change: R107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110678 Gene: ENSMUSG00000029761 AA Change: R107C
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Caldesmon
|
31 |
524 |
4.9e-259 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000115027
AA Change: R107C
|
SMART Domains |
Protein: ENSMUSP00000110679 Gene: ENSMUSG00000029761 AA Change: R107C
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Caldesmon
|
31 |
363 |
8.4e-34 |
PFAM |
Pfam:Caldesmon
|
243 |
755 |
3.8e-144 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123823
|
SMART Domains |
Protein: ENSMUSP00000117064 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
210 |
4e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126181
|
SMART Domains |
Protein: ENSMUSP00000121911 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
138 |
7.6e-51 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142512
AA Change: R107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122926 Gene: ENSMUSG00000029761 AA Change: R107C
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Caldesmon
|
31 |
253 |
9.4e-97 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149009
AA Change: R101C
|
SMART Domains |
Protein: ENSMUSP00000138368 Gene: ENSMUSG00000029761 AA Change: R101C
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146685
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142716
|
SMART Domains |
Protein: ENSMUSP00000116247 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
274 |
2.7e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136907
|
SMART Domains |
Protein: ENSMUSP00000121213 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Some homozygous mutant mice develop hernia and those that do, die within 5-7 hours after birth. Mice homozygous for a different targeted allele fail to develop. Mice heterozygous for this allele exhibit increased urinary bladder weight, smooth muscle bundles and non-voiding contractions. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,634,817 (GRCm39) |
F395L |
possibly damaging |
Het |
Amigo1 |
C |
T |
3: 108,095,761 (GRCm39) |
T420I |
probably damaging |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Sema4f |
G |
A |
6: 82,894,887 (GRCm39) |
T436M |
probably benign |
Het |
Sf3a2 |
A |
G |
10: 80,637,175 (GRCm39) |
T37A |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,227,615 (GRCm39) |
L210P |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cald1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01140:Cald1
|
APN |
6 |
34,739,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01456:Cald1
|
APN |
6 |
34,741,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01822:Cald1
|
APN |
6 |
34,730,507 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01959:Cald1
|
APN |
6 |
34,730,403 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02307:Cald1
|
APN |
6 |
34,730,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03122:Cald1
|
APN |
6 |
34,741,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Cald1
|
UTSW |
6 |
34,692,394 (GRCm39) |
intron |
probably benign |
|
R0071:Cald1
|
UTSW |
6 |
34,735,069 (GRCm39) |
splice site |
probably benign |
|
R0071:Cald1
|
UTSW |
6 |
34,735,069 (GRCm39) |
splice site |
probably benign |
|
R0701:Cald1
|
UTSW |
6 |
34,723,108 (GRCm39) |
frame shift |
probably null |
|
R0776:Cald1
|
UTSW |
6 |
34,723,108 (GRCm39) |
frame shift |
probably null |
|
R1053:Cald1
|
UTSW |
6 |
34,732,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Cald1
|
UTSW |
6 |
34,722,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:Cald1
|
UTSW |
6 |
34,723,108 (GRCm39) |
frame shift |
probably null |
|
R2157:Cald1
|
UTSW |
6 |
34,662,976 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2973:Cald1
|
UTSW |
6 |
34,734,931 (GRCm39) |
unclassified |
probably benign |
|
R3839:Cald1
|
UTSW |
6 |
34,722,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R4674:Cald1
|
UTSW |
6 |
34,723,108 (GRCm39) |
frame shift |
probably null |
|
R5140:Cald1
|
UTSW |
6 |
34,730,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R5254:Cald1
|
UTSW |
6 |
34,723,351 (GRCm39) |
intron |
probably benign |
|
R5620:Cald1
|
UTSW |
6 |
34,739,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R5648:Cald1
|
UTSW |
6 |
34,739,267 (GRCm39) |
splice site |
probably null |
|
R5651:Cald1
|
UTSW |
6 |
34,739,255 (GRCm39) |
missense |
probably damaging |
0.98 |
R5783:Cald1
|
UTSW |
6 |
34,730,468 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5872:Cald1
|
UTSW |
6 |
34,748,043 (GRCm39) |
nonsense |
probably null |
|
R5999:Cald1
|
UTSW |
6 |
34,723,273 (GRCm39) |
intron |
probably benign |
|
R6218:Cald1
|
UTSW |
6 |
34,724,863 (GRCm39) |
frame shift |
probably null |
|
R6347:Cald1
|
UTSW |
6 |
34,741,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Cald1
|
UTSW |
6 |
34,723,575 (GRCm39) |
critical splice donor site |
probably null |
|
R7120:Cald1
|
UTSW |
6 |
34,663,011 (GRCm39) |
critical splice donor site |
probably null |
|
R7147:Cald1
|
UTSW |
6 |
34,723,231 (GRCm39) |
missense |
|
|
R7385:Cald1
|
UTSW |
6 |
34,663,000 (GRCm39) |
missense |
probably damaging |
0.99 |
R7516:Cald1
|
UTSW |
6 |
34,686,492 (GRCm39) |
start gained |
probably benign |
|
R7841:Cald1
|
UTSW |
6 |
34,722,696 (GRCm39) |
missense |
unknown |
|
R8732:Cald1
|
UTSW |
6 |
34,734,946 (GRCm39) |
missense |
unknown |
|
R9151:Cald1
|
UTSW |
6 |
34,732,682 (GRCm39) |
missense |
unknown |
|
R9184:Cald1
|
UTSW |
6 |
34,730,512 (GRCm39) |
missense |
unknown |
|
R9529:Cald1
|
UTSW |
6 |
34,662,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R9792:Cald1
|
UTSW |
6 |
34,723,071 (GRCm39) |
missense |
|
|
R9793:Cald1
|
UTSW |
6 |
34,723,071 (GRCm39) |
missense |
|
|
R9795:Cald1
|
UTSW |
6 |
34,723,071 (GRCm39) |
missense |
|
|
X0064:Cald1
|
UTSW |
6 |
34,723,140 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCATGTGAGCTGGATACTG -3'
(R):5'- CTTCTGGTAGGACTTGATGACCAC -3'
Sequencing Primer
(F):5'- GATACTGCTGGTGCCTGCTC -3'
(R):5'- AGGACTTGATGACCACTTCTG -3'
|
Posted On |
2015-05-14 |