Incidental Mutation 'IGL01959:Cald1'
ID |
182331 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cald1
|
Ensembl Gene |
ENSMUSG00000029761 |
Gene Name |
caldesmon 1 |
Synonyms |
C920027I18Rik, 4833423D12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01959
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34730403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 40
(D40G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000142512]
[ENSMUST00000126181]
[ENSMUST00000149009]
|
AlphaFold |
E9QA15 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031775
AA Change: D234G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031775 Gene: ENSMUSG00000029761 AA Change: D234G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000079391
AA Change: D214G
|
SMART Domains |
Protein: ENSMUSP00000078362 Gene: ENSMUSG00000029761 AA Change: D214G
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: D208G
|
SMART Domains |
Protein: ENSMUSP00000110673 Gene: ENSMUSG00000029761 AA Change: D208G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115026
AA Change: D214G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110678 Gene: ENSMUSG00000029761 AA Change: D214G
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: D448G
|
SMART Domains |
Protein: ENSMUSP00000110679 Gene: ENSMUSG00000029761 AA Change: D448G
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 |
unknown
Transcript: ENSMUST00000123823
AA Change: D83G
|
SMART Domains |
Protein: ENSMUSP00000117064 Gene: ENSMUSG00000029761 AA Change: D83G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
210 |
4e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146685
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142512
AA Change: D214G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122926 Gene: ENSMUSG00000029761 AA Change: D214G
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Caldesmon
|
31 |
253 |
9.4e-97 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126181
AA Change: D40G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121911 Gene: ENSMUSG00000029761 AA Change: D40G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
138 |
7.6e-51 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149009
AA Change: D208G
|
SMART Domains |
Protein: ENSMUSP00000138368 Gene: ENSMUSG00000029761 AA Change: D208G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136907
AA Change: D256G
|
SMART Domains |
Protein: ENSMUSP00000121213 Gene: ENSMUSG00000029761 AA Change: D256G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142716
AA Change: D93G
|
SMART Domains |
Protein: ENSMUSP00000116247 Gene: ENSMUSG00000029761 AA Change: D93G
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
274 |
2.7e-63 |
PFAM |
|
Coding Region Coverage |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230009I02Rik |
T |
C |
11: 50,982,645 (GRCm39) |
|
noncoding transcript |
Het |
Aip |
A |
G |
19: 4,171,397 (GRCm39) |
I13T |
probably damaging |
Het |
Cacna2d1 |
C |
T |
5: 16,417,895 (GRCm39) |
P140S |
probably benign |
Het |
Cep250 |
T |
A |
2: 155,825,279 (GRCm39) |
V1052E |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,962,435 (GRCm39) |
N731D |
probably damaging |
Het |
Chml |
C |
T |
1: 175,515,166 (GRCm39) |
V252I |
probably benign |
Het |
Cog8 |
T |
C |
8: 107,783,010 (GRCm39) |
Y93C |
probably damaging |
Het |
Creld1 |
G |
A |
6: 113,469,794 (GRCm39) |
A399T |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,007,133 (GRCm39) |
V80E |
probably damaging |
Het |
Cyp2c37 |
T |
A |
19: 39,984,277 (GRCm39) |
L255* |
probably null |
Het |
Cyp2d12 |
C |
A |
15: 82,439,545 (GRCm39) |
|
probably benign |
Het |
Dimt1 |
A |
G |
13: 107,089,963 (GRCm39) |
I229V |
probably benign |
Het |
Dsc1 |
G |
A |
18: 20,230,282 (GRCm39) |
T341I |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,390,411 (GRCm39) |
F567I |
probably damaging |
Het |
Espl1 |
C |
A |
15: 102,214,097 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
T |
C |
3: 87,166,939 (GRCm39) |
D18G |
probably damaging |
Het |
Fnip1 |
T |
A |
11: 54,381,738 (GRCm39) |
S296R |
possibly damaging |
Het |
Fzd5 |
C |
A |
1: 64,775,105 (GRCm39) |
A219S |
possibly damaging |
Het |
Gbp7 |
A |
G |
3: 142,247,108 (GRCm39) |
|
probably benign |
Het |
Gm3298 |
T |
C |
14: 5,018,731 (GRCm38) |
L162S |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,111 (GRCm39) |
E50G |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,348,093 (GRCm39) |
|
probably null |
Het |
Kazn |
A |
G |
4: 141,878,195 (GRCm39) |
L185P |
probably damaging |
Het |
Kcnh8 |
T |
C |
17: 53,141,635 (GRCm39) |
S293P |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,202,539 (GRCm39) |
T1191A |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,228,705 (GRCm39) |
|
probably benign |
Het |
Msx2 |
C |
T |
13: 53,622,638 (GRCm39) |
|
probably benign |
Het |
Ndufs2 |
T |
G |
1: 171,064,798 (GRCm39) |
I317L |
probably benign |
Het |
Nms |
T |
C |
1: 38,981,006 (GRCm39) |
|
probably benign |
Het |
Oosp3 |
T |
A |
19: 11,678,286 (GRCm39) |
F87L |
probably benign |
Het |
Pask |
A |
G |
1: 93,262,329 (GRCm39) |
V177A |
probably benign |
Het |
Poldip2 |
G |
T |
11: 78,403,133 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
T |
5: 32,987,549 (GRCm39) |
S649T |
possibly damaging |
Het |
Slc6a18 |
T |
A |
13: 73,825,984 (GRCm39) |
N22I |
probably damaging |
Het |
Smco2 |
T |
A |
6: 146,763,208 (GRCm39) |
S228T |
probably benign |
Het |
Speer4a1 |
G |
A |
5: 26,240,902 (GRCm39) |
Q197* |
probably null |
Het |
Speg |
A |
G |
1: 75,367,734 (GRCm39) |
K641R |
probably damaging |
Het |
Strip2 |
G |
A |
6: 29,928,553 (GRCm39) |
V286M |
probably damaging |
Het |
Tnfrsf22 |
C |
T |
7: 143,197,012 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
G |
6: 29,589,019 (GRCm39) |
|
probably benign |
Het |
Top2b |
T |
A |
14: 16,422,695 (GRCm38) |
N1377K |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,418,005 (GRCm39) |
|
probably null |
Het |
Trpm1 |
A |
G |
7: 63,858,723 (GRCm39) |
M266V |
possibly damaging |
Het |
Vmn1r199 |
A |
G |
13: 22,567,290 (GRCm39) |
T195A |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,145,571 (GRCm39) |
V512A |
probably benign |
Het |
Zfp777 |
A |
G |
6: 48,021,275 (GRCm39) |
F116L |
probably benign |
Het |
Zp3r |
T |
A |
1: 130,519,188 (GRCm39) |
K253* |
probably null |
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 |
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 |
R4116:Cald1
|
UTSW |
6 |
34,722,654 (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 |
|
|
Posted On |
2014-05-07 |