Incidental Mutation 'IGL01456:Cald1'
| ID |
84791 |
| 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 # |
IGL01456
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34741931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 438
(D438V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000149009]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031775
AA Change: D462V
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: D462V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079391
AA Change: D442V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: D442V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
522 |
4.3e-260 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115021
AA Change: D438V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: D438V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115026
AA Change: D444V
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: D444V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
524 |
4.9e-259 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115027
AA Change: D676V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: D676V
| 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 |
noncoding transcript
Transcript: ENSMUST00000132331
|
| 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 damaging
Transcript: ENSMUST00000149009
AA Change: D436V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: D436V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201956
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,252,595 (GRCm39) |
C242R |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,791 (GRCm39) |
L175P |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,341,510 (GRCm39) |
E938G |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,114,036 (GRCm39) |
N208D |
probably benign |
Het |
| Atr |
A |
G |
9: 95,832,618 (GRCm39) |
H2556R |
possibly damaging |
Het |
| Dcbld2 |
C |
T |
16: 58,229,236 (GRCm39) |
P40S |
possibly damaging |
Het |
| Dock8 |
G |
A |
19: 25,096,863 (GRCm39) |
M590I |
possibly damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,583 (GRCm39) |
|
noncoding transcript |
Het |
| Hace1 |
A |
G |
10: 45,586,094 (GRCm39) |
|
probably benign |
Het |
| Igkv10-96 |
A |
G |
6: 68,609,086 (GRCm39) |
Y70H |
probably benign |
Het |
| Kdm2a |
G |
T |
19: 4,401,783 (GRCm39) |
H200Q |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,499,602 (GRCm39) |
D111G |
possibly damaging |
Het |
| Map7 |
A |
G |
10: 20,149,550 (GRCm39) |
E567G |
unknown |
Het |
| Nbeal1 |
G |
T |
1: 60,269,787 (GRCm39) |
L375F |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,279,216 (GRCm39) |
E254G |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,448,150 (GRCm39) |
I118F |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,269,683 (GRCm39) |
V3287D |
probably damaging |
Het |
| Ptpre |
T |
G |
7: 135,271,531 (GRCm39) |
V375G |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,431,187 (GRCm39) |
E746G |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,253,321 (GRCm39) |
C311Y |
probably damaging |
Het |
| Skor1 |
G |
A |
9: 63,052,772 (GRCm39) |
T399I |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,796,777 (GRCm39) |
T1792A |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tln1 |
G |
A |
4: 43,543,432 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
C |
A |
7: 118,146,533 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,835,068 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,097,211 (GRCm39) |
R1228W |
probably damaging |
Het |
| Vipr1 |
C |
T |
9: 121,494,244 (GRCm39) |
T275M |
probably damaging |
Het |
| Vmn1r177 |
G |
T |
7: 23,565,753 (GRCm39) |
P41Q |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation