Incidental Mutation 'R5140:Cald1'
ID |
396394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cald1
|
Ensembl Gene |
ENSMUSG00000029761 |
Gene Name |
caldesmon 1 |
Synonyms |
C920027I18Rik, 4833423D12Rik |
MMRRC Submission |
042726-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5140 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34730515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 77
(N77K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121911
(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: N271K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031775 Gene: ENSMUSG00000029761 AA Change: N271K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000079391
AA Change: N251K
|
SMART Domains |
Protein: ENSMUSP00000078362 Gene: ENSMUSG00000029761 AA Change: N251K
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: N245K
|
SMART Domains |
Protein: ENSMUSP00000110673 Gene: ENSMUSG00000029761 AA Change: N245K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115026
AA Change: N251K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110678 Gene: ENSMUSG00000029761 AA Change: N251K
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: N485K
|
SMART Domains |
Protein: ENSMUSP00000110679 Gene: ENSMUSG00000029761 AA Change: N485K
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: N120K
|
SMART Domains |
Protein: ENSMUSP00000117064 Gene: ENSMUSG00000029761 AA Change: N120K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
210 |
4e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126181
AA Change: N77K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121911 Gene: ENSMUSG00000029761 AA Change: N77K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
138 |
7.6e-51 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142716
AA Change: N130K
|
SMART Domains |
Protein: ENSMUSP00000116247 Gene: ENSMUSG00000029761 AA Change: N130K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
1 |
274 |
2.7e-63 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142512
AA Change: N251K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122926 Gene: ENSMUSG00000029761 AA Change: N251K
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: N245K
|
SMART Domains |
Protein: ENSMUSP00000138368 Gene: ENSMUSG00000029761 AA Change: N245K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136907
AA Change: N293K
|
SMART Domains |
Protein: ENSMUSP00000121213 Gene: ENSMUSG00000029761 AA Change: N293K
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146685
|
Meta Mutation Damage Score |
0.0851 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (59/60) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,752,154 (GRCm39) |
I405N |
probably damaging |
Het |
Abhd17b |
T |
C |
19: 21,661,545 (GRCm39) |
L244P |
probably damaging |
Het |
Aebp2 |
T |
A |
6: 140,579,532 (GRCm39) |
C34* |
probably null |
Het |
Arhgap33 |
A |
G |
7: 30,227,726 (GRCm39) |
V491A |
probably damaging |
Het |
Cacul1 |
C |
T |
19: 60,551,619 (GRCm39) |
R201Q |
probably benign |
Het |
Clcn6 |
A |
C |
4: 148,122,774 (GRCm39) |
|
probably benign |
Het |
Copb1 |
A |
T |
7: 113,846,035 (GRCm39) |
H178Q |
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,977,771 (GRCm39) |
V1854I |
probably damaging |
Het |
Dnajc16 |
T |
G |
4: 141,491,994 (GRCm39) |
T610P |
possibly damaging |
Het |
Enpp1 |
T |
C |
10: 24,528,750 (GRCm39) |
N624S |
possibly damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,252,459 (GRCm39) |
T310A |
probably benign |
Het |
Galnt16 |
T |
A |
12: 80,628,073 (GRCm39) |
D256E |
possibly damaging |
Het |
Gbp11 |
T |
C |
5: 105,478,919 (GRCm39) |
D173G |
probably damaging |
Het |
Glmn |
A |
G |
5: 107,718,066 (GRCm39) |
S284P |
probably damaging |
Het |
Gm3985 |
A |
G |
8: 33,380,693 (GRCm39) |
|
noncoding transcript |
Het |
Hs3st6 |
A |
T |
17: 24,977,521 (GRCm39) |
M334L |
probably benign |
Het |
Idua |
T |
A |
5: 108,828,180 (GRCm39) |
D155E |
probably damaging |
Het |
Kdm6b |
T |
C |
11: 69,290,881 (GRCm39) |
|
probably benign |
Het |
Kiss1r |
T |
C |
10: 79,757,461 (GRCm39) |
F272L |
probably damaging |
Het |
Krt35 |
T |
C |
11: 99,985,343 (GRCm39) |
K233E |
probably damaging |
Het |
Krt36 |
C |
T |
11: 99,994,328 (GRCm39) |
V250M |
probably damaging |
Het |
Lhpp |
T |
C |
7: 132,307,361 (GRCm39) |
Y253H |
probably damaging |
Het |
Npas3 |
T |
A |
12: 53,547,897 (GRCm39) |
L51* |
probably null |
Het |
Or10ac1 |
T |
C |
6: 42,515,449 (GRCm39) |
H169R |
probably benign |
Het |
Or1j18 |
T |
A |
2: 36,624,510 (GRCm39) |
M59K |
possibly damaging |
Het |
Or4a74 |
T |
C |
2: 89,439,627 (GRCm39) |
Y273C |
probably damaging |
Het |
Or4c119 |
T |
C |
2: 88,987,451 (GRCm39) |
K23E |
probably benign |
Het |
Or56b2 |
T |
C |
7: 104,338,107 (GRCm39) |
M295T |
probably benign |
Het |
Pcdhb9 |
T |
G |
18: 37,534,186 (GRCm39) |
V60G |
probably benign |
Het |
Prkce |
T |
C |
17: 86,789,570 (GRCm39) |
V239A |
probably benign |
Het |
Ralgapa1 |
C |
T |
12: 55,822,937 (GRCm39) |
C293Y |
probably damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,712,459 (GRCm39) |
R1804Q |
probably damaging |
Het |
Rnf26 |
C |
A |
9: 44,024,071 (GRCm39) |
|
probably null |
Het |
Safb2 |
T |
C |
17: 56,884,901 (GRCm39) |
D178G |
probably benign |
Het |
Scn9a |
C |
T |
2: 66,395,511 (GRCm39) |
V178M |
possibly damaging |
Het |
Sergef |
A |
G |
7: 46,285,026 (GRCm39) |
|
probably benign |
Het |
Serpinb9 |
G |
A |
13: 33,190,544 (GRCm39) |
G7R |
probably benign |
Het |
Setd2 |
C |
A |
9: 110,380,197 (GRCm39) |
D1337E |
probably benign |
Het |
Shprh |
T |
A |
10: 11,030,449 (GRCm39) |
M222K |
probably benign |
Het |
Slc25a40 |
T |
C |
5: 8,480,486 (GRCm39) |
Y79H |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,133,155 (GRCm39) |
M297T |
probably damaging |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spcs1 |
A |
G |
14: 30,722,570 (GRCm39) |
L83S |
probably benign |
Het |
Sult1c2 |
T |
C |
17: 54,276,743 (GRCm39) |
N106S |
probably benign |
Het |
Szt2 |
C |
T |
4: 118,244,178 (GRCm39) |
R1309Q |
possibly damaging |
Het |
Ube3c |
T |
A |
5: 29,840,709 (GRCm39) |
F695I |
probably damaging |
Het |
Uimc1 |
A |
G |
13: 55,223,330 (GRCm39) |
L314P |
probably damaging |
Het |
Usp17le |
C |
T |
7: 104,418,645 (GRCm39) |
E166K |
probably damaging |
Het |
Vmn2r92 |
G |
A |
17: 18,372,312 (GRCm39) |
D41N |
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 |
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 |
|
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'- TGGTTGCTCTACCTCAAATCTAATG -3'
(R):5'- GCTGGTCTACTGTCAGTGAC -3'
Sequencing Primer
(F):5'- GCTCTACCTCAAATCTAATGACTTC -3'
(R):5'- GACAGGGTATCTTTAAGTCAATGGCC -3'
|
Posted On |
2016-06-21 |