Incidental Mutation 'R9184:Cald1'
| ID |
697244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
068979-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34730512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 244
(E244D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110673
(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: E270D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: E270D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000079391
AA Change: E250D
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: E250D
| 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: E244D
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: E244D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115026
AA Change: E250D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: E250D
| 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: E484D
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: E484D
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761
AA Change: E119D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
1 |
210 |
4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126181
AA Change: E76D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761
AA Change: E76D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
1 |
138 |
7.6e-51 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: E292D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142512
AA Change: E250D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: E250D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
253 |
9.4e-97 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761
AA Change: E129D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
1 |
274 |
2.7e-63 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149009
AA Change: E244D
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: E244D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,233,901 (GRCm39) |
V199A |
unknown |
Het |
| Abca7 |
A |
G |
10: 79,838,690 (GRCm39) |
H621R |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,137,847 (GRCm39) |
N331I |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,621,152 (GRCm39) |
S475P |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,779 (GRCm39) |
V148A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,291,887 (GRCm39) |
L21P |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,214 (GRCm39) |
L692S |
probably damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,365,180 (GRCm39) |
V25A |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,972,301 (GRCm39) |
F1368I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,919,308 (GRCm39) |
C680Y |
probably null |
Het |
| Chd1 |
T |
A |
17: 15,962,551 (GRCm39) |
N769K |
possibly damaging |
Het |
| Clasp1 |
T |
A |
1: 118,470,908 (GRCm39) |
V848E |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
G |
T |
14: 63,375,544 (GRCm39) |
G170V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,340,552 (GRCm39) |
K2320E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,036,592 (GRCm39) |
I3415F |
probably damaging |
Het |
| Fibcd1 |
A |
G |
2: 31,706,488 (GRCm39) |
S448P |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,805,542 (GRCm39) |
K71E |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,331 (GRCm39) |
V350I |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,368,311 (GRCm39) |
S1032T |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,509,007 (GRCm39) |
T326A |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 35,082,168 (GRCm39) |
R146H |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kcnk15 |
G |
A |
2: 163,700,606 (GRCm39) |
V282M |
probably benign |
Het |
| Klk1b8 |
A |
G |
7: 43,602,158 (GRCm39) |
N30S |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,540,911 (GRCm39) |
Y454* |
probably null |
Het |
| Mcam |
T |
C |
9: 44,046,545 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,596,182 (GRCm39) |
L1047S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,767 (GRCm39) |
I81T |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,958 (GRCm39) |
D105E |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,072,067 (GRCm39) |
L592P |
probably damaging |
Het |
| Nnt |
C |
A |
13: 119,518,270 (GRCm39) |
K302N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or4c103 |
C |
A |
2: 88,513,519 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,294 (GRCm39) |
I8F |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,138 (GRCm39) |
I151V |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,460 (GRCm39) |
I670F |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,962,143 (GRCm39) |
E75G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,249 (GRCm39) |
N1275K |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,048,321 (GRCm39) |
Q134K |
probably benign |
Het |
| Poli |
T |
A |
18: 70,642,250 (GRCm39) |
H650L |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,388,505 (GRCm39) |
P355L |
possibly damaging |
Het |
| Prkaca |
G |
A |
8: 84,717,305 (GRCm39) |
G194D |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,980,175 (GRCm39) |
Y371F |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,818,882 (GRCm38) |
|
probably benign |
Het |
| Rarb |
C |
T |
14: 16,818,881 (GRCm38) |
|
probably benign |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,269,393 (GRCm39) |
V42G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,834 (GRCm39) |
I41F |
possibly damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,630 (GRCm39) |
V602M |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,334,224 (GRCm39) |
S417P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,171 (GRCm39) |
D194E |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,056 (GRCm39) |
V112E |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,521,979 (GRCm39) |
M733K |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,241,726 (GRCm39) |
S1655L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,599,949 (GRCm39) |
I19075N |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,771,890 (GRCm39) |
T1437I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,822 (GRCm39) |
I159F |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,382,300 (GRCm39) |
V450A |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,743,475 (GRCm39) |
H314L |
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 |
|
|
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 |
|
|
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'- CTGGATGGTTGCTCTACCTC -3'
(R):5'- TGCTGGTCTACTGTCAGTGAC -3'
Sequencing Primer
(F):5'- GGATGGTTGCTCTACCTCAAATC -3'
(R):5'- GACAGGGTATCTTTAAGTCAATGGCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation