Incidental Mutation 'R9793:Cald1'
| ID |
734751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34723071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 52
(M52L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000126181]
[ENSMUST00000142512]
[ENSMUST00000149009]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031775
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079391
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
| 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 benign
Transcript: ENSMUST00000115021
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115026
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
| 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: M246L
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: M246L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: M52L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142512
|
| SMART Domains |
Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
| 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 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: ENSMUST00000149009
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,078,135 (GRCm39) |
|
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,261,129 (GRCm39) |
V656A |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,108,927 (GRCm39) |
Y443H |
probably damaging |
Het |
| Alpk3 |
T |
C |
7: 80,750,881 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
| Cdk11b |
T |
A |
4: 155,732,378 (GRCm39) |
H510Q |
unknown |
Het |
| Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
| Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,985,798 (GRCm39) |
L951F |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,608,357 (GRCm39) |
V1259A |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
| Cyp4a30b |
A |
G |
4: 115,316,167 (GRCm39) |
T298A |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,598,503 (GRCm39) |
D2006E |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,281,441 (GRCm39) |
L617P |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,942,905 (GRCm39) |
I253M |
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,526,315 (GRCm39) |
T183A |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Hdac7 |
T |
C |
15: 97,698,671 (GRCm39) |
T629A |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
| Iqcf3 |
T |
A |
9: 106,434,714 (GRCm39) |
K41N |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,142,887 (GRCm39) |
A1047V |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
G |
T |
1: 13,260,355 (GRCm39) |
Q107K |
possibly damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,232 (GRCm39) |
E1272G |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,882 (GRCm39) |
N174I |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
| Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
| Or52m1 |
G |
A |
7: 102,289,788 (GRCm39) |
V112I |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,514 (GRCm39) |
H174L |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
| Otud7a |
C |
T |
7: 63,378,845 (GRCm39) |
R232W |
probably damaging |
Het |
| Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,800,172 (GRCm39) |
T2978A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,852,551 (GRCm39) |
T1177K |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,039 (GRCm39) |
N176H |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,017,300 (GRCm39) |
N194S |
possibly damaging |
Het |
| Sel1l3 |
C |
A |
5: 53,329,924 (GRCm39) |
R477L |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,850,563 (GRCm39) |
Y851H |
probably damaging |
Het |
| Sirpb1b |
G |
A |
3: 15,640,074 (GRCm39) |
|
probably benign |
Het |
| Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
| Srrt |
G |
C |
5: 137,294,835 (GRCm39) |
I739M |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,839 (GRCm39) |
L81P |
probably damaging |
Het |
| Trim42 |
A |
G |
9: 97,245,429 (GRCm39) |
I457T |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,598 (GRCm39) |
D119G |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
| Vwa3a |
C |
A |
7: 120,383,307 (GRCm39) |
A636D |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,812 (GRCm39) |
F143S |
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 |
|
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 |
|
|
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 |
|
|
|
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'- AAGTCCTACCAGAAGAACAGCTATC -3'
(R):5'- GCAGCGGCTTTCTGTTCTG -3'
Sequencing Primer
(F):5'- CAGCTATCAGGATGCTGAAGAC -3'
(R):5'- GCTTCGACTCTTGCCCG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation