Incidental Mutation 'R0701:Cald1'
| ID |
63008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
038884-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0701 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AAGAGAGAGAGAGAG to AAGAGAGAGAGAG
at 34723108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
Transcript: ENSMUST00000115027
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
| 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 |
probably null
Transcript: ENSMUST00000136907
|
| SMART Domains |
Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154182
|
| 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: ENSMUST00000149009
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.3%
|
| 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 |
|---|
| Ada |
A |
G |
2: 163,571,995 (GRCm39) |
V261A |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,877 (GRCm39) |
E473K |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,206,181 (GRCm39) |
C72F |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,227,499 (GRCm39) |
L186P |
probably damaging |
Het |
| C9 |
A |
C |
15: 6,496,902 (GRCm39) |
T200P |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Copg1 |
T |
A |
6: 87,871,089 (GRCm39) |
Y268* |
probably null |
Het |
| Csad |
A |
G |
15: 102,087,571 (GRCm39) |
S331P |
probably benign |
Het |
| Ddx31 |
G |
T |
2: 28,748,789 (GRCm39) |
R239L |
probably null |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Fig4 |
T |
A |
10: 41,116,508 (GRCm39) |
R628* |
probably null |
Het |
| Fmnl3 |
T |
C |
15: 99,219,188 (GRCm39) |
N778S |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Haus3 |
G |
A |
5: 34,323,359 (GRCm39) |
T417M |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Hoxb3 |
C |
A |
11: 96,237,074 (GRCm39) |
S384* |
probably null |
Het |
| Ifnar2 |
A |
G |
16: 91,201,117 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,678,581 (GRCm39) |
V220A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,069,905 (GRCm39) |
V37E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,712,080 (GRCm39) |
T581M |
probably benign |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,263 (GRCm39) |
D1313E |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,314,677 (GRCm39) |
I503K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,094 (GRCm39) |
F1089L |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,655 (GRCm39) |
I221N |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,359,706 (GRCm39) |
D259V |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab27b |
A |
T |
18: 70,118,270 (GRCm39) |
C216S |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,843,762 (GRCm39) |
I151T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,783,747 (GRCm39) |
D227G |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,848,378 (GRCm39) |
T632K |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Stap1 |
T |
C |
5: 86,242,667 (GRCm39) |
|
probably null |
Het |
| Syt16 |
G |
A |
12: 74,281,886 (GRCm39) |
V337I |
probably benign |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,728,412 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,419,829 (GRCm39) |
E144G |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zap70 |
G |
A |
1: 36,820,258 (GRCm39) |
R513Q |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTCATCAAGTCCTACCAGAAGAAC -3'
(R):5'- CACAGTGCTTACTGTACCTGCGTC -3'
Sequencing Primer
(F):5'- CAGCTATCAGGATGCTGAAGAC -3'
(R):5'- cctccctcctctctctctc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation