Incidental Mutation 'R6218:Cald1'
| ID |
503836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6218 (G1)
|
| Quality Score |
159.468 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CAAAA to CAAA
at 34724863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000126181]
[ENSMUST00000149009]
[ENSMUST00000142512]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000123823
|
| SMART Domains |
Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
1 |
210 |
4e-29 |
PFAM |
|
| Predicted Effect |
probably null
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 |
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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
G |
T |
11: 99,728,730 (GRCm39) |
Q38K |
probably benign |
Het |
| 9930111J21Rik2 |
A |
T |
11: 48,910,134 (GRCm39) |
N766K |
probably benign |
Het |
| Adam15 |
A |
C |
3: 89,251,190 (GRCm39) |
I505S |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,142,254 (GRCm39) |
M391T |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bclaf1 |
A |
G |
10: 20,210,374 (GRCm39) |
S840G |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,216,021 (GRCm39) |
Y96C |
probably damaging |
Het |
| Ddhd1 |
A |
G |
14: 45,851,633 (GRCm39) |
L141P |
probably damaging |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,671 (GRCm39) |
S469T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,778,828 (GRCm39) |
M323K |
possibly damaging |
Het |
| Eci2 |
T |
A |
13: 35,177,048 (GRCm39) |
|
probably null |
Het |
| Fam227b |
A |
T |
2: 125,968,882 (GRCm39) |
V64E |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,070,054 (GRCm39) |
I524V |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm3443 |
T |
A |
19: 21,533,110 (GRCm39) |
S25T |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,616 (GRCm39) |
K14* |
probably null |
Het |
| Grip1 |
T |
C |
10: 119,822,251 (GRCm39) |
S405P |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,877,738 (GRCm39) |
H1020R |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,087 (GRCm39) |
V2136L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,666,617 (GRCm39) |
S607C |
probably damaging |
Het |
| Irag1 |
G |
A |
7: 110,476,112 (GRCm39) |
T819M |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
| L3mbtl3 |
T |
C |
10: 26,168,645 (GRCm39) |
I595V |
unknown |
Het |
| Large2 |
T |
C |
2: 92,200,981 (GRCm39) |
D65G |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,009,881 (GRCm39) |
Y122H |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,569,714 (GRCm39) |
D1002E |
unknown |
Het |
| Mink1 |
C |
T |
11: 70,489,720 (GRCm39) |
T59I |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,092,507 (GRCm39) |
N2097D |
probably benign |
Het |
| Nbea |
C |
A |
3: 55,535,905 (GRCm39) |
C2893F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,490,257 (GRCm39) |
V490E |
probably damaging |
Het |
| Or2w1b |
G |
A |
13: 21,300,401 (GRCm39) |
E180K |
probably damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,620 (GRCm39) |
M83T |
probably damaging |
Het |
| Or4c123 |
G |
T |
2: 89,127,306 (GRCm39) |
H103N |
probably damaging |
Het |
| Or4f62 |
T |
C |
2: 111,986,701 (GRCm39) |
I135T |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
| Pdcl3 |
T |
C |
1: 39,027,152 (GRCm39) |
|
probably null |
Het |
| Pheta2 |
T |
A |
15: 82,227,917 (GRCm39) |
H145Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,897,031 (GRCm39) |
S602T |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,646 (GRCm39) |
K541E |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,898,992 (GRCm39) |
V990I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,430 (GRCm39) |
V828D |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,098,823 (GRCm39) |
Y712H |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,098,926 (GRCm39) |
S1477P |
probably benign |
Het |
| Psma5 |
A |
G |
3: 108,187,118 (GRCm39) |
K239R |
probably benign |
Het |
| Rhobtb1 |
G |
C |
10: 69,106,286 (GRCm39) |
A284P |
probably benign |
Het |
| Samsn1 |
G |
A |
16: 75,742,162 (GRCm39) |
|
noncoding transcript |
Het |
| Scel |
A |
G |
14: 103,809,478 (GRCm39) |
T273A |
probably benign |
Het |
| Slc22a5 |
T |
A |
11: 53,782,444 (GRCm39) |
|
probably benign |
Het |
| Slc25a37 |
A |
T |
14: 69,486,953 (GRCm39) |
M110K |
possibly damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,609 (GRCm39) |
M242L |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,246,341 (GRCm39) |
W904L |
probably benign |
Het |
| Ss18l1 |
G |
A |
2: 179,696,905 (GRCm39) |
V109I |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,991,663 (GRCm39) |
H245Y |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,360,342 (GRCm39) |
L244F |
probably damaging |
Het |
| Tmem107 |
T |
A |
11: 68,962,241 (GRCm39) |
V66E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,715,884 (GRCm39) |
V882A |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,781,733 (GRCm39) |
V340A |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,481 (GRCm39) |
E59G |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,983 (GRCm39) |
M299K |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,770,610 (GRCm39) |
Y2018H |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,818,436 (GRCm39) |
E620G |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,185,627 (GRCm39) |
H530R |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,581 (GRCm39) |
A10T |
possibly 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 |
|
|
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'- CCTGATGACAAGCCACTAGC -3'
(R):5'- TGGAGGCACCTATACAATCTCATCAG -3'
Sequencing Primer
(F):5'- ACTAGCACCAGGTACCACTG -3'
(R):5'- GTGACTCATGAGCCACAGTCTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation