Incidental Mutation 'R5872:Cald1'
| ID |
455243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
044079-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5872 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 34748043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 761
(K761*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000149009]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031775
AA Change: K547*
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: K547*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079391
AA Change: K527*
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: K527*
| 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 null
Transcript: ENSMUST00000115021
AA Change: K523*
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: K523*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115026
AA Change: K529*
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: K529*
| 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
AA Change: K761*
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: K761*
| 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 |
noncoding transcript
Transcript: ENSMUST00000132331
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000201956
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,309 (GRCm39) |
S1219P |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,538,489 (GRCm39) |
Y644H |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,007,902 (GRCm39) |
R1232S |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,463,975 (GRCm39) |
V70M |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,986,446 (GRCm39) |
I42V |
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,071,267 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
A |
T |
1: 172,071,975 (GRCm39) |
L432Q |
probably damaging |
Het |
| Bbs12 |
T |
A |
3: 37,374,598 (GRCm39) |
C349S |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,007 (GRCm39) |
V479A |
possibly damaging |
Het |
| Cd177 |
C |
T |
7: 24,451,688 (GRCm39) |
G443R |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,410 (GRCm39) |
D375G |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,268 (GRCm39) |
Y174H |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,943 (GRCm39) |
M382V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,531,926 (GRCm39) |
S782N |
unknown |
Het |
| Crtac1 |
C |
T |
19: 42,297,629 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,445,923 (GRCm39) |
D3683V |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,354 (GRCm39) |
L62P |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,867 (GRCm39) |
K208* |
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,278,680 (GRCm39) |
L394P |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,585,305 (GRCm39) |
E192G |
probably benign |
Het |
| Fads2 |
T |
C |
19: 10,059,997 (GRCm39) |
I226V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,161,208 (GRCm39) |
E3174G |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,881,826 (GRCm39) |
R91Q |
probably damaging |
Het |
| Hdhd5 |
G |
T |
6: 120,487,252 (GRCm39) |
D368E |
probably benign |
Het |
| Hk3 |
T |
A |
13: 55,158,617 (GRCm39) |
I528F |
probably damaging |
Het |
| Il10ra |
A |
C |
9: 45,166,951 (GRCm39) |
S533R |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,305,950 (GRCm39) |
K169N |
probably benign |
Het |
| Lrrc17 |
A |
G |
5: 21,780,264 (GRCm39) |
T413A |
probably benign |
Het |
| Mcm2 |
C |
T |
6: 88,861,053 (GRCm39) |
D882N |
probably benign |
Het |
| Met |
T |
C |
6: 17,562,197 (GRCm39) |
V1186A |
probably damaging |
Het |
| Msh5 |
C |
T |
17: 35,248,628 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,600,648 (GRCm39) |
I1326M |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,850,896 (GRCm38) |
I314V |
probably benign |
Het |
| Or10g1 |
A |
C |
14: 52,648,225 (GRCm39) |
F35V |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,412 (GRCm39) |
Y143N |
probably benign |
Het |
| Pim1 |
A |
G |
17: 29,712,720 (GRCm39) |
E211G |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,189 (GRCm39) |
Y90N |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,704,144 (GRCm39) |
D903E |
probably benign |
Het |
| Ptpn14 |
T |
C |
1: 189,583,229 (GRCm39) |
L692P |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,977,138 (GRCm39) |
C387R |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,418,369 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
A |
G |
5: 125,381,341 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,800 (GRCm39) |
D359V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,063,817 (GRCm39) |
S1297P |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,069,125 (GRCm39) |
D250G |
probably damaging |
Het |
| Slamf7 |
A |
G |
1: 171,466,635 (GRCm39) |
L190S |
probably damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,652,355 (GRCm39) |
P423L |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,697,137 (GRCm39) |
E217V |
probably damaging |
Het |
| Spocd1 |
A |
T |
4: 129,850,254 (GRCm39) |
N760I |
probably damaging |
Het |
| Tas2r136 |
G |
T |
6: 132,754,294 (GRCm39) |
P278T |
possibly damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,377,836 (GRCm39) |
Q180L |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,858,010 (GRCm39) |
T79S |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,965,105 (GRCm39) |
C430S |
probably benign |
Het |
| Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
| Trmt1l |
T |
G |
1: 151,316,594 (GRCm39) |
I32S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,152,641 (GRCm39) |
T2011A |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,569,652 (GRCm39) |
W1358* |
probably null |
Het |
| Usp31 |
T |
G |
7: 121,248,698 (GRCm39) |
H915P |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,377 (GRCm39) |
M79K |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,222 (GRCm39) |
I117T |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,869,497 (GRCm39) |
H2667R |
possibly damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,305,962 (GRCm39) |
T912M |
possibly damaging |
Het |
| Zfp709 |
G |
A |
8: 72,643,363 (GRCm39) |
C264Y |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,156,898 (GRCm39) |
I467V |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,347,281 (GRCm39) |
D214V |
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 |
|
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'- GGTCAAGGTCTGTTCACAGTC -3'
(R):5'- AACCTGCAGTGTCAATGGC -3'
Sequencing Primer
(F):5'- GGAACCAACTAGTGCTTCTTCC -3'
(R):5'- CAGTGTCAATGGCTTTGTAAATTGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation