Incidental Mutation 'R6347:Cald1'
| ID |
520055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
044501-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34741981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 453
(K453Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000149009]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031775
AA Change: K479Q
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: K479Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079391
AA Change: K459Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: K459Q
| 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 damaging
Transcript: ENSMUST00000115021
AA Change: K455Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: K455Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115026
AA Change: K461Q
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: K461Q
| 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 damaging
Transcript: ENSMUST00000115027
AA Change: K693Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: K693Q
| 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: ENSMUST00000142716
|
| SMART Domains |
Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
1 |
274 |
2.7e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149009
AA Change: K453Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: K453Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201956
|
| Meta Mutation Damage Score |
0.3549 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
| Atf7 |
T |
A |
15: 102,454,914 (GRCm39) |
M285L |
possibly damaging |
Het |
| Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
| Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
| Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
| Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
| Fbxo31 |
C |
A |
8: 122,305,198 (GRCm39) |
E99D |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
| Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
| Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
| Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
| Nectin3 |
C |
T |
16: 46,278,487 (GRCm39) |
V303M |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,970 (GRCm39) |
A1066V |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
| Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,984,715 (GRCm39) |
P144L |
probably benign |
Het |
| Tmem219 |
T |
C |
7: 126,495,998 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
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 |
|
|
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'- CAACAGAAATGAGCCCCTTCTG -3'
(R):5'- GGCAAATCCAAGTGCAGATTATAC -3'
Sequencing Primer
(F):5'- CTTCTGACAGAAGTTCACACTGTG -3'
(R):5'- GCAATTCCTAACACACATGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation