Incidental Mutation 'R9529:Cald1'
| ID |
719384 |
| 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 # |
R9529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34662947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 3
(D3E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079391]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000142512]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000079391
AA Change: D3E
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: D3E
| 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: ENSMUST00000115026
AA Change: D3E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: D3E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
524 |
4.9e-259 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: D3E
| 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 damaging
Transcript: ENSMUST00000142512
AA Change: D3E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: D3E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
253 |
9.4e-97 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
C |
5: 113,331,682 (GRCm39) |
L844R |
possibly damaging |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,282,082 (GRCm39) |
Y237H |
probably benign |
Het |
| Abca8a |
A |
T |
11: 109,947,167 (GRCm39) |
Y1036* |
probably null |
Het |
| Abcg3 |
T |
C |
5: 105,121,973 (GRCm39) |
T135A |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,213,773 (GRCm39) |
A30V |
probably damaging |
Het |
| Ccdc89 |
T |
A |
7: 90,076,573 (GRCm39) |
L261Q |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,231 (GRCm39) |
D411G |
possibly damaging |
Het |
| Chil4 |
T |
A |
3: 106,118,656 (GRCm39) |
N87Y |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,328,640 (GRCm39) |
L308Q |
probably benign |
Het |
| Clptm1 |
T |
C |
7: 19,371,600 (GRCm39) |
I278V |
probably benign |
Het |
| Col5a3 |
A |
T |
9: 20,685,308 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
A |
4: 138,038,780 (GRCm39) |
D336E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,561,495 (GRCm39) |
Y2054C |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 28,197,723 (GRCm39) |
L1000H |
unknown |
Het |
| Fhip2b |
T |
C |
14: 70,822,579 (GRCm39) |
E714G |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,610,793 (GRCm39) |
V71A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,545,175 (GRCm39) |
Y2811H |
probably damaging |
Het |
| Hmox2 |
C |
T |
16: 4,582,818 (GRCm39) |
Q184* |
probably null |
Het |
| Igkv9-124 |
G |
T |
6: 67,919,280 (GRCm39) |
T44N |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,737,649 (GRCm39) |
T5149I |
unknown |
Het |
| Lamb2 |
T |
A |
9: 108,363,477 (GRCm39) |
D885E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,407,680 (GRCm39) |
S220P |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,287,453 (GRCm39) |
T211S |
possibly damaging |
Het |
| Mup13 |
A |
T |
4: 61,184,117 (GRCm39) |
C15S |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,979,556 (GRCm39) |
|
probably null |
Het |
| Nek10 |
A |
G |
14: 14,850,833 (GRCm38) |
I293V |
probably benign |
Het |
| Or10d3 |
G |
A |
9: 39,461,723 (GRCm39) |
T148I |
probably benign |
Het |
| Or2a52 |
T |
A |
6: 43,144,432 (GRCm39) |
S147T |
possibly damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Pdss2 |
G |
A |
10: 43,269,990 (GRCm39) |
V278I |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,431,518 (GRCm39) |
K748R |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,174,519 (GRCm39) |
|
probably null |
Het |
| Ranbp17 |
G |
A |
11: 33,424,826 (GRCm39) |
S510L |
unknown |
Het |
| Rp1 |
T |
A |
1: 4,416,447 (GRCm39) |
H1555L |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,799,535 (GRCm39) |
K389E |
probably benign |
Het |
| Ryk |
T |
C |
9: 102,746,518 (GRCm39) |
V151A |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,465,660 (GRCm39) |
N4838I |
possibly damaging |
Het |
| Sbno1 |
G |
A |
5: 124,517,413 (GRCm39) |
R1233* |
probably null |
Het |
| Scn2a |
A |
T |
2: 65,594,932 (GRCm39) |
K1927M |
probably damaging |
Het |
| Sec22c |
A |
T |
9: 121,513,860 (GRCm39) |
I259N |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,583 (GRCm39) |
D402V |
probably benign |
Het |
| Stk38 |
G |
A |
17: 29,207,210 (GRCm39) |
T111I |
probably damaging |
Het |
| Tmem237 |
G |
A |
1: 59,147,215 (GRCm39) |
T306I |
probably damaging |
Het |
| Tmprss11a |
T |
C |
5: 86,576,501 (GRCm39) |
K117E |
probably benign |
Het |
| Tmprss9 |
A |
T |
10: 80,730,640 (GRCm39) |
D722V |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,592,250 (GRCm39) |
Y575C |
probably damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,438 (GRCm39) |
M30V |
probably benign |
Het |
| Usp36 |
A |
T |
11: 118,159,461 (GRCm39) |
L661* |
probably null |
Het |
| Vmn2r13 |
G |
T |
5: 109,304,064 (GRCm39) |
T789N |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,400,018 (GRCm39) |
T550A |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,355,540 (GRCm39) |
S3434P |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,351,007 (GRCm39) |
V1571A |
probably damaging |
Het |
| Zfp438 |
A |
G |
18: 5,213,501 (GRCm39) |
S486P |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,660 (GRCm39) |
H643R |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,976,596 (GRCm39) |
K955R |
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 |
|
|
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 |
|
|
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'- TTGACCACTGGTTGCCTTAGC -3'
(R):5'- CTACAATGTTCAGCCTCCATAAATACG -3'
Sequencing Primer
(F):5'- ACTGGTTGCCTTAGCCGTATTCTAAG -3'
(R):5'- TTTAGCAGGAAAAATACTTACACCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation