Incidental Mutation 'R7841:Cald1'
| ID |
606292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
045895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7841 (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 C
at 34722696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 115
(F115L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000126181]
[ENSMUST00000142512]
[ENSMUST00000149009]
|
| AlphaFold |
E9QA15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031775
AA Change: F115L
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000079391
AA Change: F121L
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: F121L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
522 |
4.3e-260 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115021
AA Change: F115L
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115026
AA Change: F121L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: F121L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
524 |
4.9e-259 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115027
AA Change: F121L
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: F121L
| 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 benign
Transcript: ENSMUST00000136907
|
| SMART Domains |
Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142512
AA Change: F121L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: F121L
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149009
AA Change: F115L
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
C |
5: 103,802,806 (GRCm39) |
K16R |
possibly damaging |
Het |
| 2810408A11Rik |
A |
G |
11: 69,790,112 (GRCm39) |
F210L |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| B9d1 |
A |
G |
11: 61,397,192 (GRCm39) |
Y29C |
possibly damaging |
Het |
| Ccnd1 |
A |
T |
7: 144,491,718 (GRCm39) |
M107K |
probably damaging |
Het |
| Ccnh |
G |
A |
13: 85,337,712 (GRCm39) |
A20T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,126,369 (GRCm39) |
D181G |
probably benign |
Het |
| Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,561,692 (GRCm39) |
D262G |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,192 (GRCm39) |
Y1146C |
probably damaging |
Het |
| Cmtm1 |
G |
A |
8: 105,036,108 (GRCm39) |
R174C |
possibly damaging |
Het |
| Cobl |
G |
T |
11: 12,203,324 (GRCm39) |
P1126H |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,245,876 (GRCm39) |
M460K |
unknown |
Het |
| Cst11 |
G |
A |
2: 148,613,227 (GRCm39) |
R33W |
possibly damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,079,089 (GRCm39) |
V340E |
probably benign |
Het |
| Dbt |
A |
T |
3: 116,339,746 (GRCm39) |
Q378L |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,412,180 (GRCm39) |
V1312A |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,779 (GRCm39) |
M398T |
probably benign |
Het |
| Faxc |
A |
G |
4: 21,958,584 (GRCm39) |
H247R |
probably benign |
Het |
| Fbxl17 |
T |
C |
17: 63,794,820 (GRCm39) |
R421G |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,890,337 (GRCm39) |
D450E |
unknown |
Het |
| Fmn1 |
T |
C |
2: 113,359,810 (GRCm39) |
|
probably null |
Het |
| Foxs1 |
T |
A |
2: 152,774,907 (GRCm39) |
M49L |
possibly damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,634,766 (GRCm39) |
E270G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,874,695 (GRCm39) |
D1933G |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,157,887 (GRCm39) |
A572V |
possibly damaging |
Het |
| Ica1 |
T |
A |
6: 8,737,072 (GRCm39) |
D174V |
probably damaging |
Het |
| Igfbp6 |
A |
T |
15: 102,056,352 (GRCm39) |
Q137L |
possibly damaging |
Het |
| Il1r2 |
T |
C |
1: 40,144,628 (GRCm39) |
L105P |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 89,987,337 (GRCm39) |
C72S |
|
Het |
| Itgbl1 |
T |
C |
14: 124,209,645 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,699 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Kdsr |
T |
C |
1: 106,671,415 (GRCm39) |
E198G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,031,529 (GRCm39) |
T1510A |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,391,931 (GRCm39) |
Y1165N |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,384,267 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
G |
11: 66,989,518 (GRCm39) |
E1546G |
probably damaging |
Het |
| Nacad |
A |
T |
11: 6,551,031 (GRCm39) |
V720E |
probably benign |
Het |
| Napa |
A |
G |
7: 15,849,559 (GRCm39) |
D257G |
possibly damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,487,042 (GRCm39) |
V76A |
probably damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,716 (GRCm39) |
S68R |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,581,140 (GRCm39) |
S108N |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,362,175 (GRCm39) |
L990H |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,224,372 (GRCm39) |
R322G |
unknown |
Het |
| Or4a79 |
C |
A |
2: 89,552,309 (GRCm39) |
A49S |
probably benign |
Het |
| Or4q3 |
G |
T |
14: 50,583,285 (GRCm39) |
Q174K |
probably benign |
Het |
| Or52n2c |
T |
A |
7: 104,574,066 (GRCm39) |
I302F |
possibly damaging |
Het |
| Or8c14-ps1 |
T |
G |
9: 38,101,777 (GRCm39) |
M252R |
unknown |
Het |
| Or8c19-ps1 |
T |
A |
9: 38,220,817 (GRCm39) |
V242E |
unknown |
Het |
| Ovch2 |
G |
T |
7: 107,393,298 (GRCm39) |
Q192K |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,800,384 (GRCm39) |
D91E |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,251,032 (GRCm39) |
T444A |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,276 (GRCm39) |
K466E |
probably benign |
Het |
| Prr35 |
A |
T |
17: 26,167,458 (GRCm39) |
Y26* |
probably null |
Het |
| Ptgfrn |
A |
T |
3: 100,968,126 (GRCm39) |
I489N |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,438,744 (GRCm39) |
*341W |
probably null |
Het |
| Ret |
G |
A |
6: 118,132,321 (GRCm39) |
P1040S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Slc6a17 |
A |
T |
3: 107,384,214 (GRCm39) |
Y377N |
possibly damaging |
Het |
| Snrnp200 |
C |
A |
2: 127,078,754 (GRCm39) |
D1806E |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,094,419 (GRCm39) |
R1215H |
unknown |
Het |
| Tbc1d5 |
TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG |
TTGCTGCTG |
17: 51,106,950 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,913,176 (GRCm39) |
D85E |
probably damaging |
Het |
| Tram1l1 |
A |
T |
3: 124,115,353 (GRCm39) |
Q171L |
probably damaging |
Het |
| Tram1l1 |
G |
T |
3: 124,115,354 (GRCm39) |
Q171H |
probably damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,174,267 (GRCm39) |
H253R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,662,490 (GRCm39) |
I23V |
|
Het |
| Ubr5 |
T |
C |
15: 37,981,150 (GRCm39) |
N2376D |
|
Het |
| Ugt2b37 |
T |
C |
5: 87,398,489 (GRCm39) |
N316D |
probably benign |
Het |
| Usp31 |
A |
C |
7: 121,247,679 (GRCm39) |
S1255A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,276,535 (GRCm39) |
V334E |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,690,305 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
T |
A |
10: 130,333,095 (GRCm39) |
T52S |
probably benign |
Het |
| Vrk2 |
C |
A |
11: 26,421,457 (GRCm39) |
L500F |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,435,064 (GRCm39) |
I2110F |
unknown |
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 |
|
|
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'- CCAACAAGTTGTCTTTGATGTTCC -3'
(R):5'- ACCTGATTTTCGCCAAGGCTC -3'
Sequencing Primer
(F):5'- ATGTTCCTTCTGTCATGCAGTG -3'
(R):5'- GTCTTCAGCATCCTGATAGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation