Incidental Mutation 'R5651:Cald1'
| ID |
441420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cald1
|
| Ensembl Gene |
ENSMUSG00000029761 |
| Gene Name |
caldesmon 1 |
| Synonyms |
C920027I18Rik, 4833423D12Rik |
| MMRRC Submission |
043297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5651 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34739255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 419
(N419K)
|
| 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: N445K
|
| SMART Domains |
Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: N445K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079391
AA Change: N425K
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: N425K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
Pfam:Caldesmon
|
31 |
522 |
4.3e-260 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115021
AA Change: N421K
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: N421K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115026
AA Change: N427K
|
| SMART Domains |
Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: N427K
| 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: N659K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: N659K
| 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: N419K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: N419K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201956
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
A |
11: 48,910,700 (GRCm39) |
H578Y |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,909,289 (GRCm39) |
D1161G |
probably damaging |
Het |
| Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,059,617 (GRCm39) |
V318D |
unknown |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Boc |
T |
A |
16: 44,341,558 (GRCm39) |
I16F |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,577,537 (GRCm39) |
T191S |
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,732,521 (GRCm39) |
G471D |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,255,364 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,449,156 (GRCm39) |
T66S |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,323,136 (GRCm39) |
D83E |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,257 (GRCm39) |
M474L |
possibly damaging |
Het |
| Hhla1 |
T |
A |
15: 65,813,663 (GRCm39) |
E223V |
probably damaging |
Het |
| Hnrnpa1 |
G |
C |
15: 103,148,955 (GRCm39) |
E5D |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,143 (GRCm39) |
V241E |
probably damaging |
Het |
| Ier5 |
T |
C |
1: 154,974,491 (GRCm39) |
E229G |
possibly damaging |
Het |
| Inka2 |
C |
A |
3: 105,623,748 (GRCm39) |
Q22K |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,331,910 (GRCm39) |
M276K |
possibly damaging |
Het |
| Mast1 |
G |
C |
8: 85,655,597 (GRCm39) |
Y182* |
probably null |
Het |
| Mia3 |
T |
A |
1: 183,139,998 (GRCm39) |
D239V |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,258,002 (GRCm39) |
D389E |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,355,016 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,520,101 (GRCm39) |
C739R |
probably null |
Het |
| Or13e8 |
C |
G |
4: 43,696,636 (GRCm39) |
C179S |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,784 (GRCm39) |
I282T |
probably benign |
Het |
| Or9e1 |
A |
T |
11: 58,732,317 (GRCm39) |
R126* |
probably null |
Het |
| Palld |
A |
T |
8: 61,991,822 (GRCm39) |
I510N |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,074,589 (GRCm39) |
E381G |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,623,200 (GRCm39) |
T618I |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,810,361 (GRCm39) |
E3631G |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,767,940 (GRCm39) |
T828A |
probably benign |
Het |
| Psmb5 |
C |
T |
14: 54,854,221 (GRCm39) |
A86T |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 156,984,951 (GRCm39) |
V907A |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,627,353 (GRCm39) |
T24M |
probably benign |
Het |
| Senp1 |
A |
G |
15: 97,974,498 (GRCm39) |
S105P |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,816,201 (GRCm39) |
D486G |
probably damaging |
Het |
| Slc49a4 |
G |
A |
16: 35,555,986 (GRCm39) |
A158V |
probably benign |
Het |
| Slfn5 |
A |
C |
11: 82,851,490 (GRCm39) |
N596H |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,689,526 (GRCm39) |
D229E |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,479,455 (GRCm39) |
K57E |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,343,212 (GRCm39) |
C1135Y |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,508 (GRCm39) |
L237P |
probably benign |
Het |
| Vcpip1 |
G |
A |
1: 9,818,065 (GRCm39) |
T106M |
probably damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,259,981 (GRCm39) |
I7S |
possibly damaging |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,279 (GRCm39) |
M224L |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,440,454 (GRCm39) |
D592E |
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 |
|
|
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 |
|
|
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'- TCCCCGAGTTAGGACTTTGC -3'
(R):5'- CAATCTGTTCAAAAGTCTCAGATGC -3'
Sequencing Primer
(F):5'- CGAGTTAGGACTTTGCTACACAACG -3'
(R):5'- TCTCAGATGCATATTTCTTATTGTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation