Incidental Mutation 'R7147:Cald1'
ID |
553868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cald1
|
Ensembl Gene |
ENSMUSG00000029761 |
Gene Name |
caldesmon 1 |
Synonyms |
C920027I18Rik, 4833423D12Rik |
MMRRC Submission |
045224-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7147 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
34575433-34752404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34723231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 105
(Q105L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031775]
[ENSMUST00000079391]
[ENSMUST00000115021]
[ENSMUST00000115026]
[ENSMUST00000115027]
[ENSMUST00000126181]
[ENSMUST00000142512]
[ENSMUST00000149009]
|
AlphaFold |
E9QA15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031775
|
SMART Domains |
Protein: ENSMUSP00000031775 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
542 |
5.7e-256 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079391
|
SMART Domains |
Protein: ENSMUSP00000078362 Gene: ENSMUSG00000029761
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 benign
Transcript: ENSMUST00000115021
|
SMART Domains |
Protein: ENSMUSP00000110673 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
518 |
7.5e-259 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115026
|
SMART Domains |
Protein: ENSMUSP00000110678 Gene: ENSMUSG00000029761
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: Q299L
|
SMART Domains |
Protein: ENSMUSP00000110679 Gene: ENSMUSG00000029761 AA Change: Q299L
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 |
|
SMART Domains |
Protein: ENSMUSP00000121213 Gene: ENSMUSG00000029761 AA Change: Q105L
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
50 |
354 |
4.6e-15 |
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: ENSMUST00000142512
|
SMART Domains |
Protein: ENSMUSP00000122926 Gene: ENSMUSG00000029761
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 |
probably benign
Transcript: ENSMUST00000149009
|
SMART Domains |
Protein: ENSMUSP00000138368 Gene: ENSMUSG00000029761
Domain | Start | End | E-Value | Type |
Pfam:Caldesmon
|
25 |
507 |
2e-247 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
C |
T |
14: 56,017,182 (GRCm39) |
G303D |
probably damaging |
Het |
Adgra3 |
C |
T |
5: 50,118,587 (GRCm39) |
G987D |
probably damaging |
Het |
Akap11 |
A |
G |
14: 78,748,905 (GRCm39) |
S1161P |
|
Het |
Ampd3 |
G |
A |
7: 110,404,059 (GRCm39) |
E528K |
probably damaging |
Het |
Arl8b |
G |
A |
6: 108,791,976 (GRCm39) |
R79Q |
probably damaging |
Het |
Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
Casd1 |
T |
C |
6: 4,624,187 (GRCm39) |
Y327H |
probably benign |
Het |
Chodl |
T |
A |
16: 78,743,629 (GRCm39) |
C239S |
probably damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,066,546 (GRCm39) |
H781L |
probably benign |
Het |
Dlg1 |
A |
T |
16: 31,610,672 (GRCm39) |
M318L |
probably benign |
Het |
Dlgap1 |
T |
C |
17: 70,969,753 (GRCm39) |
S520P |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,324,013 (GRCm39) |
I950V |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,985,755 (GRCm39) |
T1441S |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,849,654 (GRCm39) |
N1638K |
unknown |
Het |
Ect2 |
A |
T |
3: 27,204,239 (GRCm39) |
D23E |
probably benign |
Het |
Ephx1 |
T |
A |
1: 180,829,384 (GRCm39) |
T55S |
probably damaging |
Het |
F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
Fbxw27 |
A |
G |
9: 109,618,391 (GRCm39) |
|
probably null |
Het |
Fhl5 |
T |
A |
4: 25,213,777 (GRCm39) |
|
probably null |
Het |
Gm5145 |
G |
A |
17: 20,791,323 (GRCm39) |
E234K |
probably damaging |
Het |
Gpr39 |
G |
A |
1: 125,800,238 (GRCm39) |
D330N |
possibly damaging |
Het |
Greb1 |
C |
T |
12: 16,783,428 (GRCm39) |
R102H |
probably damaging |
Het |
H4c17 |
A |
G |
13: 21,996,159 (GRCm39) |
D69G |
probably damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,321,676 (GRCm39) |
K361R |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,629,400 (GRCm39) |
D245G |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,891,267 (GRCm39) |
V416A |
possibly damaging |
Het |
Kif21a |
A |
G |
15: 90,865,086 (GRCm39) |
S529P |
probably benign |
Het |
Limk1 |
A |
G |
5: 134,686,195 (GRCm39) |
M609T |
probably benign |
Het |
Lrrc75a |
G |
A |
11: 62,496,795 (GRCm39) |
P256S |
probably damaging |
Het |
Mcc |
T |
C |
18: 44,626,580 (GRCm39) |
R339G |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,065,495 (GRCm39) |
W371* |
probably null |
Het |
Mei4 |
T |
A |
9: 81,809,649 (GRCm39) |
L244Q |
probably damaging |
Het |
Mical2 |
C |
T |
7: 111,922,810 (GRCm39) |
P605L |
possibly damaging |
Het |
Mrgprf |
G |
T |
7: 144,862,128 (GRCm39) |
R230L |
possibly damaging |
Het |
Nlgn1 |
T |
A |
3: 26,187,509 (GRCm39) |
R125S |
probably benign |
Het |
Or52h7 |
A |
G |
7: 104,213,273 (GRCm39) |
|
probably benign |
Het |
Papola |
A |
T |
12: 105,774,897 (GRCm39) |
|
probably benign |
Het |
Pold2 |
T |
C |
11: 5,823,095 (GRCm39) |
D360G |
probably benign |
Het |
Prr12 |
T |
C |
7: 44,683,274 (GRCm39) |
R1797G |
unknown |
Het |
Psmg2 |
C |
T |
18: 67,786,338 (GRCm39) |
P233S |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,553,781 (GRCm39) |
W857R |
probably damaging |
Het |
Raet1e |
A |
T |
10: 22,057,179 (GRCm39) |
M168L |
probably benign |
Het |
Rhbdl2 |
A |
T |
4: 123,703,908 (GRCm39) |
Y61F |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,398,016 (GRCm39) |
N236S |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 110,046,268 (GRCm39) |
S310T |
probably benign |
Het |
Sdr42e2 |
A |
T |
7: 120,412,238 (GRCm39) |
R33S |
probably damaging |
Het |
Sh3d19 |
T |
A |
3: 86,011,584 (GRCm39) |
I390N |
possibly damaging |
Het |
Slco3a1 |
A |
G |
7: 74,154,042 (GRCm39) |
Y177H |
probably damaging |
Het |
Smo |
G |
A |
6: 29,758,448 (GRCm39) |
G531D |
possibly damaging |
Het |
Snx25 |
A |
C |
8: 46,558,233 (GRCm39) |
V258G |
probably damaging |
Het |
Spata31d1b |
T |
A |
13: 59,866,028 (GRCm39) |
S1059T |
probably benign |
Het |
Srgap2 |
C |
T |
1: 131,238,332 (GRCm39) |
C274Y |
|
Het |
Srrm1 |
A |
G |
4: 135,074,137 (GRCm39) |
I48T |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,199,340 (GRCm39) |
V3719E |
probably damaging |
Het |
Tcerg1 |
T |
A |
18: 42,683,128 (GRCm39) |
M616K |
probably benign |
Het |
Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,341,610 (GRCm39) |
V234D |
probably damaging |
Het |
Tom1 |
A |
G |
8: 75,783,895 (GRCm39) |
N293S |
probably damaging |
Het |
Trim13 |
A |
T |
14: 61,842,080 (GRCm39) |
K32N |
probably damaging |
Het |
Trim6 |
G |
A |
7: 103,874,777 (GRCm39) |
V5I |
probably benign |
Het |
Vps11 |
A |
T |
9: 44,266,379 (GRCm39) |
L436* |
probably null |
Het |
Vps50 |
C |
T |
6: 3,567,750 (GRCm39) |
Q549* |
probably null |
Het |
Vtcn1 |
T |
A |
3: 100,791,210 (GRCm39) |
F83I |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
probably benign |
Het |
Zfp758 |
A |
T |
17: 22,594,981 (GRCm39) |
Y489F |
possibly damaging |
Het |
Zfp804a |
T |
C |
2: 82,088,531 (GRCm39) |
Y787H |
probably benign |
Het |
Zfp9 |
C |
T |
6: 118,441,963 (GRCm39) |
C233Y |
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 |
|
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 |
|
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'- CAGGTCAGCGCAGAAGAGTC -3'
(R):5'- CTCATGAGTCACAGGCATCAC -3'
Sequencing Primer
(F):5'- TCAGCGCAGAAGAGTCCAAAATAG -3'
(R):5'- CACAGTAGGTGCACAGTGCTTAC -3'
|
Posted On |
2019-05-15 |