Incidental Mutation 'R8071:Cracdl'
| ID |
628885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracdl
|
| Ensembl Gene |
ENSMUSG00000026090 |
| Gene Name |
capping protein inhibiting regulator of actin like |
| Synonyms |
2010300C02Rik |
| MMRRC Submission |
067506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 37663010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 963
(E963*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
| AlphaFold |
E9Q3M9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000160023
AA Change: E438*
|
| SMART Domains |
Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: E438*
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
2 |
65 |
4.52e-24 |
PROSPERO |
|
internal_repeat_1
|
65 |
128 |
4.52e-24 |
PROSPERO |
|
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162875
AA Change: E963*
|
| SMART Domains |
Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: E963*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
43 |
N/A |
INTRINSIC |
|
Pfam:DUF4592
|
130 |
243 |
1.8e-33 |
PFAM |
|
low complexity region
|
347 |
366 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
387 |
461 |
2.31e-5 |
PROSPERO |
|
internal_repeat_3
|
404 |
474 |
3.67e-5 |
PROSPERO |
|
internal_repeat_1
|
411 |
526 |
3.02e-34 |
PROSPERO |
|
internal_repeat_2
|
485 |
559 |
2.31e-5 |
PROSPERO |
|
internal_repeat_1
|
537 |
652 |
3.02e-34 |
PROSPERO |
|
internal_repeat_3
|
570 |
698 |
3.67e-5 |
PROSPERO |
|
low complexity region
|
705 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
989 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
T |
C |
5: 115,251,226 (GRCm39) |
E86G |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,448,728 (GRCm39) |
T217A |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,621,702 (GRCm39) |
S300P |
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,346,647 (GRCm39) |
L58P |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,389,902 (GRCm39) |
T24A |
probably benign |
Het |
| Ccndbp1 |
C |
A |
2: 120,845,046 (GRCm39) |
T321K |
unknown |
Het |
| Cd200r3 |
G |
A |
16: 44,774,503 (GRCm39) |
C172Y |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,187,132 (GRCm39) |
H9L |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,674 (GRCm39) |
S603C |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,286,239 (GRCm39) |
R448H |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,287,331 (GRCm39) |
Y1022F |
|
Het |
| Ctns |
T |
C |
11: 73,075,760 (GRCm39) |
Y363C |
probably damaging |
Het |
| D630044L22Rik |
A |
G |
17: 26,179,118 (GRCm39) |
T15A |
possibly damaging |
Het |
| Dhx38 |
A |
C |
8: 110,285,333 (GRCm39) |
I444M |
probably benign |
Het |
| Dnah14 |
A |
T |
1: 181,443,459 (GRCm39) |
I450F |
possibly damaging |
Het |
| Dpf1 |
T |
C |
7: 29,013,566 (GRCm39) |
F245L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,032,898 (GRCm39) |
V269A |
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,126,653 (GRCm39) |
V530L |
possibly damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,922,860 (GRCm39) |
N41S |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,435,470 (GRCm39) |
I142M |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,637,868 (GRCm39) |
M144V |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,457,445 (GRCm39) |
D2381V |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,362 (GRCm39) |
D778V |
unknown |
Het |
| Galnt3 |
A |
G |
2: 65,921,555 (GRCm39) |
I492T |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,155 (GRCm39) |
M1261T |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,695 (GRCm39) |
F126S |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,782,686 (GRCm39) |
L293S |
probably damaging |
Het |
| Ino80c |
G |
A |
18: 24,239,707 (GRCm39) |
T200I |
unknown |
Het |
| Jag1 |
T |
A |
2: 136,943,717 (GRCm39) |
M160L |
probably benign |
Het |
| Kcnj12 |
C |
A |
11: 60,960,825 (GRCm39) |
H374Q |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,816,902 (GRCm39) |
I433M |
probably benign |
Het |
| Lyzl4 |
C |
T |
9: 121,407,160 (GRCm39) |
W123* |
probably null |
Het |
| Map2k4 |
A |
T |
11: 65,597,827 (GRCm39) |
C264S |
|
Het |
| Mmrn1 |
C |
T |
6: 60,921,508 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
C |
T |
6: 121,850,631 (GRCm39) |
T709I |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,781,931 (GRCm39) |
W1706R |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,869 (GRCm39) |
E531G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Pcdhb11 |
A |
C |
18: 37,555,422 (GRCm39) |
I251L |
probably benign |
Het |
| Per3 |
A |
G |
4: 151,113,270 (GRCm39) |
S353P |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,213,750 (GRCm39) |
E1738G |
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,508 (GRCm39) |
D329G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,217,267 (GRCm39) |
P863Q |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,217,268 (GRCm39) |
P863T |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,896 (GRCm39) |
K1125E |
possibly damaging |
Het |
| Rapgef2 |
T |
G |
3: 79,000,343 (GRCm39) |
T351P |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,840,617 (GRCm39) |
Y923C |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,028,727 (GRCm39) |
V717A |
probably benign |
Het |
| Rims1 |
C |
T |
1: 22,358,760 (GRCm39) |
W182* |
probably null |
Het |
| Rnmt |
A |
G |
18: 68,440,723 (GRCm39) |
K129E |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Scamp5 |
T |
C |
9: 57,350,969 (GRCm39) |
Y231C |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,244,921 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
T |
17: 35,068,975 (GRCm39) |
V8D |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,028,234 (GRCm39) |
F510S |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,190,922 (GRCm39) |
Y599C |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,987,111 (GRCm39) |
N98S |
probably damaging |
Het |
| Stat3 |
T |
C |
11: 100,784,807 (GRCm39) |
N553S |
probably benign |
Het |
| Sult6b2 |
A |
T |
6: 142,735,868 (GRCm39) |
L242Q |
probably damaging |
Het |
| Tacc3 |
C |
T |
5: 33,821,169 (GRCm39) |
R98W |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,595 (GRCm39) |
R112H |
|
Het |
| Ubr3 |
T |
A |
2: 69,819,220 (GRCm39) |
S1337T |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,713 (GRCm39) |
C808* |
probably null |
Het |
| Wnt16 |
G |
A |
6: 22,288,997 (GRCm39) |
A105T |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,198,560 (GRCm39) |
S50L |
probably damaging |
Het |
|
| Other mutations in Cracdl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01376:Cracdl
|
APN |
1 |
37,667,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01413:Cracdl
|
APN |
1 |
37,651,387 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01812:Cracdl
|
APN |
1 |
37,664,446 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02183:Cracdl
|
APN |
1 |
37,664,459 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02498:Cracdl
|
APN |
1 |
37,662,926 (GRCm39) |
missense |
probably benign |
|
|
IGL02713:Cracdl
|
APN |
1 |
37,663,218 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02736:Cracdl
|
APN |
1 |
37,676,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Cracdl
|
UTSW |
1 |
37,664,117 (GRCm39) |
nonsense |
probably null |
|
|
FR4449:Cracdl
|
UTSW |
1 |
37,664,116 (GRCm39) |
missense |
probably benign |
0.40 |
|
FR4548:Cracdl
|
UTSW |
1 |
37,664,183 (GRCm39) |
missense |
probably damaging |
0.96 |
|
FR4548:Cracdl
|
UTSW |
1 |
37,664,116 (GRCm39) |
missense |
probably benign |
0.40 |
|
FR4548:Cracdl
|
UTSW |
1 |
37,664,117 (GRCm39) |
nonsense |
probably null |
|
|
FR4737:Cracdl
|
UTSW |
1 |
37,664,117 (GRCm39) |
nonsense |
probably null |
|
|
FR4737:Cracdl
|
UTSW |
1 |
37,664,116 (GRCm39) |
missense |
probably benign |
0.40 |
|
FR4976:Cracdl
|
UTSW |
1 |
37,664,183 (GRCm39) |
missense |
probably damaging |
0.96 |
|
FR4976:Cracdl
|
UTSW |
1 |
37,664,116 (GRCm39) |
missense |
probably benign |
0.40 |
|
FR4976:Cracdl
|
UTSW |
1 |
37,664,117 (GRCm39) |
nonsense |
probably null |
|
|
R0022:Cracdl
|
UTSW |
1 |
37,667,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Cracdl
|
UTSW |
1 |
37,667,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Cracdl
|
UTSW |
1 |
37,663,337 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0153:Cracdl
|
UTSW |
1 |
37,663,720 (GRCm39) |
missense |
probably benign |
|
|
R0523:Cracdl
|
UTSW |
1 |
37,683,710 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R0699:Cracdl
|
UTSW |
1 |
37,651,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0928:Cracdl
|
UTSW |
1 |
37,663,663 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1457:Cracdl
|
UTSW |
1 |
37,665,093 (GRCm39) |
nonsense |
probably null |
|
|
R1759:Cracdl
|
UTSW |
1 |
37,664,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1888:Cracdl
|
UTSW |
1 |
37,663,364 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1888:Cracdl
|
UTSW |
1 |
37,663,364 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2289:Cracdl
|
UTSW |
1 |
37,651,342 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2421:Cracdl
|
UTSW |
1 |
37,652,556 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2422:Cracdl
|
UTSW |
1 |
37,652,556 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2509:Cracdl
|
UTSW |
1 |
37,664,381 (GRCm39) |
missense |
probably benign |
|
|
R2510:Cracdl
|
UTSW |
1 |
37,664,381 (GRCm39) |
missense |
probably benign |
|
|
R2511:Cracdl
|
UTSW |
1 |
37,664,381 (GRCm39) |
missense |
probably benign |
|
|
R3893:Cracdl
|
UTSW |
1 |
37,670,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4351:Cracdl
|
UTSW |
1 |
37,663,993 (GRCm39) |
missense |
probably benign |
|
|
R4454:Cracdl
|
UTSW |
1 |
37,663,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Cracdl
|
UTSW |
1 |
37,670,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Cracdl
|
UTSW |
1 |
37,664,046 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5599:Cracdl
|
UTSW |
1 |
37,652,424 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5920:Cracdl
|
UTSW |
1 |
37,677,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:Cracdl
|
UTSW |
1 |
37,663,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6106:Cracdl
|
UTSW |
1 |
37,652,493 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6794:Cracdl
|
UTSW |
1 |
37,676,936 (GRCm39) |
splice site |
probably null |
|
|
R6828:Cracdl
|
UTSW |
1 |
37,663,898 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6930:Cracdl
|
UTSW |
1 |
37,664,026 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7044:Cracdl
|
UTSW |
1 |
37,651,361 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7069:Cracdl
|
UTSW |
1 |
37,670,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Cracdl
|
UTSW |
1 |
37,651,352 (GRCm39) |
nonsense |
probably null |
|
|
R7296:Cracdl
|
UTSW |
1 |
37,653,699 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7698:Cracdl
|
UTSW |
1 |
37,664,452 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7714:Cracdl
|
UTSW |
1 |
37,663,858 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8205:Cracdl
|
UTSW |
1 |
37,664,047 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8443:Cracdl
|
UTSW |
1 |
37,652,537 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8720:Cracdl
|
UTSW |
1 |
37,652,522 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8917:Cracdl
|
UTSW |
1 |
37,676,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9056:Cracdl
|
UTSW |
1 |
37,663,553 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9158:Cracdl
|
UTSW |
1 |
37,670,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9290:Cracdl
|
UTSW |
1 |
37,663,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9483:Cracdl
|
UTSW |
1 |
37,670,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Cracdl
|
UTSW |
1 |
37,663,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0025:Cracdl
|
UTSW |
1 |
37,664,026 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCAGCTCCCTGATTGGAC -3'
(R):5'- CTCAAAACTCAGGGGATGTGG -3'
Sequencing Primer
(F):5'- AGCTCCCTGATTGGACAATTTC -3'
(R):5'- AAGCTGAGCCATGTGCCTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation