Incidental Mutation 'R0928:Cracdl'
ID |
80582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracdl
|
Ensembl Gene |
ENSMUSG00000026090 |
Gene Name |
capping protein inhibiting regulator of actin like |
Synonyms |
2010300C02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0928 (G1)
|
Quality Score |
81 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37663663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 745
(D745G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
AlphaFold |
E9Q3M9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000160023
AA Change: D220G
|
SMART Domains |
Protein: ENSMUSP00000125015 Gene: ENSMUSG00000026090 AA Change: D220G
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 |
possibly damaging
Transcript: ENSMUST00000162875
AA Change: D745G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123803 Gene: ENSMUSG00000026090 AA Change: D745G
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: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,388,333 (GRCm39) |
D179V |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,207,849 (GRCm39) |
|
probably null |
Het |
Adad1 |
G |
A |
3: 37,130,889 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
C |
1: 152,632,028 (GRCm39) |
Y19H |
probably damaging |
Het |
Bco2 |
T |
A |
9: 50,457,231 (GRCm39) |
T104S |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
Ccdc168 |
C |
A |
1: 44,096,388 (GRCm39) |
S1570I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,875,988 (GRCm39) |
E184G |
probably damaging |
Het |
Cfap70 |
T |
G |
14: 20,493,987 (GRCm39) |
K97N |
probably damaging |
Het |
Daam2 |
T |
C |
17: 49,795,255 (GRCm39) |
I313V |
probably benign |
Het |
Dach1 |
T |
C |
14: 98,153,268 (GRCm39) |
S467G |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,297 (GRCm39) |
S2122P |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,629,274 (GRCm39) |
D1427V |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,602,566 (GRCm39) |
F97L |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,306 (GRCm39) |
|
probably null |
Het |
En2 |
A |
T |
5: 28,375,329 (GRCm39) |
K291* |
probably null |
Het |
Eps15 |
T |
C |
4: 109,170,160 (GRCm39) |
V154A |
possibly damaging |
Het |
Etnk1 |
A |
G |
6: 143,130,429 (GRCm39) |
I183V |
probably benign |
Het |
Fcrlb |
A |
T |
1: 170,735,509 (GRCm39) |
V255D |
possibly damaging |
Het |
Fry |
A |
T |
5: 150,360,549 (GRCm39) |
E52V |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,947,671 (GRCm39) |
|
probably null |
Het |
Gm57858 |
A |
C |
3: 36,079,515 (GRCm39) |
N258K |
possibly damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,981,777 (GRCm39) |
Y152C |
probably damaging |
Het |
Hao1 |
C |
A |
2: 134,347,536 (GRCm39) |
L256F |
possibly damaging |
Het |
Helz |
T |
A |
11: 107,517,519 (GRCm39) |
I685K |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Izumo2 |
A |
T |
7: 44,364,847 (GRCm39) |
I171F |
possibly damaging |
Het |
Krt87 |
C |
A |
15: 101,389,161 (GRCm39) |
C57F |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,845,849 (GRCm39) |
H400R |
probably benign |
Het |
Megf6 |
T |
A |
4: 154,261,504 (GRCm39) |
V43E |
probably damaging |
Het |
Mmut |
T |
C |
17: 41,248,174 (GRCm39) |
I67T |
probably benign |
Het |
Ninl |
A |
T |
2: 150,805,395 (GRCm39) |
V396E |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,921,467 (GRCm39) |
V844E |
probably benign |
Het |
Or2b6 |
C |
T |
13: 21,823,126 (GRCm39) |
C189Y |
probably damaging |
Het |
P2rx3 |
A |
T |
2: 84,865,642 (GRCm39) |
M1K |
probably null |
Het |
Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
Ppp3r2 |
C |
A |
4: 49,681,439 (GRCm39) |
|
probably null |
Het |
Prmt6 |
C |
T |
3: 110,157,998 (GRCm39) |
G97D |
probably damaging |
Het |
Prmt9 |
T |
C |
8: 78,307,805 (GRCm39) |
V823A |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,261,711 (GRCm39) |
L142W |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,798 (GRCm39) |
D79E |
possibly damaging |
Het |
Slc17a8 |
T |
A |
10: 89,434,545 (GRCm39) |
H194L |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,032,573 (GRCm39) |
I293F |
possibly damaging |
Het |
Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,873,914 (GRCm39) |
D528G |
probably damaging |
Het |
Tpbpb |
C |
T |
13: 61,049,989 (GRCm39) |
V47I |
probably benign |
Het |
Ttn |
G |
T |
2: 76,737,876 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
G |
9: 48,942,191 (GRCm39) |
S341A |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,639,303 (GRCm39) |
Y345H |
probably damaging |
Het |
Wdr11 |
C |
A |
7: 129,208,377 (GRCm39) |
D377E |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,991,775 (GRCm39) |
|
probably null |
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 |
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 |
R8071:Cracdl
|
UTSW |
1 |
37,663,010 (GRCm39) |
nonsense |
probably null |
|
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'- AGTTTTGAGGGTCACCACCCATTG -3'
(R):5'- TCATGGAGCCTCCTAATAGGGACAC -3'
Sequencing Primer
(F):5'- TTTGGCAGCACCTGAAGGTC -3'
(R):5'- TTGGAGACACCTTCAGATACAG -3'
|
Posted On |
2013-11-07 |