Incidental Mutation 'IGL02498:Cracdl'
ID |
295908 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02498
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37662926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 991
(T991A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
AlphaFold |
E9Q3M9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000160023
AA Change: T466A
|
SMART Domains |
Protein: ENSMUSP00000125015 Gene: ENSMUSG00000026090 AA Change: T466A
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 benign
Transcript: ENSMUST00000162875
AA Change: T991A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123803 Gene: ENSMUSG00000026090 AA Change: T991A
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,617,265 (GRCm39) |
|
probably null |
Het |
Abcg8 |
T |
C |
17: 84,990,693 (GRCm39) |
W12R |
probably benign |
Het |
Ablim1 |
A |
T |
19: 57,140,751 (GRCm39) |
C155* |
probably null |
Het |
Adam33 |
A |
G |
2: 130,895,157 (GRCm39) |
C658R |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,664,135 (GRCm39) |
H357R |
possibly damaging |
Het |
Adamts2 |
G |
T |
11: 50,668,023 (GRCm39) |
K528N |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,893,339 (GRCm39) |
P955S |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,770,815 (GRCm39) |
I365F |
probably damaging |
Het |
AW112010 |
T |
C |
19: 11,025,701 (GRCm39) |
|
noncoding transcript |
Het |
AY358078 |
T |
C |
14: 52,040,944 (GRCm39) |
S88P |
probably benign |
Het |
Cdc42bpg |
T |
C |
19: 6,372,823 (GRCm39) |
L1504S |
probably benign |
Het |
Dgkg |
T |
A |
16: 22,367,441 (GRCm39) |
H593L |
probably damaging |
Het |
Gm10463 |
T |
C |
5: 32,288,742 (GRCm39) |
|
probably benign |
Het |
Grm1 |
A |
T |
10: 10,595,723 (GRCm39) |
L635Q |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,109,244 (GRCm39) |
C160R |
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,142,821 (GRCm39) |
R252H |
probably damaging |
Het |
Litaf |
A |
G |
16: 10,784,423 (GRCm39) |
V29A |
possibly damaging |
Het |
Lmo7 |
G |
A |
14: 102,044,918 (GRCm39) |
V57I |
probably benign |
Het |
Loxl4 |
A |
T |
19: 42,593,412 (GRCm39) |
L253Q |
probably benign |
Het |
Mon2 |
C |
T |
10: 122,870,235 (GRCm39) |
V458I |
probably benign |
Het |
Ncstn |
G |
T |
1: 171,896,159 (GRCm39) |
F506L |
probably benign |
Het |
Nedd8 |
T |
A |
14: 55,901,273 (GRCm39) |
D21V |
probably damaging |
Het |
Oas1c |
T |
C |
5: 120,943,591 (GRCm39) |
T183A |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
Phf2 |
A |
G |
13: 48,958,715 (GRCm39) |
S936P |
unknown |
Het |
Pkd1 |
T |
C |
17: 24,804,753 (GRCm39) |
I3159T |
possibly damaging |
Het |
Prrt3 |
C |
A |
6: 113,474,788 (GRCm39) |
V145F |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,217,497 (GRCm39) |
V666E |
probably damaging |
Het |
Rapgef2 |
C |
T |
3: 78,974,060 (GRCm39) |
V1577M |
probably damaging |
Het |
Sesn3 |
T |
C |
9: 14,217,564 (GRCm39) |
|
probably benign |
Het |
Shoc2 |
T |
A |
19: 54,016,207 (GRCm39) |
L407* |
probably null |
Het |
Slc6a12 |
A |
G |
6: 121,338,029 (GRCm39) |
M435V |
probably benign |
Het |
Smarcc1 |
C |
T |
9: 110,020,002 (GRCm39) |
T623I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,289,517 (GRCm39) |
L245S |
probably damaging |
Het |
Son |
T |
A |
16: 91,453,713 (GRCm39) |
M820K |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
Stoml2 |
C |
A |
4: 43,031,045 (GRCm39) |
V37L |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,704,444 (GRCm39) |
H465Q |
probably benign |
Het |
Tmem164 |
T |
A |
X: 141,589,044 (GRCm39) |
V40D |
possibly damaging |
Het |
Trim37 |
A |
G |
11: 87,075,876 (GRCm39) |
E494G |
probably benign |
Het |
Triobp |
A |
G |
15: 78,845,243 (GRCm39) |
D195G |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,137,837 (GRCm39) |
V2427M |
probably damaging |
Het |
Usp27x |
T |
C |
X: 7,239,780 (GRCm39) |
|
probably benign |
Het |
Vmn2r113 |
T |
A |
17: 23,177,349 (GRCm39) |
V711D |
probably damaging |
Het |
Zfp940 |
T |
C |
7: 29,546,376 (GRCm39) |
T7A |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |