Incidental Mutation 'R9158:Cracdl'
ID |
695485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracdl
|
Ensembl Gene |
ENSMUSG00000026090 |
Gene Name |
capping protein inhibiting regulator of actin like |
Synonyms |
2010300C02Rik |
MMRRC Submission |
068942-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9158 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37670442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 166
(M166K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
AlphaFold |
E9Q3M9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162875
AA Change: M166K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123803 Gene: ENSMUSG00000026090 AA Change: M166K
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
A |
8: 41,208,645 (GRCm39) |
C637Y |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,792,505 (GRCm39) |
T1249A |
possibly damaging |
Het |
Alkbh3 |
A |
G |
2: 93,835,082 (GRCm39) |
S88P |
probably damaging |
Het |
Ankrd17 |
C |
A |
5: 90,416,575 (GRCm39) |
A1086S |
probably damaging |
Het |
Ankzf1 |
T |
A |
1: 75,173,020 (GRCm39) |
V372E |
probably damaging |
Het |
Apbb1ip |
T |
C |
2: 22,764,951 (GRCm39) |
V544A |
probably benign |
Het |
Atp13a2 |
T |
C |
4: 140,724,112 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
A |
G |
5: 16,140,039 (GRCm39) |
T10A |
probably benign |
Het |
Cadps |
T |
C |
14: 12,546,356 (GRCm38) |
N500S |
probably benign |
Het |
Casp16 |
A |
G |
17: 23,769,948 (GRCm39) |
|
probably benign |
Het |
Cdh22 |
T |
A |
2: 165,012,627 (GRCm39) |
I153F |
probably damaging |
Het |
Clip2 |
T |
C |
5: 134,521,251 (GRCm39) |
E964G |
probably benign |
Het |
Cryga |
T |
C |
1: 65,142,198 (GRCm39) |
D65G |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,832,637 (GRCm39) |
Y357H |
probably damaging |
Het |
Eef2 |
C |
T |
10: 81,014,693 (GRCm39) |
|
probably benign |
Het |
Gja4 |
A |
G |
4: 127,206,466 (GRCm39) |
L99P |
probably damaging |
Het |
Glb1l3 |
A |
T |
9: 26,765,005 (GRCm39) |
Y135* |
probably null |
Het |
Gm5114 |
T |
G |
7: 39,060,486 (GRCm39) |
D121A |
probably damaging |
Het |
Gm6525 |
A |
G |
3: 84,082,255 (GRCm39) |
K59E |
probably benign |
Het |
Herc1 |
C |
T |
9: 66,376,400 (GRCm39) |
L3407F |
probably benign |
Het |
Hmgcr |
G |
A |
13: 96,792,170 (GRCm39) |
R589* |
probably null |
Het |
Iglv3 |
A |
C |
16: 19,060,012 (GRCm39) |
D105E |
probably damaging |
Het |
Il1r1 |
G |
A |
1: 40,332,391 (GRCm39) |
W60* |
probably null |
Het |
Il31ra |
C |
T |
13: 112,670,394 (GRCm39) |
W331* |
probably null |
Het |
Inca1 |
C |
T |
11: 70,581,376 (GRCm39) |
C16Y |
probably damaging |
Het |
Inpp4a |
A |
G |
1: 37,442,552 (GRCm39) |
T628A |
possibly damaging |
Het |
Kdm2a |
C |
G |
19: 4,374,715 (GRCm39) |
R805S |
possibly damaging |
Het |
Kel |
T |
A |
6: 41,664,905 (GRCm39) |
I620L |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,741,020 (GRCm39) |
G4638R |
unknown |
Het |
Lilrb4b |
T |
A |
10: 51,357,829 (GRCm39) |
N174K |
possibly damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Ltf |
T |
A |
9: 110,868,003 (GRCm39) |
V615E |
probably damaging |
Het |
Map7d1 |
G |
T |
4: 126,130,478 (GRCm39) |
Q443K |
possibly damaging |
Het |
Mapk9 |
A |
G |
11: 49,745,095 (GRCm39) |
D3G |
probably benign |
Het |
Nktr |
T |
G |
9: 121,582,154 (GRCm39) |
S1424A |
unknown |
Het |
Npas1 |
A |
G |
7: 16,195,333 (GRCm39) |
S332P |
possibly damaging |
Het |
Or13a25 |
T |
C |
7: 140,247,547 (GRCm39) |
S109P |
possibly damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,086 (GRCm39) |
Y295C |
probably damaging |
Het |
Or5ak4 |
A |
G |
2: 85,161,348 (GRCm39) |
I298T |
probably benign |
Het |
Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
Or8b12b |
C |
A |
9: 37,684,800 (GRCm39) |
P282T |
probably damaging |
Het |
Pcdh8 |
A |
G |
14: 80,005,182 (GRCm39) |
W948R |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,195,614 (GRCm39) |
E100G |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,836,466 (GRCm39) |
V246D |
unknown |
Het |
Pitpnb |
A |
T |
5: 111,530,876 (GRCm39) |
N223I |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,394,207 (GRCm39) |
R2065* |
probably null |
Het |
Prepl |
T |
C |
17: 85,383,379 (GRCm39) |
D355G |
possibly damaging |
Het |
Runx2 |
A |
G |
17: 45,046,508 (GRCm39) |
V5A |
probably benign |
Het |
Sema4g |
T |
A |
19: 44,986,846 (GRCm39) |
V433D |
possibly damaging |
Het |
Sema6a |
C |
T |
18: 47,431,330 (GRCm39) |
V123I |
probably damaging |
Het |
Senp6 |
A |
G |
9: 79,994,732 (GRCm39) |
K24E |
probably benign |
Het |
Slc22a8 |
T |
A |
19: 8,583,427 (GRCm39) |
S211T |
probably damaging |
Het |
Slc34a2 |
A |
G |
5: 53,221,217 (GRCm39) |
D221G |
possibly damaging |
Het |
Tmprss11g |
A |
T |
5: 86,637,166 (GRCm39) |
L323Q |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,687,988 (GRCm39) |
|
probably benign |
Het |
Trim65 |
G |
A |
11: 116,018,050 (GRCm39) |
T311I |
probably benign |
Het |
Tub |
T |
C |
7: 108,625,962 (GRCm39) |
F284L |
possibly damaging |
Het |
Ube2j1 |
G |
A |
4: 33,036,711 (GRCm39) |
V12I |
probably benign |
Het |
Vmn2r101 |
A |
T |
17: 19,809,161 (GRCm39) |
N97Y |
probably benign |
Het |
Vmn2r49 |
C |
A |
7: 9,722,835 (GRCm39) |
W146C |
probably damaging |
Het |
Zfp628 |
T |
C |
7: 4,922,153 (GRCm39) |
L125P |
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 |
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 |
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'- TGGCATCAGACTGACCACAC -3'
(R):5'- TCCTGAATGAATGAATCAGAGCAGG -3'
Sequencing Primer
(F):5'- TCAGACTGACCACACAACCG -3'
(R):5'- AGCAGGAAGATTTGTTGCTAGC -3'
|
Posted On |
2022-01-20 |