Incidental Mutation 'R3893:Cracdl'
| ID |
310020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracdl
|
| Ensembl Gene |
ENSMUSG00000026090 |
| Gene Name |
capping protein inhibiting regulator of actin like |
| Synonyms |
2010300C02Rik |
| MMRRC Submission |
040805-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3893 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37670539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 134
(M134L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
| AlphaFold |
E9Q3M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162875
AA Change: M134L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: M134L
| 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 |
|
| Meta Mutation Damage Score |
0.0765 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610303G11Rik |
A |
T |
9: 98,068,864 (GRCm39) |
|
noncoding transcript |
Het |
| Adam19 |
C |
T |
11: 46,019,665 (GRCm39) |
A455V |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,288,441 (GRCm39) |
D140N |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,707,117 (GRCm39) |
T271A |
probably damaging |
Het |
| Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Cadps |
A |
G |
14: 12,488,883 (GRCm38) |
|
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,631,245 (GRCm39) |
V61E |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,113 (GRCm39) |
R365G |
probably damaging |
Het |
| Cyria |
T |
C |
12: 12,412,526 (GRCm39) |
V232A |
probably benign |
Het |
| Dnajc18 |
A |
T |
18: 35,834,048 (GRCm39) |
|
probably null |
Het |
| Fmnl1 |
T |
A |
11: 103,087,583 (GRCm39) |
|
probably benign |
Het |
| Gca |
A |
G |
2: 62,509,564 (GRCm39) |
Y89C |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,013,922 (GRCm39) |
Y31C |
probably benign |
Het |
| Gem |
C |
T |
4: 11,705,889 (GRCm39) |
|
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,331,464 (GRCm39) |
Y281C |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,857,982 (GRCm39) |
T6A |
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,928,268 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,380,199 (GRCm39) |
Y1298H |
probably damaging |
Het |
| Micu3 |
C |
T |
8: 40,819,265 (GRCm39) |
L315F |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,791,084 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,382,362 (GRCm39) |
Y2596* |
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,754,705 (GRCm39) |
S250G |
probably benign |
Het |
| Prkcq |
A |
C |
2: 11,231,782 (GRCm39) |
E35A |
probably damaging |
Het |
| Prpf8 |
C |
A |
11: 75,391,083 (GRCm39) |
S1377R |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rsbn1l |
C |
T |
5: 21,110,838 (GRCm39) |
R500H |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,884,697 (GRCm39) |
E636K |
probably benign |
Het |
| Skint3 |
A |
G |
4: 112,111,115 (GRCm39) |
K80R |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,423,865 (GRCm39) |
A398T |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,453,505 (GRCm39) |
E2887* |
probably null |
Het |
| Tmc5 |
A |
C |
7: 118,244,592 (GRCm39) |
Y490S |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfsf8 |
G |
T |
4: 63,779,196 (GRCm39) |
T34K |
possibly damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Vkorc1l1 |
A |
T |
5: 130,011,112 (GRCm39) |
I109L |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,811 (GRCm39) |
T102A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,385,635 (GRCm39) |
D579G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,858,060 (GRCm39) |
Y697C |
probably damaging |
Het |
| Zfp955b |
T |
C |
17: 33,521,968 (GRCm39) |
I479T |
probably benign |
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 |
|
|
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'- CAATGCTTAGTGTCAGGAGTGG -3'
(R):5'- TCAGGCATGCAAGTTAGTCAC -3'
Sequencing Primer
(F):5'- TGTCAGGAGTGGATGGAAATATTC -3'
(R):5'- CAGGCATGCAAGTTAGTCACATTCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation