Incidental Mutation 'R8205:Cracdl'
| ID |
635846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracdl
|
| Ensembl Gene |
ENSMUSG00000026090 |
| Gene Name |
capping protein inhibiting regulator of actin like |
| Synonyms |
2010300C02Rik |
| MMRRC Submission |
067628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8205 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37664047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 617
(D617G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
| AlphaFold |
E9Q3M9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160023
AA Change: D92G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: D92G
| 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: D617G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: D617G
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,278,080 (GRCm39) |
V157A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,650 (GRCm39) |
*204W |
probably null |
Het |
| Add2 |
A |
G |
6: 86,063,899 (GRCm39) |
E66G |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,192,175 (GRCm39) |
T114A |
possibly damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,678,070 (GRCm39) |
I247N |
probably damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,331,009 (GRCm39) |
M166K |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,243 (GRCm39) |
F388L |
probably damaging |
Het |
| Cap2 |
G |
A |
13: 46,768,739 (GRCm39) |
V182M |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,732,918 (GRCm39) |
V1100E |
unknown |
Het |
| Crisp2 |
T |
C |
17: 41,095,969 (GRCm39) |
E63G |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,253,685 (GRCm39) |
W2304G |
probably damaging |
Het |
| Eif2a |
A |
C |
3: 58,456,156 (GRCm39) |
N385T |
probably damaging |
Het |
| Eif4ebp2 |
A |
T |
10: 61,270,704 (GRCm39) |
H108Q |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,823 (GRCm39) |
D142G |
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,846 (GRCm39) |
H23L |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,768,080 (GRCm39) |
E229G |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,213 (GRCm39) |
D775G |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,430,928 (GRCm39) |
Y1008H |
probably benign |
Het |
| Heatr5a |
T |
A |
12: 52,005,792 (GRCm39) |
N61I |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,319,270 (GRCm39) |
H4391L |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,450 (GRCm39) |
E182G |
|
Het |
| Mbtps1 |
A |
G |
8: 120,247,077 (GRCm39) |
S789P |
probably damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,159 (GRCm39) |
S412P |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,542 (GRCm39) |
V318I |
possibly damaging |
Het |
| Mup2 |
T |
A |
4: 60,137,659 (GRCm39) |
D128V |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,254,461 (GRCm39) |
C418Y |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,150,219 (GRCm39) |
S609G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,898,697 (GRCm39) |
Y6554F |
unknown |
Het |
| Odf2l |
A |
G |
3: 144,856,495 (GRCm39) |
|
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,892 (GRCm39) |
C141S |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,757,180 (GRCm39) |
V245A |
probably damaging |
Het |
| Or4c104 |
A |
T |
2: 88,587,016 (GRCm39) |
M1K |
probably null |
Het |
| Plod2 |
G |
T |
9: 92,424,371 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,541,418 (GRCm39) |
V30A |
probably benign |
Het |
| Pxdn |
T |
G |
12: 30,056,566 (GRCm39) |
L1259R |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,714 (GRCm39) |
S435P |
probably damaging |
Het |
| Sacm1l |
G |
A |
9: 123,415,724 (GRCm39) |
|
probably null |
Het |
| Scgb2b26 |
T |
C |
7: 33,643,833 (GRCm39) |
T36A |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,865,508 (GRCm39) |
N332S |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,851,544 (GRCm39) |
F614L |
probably benign |
Het |
| Smad7 |
C |
A |
18: 75,527,119 (GRCm39) |
Q322K |
probably damaging |
Het |
| Smap1 |
T |
C |
1: 23,888,507 (GRCm39) |
T253A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,441,138 (GRCm39) |
R26L |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,026,795 (GRCm39) |
I253F |
possibly damaging |
Het |
| Tacc1 |
G |
A |
8: 25,672,803 (GRCm39) |
H142Y |
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,380,138 (GRCm39) |
F206S |
probably benign |
Het |
| Tmem117 |
G |
A |
15: 94,992,679 (GRCm39) |
M446I |
probably benign |
Het |
| Trav7-6 |
G |
A |
14: 53,954,550 (GRCm39) |
D47N |
probably benign |
Het |
| Trim2 |
C |
A |
3: 84,100,646 (GRCm39) |
A162S |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,596 (GRCm39) |
I1011V |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,425 (GRCm39) |
V809A |
probably damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,071 (GRCm39) |
T418S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,356,919 (GRCm39) |
D391E |
possibly damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,635 (GRCm39) |
S266F |
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 |
|
|
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'- GGACACTTTGGTCCTGTCTC -3'
(R):5'- AGAGAGACATGTCACCTCCC -3'
Sequencing Primer
(F):5'- CTCTGTATCTGAAGGTGTCTCCAAG -3'
(R):5'- GATGTGGCACCTCCCAAGAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation