Incidental Mutation 'R6828:Cracdl'
| ID |
534231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracdl
|
| Ensembl Gene |
ENSMUSG00000026090 |
| Gene Name |
capping protein inhibiting regulator of actin like |
| Synonyms |
2010300C02Rik |
| MMRRC Submission |
045020-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37663898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 667
(T667A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
| AlphaFold |
E9Q3M9 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: T142A
| 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: T667A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: T667A
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,545,389 (GRCm39) |
M349K |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,606 (GRCm39) |
E472G |
probably damaging |
Het |
| Ap2s1 |
T |
C |
7: 16,482,626 (GRCm39) |
Y94H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,964,237 (GRCm39) |
F530L |
probably damaging |
Het |
| Aplnr |
G |
A |
2: 84,970,103 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
G |
9: 57,717,446 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
C |
3: 88,983,420 (GRCm39) |
D2874A |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,199,172 (GRCm39) |
R277S |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 33,919,953 (GRCm39) |
F105L |
possibly damaging |
Het |
| Ccar1 |
C |
A |
10: 62,600,209 (GRCm39) |
W574L |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,311,100 (GRCm39) |
F207L |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,315,290 (GRCm39) |
R111G |
probably damaging |
Het |
| Clk3 |
G |
A |
9: 57,668,132 (GRCm39) |
T263I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,272,607 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,709,748 (GRCm39) |
G604D |
unknown |
Het |
| Crb2 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
2: 37,666,421 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,405,335 (GRCm39) |
V369D |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,895,244 (GRCm39) |
I1262T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Fam170b |
A |
G |
14: 32,557,915 (GRCm39) |
D250G |
probably damaging |
Het |
| Foxs1 |
G |
A |
2: 152,775,048 (GRCm39) |
Q2* |
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,275,383 (GRCm39) |
V512A |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,389,911 (GRCm39) |
|
probably null |
Het |
| Gria1 |
A |
G |
11: 57,180,288 (GRCm39) |
Y677C |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,029,979 (GRCm39) |
I343T |
probably benign |
Het |
| Igkv1-132 |
T |
C |
6: 67,736,697 (GRCm39) |
V5A |
probably benign |
Het |
| Ikzf5 |
A |
T |
7: 130,993,401 (GRCm39) |
C256S |
probably damaging |
Het |
| Itk |
G |
A |
11: 46,232,045 (GRCm39) |
H297Y |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,017,756 (GRCm39) |
E879G |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,529,123 (GRCm39) |
V127A |
probably damaging |
Het |
| Man2b1 |
C |
A |
8: 85,813,548 (GRCm39) |
P247T |
possibly damaging |
Het |
| Meak7 |
G |
A |
8: 120,499,306 (GRCm39) |
T62I |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,473,967 (GRCm39) |
K122E |
probably benign |
Het |
| Npr1 |
C |
A |
3: 90,372,120 (GRCm39) |
V231L |
probably benign |
Het |
| Nsd2 |
C |
T |
5: 34,050,912 (GRCm39) |
A1263V |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,258,973 (GRCm39) |
D374G |
probably damaging |
Het |
| Optc |
A |
T |
1: 133,825,605 (GRCm39) |
I307N |
probably damaging |
Het |
| Or5p80 |
A |
C |
7: 108,229,500 (GRCm39) |
Q100H |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,863 (GRCm39) |
S16T |
probably damaging |
Het |
| Pecr |
C |
A |
1: 72,306,616 (GRCm39) |
E222* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,423,987 (GRCm39) |
N520S |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,355,653 (GRCm39) |
N19S |
probably benign |
Het |
| Rock2 |
G |
A |
12: 16,992,960 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
G |
A |
11: 75,205,697 (GRCm39) |
T220I |
probably damaging |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,038,457 (GRCm39) |
H397Y |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,966,632 (GRCm39) |
I185T |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,295,230 (GRCm39) |
V300E |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,047 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,843,724 (GRCm39) |
K1379R |
possibly damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,894 (GRCm39) |
I543V |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,447 (GRCm39) |
E334G |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,688 (GRCm39) |
Y325C |
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 |
|
|
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'- TGACCAAGGCCTTGTGCTTC -3'
(R):5'- AGAGACATGTCACCTCCCGAAG -3'
Sequencing Primer
(F):5'- CTTCAGGCAGCTCTTGGGTAC -3'
(R):5'- GATGTGGCACCTCCCAAGAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation