Incidental Mutation 'R4454:Cracdl'
| ID |
329068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracdl
|
| Ensembl Gene |
ENSMUSG00000026090 |
| Gene Name |
capping protein inhibiting regulator of actin like |
| Synonyms |
2010300C02Rik |
| MMRRC Submission |
041714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37663834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 163
(E163G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
| AlphaFold |
E9Q3M9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160023
AA Change: E163G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: E163G
| 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: E688G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: E688G
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
A |
2: 126,889,061 (GRCm39) |
F509I |
probably damaging |
Het |
| Asmt |
A |
T |
X: 169,106,456 (GRCm39) |
M19L |
probably benign |
Het |
| Atf6 |
C |
T |
1: 170,621,608 (GRCm39) |
R471Q |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Baiap3 |
T |
A |
17: 25,468,510 (GRCm39) |
D250V |
probably damaging |
Het |
| C2cd4d |
T |
A |
3: 94,271,054 (GRCm39) |
F107I |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cldn6 |
T |
C |
17: 23,900,060 (GRCm39) |
|
probably null |
Het |
| Cpa5 |
A |
G |
6: 30,626,323 (GRCm39) |
N228S |
possibly damaging |
Het |
| Crocc |
T |
C |
4: 140,747,716 (GRCm39) |
S1478G |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 15,995,011 (GRCm39) |
C2675S |
probably damaging |
Het |
| Cthrc1 |
C |
A |
15: 38,940,408 (GRCm39) |
Q4K |
probably benign |
Het |
| Ddo |
A |
T |
10: 40,523,543 (GRCm39) |
I178F |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,026,399 (GRCm39) |
T1836A |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,215 (GRCm39) |
Q107P |
probably damaging |
Het |
| Dusp26 |
A |
G |
8: 31,584,172 (GRCm39) |
N93S |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,304,303 (GRCm39) |
I501V |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,966,167 (GRCm39) |
S642F |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gm12034 |
T |
A |
11: 20,396,476 (GRCm39) |
|
noncoding transcript |
Het |
| Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
| Mbd3 |
A |
T |
10: 80,229,817 (GRCm39) |
L164H |
probably damaging |
Het |
| Med4 |
A |
G |
14: 73,755,502 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nav2 |
A |
T |
7: 49,198,292 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
T |
C |
14: 50,377,953 (GRCm39) |
I48V |
probably benign |
Het |
| Or8b1b |
C |
A |
9: 38,375,938 (GRCm39) |
F200L |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,140,426 (GRCm39) |
G685D |
probably benign |
Het |
| Pgc |
A |
G |
17: 48,043,335 (GRCm39) |
I228V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,519,394 (GRCm39) |
S52G |
probably benign |
Het |
| Rad51 |
C |
T |
2: 118,962,049 (GRCm39) |
H199Y |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 74,149,407 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,844,413 (GRCm39) |
T861I |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,140,844 (GRCm39) |
D1061V |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,092,383 (GRCm39) |
D266G |
possibly damaging |
Het |
| Snapc3 |
A |
G |
4: 83,336,996 (GRCm39) |
E119G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,464,159 (GRCm39) |
G3862D |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,048,699 (GRCm39) |
T318M |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Thsd1 |
T |
C |
8: 22,733,594 (GRCm39) |
Y214H |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,032,264 (GRCm39) |
V98A |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,222,070 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,616,150 (GRCm39) |
V8271L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,603,584 (GRCm39) |
Q599K |
possibly damaging |
Het |
| Zfp995 |
G |
A |
17: 22,098,932 (GRCm39) |
T434I |
probably benign |
Het |
| Zfy1 |
G |
T |
Y: 725,518 (GRCm39) |
T749K |
possibly 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 |
|
|
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'- CAACTGCTTTGTCTTGGACTG -3'
(R):5'- TTCTGAGGGAGATGTGGCAC -3'
Sequencing Primer
(F):5'- TGCTGGGCCAGGCTCTTTC -3'
(R):5'- CCAGAGAGGGACATGTCACCTTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation