Incidental Mutation 'R8917:Cracdl'
| ID |
678974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracdl
|
| Ensembl Gene |
ENSMUSG00000026090 |
| Gene Name |
capping protein inhibiting regulator of actin like |
| Synonyms |
2010300C02Rik |
| MMRRC Submission |
068704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8917 (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 G
at 37676993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 63
(V63A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160589]
[ENSMUST00000162875]
|
| AlphaFold |
E9Q3M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160589
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162875
AA Change: V63A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: V63A
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610528J11Rik |
A |
G |
4: 118,386,490 (GRCm39) |
M1V |
probably null |
Het |
| Acss3 |
T |
C |
10: 106,773,124 (GRCm39) |
S621G |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,145 (GRCm39) |
R716Q |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,535,902 (GRCm39) |
N177K |
probably damaging |
Het |
| Ankrd31 |
G |
A |
13: 96,969,212 (GRCm39) |
V950I |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,788,160 (GRCm39) |
Y922H |
probably damaging |
Het |
| Axin2 |
A |
T |
11: 108,822,341 (GRCm39) |
N298Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,303,882 (GRCm39) |
M2392K |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,974,202 (GRCm39) |
S123G |
probably benign |
Het |
| Ctla2a |
A |
T |
13: 61,083,854 (GRCm39) |
M26K |
probably benign |
Het |
| Cts8 |
A |
T |
13: 61,396,882 (GRCm39) |
|
probably benign |
Het |
| Cyp4a30b |
C |
A |
4: 115,311,662 (GRCm39) |
S110* |
probably null |
Het |
| Eif2ak4 |
A |
G |
2: 118,287,617 (GRCm39) |
Y1195C |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,578,360 (GRCm39) |
D401G |
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,663,773 (GRCm39) |
V252A |
probably benign |
Het |
| Furin |
T |
C |
7: 80,048,437 (GRCm39) |
K28E |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,270,428 (GRCm39) |
F713I |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,103 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,081,523 (GRCm39) |
N144D |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,888 (GRCm39) |
T2262S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,276 (GRCm39) |
F923S |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,928 (GRCm39) |
M200I |
probably damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,508 (GRCm39) |
Y140H |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,690 (GRCm39) |
I237N |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,455 (GRCm39) |
S152G |
possibly damaging |
Het |
| Lce1k |
C |
A |
3: 92,714,097 (GRCm39) |
C29F |
unknown |
Het |
| Map1a |
A |
G |
2: 121,131,791 (GRCm39) |
E869G |
possibly damaging |
Het |
| Mcmbp |
T |
C |
7: 128,300,281 (GRCm39) |
E576G |
probably benign |
Het |
| Mrps22 |
A |
G |
9: 98,476,163 (GRCm39) |
V231A |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,551,534 (GRCm39) |
L697F |
possibly damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,999,297 (GRCm39) |
V1291A |
probably benign |
Het |
| Nherf4 |
T |
A |
9: 44,160,141 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
A |
T |
2: 87,733,307 (GRCm39) |
S238T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,431 (GRCm39) |
T451A |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,130,310 (GRCm39) |
W1032L |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,396,403 (GRCm39) |
I1975N |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,567,637 (GRCm39) |
M115T |
possibly damaging |
Het |
| Poldip2 |
G |
A |
11: 78,412,667 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,768,935 (GRCm39) |
V429M |
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,582,392 (GRCm39) |
Q1440* |
probably null |
Het |
| Rtn3 |
A |
T |
19: 7,434,105 (GRCm39) |
I629K |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,728 (GRCm39) |
F278L |
probably damaging |
Het |
| Skor2 |
G |
A |
18: 76,948,504 (GRCm39) |
G742D |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,429 (GRCm39) |
P324S |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,676,682 (GRCm39) |
I403N |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,978,052 (GRCm39) |
Q374L |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,332 (GRCm39) |
|
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,116,927 (GRCm39) |
D75G |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,701,692 (GRCm39) |
K598* |
probably null |
Het |
| Tshr |
T |
A |
12: 91,468,829 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,185,735 (GRCm39) |
S1483P |
|
Het |
| Usp42 |
T |
C |
5: 143,701,695 (GRCm39) |
E776G |
|
Het |
| Vmn2r118 |
T |
C |
17: 55,917,216 (GRCm39) |
E432G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,433 (GRCm39) |
I830T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,159 (GRCm39) |
E1464G |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,305 (GRCm39) |
T646A |
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 |
|
|
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 |
|
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'- GCACTAAGAGACTCCCAAGG -3'
(R):5'- AGTATTCTGAGCCCCTGGTTTC -3'
Sequencing Primer
(F):5'- TCTCACATCACCCAGGTGG -3'
(R):5'- GGTTTCTGCTCACCTGCG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation