Incidental Mutation 'R1924:Cracd'
| ID |
213266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
039942-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77006470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 944
(T944S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000121160]
[ENSMUST00000163347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000120639
AA Change: T944S
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: T944S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121160
AA Change: T944S
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: T944S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
45 |
172 |
1.8e-41 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152373
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163347
AA Change: T944S
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: T944S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
94% (63/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
A |
5: 114,368,781 (GRCm39) |
M1666I |
possibly damaging |
Het |
| Adamts13 |
A |
T |
2: 26,874,153 (GRCm39) |
Q434L |
probably damaging |
Het |
| Adgrg3 |
G |
A |
8: 95,762,562 (GRCm39) |
R204H |
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,073,324 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,987,101 (GRCm39) |
C251* |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,833,794 (GRCm39) |
N580K |
probably benign |
Het |
| C4b |
A |
G |
17: 34,948,631 (GRCm39) |
C1560R |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,334,880 (GRCm39) |
I809T |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,016,755 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,688,857 (GRCm39) |
S151G |
probably damaging |
Het |
| Capn1 |
T |
C |
19: 6,040,086 (GRCm39) |
|
probably null |
Het |
| Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,822,637 (GRCm39) |
D862G |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,061,979 (GRCm39) |
L237P |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,440,802 (GRCm39) |
I1120V |
possibly damaging |
Het |
| Chad |
A |
C |
11: 94,456,384 (GRCm39) |
N154T |
possibly damaging |
Het |
| Cog1 |
C |
T |
11: 113,547,038 (GRCm39) |
T544I |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,931,830 (GRCm39) |
E590G |
possibly damaging |
Het |
| Dapk2 |
T |
A |
9: 66,072,642 (GRCm39) |
M6K |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,421,487 (GRCm39) |
E311G |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,809,641 (GRCm39) |
T779S |
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,916,744 (GRCm39) |
V644A |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,414,934 (GRCm39) |
V147A |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,357 (GRCm39) |
*157K |
probably null |
Het |
| Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
| Gmps |
T |
G |
3: 63,906,049 (GRCm39) |
C449G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,844,988 (GRCm39) |
S32P |
possibly damaging |
Het |
| Igkv1-115 |
A |
T |
6: 68,138,592 (GRCm39) |
D65V |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,859,105 (GRCm39) |
N41S |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,145,262 (GRCm39) |
D25E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,960 (GRCm39) |
R4426G |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myo5a |
G |
T |
9: 75,023,489 (GRCm39) |
D17Y |
probably damaging |
Het |
| Nat1 |
C |
G |
8: 67,944,076 (GRCm39) |
L154V |
probably benign |
Het |
| Nek3 |
T |
A |
8: 22,647,047 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2w25 |
G |
T |
11: 59,503,949 (GRCm39) |
R53L |
possibly damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,562 (GRCm39) |
D121G |
probably damaging |
Het |
| Or6c204 |
A |
G |
10: 129,023,044 (GRCm39) |
I82T |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,789,147 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,163 (GRCm39) |
E22D |
possibly damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,525 (GRCm39) |
L299P |
probably damaging |
Het |
| Osr1 |
T |
G |
12: 9,629,268 (GRCm39) |
L47R |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,291,053 (GRCm39) |
N493I |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,539,820 (GRCm39) |
N522K |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,385,771 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
A |
14: 64,268,992 (GRCm39) |
A1526E |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,291,878 (GRCm39) |
I1623F |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,437,428 (GRCm39) |
T104A |
probably benign |
Het |
| Sh3rf3 |
T |
C |
10: 58,939,989 (GRCm39) |
|
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,245,748 (GRCm39) |
Y213H |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,106,563 (GRCm39) |
R955H |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,569,946 (GRCm39) |
Y307N |
probably damaging |
Het |
| Tnrc6b |
G |
T |
15: 80,768,407 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,936 (GRCm39) |
Y501H |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,191,914 (GRCm39) |
H315R |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,892,624 (GRCm39) |
Y142H |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,160,715 (GRCm39) |
S763P |
possibly damaging |
Het |
|
| Other mutations in Cracd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Cracd
|
APN |
5 |
77,013,903 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00660:Cracd
|
APN |
5 |
77,002,780 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00924:Cracd
|
APN |
5 |
77,006,833 (GRCm39) |
missense |
unknown |
|
|
IGL01025:Cracd
|
APN |
5 |
76,805,921 (GRCm39) |
intron |
probably benign |
|
|
IGL01122:Cracd
|
APN |
5 |
77,018,522 (GRCm39) |
makesense |
probably null |
|
|
IGL01393:Cracd
|
APN |
5 |
77,006,818 (GRCm39) |
missense |
unknown |
|
|
IGL01526:Cracd
|
APN |
5 |
77,005,478 (GRCm39) |
missense |
unknown |
|
|
IGL01986:Cracd
|
APN |
5 |
77,006,457 (GRCm39) |
missense |
unknown |
|
|
IGL02009:Cracd
|
APN |
5 |
76,996,817 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02724:Cracd
|
APN |
5 |
77,006,306 (GRCm39) |
missense |
unknown |
|
|
IGL02869:Cracd
|
APN |
5 |
77,006,890 (GRCm39) |
missense |
unknown |
|
|
IGL03030:Cracd
|
APN |
5 |
77,005,463 (GRCm39) |
missense |
unknown |
|
|
IGL03150:Cracd
|
APN |
5 |
77,015,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
LCD18:Cracd
|
UTSW |
5 |
76,806,589 (GRCm39) |
intron |
probably benign |
|
|
R0975:Cracd
|
UTSW |
5 |
77,004,165 (GRCm39) |
splice site |
probably benign |
|
|
R1329:Cracd
|
UTSW |
5 |
76,805,779 (GRCm39) |
intron |
probably benign |
|
|
R1439:Cracd
|
UTSW |
5 |
76,988,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1750:Cracd
|
UTSW |
5 |
77,005,522 (GRCm39) |
missense |
unknown |
|
|
R1773:Cracd
|
UTSW |
5 |
77,015,052 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1885:Cracd
|
UTSW |
5 |
77,004,589 (GRCm39) |
missense |
unknown |
|
|
R2483:Cracd
|
UTSW |
5 |
77,004,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3840:Cracd
|
UTSW |
5 |
77,006,858 (GRCm39) |
missense |
unknown |
|
|
R3841:Cracd
|
UTSW |
5 |
77,006,858 (GRCm39) |
missense |
unknown |
|
|
R3874:Cracd
|
UTSW |
5 |
76,988,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Cracd
|
UTSW |
5 |
77,004,421 (GRCm39) |
missense |
unknown |
|
|
R4033:Cracd
|
UTSW |
5 |
77,006,312 (GRCm39) |
missense |
unknown |
|
|
R4401:Cracd
|
UTSW |
5 |
76,996,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4749:Cracd
|
UTSW |
5 |
77,006,681 (GRCm39) |
missense |
unknown |
|
|
R4884:Cracd
|
UTSW |
5 |
76,996,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Cracd
|
UTSW |
5 |
77,005,421 (GRCm39) |
missense |
unknown |
|
|
R5010:Cracd
|
UTSW |
5 |
76,805,681 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5086:Cracd
|
UTSW |
5 |
77,004,971 (GRCm39) |
missense |
unknown |
|
|
R5468:Cracd
|
UTSW |
5 |
76,988,610 (GRCm39) |
intron |
probably benign |
|
|
R5786:Cracd
|
UTSW |
5 |
77,014,043 (GRCm39) |
splice site |
probably null |
|
|
R5813:Cracd
|
UTSW |
5 |
77,006,275 (GRCm39) |
missense |
unknown |
|
|
R5866:Cracd
|
UTSW |
5 |
77,005,384 (GRCm39) |
missense |
unknown |
|
|
R5928:Cracd
|
UTSW |
5 |
76,989,581 (GRCm39) |
intron |
probably benign |
|
|
R6273:Cracd
|
UTSW |
5 |
77,005,568 (GRCm39) |
missense |
unknown |
|
|
R6577:Cracd
|
UTSW |
5 |
77,013,947 (GRCm39) |
unclassified |
probably benign |
|
|
R6838:Cracd
|
UTSW |
5 |
77,006,056 (GRCm39) |
missense |
unknown |
|
|
R6849:Cracd
|
UTSW |
5 |
77,005,004 (GRCm39) |
missense |
unknown |
|
|
R6849:Cracd
|
UTSW |
5 |
77,004,857 (GRCm39) |
missense |
unknown |
|
|
R6914:Cracd
|
UTSW |
5 |
77,004,854 (GRCm39) |
missense |
unknown |
|
|
R7017:Cracd
|
UTSW |
5 |
77,004,795 (GRCm39) |
small deletion |
probably benign |
|
|
R7094:Cracd
|
UTSW |
5 |
77,006,879 (GRCm39) |
missense |
unknown |
|
|
R7367:Cracd
|
UTSW |
5 |
77,004,449 (GRCm39) |
missense |
unknown |
|
|
R7394:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7436:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7443:Cracd
|
UTSW |
5 |
77,004,485 (GRCm39) |
missense |
unknown |
|
|
R7500:Cracd
|
UTSW |
5 |
76,805,905 (GRCm39) |
missense |
unknown |
|
|
R7566:Cracd
|
UTSW |
5 |
77,014,122 (GRCm39) |
splice site |
probably null |
|
|
R7633:Cracd
|
UTSW |
5 |
77,005,367 (GRCm39) |
missense |
unknown |
|
|
R7728:Cracd
|
UTSW |
5 |
77,005,316 (GRCm39) |
missense |
unknown |
|
|
R7930:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7985:Cracd
|
UTSW |
5 |
76,805,897 (GRCm39) |
missense |
unknown |
|
|
R8154:Cracd
|
UTSW |
5 |
76,989,644 (GRCm39) |
missense |
unknown |
|
|
R8463:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8547:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8805:Cracd
|
UTSW |
5 |
77,006,489 (GRCm39) |
missense |
unknown |
|
|
R8819:Cracd
|
UTSW |
5 |
77,004,793 (GRCm39) |
small deletion |
probably benign |
|
|
R8888:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R9256:Cracd
|
UTSW |
5 |
76,988,757 (GRCm39) |
missense |
unknown |
|
|
R9358:Cracd
|
UTSW |
5 |
77,002,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R9618:Cracd
|
UTSW |
5 |
77,004,617 (GRCm39) |
missense |
unknown |
|
|
R9628:Cracd
|
UTSW |
5 |
77,004,923 (GRCm39) |
missense |
unknown |
|
|
R9639:Cracd
|
UTSW |
5 |
77,005,997 (GRCm39) |
missense |
unknown |
|
|
R9762:Cracd
|
UTSW |
5 |
77,006,555 (GRCm39) |
missense |
unknown |
|
|
R9785:Cracd
|
UTSW |
5 |
77,015,028 (GRCm39) |
missense |
unknown |
|
|
Z1176:Cracd
|
UTSW |
5 |
77,005,093 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTGGACAGCGAGACCAC -3'
(R):5'- GATGGCATTTTGCTTACTGCC -3'
Sequencing Primer
(F):5'- CAGCGAGACCACGAGTGAC -3'
(R):5'- GCCCTGTCTTGCTCTGGAG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation