Incidental Mutation 'R5086:Cracd'
| ID |
387432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
042675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5086 (G1)
|
| Quality Score |
115 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77004971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 444
(E444G)
|
| 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: E444G
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: E444G
| 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: E444G
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: E444G
| 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: E444G
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: E444G
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
T |
A |
15: 80,847,901 (GRCm39) |
M278K |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,397 (GRCm39) |
I147V |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,634 (GRCm39) |
L261P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,997 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,020 (GRCm39) |
V177A |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,853,645 (GRCm39) |
S1906P |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,482,533 (GRCm39) |
Y214C |
probably benign |
Het |
| BC049715 |
C |
T |
6: 136,817,429 (GRCm39) |
T223M |
probably damaging |
Het |
| C1ra |
T |
A |
6: 124,496,688 (GRCm39) |
C375S |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,083,210 (GRCm39) |
R26* |
probably null |
Het |
| Chordc1 |
A |
G |
9: 18,224,131 (GRCm39) |
M304V |
probably benign |
Het |
| Cpne8 |
T |
C |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,656,026 (GRCm39) |
E335G |
possibly damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,683,493 (GRCm39) |
P498L |
possibly damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,756,276 (GRCm39) |
R100H |
probably benign |
Het |
| Dnaaf2 |
G |
A |
12: 69,244,060 (GRCm39) |
R334C |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,529,189 (GRCm39) |
S1071P |
possibly damaging |
Het |
| Dtnb |
T |
C |
12: 3,682,942 (GRCm39) |
V7A |
probably benign |
Het |
| Eif1 |
T |
C |
11: 100,211,552 (GRCm39) |
I62T |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,240,669 (GRCm39) |
T145S |
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,941 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
A |
T |
4: 46,724,342 (GRCm39) |
M17K |
probably damaging |
Het |
| Gm5860 |
T |
A |
4: 81,984,173 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gpbp1l1 |
C |
A |
4: 116,445,789 (GRCm39) |
T297N |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,758,023 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
A |
T |
7: 106,197,234 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
C |
10: 62,231,053 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
T |
A |
12: 114,032,510 (GRCm39) |
L97F |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,633,686 (GRCm39) |
H441R |
probably damaging |
Het |
| Iqgap2 |
G |
T |
13: 95,772,088 (GRCm39) |
R1364S |
probably benign |
Het |
| Krtap20-2 |
G |
T |
16: 89,002,806 (GRCm39) |
C2F |
unknown |
Het |
| Man2c1 |
T |
A |
9: 57,038,924 (GRCm39) |
D111E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,134,985 (GRCm39) |
E1696K |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,159,522 (GRCm39) |
V634E |
probably benign |
Het |
| Mgam2-ps |
A |
G |
6: 40,800,547 (GRCm39) |
|
noncoding transcript |
Het |
| Mllt3 |
T |
A |
4: 87,707,535 (GRCm39) |
N68Y |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,621 (GRCm39) |
D143E |
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,301,611 (GRCm39) |
D172G |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,362,308 (GRCm39) |
N1439S |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,108,625 (GRCm39) |
M764V |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,789,087 (GRCm39) |
L205P |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,812,104 (GRCm39) |
|
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,162 (GRCm39) |
T433S |
possibly damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,159 (GRCm39) |
Y279F |
probably damaging |
Het |
| Pim3 |
T |
C |
15: 88,748,606 (GRCm39) |
L235P |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,203,082 (GRCm39) |
S685F |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,853,649 (GRCm39) |
H167Q |
probably damaging |
Het |
| Plekhn1 |
G |
C |
4: 156,306,881 (GRCm39) |
P503A |
probably benign |
Het |
| Sar1a |
T |
C |
10: 61,527,125 (GRCm39) |
L181P |
probably damaging |
Het |
| Sec22a |
G |
T |
16: 35,168,112 (GRCm39) |
S133* |
probably null |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Slc31a1 |
T |
C |
4: 62,306,190 (GRCm39) |
S103P |
probably damaging |
Het |
| Spag6 |
A |
C |
2: 18,747,688 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,865,581 (GRCm39) |
D1769V |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
A |
G |
9: 90,109,510 (GRCm39) |
L322P |
probably benign |
Het |
| Tdrp |
T |
C |
8: 14,024,590 (GRCm39) |
E18G |
possibly damaging |
Het |
| Tlr3 |
T |
A |
8: 45,855,862 (GRCm39) |
N106I |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,092,227 (GRCm39) |
I112N |
probably damaging |
Het |
| Tmem14c |
C |
T |
13: 41,174,598 (GRCm39) |
T69I |
probably benign |
Het |
| Tmprss11g |
G |
A |
5: 86,644,377 (GRCm39) |
P156S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,700,947 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,082 (GRCm39) |
I296N |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,418 (GRCm39) |
V358D |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,677,375 (GRCm39) |
L892P |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,451 (GRCm39) |
Q204R |
probably benign |
Het |
| Zfp598 |
C |
A |
17: 24,899,872 (GRCm39) |
|
probably benign |
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 |
|
|
R1924:Cracd
|
UTSW |
5 |
77,006,470 (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 |
|
|
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'- CGCTGTACAGAGCAAGAGC -3'
(R):5'- TGGTCAGCATCGTCCGTTAG -3'
Sequencing Primer
(F):5'- CGAGACAATGCGAGGCC -3'
(R):5'- TCAGCATCGTCCGTTAGCCAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation