Incidental Mutation 'R6838:Cracd'
ID |
537941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracd
|
Ensembl Gene |
ENSMUSG00000036377 |
Gene Name |
capping protein inhibiting regulator of actin |
Synonyms |
C530008M17Rik |
MMRRC Submission |
044946-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6838 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77006056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 806
(T806S)
|
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: T806S
|
SMART Domains |
Protein: ENSMUSP00000113796 Gene: ENSMUSG00000036377 AA Change: T806S
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: T806S
|
SMART Domains |
Protein: ENSMUSP00000113947 Gene: ENSMUSG00000036377 AA Change: T806S
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 |
unknown
Transcript: ENSMUST00000163347
AA Change: T806S
|
SMART Domains |
Protein: ENSMUSP00000127212 Gene: ENSMUSG00000036377 AA Change: T806S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,019,498 (GRCm39) |
M321L |
probably benign |
Het |
Avil |
G |
A |
10: 126,849,431 (GRCm39) |
D576N |
probably benign |
Het |
Bbs1 |
C |
T |
19: 4,953,880 (GRCm39) |
M94I |
possibly damaging |
Het |
Bms1 |
A |
G |
6: 118,393,455 (GRCm39) |
V139A |
probably benign |
Het |
Bscl2 |
A |
T |
19: 8,818,745 (GRCm39) |
M57L |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,975,364 (GRCm39) |
I794T |
possibly damaging |
Het |
Cacna1s |
C |
T |
1: 136,012,175 (GRCm39) |
T539I |
possibly damaging |
Het |
Cand1 |
T |
C |
10: 119,045,935 (GRCm39) |
K990R |
probably benign |
Het |
Capn7 |
A |
G |
14: 31,076,130 (GRCm39) |
I311V |
possibly damaging |
Het |
Cd180 |
A |
G |
13: 102,839,239 (GRCm39) |
N41D |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,471 (GRCm39) |
F275L |
possibly damaging |
Het |
Celsr1 |
G |
A |
15: 85,823,395 (GRCm39) |
T1671I |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,780,062 (GRCm39) |
Q798L |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,971,180 (GRCm39) |
D46G |
probably benign |
Het |
Ddx46 |
G |
T |
13: 55,787,748 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,230,948 (GRCm39) |
L1402P |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,929,525 (GRCm39) |
E1402G |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,784,008 (GRCm39) |
Y1989H |
possibly damaging |
Het |
Ereg |
A |
G |
5: 91,236,323 (GRCm39) |
D50G |
probably benign |
Het |
Evi5 |
G |
T |
5: 107,990,027 (GRCm39) |
T64K |
possibly damaging |
Het |
Frem3 |
A |
C |
8: 81,338,660 (GRCm39) |
T318P |
probably damaging |
Het |
Gpx1 |
A |
G |
9: 108,217,139 (GRCm39) |
D81G |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,833,929 (GRCm39) |
I499V |
probably benign |
Het |
H4c12 |
A |
T |
13: 21,934,375 (GRCm39) |
F101I |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,758,526 (GRCm39) |
D804E |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,107,437 (GRCm39) |
E846G |
probably damaging |
Het |
Iars2 |
G |
A |
1: 185,061,342 (GRCm39) |
A48V |
probably damaging |
Het |
Invs |
C |
T |
4: 48,283,278 (GRCm39) |
T10M |
possibly damaging |
Het |
Ism2 |
A |
T |
12: 87,326,975 (GRCm39) |
D321E |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,448,152 (GRCm39) |
S231P |
possibly damaging |
Het |
Kif17 |
A |
T |
4: 138,005,710 (GRCm39) |
|
probably null |
Het |
Lvrn |
A |
G |
18: 47,023,947 (GRCm39) |
I765V |
possibly damaging |
Het |
Map4k4 |
T |
A |
1: 40,015,882 (GRCm39) |
C108S |
probably damaging |
Het |
Mapk13 |
G |
T |
17: 28,996,535 (GRCm39) |
|
probably null |
Het |
Mapkapk2 |
T |
A |
1: 130,985,740 (GRCm39) |
K95* |
probably null |
Het |
Mau2 |
A |
T |
8: 70,491,947 (GRCm39) |
|
probably null |
Het |
Mex3a |
A |
G |
3: 88,444,084 (GRCm39) |
T387A |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,061,165 (GRCm39) |
|
probably null |
Het |
Ncbp3 |
A |
T |
11: 72,964,300 (GRCm39) |
M417L |
possibly damaging |
Het |
Nod2 |
A |
C |
8: 89,397,086 (GRCm39) |
E810A |
possibly damaging |
Het |
Nol3 |
A |
T |
8: 106,006,207 (GRCm39) |
E152V |
probably damaging |
Het |
Obox6 |
T |
C |
7: 15,567,664 (GRCm39) |
E261G |
possibly damaging |
Het |
Or2h1 |
A |
T |
17: 37,404,058 (GRCm39) |
L236* |
probably null |
Het |
Or8b12b |
A |
C |
9: 37,684,348 (GRCm39) |
Y131S |
possibly damaging |
Het |
P3h2 |
T |
C |
16: 25,924,034 (GRCm39) |
S134G |
possibly damaging |
Het |
Plxna2 |
A |
T |
1: 194,487,222 (GRCm39) |
R1592S |
possibly damaging |
Het |
Ppp1r12a |
C |
T |
10: 108,097,137 (GRCm39) |
S250L |
possibly damaging |
Het |
Rab38 |
A |
G |
7: 88,099,917 (GRCm39) |
D144G |
possibly damaging |
Het |
Septin1 |
T |
C |
7: 126,815,894 (GRCm39) |
M176V |
probably benign |
Het |
Spata22 |
C |
T |
11: 73,236,759 (GRCm39) |
T355M |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,468,706 (GRCm39) |
N734S |
probably benign |
Het |
Tbc1d17 |
C |
A |
7: 44,493,738 (GRCm39) |
R295L |
probably damaging |
Het |
Thsd7a |
G |
T |
6: 12,504,074 (GRCm39) |
P360Q |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tnnt1 |
T |
C |
7: 4,510,406 (GRCm39) |
N239S |
possibly damaging |
Het |
Tpst1 |
A |
T |
5: 130,131,279 (GRCm39) |
M250L |
probably benign |
Het |
Urb1 |
T |
A |
16: 90,578,994 (GRCm39) |
D689V |
possibly damaging |
Het |
Usp28 |
T |
A |
9: 48,911,730 (GRCm39) |
|
probably null |
Het |
Vldlr |
G |
A |
19: 27,225,370 (GRCm39) |
D816N |
probably damaging |
Het |
Vmn1r257 |
T |
A |
7: 22,391,142 (GRCm39) |
M201L |
probably benign |
Het |
Wdr1 |
A |
G |
5: 38,687,374 (GRCm39) |
V219A |
probably damaging |
Het |
Xndc1 |
T |
C |
7: 101,722,476 (GRCm39) |
V47A |
possibly damaging |
Het |
Zfp366 |
C |
T |
13: 99,365,015 (GRCm39) |
P59S |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,382,685 (GRCm39) |
E616G |
possibly damaging |
Het |
Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
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 |
|
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 |
|
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 |
|
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Predicted Primers |
PCR Primer
(F):5'- CAGAATCCTGAAGAACTCGGAG -3'
(R):5'- TCCAAAGTGGTCGTGGACTC -3'
Sequencing Primer
(F):5'- CTGAAGAACTCGGAGGGCGAC -3'
(R):5'- TGGTCGTGGACTCCGTGC -3'
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Posted On |
2018-10-18 |