Incidental Mutation 'R4788:Cracdl'
ID |
367214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cracdl
|
Ensembl Gene |
ENSMUSG00000026090 |
Gene Name |
capping protein inhibiting regulator of actin like |
Synonyms |
2010300C02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4788 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
37650758-37758905 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37670556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 128
(I128K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162875]
|
AlphaFold |
E9Q3M9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162875
AA Change: I128K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123803 Gene: ENSMUSG00000026090 AA Change: I128K
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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,960,361 (GRCm39) |
D815N |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,566,456 (GRCm39) |
C1135* |
probably null |
Het |
Ap3b1 |
G |
A |
13: 94,702,149 (GRCm39) |
M1067I |
unknown |
Het |
Arhgap15 |
T |
C |
2: 43,638,902 (GRCm39) |
M1T |
probably null |
Het |
Boc |
T |
C |
16: 44,320,796 (GRCm39) |
D288G |
probably damaging |
Het |
Brsk1 |
G |
T |
7: 4,701,954 (GRCm39) |
|
probably null |
Het |
Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
Capn13 |
A |
T |
17: 73,644,427 (GRCm39) |
Y367* |
probably null |
Het |
Ccdc191 |
A |
G |
16: 43,777,185 (GRCm39) |
E632G |
probably damaging |
Het |
Cit |
T |
C |
5: 116,071,565 (GRCm39) |
S591P |
probably damaging |
Het |
Ckmt1 |
T |
C |
2: 121,190,427 (GRCm39) |
V118A |
possibly damaging |
Het |
Cndp2 |
T |
C |
18: 84,693,289 (GRCm39) |
N157S |
probably damaging |
Het |
Col6a3 |
A |
G |
1: 90,700,672 (GRCm39) |
|
probably null |
Het |
Coq2 |
A |
T |
5: 100,805,775 (GRCm39) |
V287E |
probably damaging |
Het |
Cpa6 |
T |
C |
1: 10,478,502 (GRCm39) |
K278R |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,921,892 (GRCm39) |
Y347* |
probably null |
Het |
Dcun1d4 |
G |
T |
5: 73,691,971 (GRCm39) |
W160L |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,738,200 (GRCm39) |
T994A |
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,582,760 (GRCm39) |
T229A |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,106,513 (GRCm39) |
R1741S |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,747,213 (GRCm39) |
V1508D |
probably damaging |
Het |
Donson |
T |
C |
16: 91,484,721 (GRCm39) |
T117A |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,822,699 (GRCm39) |
D533G |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,495 (GRCm39) |
N470S |
probably damaging |
Het |
Focad |
T |
A |
4: 88,275,706 (GRCm39) |
V1105E |
unknown |
Het |
Fry |
T |
C |
5: 150,323,101 (GRCm39) |
V1084A |
probably benign |
Het |
Gabra1 |
G |
T |
11: 42,037,980 (GRCm39) |
R213S |
probably damaging |
Het |
Gbp2b |
A |
C |
3: 142,317,171 (GRCm39) |
K509T |
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,491,104 (GRCm39) |
T811A |
probably benign |
Het |
Hmgcs2 |
A |
G |
3: 98,198,400 (GRCm39) |
D101G |
probably damaging |
Het |
Ifna11 |
G |
A |
4: 88,738,245 (GRCm39) |
W17* |
probably null |
Het |
Ighv1-62-3 |
T |
A |
12: 115,424,672 (GRCm39) |
M100L |
probably benign |
Het |
Lgmn |
T |
A |
12: 102,368,936 (GRCm39) |
Y181F |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,043,076 (GRCm39) |
S644P |
probably benign |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Nav1 |
C |
T |
1: 135,397,461 (GRCm39) |
A903T |
probably benign |
Het |
Nop53 |
T |
C |
7: 15,676,240 (GRCm39) |
E153G |
possibly damaging |
Het |
Nop56 |
G |
T |
2: 130,120,820 (GRCm39) |
V190L |
probably benign |
Het |
Nyap2 |
A |
T |
1: 81,247,112 (GRCm39) |
M687L |
probably benign |
Het |
Or4a81 |
G |
A |
2: 89,619,480 (GRCm39) |
S72F |
probably damaging |
Het |
Or8g17 |
T |
C |
9: 38,930,217 (GRCm39) |
T207A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,908 (GRCm39) |
T145A |
probably benign |
Het |
Osbp2 |
T |
C |
11: 3,813,320 (GRCm39) |
K183R |
probably benign |
Het |
Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
Pax1 |
A |
G |
2: 147,208,124 (GRCm39) |
Q244R |
possibly damaging |
Het |
Pcdh9 |
C |
A |
14: 94,124,851 (GRCm39) |
V317F |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,361,417 (GRCm39) |
Q489L |
probably damaging |
Het |
Poln |
A |
T |
5: 34,286,675 (GRCm39) |
S164R |
probably benign |
Het |
Ptf1a |
T |
C |
2: 19,450,762 (GRCm39) |
S31P |
probably benign |
Het |
Rasal3 |
A |
T |
17: 32,618,312 (GRCm39) |
D164E |
probably benign |
Het |
Rnf170 |
A |
G |
8: 26,630,891 (GRCm39) |
E168G |
probably damaging |
Het |
Rubcn |
A |
G |
16: 32,656,778 (GRCm39) |
|
probably null |
Het |
Sec16b |
A |
T |
1: 157,389,094 (GRCm39) |
T830S |
possibly damaging |
Het |
Sel1l3 |
A |
G |
5: 53,289,175 (GRCm39) |
V882A |
probably benign |
Het |
Sfpq |
A |
G |
4: 126,919,791 (GRCm39) |
E512G |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,302,518 (GRCm39) |
L187P |
probably damaging |
Het |
Skint6 |
C |
T |
4: 113,095,533 (GRCm39) |
G42D |
possibly damaging |
Het |
Slc7a2 |
A |
G |
8: 41,367,023 (GRCm39) |
I526V |
probably benign |
Het |
Spmip7 |
T |
C |
11: 11,438,652 (GRCm39) |
|
probably null |
Het |
Ssh2 |
A |
T |
11: 77,320,624 (GRCm39) |
N328Y |
probably damaging |
Het |
Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
Tom1l2 |
A |
G |
11: 60,139,844 (GRCm39) |
L275P |
probably damaging |
Het |
Trgv5 |
A |
G |
13: 19,376,724 (GRCm39) |
K57R |
probably benign |
Het |
Tyrp1 |
C |
T |
4: 80,763,180 (GRCm39) |
R356* |
probably null |
Het |
Zan |
A |
G |
5: 137,440,375 (GRCm39) |
L1953P |
unknown |
Het |
Zfhx3 |
T |
C |
8: 109,520,842 (GRCm39) |
S655P |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 126,948,090 (GRCm39) |
T94A |
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 |
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'- AAGGGCACAGACTGTACTCG -3'
(R):5'- GGTCTCAGGCATGCAAGTTAG -3'
Sequencing Primer
(F):5'- GCACAGACTGTACTCGCCTTTATAG -3'
(R):5'- CTCAGGCATGCAAGTTAGTCACATTC -3'
|
Posted On |
2015-12-29 |