Incidental Mutation 'R9358:Cracd'
| ID |
708513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77002836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 137
(I137F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000121160]
[ENSMUST00000163347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120639
AA Change: I137F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: I137F
| 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 |
probably damaging
Transcript: ENSMUST00000121160
AA Change: I137F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: I137F
| 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 |
probably damaging
Transcript: ENSMUST00000163347
AA Change: I137F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: I137F
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
T |
3: 121,474,976 (GRCm39) |
K149* |
probably null |
Het |
| Ap3m2 |
G |
A |
8: 23,280,959 (GRCm39) |
S365F |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,060,833 (GRCm39) |
I3105K |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,492,628 (GRCm39) |
L1261P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,450,653 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,833,622 (GRCm39) |
V800M |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,222,881 (GRCm39) |
L892P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,962,987 (GRCm39) |
R466* |
probably null |
Het |
| Cilp |
A |
G |
9: 65,183,269 (GRCm39) |
Q391R |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,960,581 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnah14 |
G |
A |
1: 181,536,598 (GRCm39) |
A2414T |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,406,592 (GRCm39) |
L550P |
probably damaging |
Het |
| Erich6b |
T |
A |
14: 75,902,668 (GRCm39) |
S162T |
probably benign |
Het |
| Fbxw7 |
C |
A |
3: 84,883,561 (GRCm39) |
H578Q |
|
Het |
| Fer |
T |
C |
17: 64,280,076 (GRCm39) |
L418P |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,505,556 (GRCm39) |
L904R |
possibly damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,935,422 (GRCm39) |
I249N |
possibly damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,127 (GRCm39) |
D304E |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpatch4 |
G |
T |
3: 87,962,452 (GRCm39) |
E222* |
probably null |
Het |
| Heatr1 |
A |
T |
13: 12,433,087 (GRCm39) |
T1146S |
probably benign |
Het |
| Hrc |
A |
C |
7: 44,985,984 (GRCm39) |
E378D |
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,244,909 (GRCm39) |
R878L |
probably damaging |
Het |
| Igkv1-122 |
A |
G |
6: 67,993,756 (GRCm39) |
M11V |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,643,885 (GRCm39) |
K75* |
probably null |
Het |
| Jag1 |
A |
G |
2: 136,924,948 (GRCm39) |
V1218A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,563,695 (GRCm39) |
D94N |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,064,378 (GRCm39) |
T1201M |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,492,761 (GRCm39) |
L11P |
unknown |
Het |
| Lrfn2 |
T |
C |
17: 49,403,530 (GRCm39) |
V551A |
probably damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,358 (GRCm39) |
N256S |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,868,452 (GRCm39) |
S534P |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,437,734 (GRCm39) |
I187N |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,840 (GRCm39) |
M360V |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,553,520 (GRCm39) |
I4258L |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,781,520 (GRCm39) |
D1005G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,943,269 (GRCm39) |
R1645S |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,080 (GRCm39) |
V652D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,163,106 (GRCm39) |
M134K |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,586,868 (GRCm39) |
F893S |
probably damaging |
Het |
| Or10j3 |
A |
T |
1: 173,031,741 (GRCm39) |
R273W |
probably damaging |
Het |
| Or11h23 |
A |
G |
14: 50,947,802 (GRCm39) |
E5G |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,451 (GRCm39) |
I289N |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,775,429 (GRCm39) |
V124A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,799 (GRCm39) |
C182Y |
probably damaging |
Het |
| Pcgf1 |
G |
T |
6: 83,056,433 (GRCm39) |
R124L |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,533 (GRCm39) |
N10K |
probably damaging |
Het |
| Pdx1 |
C |
T |
5: 147,207,064 (GRCm39) |
Q6* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,735,810 (GRCm39) |
S384P |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,653 (GRCm39) |
T364S |
possibly damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,857,775 (GRCm39) |
T288I |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,271 (GRCm39) |
S515C |
probably damaging |
Het |
| Snca |
A |
T |
6: 60,710,121 (GRCm39) |
D119E |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,200,814 (GRCm39) |
D578G |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,890,729 (GRCm39) |
L389Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,826 (GRCm39) |
F783L |
possibly damaging |
Het |
| Tln1 |
A |
C |
4: 43,532,084 (GRCm39) |
I2501S |
possibly damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,257 (GRCm39) |
E27G |
probably damaging |
Het |
| Tmem200a |
G |
T |
10: 25,869,677 (GRCm39) |
N197K |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,434 (GRCm39) |
S11T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,953 (GRCm39) |
T28425A |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,439,379 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,477,197 (GRCm39) |
I398K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,236 (GRCm39) |
H472L |
probably benign |
Het |
| Vps45 |
C |
T |
3: 95,940,976 (GRCm39) |
|
probably null |
Het |
| Wdr26 |
T |
C |
1: 181,019,423 (GRCm39) |
H334R |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,613 (GRCm39) |
Y350F |
possibly damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,426,249 (GRCm39) |
D132G |
possibly damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,444,774 (GRCm39) |
T123A |
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 |
|
|
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 |
|
|
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'- AAGCTATTAAGGAACTGGCTGTG -3'
(R):5'- TCTCTACTGCCGCACAACAG -3'
Sequencing Primer
(F):5'- GTGGACTGAATTTGACTCAAAAAC -3'
(R):5'- GTAGAATTAGGGCCCGGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation