Incidental Mutation 'IGL03030:Cracd'
| ID |
408400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77005463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 608
(D608G)
|
| 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: D608G
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: D608G
| 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: D608G
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: D608G
| 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: D608G
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: D608G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,145,057 (GRCm39) |
V367A |
possibly damaging |
Het |
| Abcb5 |
A |
T |
12: 118,904,104 (GRCm39) |
S200R |
possibly damaging |
Het |
| Adam29 |
T |
C |
8: 56,326,100 (GRCm39) |
D118G |
probably damaging |
Het |
| Adh4 |
A |
G |
3: 138,134,906 (GRCm39) |
D360G |
probably benign |
Het |
| Ankle2 |
A |
G |
5: 110,399,476 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,409,881 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,343,504 (GRCm39) |
I28F |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,015 (GRCm39) |
T1608I |
possibly damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,364,894 (GRCm39) |
D123G |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,212,123 (GRCm39) |
T51M |
probably benign |
Het |
| Ccdc63 |
A |
G |
5: 122,260,876 (GRCm39) |
V216A |
probably benign |
Het |
| Ccnd2 |
A |
G |
6: 127,125,841 (GRCm39) |
V65A |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,511,113 (GRCm38) |
S434P |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,245,230 (GRCm39) |
T1163S |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,823 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,241 (GRCm39) |
N813K |
possibly damaging |
Het |
| Cog5 |
G |
A |
12: 31,840,921 (GRCm39) |
V249M |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,182,080 (GRCm39) |
N98S |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,648 (GRCm39) |
I1454N |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,237 (GRCm39) |
V603A |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,569,332 (GRCm39) |
|
probably benign |
Het |
| Ficd |
G |
A |
5: 113,874,990 (GRCm39) |
V20I |
probably benign |
Het |
| Gatad2b |
G |
T |
3: 90,249,244 (GRCm39) |
G94V |
probably benign |
Het |
| Gm4845 |
G |
A |
1: 141,184,403 (GRCm39) |
|
noncoding transcript |
Het |
| Hrnr |
G |
A |
3: 93,227,908 (GRCm39) |
V9I |
possibly damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,040 (GRCm39) |
S584P |
probably damaging |
Het |
| Klk1b24 |
C |
A |
7: 43,840,790 (GRCm39) |
Q73K |
probably benign |
Het |
| Lrp10 |
C |
A |
14: 54,706,619 (GRCm39) |
N518K |
possibly damaging |
Het |
| Lsr |
A |
G |
7: 30,658,706 (GRCm39) |
V247A |
possibly damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,862 (GRCm39) |
M1K |
probably null |
Het |
| Mprip |
T |
A |
11: 59,631,941 (GRCm39) |
|
probably null |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Oprd1 |
A |
G |
4: 131,844,696 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,883 (GRCm39) |
V210A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,162 (GRCm39) |
Y276N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,006 (GRCm39) |
I159N |
possibly damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,416 (GRCm39) |
T240A |
probably damaging |
Het |
| Or5b109 |
C |
T |
19: 13,212,418 (GRCm39) |
S268L |
probably damaging |
Het |
| Palb2 |
A |
G |
7: 121,712,479 (GRCm39) |
V591A |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,786 (GRCm39) |
D372V |
probably damaging |
Het |
| Phc3 |
A |
G |
3: 30,991,002 (GRCm39) |
V405A |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,513,796 (GRCm39) |
|
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,283,259 (GRCm39) |
K57E |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,455,372 (GRCm39) |
M4044I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,460,298 (GRCm39) |
V4169A |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,963 (GRCm39) |
I313F |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,179,160 (GRCm39) |
T952S |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,962,730 (GRCm39) |
I178N |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rapgef2 |
C |
A |
3: 78,981,614 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,269,311 (GRCm39) |
D538G |
probably damaging |
Het |
| Rnf44 |
G |
A |
13: 54,829,803 (GRCm39) |
R312* |
probably null |
Het |
| Rock1 |
T |
C |
18: 10,070,215 (GRCm39) |
|
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,275,875 (GRCm39) |
E474G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,699,365 (GRCm39) |
I2959F |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,803 (GRCm39) |
S801P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,153 (GRCm39) |
I602V |
probably benign |
Het |
| Slc6a19 |
C |
A |
13: 73,848,590 (GRCm39) |
V55L |
probably damaging |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,966,964 (GRCm39) |
V440F |
probably damaging |
Het |
| Vmn1r236 |
G |
A |
17: 21,507,108 (GRCm39) |
W75* |
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,892,799 (GRCm39) |
F780S |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,217,149 (GRCm39) |
A494S |
possibly damaging |
Het |
| Vwa3b |
A |
T |
1: 37,084,049 (GRCm39) |
K74M |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,738,989 (GRCm39) |
I1037F |
possibly damaging |
Het |
| Zfp13 |
T |
C |
17: 23,799,819 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,890 (GRCm39) |
E64G |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation