Incidental Mutation 'R7633:Cracd'
| ID |
589750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7633 (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 G
at 77005367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 576
(E576G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113796
(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: E576G
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: E576G
| 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: E576G
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: E576G
| 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: E576G
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: E576G
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,263,465 (GRCm39) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,784,446 (GRCm39) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,829,171 (GRCm39) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,948,373 (GRCm39) |
|
probably null |
Het |
| Calhm4 |
G |
A |
10: 33,919,904 (GRCm39) |
T121M |
possibly damaging |
Het |
| Cd46 |
A |
T |
1: 194,765,927 (GRCm39) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,391,226 (GRCm39) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,683,699 (GRCm39) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,748,371 (GRCm39) |
T392M |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,617,279 (GRCm39) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,166,478 (GRCm39) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,107,263 (GRCm39) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,705,792 (GRCm39) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,693 (GRCm39) |
D521G |
probably damaging |
Het |
| Gm6882 |
A |
G |
7: 21,161,577 (GRCm39) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,365,128 (GRCm39) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,296,662 (GRCm39) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,318,383 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,161,757 (GRCm39) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,608,683 (GRCm39) |
G232S |
probably damaging |
Het |
| Lypd9 |
C |
A |
11: 58,338,304 (GRCm39) |
M29I |
probably benign |
Het |
| Mov10 |
A |
G |
3: 104,704,381 (GRCm39) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,331 (GRCm39) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,596 (GRCm39) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,138,937 (GRCm39) |
S3W |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,237,967 (GRCm39) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,846,977 (GRCm39) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,106,173 (GRCm39) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,810,999 (GRCm39) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,347,455 (GRCm39) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,124,215 (GRCm39) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,841,337 (GRCm39) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 90,953,904 (GRCm39) |
|
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,317,161 (GRCm39) |
R7S |
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,091,481 (GRCm39) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 59,962,002 (GRCm39) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,552,008 (GRCm39) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,434,556 (GRCm39) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,736,500 (GRCm39) |
T482I |
probably damaging |
Het |
| Tcstv7b |
G |
A |
13: 120,702,376 (GRCm39) |
W57* |
probably null |
Het |
| Tmc6 |
G |
T |
11: 117,660,046 (GRCm39) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 68,945,259 (GRCm39) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,481,832 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,432,644 (GRCm39) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,354 (GRCm39) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,448 (GRCm39) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,074,513 (GRCm39) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,176,193 (GRCm39) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,118,823 (GRCm39) |
F240L |
possibly damaging |
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 |
|
|
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'- TAACGGACGATGCTGACCAG -3'
(R):5'- ACCAAAATGGCCGTGTGTG -3'
Sequencing Primer
(F):5'- CGGGACCTTGAGAAGCCAG -3'
(R):5'- TTACCGGGCTCAGGTTGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation