Incidental Mutation 'R9628:Cracd'
| ID |
725271 |
| 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 # |
R9628 (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 G
at 77004923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 428
(E428G)
|
| 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: E428G
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: E428G
| 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: E428G
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: E428G
| 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: E428G
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: E428G
| 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,193 (GRCm39) |
N635D |
probably damaging |
Het |
| Ankrd13c |
G |
C |
3: 157,653,313 (GRCm39) |
K50N |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,838,025 (GRCm39) |
Y635C |
unknown |
Het |
| Avl9 |
T |
A |
6: 56,713,460 (GRCm39) |
Y239* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,097,961 (GRCm39) |
H1449Q |
|
Het |
| Ccdc141 |
G |
A |
2: 76,844,838 (GRCm39) |
P1410S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,925,043 (GRCm39) |
T471M |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,083,213 (GRCm39) |
S27P |
|
Het |
| Cdk11b |
T |
G |
4: 155,734,154 (GRCm39) |
D756E |
unknown |
Het |
| Celsr3 |
C |
A |
9: 108,703,559 (GRCm39) |
S14* |
probably null |
Het |
| Cntrob |
T |
C |
11: 69,213,782 (GRCm39) |
T3A |
possibly damaging |
Het |
| Csde1 |
T |
C |
3: 102,962,825 (GRCm39) |
V738A |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,118,999 (GRCm39) |
Y230H |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,142,993 (GRCm39) |
I264T |
probably damaging |
Het |
| Dleu7 |
C |
A |
14: 62,530,144 (GRCm39) |
A86S |
possibly damaging |
Het |
| Dnmbp |
T |
A |
19: 43,858,646 (GRCm39) |
D132V |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,111,672 (GRCm39) |
V219A |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,292 (GRCm39) |
Y256C |
probably benign |
Het |
| Ess2 |
A |
T |
16: 17,720,757 (GRCm39) |
M363K |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,825,010 (GRCm39) |
E168G |
probably damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,545 (GRCm39) |
Y18C |
probably damaging |
Het |
| Gckr |
C |
A |
5: 31,457,934 (GRCm39) |
A147D |
probably damaging |
Het |
| H1f8 |
G |
A |
6: 115,924,700 (GRCm39) |
V69I |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,901,560 (GRCm39) |
L506P |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,916,103 (GRCm39) |
|
probably null |
Het |
| Ldhb |
T |
C |
6: 142,439,862 (GRCm39) |
E226G |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,058,948 (GRCm39) |
V223G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,394,330 (GRCm39) |
V365A |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,776 (GRCm39) |
K464E |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,158,285 (GRCm39) |
I1000T |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,568,966 (GRCm39) |
L35P |
probably damaging |
Het |
| Nptx2 |
G |
A |
5: 144,490,261 (GRCm39) |
R230H |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,183,274 (GRCm39) |
R328H |
probably damaging |
Het |
| Or1e25 |
G |
A |
11: 73,493,864 (GRCm39) |
V153I |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,670 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,399,871 (GRCm39) |
L182R |
probably benign |
Het |
| Padi6 |
G |
A |
4: 140,464,626 (GRCm39) |
T201I |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,354,985 (GRCm39) |
T13I |
possibly damaging |
Het |
| Ppp6r1 |
G |
A |
7: 4,636,112 (GRCm39) |
A782V |
probably benign |
Het |
| Rab18 |
G |
A |
18: 6,788,647 (GRCm39) |
V205M |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,398 (GRCm39) |
I722N |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,512 (GRCm39) |
V135A |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,961,422 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
T |
C |
5: 31,197,746 (GRCm39) |
Y321C |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,555,186 (GRCm39) |
D178E |
probably benign |
Het |
| Swsap1 |
T |
G |
9: 21,867,172 (GRCm39) |
S39A |
|
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tor1aip1 |
C |
A |
1: 155,893,320 (GRCm39) |
G276* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,705,999 (GRCm39) |
M1220I |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r35 |
A |
G |
7: 7,815,702 (GRCm39) |
V489A |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,932,549 (GRCm39) |
V309A |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,842,630 (GRCm39) |
N434D |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,009,423 (GRCm39) |
H463L |
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 |
|
|
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 |
|
|
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'- GGGCAGGGAAGGTACCTC -3'
(R):5'- CTCCTTCTGGACTCTGCGG -3'
Sequencing Primer
(F):5'- CGGAGGAACAGCGCTGTAC -3'
(R):5'- TGGACTCTGCGGACCTTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation