Incidental Mutation 'R4516:Cfap20dc'
ID |
332926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap20dc
|
Ensembl Gene |
ENSMUSG00000021747 |
Gene Name |
CFAP20 domain containing |
Synonyms |
4930452B06Rik |
MMRRC Submission |
041760-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R4516 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
13803533-14038581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8536609 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 199
(D199E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102996]
|
AlphaFold |
Q6P2K3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102996
AA Change: D199E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100061 Gene: ENSMUSG00000021747 AA Change: D199E
Domain | Start | End | E-Value | Type |
Pfam:DUF667
|
1 |
188 |
1.7e-43 |
PFAM |
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
low complexity region
|
506 |
519 |
N/A |
INTRINSIC |
low complexity region
|
568 |
578 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
low complexity region
|
639 |
650 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225744
|
Meta Mutation Damage Score |
0.0777 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
Validation Efficiency |
86% (51/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
probably damaging |
Het |
|
Other mutations in Cfap20dc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Cfap20dc
|
APN |
14 |
8,473,370 (GRCm38) |
missense |
possibly damaging |
0.57 |
IGL02010:Cfap20dc
|
APN |
14 |
8,578,384 (GRCm38) |
missense |
possibly damaging |
0.68 |
IGL02385:Cfap20dc
|
APN |
14 |
8,510,920 (GRCm38) |
missense |
possibly damaging |
0.59 |
IGL02431:Cfap20dc
|
APN |
14 |
8,659,424 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02723:Cfap20dc
|
APN |
14 |
8,516,507 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02865:Cfap20dc
|
APN |
14 |
8,517,940 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03030:Cfap20dc
|
APN |
14 |
8,511,113 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03204:Cfap20dc
|
APN |
14 |
8,644,436 (GRCm38) |
missense |
possibly damaging |
0.68 |
IGL03014:Cfap20dc
|
UTSW |
14 |
8,431,608 (GRCm38) |
makesense |
probably null |
|
R0197:Cfap20dc
|
UTSW |
14 |
8,518,695 (GRCm38) |
missense |
probably damaging |
1.00 |
R0265:Cfap20dc
|
UTSW |
14 |
8,431,667 (GRCm38) |
missense |
probably damaging |
1.00 |
R0513:Cfap20dc
|
UTSW |
14 |
8,536,609 (GRCm38) |
missense |
probably damaging |
1.00 |
R0647:Cfap20dc
|
UTSW |
14 |
8,536,655 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1168:Cfap20dc
|
UTSW |
14 |
8,442,939 (GRCm38) |
missense |
probably benign |
0.22 |
R1610:Cfap20dc
|
UTSW |
14 |
8,511,110 (GRCm38) |
missense |
probably benign |
0.00 |
R1625:Cfap20dc
|
UTSW |
14 |
8,431,668 (GRCm38) |
missense |
probably damaging |
1.00 |
R2010:Cfap20dc
|
UTSW |
14 |
8,511,021 (GRCm38) |
missense |
probably damaging |
1.00 |
R2084:Cfap20dc
|
UTSW |
14 |
8,558,171 (GRCm38) |
missense |
probably damaging |
1.00 |
R2174:Cfap20dc
|
UTSW |
14 |
8,558,109 (GRCm38) |
missense |
probably benign |
0.02 |
R3802:Cfap20dc
|
UTSW |
14 |
8,510,931 (GRCm38) |
missense |
probably benign |
0.00 |
R4244:Cfap20dc
|
UTSW |
14 |
8,482,521 (GRCm38) |
missense |
probably benign |
0.00 |
R4471:Cfap20dc
|
UTSW |
14 |
8,536,571 (GRCm38) |
missense |
probably damaging |
1.00 |
R4824:Cfap20dc
|
UTSW |
14 |
8,665,997 (GRCm38) |
start codon destroyed |
probably null |
0.93 |
R4884:Cfap20dc
|
UTSW |
14 |
8,578,394 (GRCm38) |
missense |
probably damaging |
0.97 |
R4975:Cfap20dc
|
UTSW |
14 |
8,518,736 (GRCm38) |
missense |
probably benign |
0.00 |
R5455:Cfap20dc
|
UTSW |
14 |
8,536,516 (GRCm38) |
critical splice donor site |
probably null |
|
R6280:Cfap20dc
|
UTSW |
14 |
8,473,414 (GRCm38) |
critical splice acceptor site |
probably null |
|
R6438:Cfap20dc
|
UTSW |
14 |
8,431,701 (GRCm38) |
missense |
probably damaging |
0.98 |
R6639:Cfap20dc
|
UTSW |
14 |
8,536,530 (GRCm38) |
missense |
probably benign |
0.12 |
R7101:Cfap20dc
|
UTSW |
14 |
8,511,171 (GRCm38) |
missense |
possibly damaging |
0.75 |
R7456:Cfap20dc
|
UTSW |
14 |
8,442,933 (GRCm38) |
nonsense |
probably null |
|
R8266:Cfap20dc
|
UTSW |
14 |
8,482,599 (GRCm38) |
nonsense |
probably null |
|
R8854:Cfap20dc
|
UTSW |
14 |
8,518,638 (GRCm38) |
missense |
probably damaging |
1.00 |
R9053:Cfap20dc
|
UTSW |
14 |
8,518,768 (GRCm38) |
critical splice acceptor site |
probably null |
|
R9157:Cfap20dc
|
UTSW |
14 |
8,518,635 (GRCm38) |
missense |
probably benign |
0.00 |
R9294:Cfap20dc
|
UTSW |
14 |
8,578,361 (GRCm38) |
missense |
possibly damaging |
0.84 |
R9313:Cfap20dc
|
UTSW |
14 |
8,518,635 (GRCm38) |
missense |
probably benign |
0.00 |
R9502:Cfap20dc
|
UTSW |
14 |
8,659,452 (GRCm38) |
missense |
probably damaging |
0.98 |
Z1177:Cfap20dc
|
UTSW |
14 |
8,517,953 (GRCm38) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTAAATCCTGGCCTTGTATATTGAG -3'
(R):5'- GATGCGTTGTCCACAGTTGC -3'
Sequencing Primer
(F):5'- ATCCTGGCCTTGTATATTGAGAGTAC -3'
(R):5'- CAGTTGCACTGTAAACTGTTTTGC -3'
|
Posted On |
2015-08-18 |