Incidental Mutation 'R5045:Fam20a'
ID |
500897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam20a
|
Ensembl Gene |
ENSMUSG00000020614 |
Gene Name |
FAM20A, golgi associated secretory pathway pseudokinase |
Synonyms |
|
MMRRC Submission |
042635-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5045 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
109563752-109613989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109568711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 272
(I272V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020938]
[ENSMUST00000155559]
|
AlphaFold |
Q8CID3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020938
AA Change: I272V
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020938 Gene: ENSMUSG00000020614 AA Change: I272V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
Pfam:Fam20C
|
306 |
522 |
8.9e-101 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146408
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155559
AA Change: I272V
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116687 Gene: ENSMUSG00000020614 AA Change: I272V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
low complexity region
|
50 |
61 |
N/A |
INTRINSIC |
Pfam:DUF1193
|
305 |
525 |
3.2e-103 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
C |
3: 36,530,327 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
A |
G |
13: 77,415,927 (GRCm39) |
|
probably null |
Het |
4930519P11Rik |
A |
T |
2: 154,454,950 (GRCm39) |
C136* |
probably null |
Het |
4930519P11Rik |
G |
T |
2: 154,454,982 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,113,860 (GRCm39) |
H1189L |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,039,743 (GRCm39) |
I227V |
possibly damaging |
Het |
Arhgap29 |
C |
A |
3: 121,796,244 (GRCm39) |
N445K |
probably benign |
Het |
Atp13a3 |
T |
C |
16: 30,158,694 (GRCm39) |
H811R |
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,118,851 (GRCm39) |
N529S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,026,080 (GRCm39) |
S439T |
probably benign |
Het |
Ces3a |
G |
T |
8: 105,777,248 (GRCm39) |
|
probably null |
Het |
Cftr |
T |
A |
6: 18,230,080 (GRCm39) |
N408K |
probably benign |
Het |
Chil5 |
T |
C |
3: 105,931,456 (GRCm39) |
N136S |
possibly damaging |
Het |
Col20a1 |
A |
G |
2: 180,648,638 (GRCm39) |
D933G |
probably damaging |
Het |
Crh |
A |
T |
3: 19,748,153 (GRCm39) |
L163* |
probably null |
Het |
Ctps1 |
A |
C |
4: 120,410,075 (GRCm39) |
|
probably null |
Het |
Cyb5d2 |
A |
G |
11: 72,686,401 (GRCm39) |
V63A |
probably damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,275,272 (GRCm39) |
|
probably null |
Het |
Dclk3 |
A |
T |
9: 111,296,856 (GRCm39) |
E133D |
probably damaging |
Het |
Dhrs9 |
A |
G |
2: 69,223,339 (GRCm39) |
D29G |
probably benign |
Het |
Disp2 |
G |
A |
2: 118,622,543 (GRCm39) |
E1092K |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,652,665 (GRCm39) |
I764T |
probably damaging |
Het |
Epm2aip1 |
C |
A |
9: 111,102,427 (GRCm39) |
R467S |
possibly damaging |
Het |
Fgb |
T |
C |
3: 82,950,680 (GRCm39) |
Y358C |
probably damaging |
Het |
Gm11596 |
A |
T |
11: 99,683,695 (GRCm39) |
S142T |
unknown |
Het |
Golga4 |
A |
G |
9: 118,394,724 (GRCm39) |
T9A |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,299,093 (GRCm39) |
P2813L |
probably damaging |
Het |
Ighv1-9 |
C |
T |
12: 114,547,440 (GRCm39) |
G34R |
probably damaging |
Het |
Kalrn |
A |
C |
16: 34,134,722 (GRCm39) |
Y353* |
probably null |
Het |
Klrk1 |
T |
C |
6: 129,594,466 (GRCm39) |
Y42C |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mbtd1 |
T |
C |
11: 93,822,641 (GRCm39) |
Y484H |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,633 (GRCm39) |
R273G |
possibly damaging |
Het |
Myh11 |
A |
T |
16: 14,057,391 (GRCm39) |
L308* |
probably null |
Het |
Nacc2 |
G |
A |
2: 25,980,150 (GRCm39) |
|
probably null |
Het |
Nadsyn1 |
A |
G |
7: 143,360,706 (GRCm39) |
L354P |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,110,172 (GRCm39) |
Q354L |
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,490 (GRCm39) |
I220L |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,664 (GRCm39) |
G308E |
probably benign |
Het |
Phactr3 |
T |
C |
2: 177,973,412 (GRCm39) |
I470T |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,349,787 (GRCm39) |
P211S |
unknown |
Het |
Potefam1 |
T |
A |
2: 111,023,804 (GRCm39) |
Q110L |
unknown |
Het |
Prickle2 |
T |
C |
6: 92,353,375 (GRCm39) |
D753G |
probably damaging |
Het |
Prr12 |
A |
G |
7: 44,699,318 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,166,477 (GRCm39) |
E917G |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,697,268 (GRCm39) |
K551* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,302,740 (GRCm39) |
L1033P |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,618 (GRCm39) |
Q378L |
possibly damaging |
Het |
Tdpoz8 |
G |
T |
3: 92,981,524 (GRCm39) |
D181Y |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,904 (GRCm39) |
K309* |
probably null |
Het |
Trim69 |
A |
G |
2: 122,004,727 (GRCm39) |
T275A |
probably benign |
Het |
Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,622,751 (GRCm39) |
F72L |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,695,496 (GRCm39) |
D305E |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,273,597 (GRCm39) |
I804V |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,107,159 (GRCm39) |
K492E |
possibly damaging |
Het |
Zkscan1 |
A |
G |
5: 138,099,182 (GRCm39) |
H375R |
probably damaging |
Het |
|
Other mutations in Fam20a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00827:Fam20a
|
APN |
11 |
109,568,588 (GRCm39) |
splice site |
probably benign |
|
IGL01296:Fam20a
|
APN |
11 |
109,576,177 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01319:Fam20a
|
APN |
11 |
109,569,284 (GRCm39) |
splice site |
probably benign |
|
IGL01322:Fam20a
|
APN |
11 |
109,573,738 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02086:Fam20a
|
APN |
11 |
109,564,239 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02563:Fam20a
|
APN |
11 |
109,568,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02883:Fam20a
|
APN |
11 |
109,565,953 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02893:Fam20a
|
APN |
11 |
109,612,414 (GRCm39) |
missense |
probably benign |
0.00 |
Infamy
|
UTSW |
11 |
109,564,168 (GRCm39) |
missense |
possibly damaging |
0.87 |
snide
|
UTSW |
11 |
109,612,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
ungainly
|
UTSW |
11 |
109,573,696 (GRCm39) |
nonsense |
probably null |
|
P0026:Fam20a
|
UTSW |
11 |
109,566,667 (GRCm39) |
critical splice donor site |
probably null |
|
R0726:Fam20a
|
UTSW |
11 |
109,568,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R1317:Fam20a
|
UTSW |
11 |
109,568,664 (GRCm39) |
missense |
probably damaging |
0.99 |
R1462:Fam20a
|
UTSW |
11 |
109,568,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Fam20a
|
UTSW |
11 |
109,568,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Fam20a
|
UTSW |
11 |
109,568,664 (GRCm39) |
missense |
probably damaging |
0.99 |
R1761:Fam20a
|
UTSW |
11 |
109,568,664 (GRCm39) |
missense |
probably damaging |
0.99 |
R1889:Fam20a
|
UTSW |
11 |
109,564,380 (GRCm39) |
missense |
probably benign |
0.30 |
R1895:Fam20a
|
UTSW |
11 |
109,564,380 (GRCm39) |
missense |
probably benign |
0.30 |
R1971:Fam20a
|
UTSW |
11 |
109,576,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Fam20a
|
UTSW |
11 |
109,565,449 (GRCm39) |
missense |
probably benign |
0.13 |
R3745:Fam20a
|
UTSW |
11 |
109,568,616 (GRCm39) |
missense |
probably benign |
0.17 |
R4684:Fam20a
|
UTSW |
11 |
109,612,513 (GRCm39) |
missense |
unknown |
|
R4835:Fam20a
|
UTSW |
11 |
109,564,389 (GRCm39) |
missense |
probably benign |
0.40 |
R5161:Fam20a
|
UTSW |
11 |
109,564,196 (GRCm39) |
missense |
probably benign |
0.00 |
R5715:Fam20a
|
UTSW |
11 |
109,569,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5817:Fam20a
|
UTSW |
11 |
109,564,244 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5960:Fam20a
|
UTSW |
11 |
109,566,795 (GRCm39) |
intron |
probably benign |
|
R6162:Fam20a
|
UTSW |
11 |
109,573,696 (GRCm39) |
nonsense |
probably null |
|
R6312:Fam20a
|
UTSW |
11 |
109,565,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Fam20a
|
UTSW |
11 |
109,612,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7311:Fam20a
|
UTSW |
11 |
109,565,454 (GRCm39) |
nonsense |
probably null |
|
R7366:Fam20a
|
UTSW |
11 |
109,564,168 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8013:Fam20a
|
UTSW |
11 |
109,576,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8014:Fam20a
|
UTSW |
11 |
109,576,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9086:Fam20a
|
UTSW |
11 |
109,566,754 (GRCm39) |
nonsense |
probably null |
|
R9751:Fam20a
|
UTSW |
11 |
109,565,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACGCATGTGCTAATGGC -3'
(R):5'- TGTTATGTTTCACCGAGGAGC -3'
Sequencing Primer
(F):5'- ACCTACCAGTGGGCATGATG -3'
(R):5'- AACTCATTCCATAGCTGGGGC -3'
|
Posted On |
2017-12-01 |