Incidental Mutation 'R6346:Fam20c'
| ID |
513947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam20c
|
| Ensembl Gene |
ENSMUSG00000025854 |
| Gene Name |
FAM20C, golgi associated secretory pathway kinase |
| Synonyms |
DMP4 |
| MMRRC Submission |
044500-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.401)
|
| Stock # |
R6346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138740836-138795818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138752450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 279
(F279S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026972]
[ENSMUST00000160645]
|
| AlphaFold |
Q5MJS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026972
AA Change: F279S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: F279S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
156 |
N/A |
INTRINSIC |
|
Pfam:Fam20C
|
349 |
565 |
4.5e-108 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160645
|
| SMART Domains |
Protein: ENSMUSP00000124584
Gene: ENSMUSG00000025854
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
156 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9085 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice with global conditional deletion of this gene display infertility, dwarfism, delayed bone ossification, reduced bone mineralization, fragile skeletons, hypophosphatemic rickets, and impaired osteoblast differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
T |
7: 75,335,002 (GRCm39) |
S455L |
probably damaging |
Het |
| Apbb1ip |
T |
G |
2: 22,757,005 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
T |
10: 26,722,061 (GRCm39) |
I11F |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,409 (GRCm39) |
N8I |
possibly damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,781 (GRCm39) |
I190N |
possibly damaging |
Het |
| Bfar |
T |
C |
16: 13,519,997 (GRCm39) |
F285S |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,180,699 (GRCm39) |
Q409* |
probably null |
Het |
| Cd244a |
T |
C |
1: 171,404,889 (GRCm39) |
V247A |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,803,326 (GRCm39) |
I244K |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,698 (GRCm39) |
E2130G |
probably damaging |
Het |
| Cyp2b23 |
T |
G |
7: 26,381,150 (GRCm39) |
H69P |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,595,253 (GRCm39) |
Q183R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,553,573 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
C |
T |
9: 58,766,327 (GRCm39) |
T665I |
unknown |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kdm7a |
A |
T |
6: 39,128,145 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
A |
C |
11: 78,910,490 (GRCm39) |
L814R |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,876,310 (GRCm39) |
I473V |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,759,445 (GRCm39) |
K201R |
probably damaging |
Het |
| Myo1b |
C |
T |
1: 51,823,666 (GRCm39) |
C413Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,533,362 (GRCm39) |
N1185I |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,565 (GRCm39) |
S701P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,723 (GRCm39) |
D112V |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,550,826 (GRCm39) |
V232D |
probably damaging |
Het |
| Pcdha6 |
G |
A |
18: 37,101,113 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,131 (GRCm39) |
L67P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,016 (GRCm39) |
H836R |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,479,512 (GRCm39) |
I10N |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,540,084 (GRCm39) |
T161A |
possibly damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
C |
T |
13: 51,833,923 (GRCm39) |
H688Y |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,665 (GRCm39) |
Y508H |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,605,651 (GRCm39) |
T210S |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,800 (GRCm39) |
V467M |
probably damaging |
Het |
| Slc27a5 |
T |
A |
7: 12,724,899 (GRCm39) |
E487V |
possibly damaging |
Het |
| Snx1 |
T |
C |
9: 66,001,930 (GRCm39) |
T298A |
possibly damaging |
Het |
| Trir |
A |
G |
8: 85,753,643 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ubd |
C |
T |
17: 37,506,242 (GRCm39) |
Q43* |
probably null |
Het |
| Ube2o |
T |
C |
11: 116,432,194 (GRCm39) |
E924G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,578 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Xirp2 |
C |
A |
2: 67,346,425 (GRCm39) |
R2889S |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
probably benign |
Het |
|
| Other mutations in Fam20c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Fam20c
|
APN |
5 |
138,794,912 (GRCm39) |
missense |
probably benign |
|
|
IGL01096:Fam20c
|
APN |
5 |
138,794,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01393:Fam20c
|
APN |
5 |
138,793,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Fam20c
|
APN |
5 |
138,793,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01960:Fam20c
|
APN |
5 |
138,792,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02317:Fam20c
|
APN |
5 |
138,792,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02979:Fam20c
|
APN |
5 |
138,743,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Fam20c
|
UTSW |
5 |
138,741,749 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0197:Fam20c
|
UTSW |
5 |
138,741,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Fam20c
|
UTSW |
5 |
138,752,392 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0615:Fam20c
|
UTSW |
5 |
138,793,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1672:Fam20c
|
UTSW |
5 |
138,793,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Fam20c
|
UTSW |
5 |
138,741,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2484:Fam20c
|
UTSW |
5 |
138,794,872 (GRCm39) |
missense |
probably benign |
|
|
R3418:Fam20c
|
UTSW |
5 |
138,743,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3419:Fam20c
|
UTSW |
5 |
138,743,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4205:Fam20c
|
UTSW |
5 |
138,741,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Fam20c
|
UTSW |
5 |
138,741,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Fam20c
|
UTSW |
5 |
138,793,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Fam20c
|
UTSW |
5 |
138,778,954 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8321:Fam20c
|
UTSW |
5 |
138,743,686 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9347:Fam20c
|
UTSW |
5 |
138,743,676 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGACCTAGCTGACTGGC -3'
(R):5'- TCTCCCTCACAGAACAAGATGG -3'
Sequencing Primer
(F):5'- CAGCTAGAGCCTTGATCCAG -3'
(R):5'- GAACCATCTCCAGGTATGTAATGGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation