Incidental Mutation 'R4205:Fam20c'
| ID |
318865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam20c
|
| Ensembl Gene |
ENSMUSG00000025854 |
| Gene Name |
FAM20C, golgi associated secretory pathway kinase |
| Synonyms |
DMP4 |
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.401)
|
| Stock # |
R4205 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138740836-138795818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 138741431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 14
(L14R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026972]
[ENSMUST00000160645]
|
| AlphaFold |
Q5MJS3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026972
AA Change: L14R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: L14R
| 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 damaging
Transcript: ENSMUST00000160645
AA Change: L14R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124584
Gene: ENSMUSG00000025854
AA Change: L14R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197027
|
| Meta Mutation Damage Score |
0.3177 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
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 |
|
R5966:Fam20c
|
UTSW |
5 |
138,741,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6346:Fam20c
|
UTSW |
5 |
138,752,450 (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'- TTCACGACGTCCAAGTCTG -3'
(R):5'- AGCTGAAGTCTTGCAGGATG -3'
Sequencing Primer
(F):5'- CACTGAATGGACCTTGAC -3'
(R):5'- TTGTTGGGCCAGCCTGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation