Incidental Mutation 'IGL02086:Fam20a'
| ID |
285471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam20a
|
| Ensembl Gene |
ENSMUSG00000020614 |
| Gene Name |
FAM20A, golgi associated secretory pathway pseudokinase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109563752-109613989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109564239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 505
(I505V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020938]
[ENSMUST00000049527]
[ENSMUST00000106677]
[ENSMUST00000155559]
|
| AlphaFold |
Q8CID3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020938
AA Change: I505V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: I505V
| 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 |
probably benign
Transcript: ENSMUST00000049527
|
| SMART Domains |
Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
RIIa
|
25 |
62 |
7.54e-15 |
SMART |
|
cNMP
|
137 |
253 |
2.99e-32 |
SMART |
|
cNMP
|
255 |
374 |
1.74e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106677
|
| SMART Domains |
Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
RIIa
|
25 |
62 |
7.54e-15 |
SMART |
|
cNMP
|
137 |
253 |
2.99e-32 |
SMART |
|
cNMP
|
255 |
374 |
1.74e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155559
AA Change: I505V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: I505V
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,623 (GRCm39) |
|
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,462,930 (GRCm39) |
|
probably benign |
Het |
| Asb4 |
T |
C |
6: 5,398,386 (GRCm39) |
I117T |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,946,822 (GRCm39) |
L2847R |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,691,208 (GRCm39) |
|
probably benign |
Het |
| Ccdc77 |
C |
A |
6: 120,316,119 (GRCm39) |
C186F |
possibly damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,384 (GRCm39) |
|
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,345,919 (GRCm39) |
D166E |
probably benign |
Het |
| Cfap100 |
A |
G |
6: 90,390,954 (GRCm39) |
F8L |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,884,618 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
A |
G |
5: 8,453,189 (GRCm39) |
I270T |
probably benign |
Het |
| Dkk3 |
T |
C |
7: 111,748,236 (GRCm39) |
S123G |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,824,809 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
A |
G |
10: 53,575,351 (GRCm39) |
I30T |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,169,444 (GRCm39) |
E154G |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,329,958 (GRCm39) |
I362M |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,931,255 (GRCm39) |
E1990D |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,711,024 (GRCm39) |
Y394C |
probably damaging |
Het |
| Lgi2 |
G |
A |
5: 52,723,299 (GRCm39) |
S50F |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,288,950 (GRCm39) |
E14G |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,517 (GRCm39) |
I1009V |
probably damaging |
Het |
| Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
| Nek2 |
G |
A |
1: 191,563,401 (GRCm39) |
A422T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,636,034 (GRCm39) |
L509Q |
probably damaging |
Het |
| Or56b2 |
A |
T |
7: 104,337,634 (GRCm39) |
R137S |
probably benign |
Het |
| Pgap1 |
T |
A |
1: 54,587,147 (GRCm39) |
Q143L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,392,217 (GRCm39) |
T1937I |
probably damaging |
Het |
| Pou1f1 |
A |
G |
16: 65,326,784 (GRCm39) |
E128G |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,989,996 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,434,046 (GRCm39) |
I566V |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,138,959 (GRCm39) |
R528G |
probably damaging |
Het |
| Ptprg |
G |
T |
14: 12,110,080 (GRCm38) |
E263* |
probably null |
Het |
| Radil |
T |
C |
5: 142,529,576 (GRCm39) |
D40G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,750,442 (GRCm39) |
Y1943F |
probably damaging |
Het |
| Slc30a4 |
C |
T |
2: 122,543,947 (GRCm39) |
|
probably benign |
Het |
| Slc31a1 |
A |
T |
4: 62,306,241 (GRCm39) |
T120S |
possibly damaging |
Het |
| Snrpe |
A |
G |
1: 133,537,487 (GRCm39) |
|
probably benign |
Het |
| Stx3 |
G |
T |
19: 11,796,046 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,666,867 (GRCm39) |
E463G |
possibly damaging |
Het |
| Ufsp1 |
T |
A |
5: 137,293,178 (GRCm39) |
C43S |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,379,950 (GRCm39) |
M416K |
possibly damaging |
Het |
| Vmn1r81 |
A |
C |
7: 11,993,792 (GRCm39) |
V272G |
possibly damaging |
Het |
| Vmn2r107 |
T |
A |
17: 20,578,062 (GRCm39) |
I457K |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,433 (GRCm39) |
Y405C |
probably damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,210,440 (GRCm39) |
*242W |
probably null |
Het |
| Zfp503 |
T |
C |
14: 22,037,354 (GRCm39) |
K83R |
possibly 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 |
|
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 |
|
R5045:Fam20a
|
UTSW |
11 |
109,568,711 (GRCm39) |
missense |
probably benign |
0.38 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation