Incidental Mutation 'IGL02563:Fam20a'
ID |
298750 |
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 # |
IGL02563
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
109563752-109613989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109568620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 302
(Q302L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020938]
[ENSMUST00000155559]
|
AlphaFold |
Q8CID3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020938
AA Change: Q302L
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020938 Gene: ENSMUSG00000020614 AA Change: Q302L
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 |
possibly damaging
Transcript: ENSMUST00000155559
AA Change: Q302L
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000116687 Gene: ENSMUSG00000020614 AA Change: Q302L
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
T |
2: 35,270,410 (GRCm39) |
V97E |
probably damaging |
Het |
Abhd16a |
C |
T |
17: 35,320,221 (GRCm39) |
T362M |
probably damaging |
Het |
Adam23 |
T |
G |
1: 63,607,136 (GRCm39) |
|
probably benign |
Het |
Apeh |
C |
A |
9: 107,970,908 (GRCm39) |
R87L |
possibly damaging |
Het |
Arid3a |
T |
A |
10: 79,786,717 (GRCm39) |
M490K |
probably damaging |
Het |
Atp6v1b1 |
T |
A |
6: 83,732,433 (GRCm39) |
V251D |
probably benign |
Het |
Cog8 |
C |
T |
8: 107,783,055 (GRCm39) |
R78Q |
possibly damaging |
Het |
Cyld |
T |
C |
8: 89,462,522 (GRCm39) |
I701T |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,811,047 (GRCm39) |
|
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,205,931 (GRCm39) |
|
probably null |
Het |
Dop1b |
T |
A |
16: 93,574,293 (GRCm39) |
V2D |
probably damaging |
Het |
Dusp22 |
A |
T |
13: 30,889,628 (GRCm39) |
S70C |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,035,700 (GRCm39) |
Q3415R |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,163,498 (GRCm39) |
|
probably benign |
Het |
Fam114a1 |
G |
A |
5: 65,163,491 (GRCm39) |
|
probably null |
Het |
Fancm |
T |
A |
12: 65,139,236 (GRCm39) |
L374H |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,857,317 (GRCm39) |
E2222K |
probably benign |
Het |
Fgf17 |
G |
A |
14: 70,874,178 (GRCm39) |
Q204* |
probably null |
Het |
Gap43 |
T |
C |
16: 42,112,495 (GRCm39) |
T89A |
probably benign |
Het |
Gm5069 |
A |
G |
1: 180,155,464 (GRCm39) |
|
probably benign |
Het |
Gm9913 |
C |
T |
2: 125,348,254 (GRCm39) |
|
probably benign |
Het |
Gpr174 |
T |
C |
X: 106,336,854 (GRCm39) |
L222P |
probably benign |
Het |
Grid2 |
A |
T |
6: 64,322,857 (GRCm39) |
Q619L |
possibly damaging |
Het |
Hoxc13 |
A |
G |
15: 102,830,233 (GRCm39) |
D204G |
possibly damaging |
Het |
Itgav |
T |
C |
2: 83,601,580 (GRCm39) |
V317A |
probably benign |
Het |
Keg1 |
A |
T |
19: 12,696,521 (GRCm39) |
N288I |
probably damaging |
Het |
Ksr1 |
C |
T |
11: 78,935,684 (GRCm39) |
V234I |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,387,555 (GRCm39) |
D3365V |
probably damaging |
Het |
Luc7l3 |
A |
T |
11: 94,190,894 (GRCm39) |
|
probably null |
Het |
Mta2 |
T |
C |
19: 8,925,415 (GRCm39) |
I348T |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,640,677 (GRCm39) |
I1015V |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,867,872 (GRCm39) |
S113F |
probably damaging |
Het |
Or4f7 |
T |
C |
2: 111,644,162 (GRCm39) |
K303R |
probably benign |
Het |
Pabpn1l |
T |
A |
8: 123,347,122 (GRCm39) |
T228S |
probably damaging |
Het |
Paxx |
T |
C |
2: 25,349,674 (GRCm39) |
*206W |
probably null |
Het |
Pcdhb10 |
A |
G |
18: 37,546,126 (GRCm39) |
T401A |
probably benign |
Het |
Ppp1r3a |
A |
C |
6: 14,719,761 (GRCm39) |
D384E |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,967,077 (GRCm39) |
V122A |
probably damaging |
Het |
Scn4b |
T |
C |
9: 45,057,980 (GRCm39) |
L24P |
probably damaging |
Het |
Sec22c |
T |
C |
9: 121,513,716 (GRCm39) |
|
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,289,207 (GRCm39) |
D676G |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,604 (GRCm39) |
T289A |
probably benign |
Het |
Tekt2 |
T |
C |
4: 126,218,418 (GRCm39) |
D84G |
possibly damaging |
Het |
Tgfbr2 |
T |
A |
9: 115,959,066 (GRCm39) |
N116I |
probably benign |
Het |
Tmem196 |
A |
G |
12: 119,910,209 (GRCm39) |
M1V |
probably null |
Het |
Tnn |
A |
G |
1: 159,942,123 (GRCm39) |
V1125A |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,834,243 (GRCm39) |
M265K |
probably benign |
Het |
Zfp319 |
T |
C |
8: 96,050,362 (GRCm39) |
|
probably benign |
Het |
Zfp65 |
A |
T |
13: 67,856,184 (GRCm39) |
V365E |
possibly damaging |
Het |
Zp3 |
T |
A |
5: 136,016,464 (GRCm39) |
|
probably null |
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 |
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 |