Incidental Mutation 'IGL01296:Fam20a'
| ID |
73126 |
| 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 # |
IGL01296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109563752-109613989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109576177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 194
(I194T)
|
| 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: I194T
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: I194T
| 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 |
possibly damaging
Transcript: ENSMUST00000155559
AA Change: I194T
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: I194T
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,880,864 (GRCm39) |
S301P |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,178 (GRCm39) |
V489A |
possibly damaging |
Het |
| Adcy8 |
G |
A |
15: 64,655,628 (GRCm39) |
T617I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,490,479 (GRCm39) |
D605G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,463,373 (GRCm39) |
F969I |
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,182,277 (GRCm39) |
N97K |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,272,652 (GRCm39) |
C578S |
probably damaging |
Het |
| Dcp1b |
A |
G |
6: 119,192,319 (GRCm39) |
K412E |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,589,267 (GRCm39) |
I327N |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,098,500 (GRCm39) |
|
probably null |
Het |
| Elavl4 |
T |
C |
4: 110,063,809 (GRCm39) |
N264S |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,065 (GRCm39) |
I406N |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,105,383 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,072 (GRCm39) |
V546A |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,821,557 (GRCm39) |
Q1438L |
probably null |
Het |
| Gm43638 |
T |
C |
5: 87,608,451 (GRCm39) |
I463V |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,431,602 (GRCm39) |
D84G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,376,322 (GRCm39) |
F1262L |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,046 (GRCm39) |
N335D |
probably benign |
Het |
| Lasp1 |
T |
C |
11: 97,727,016 (GRCm39) |
V246A |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,567,345 (GRCm39) |
I135L |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
T |
C |
7: 71,878,274 (GRCm39) |
K268R |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,938,957 (GRCm39) |
H710Q |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,385,731 (GRCm39) |
R13C |
unknown |
Het |
| Ogfod1 |
A |
T |
8: 94,782,299 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
A |
G |
2: 36,311,716 (GRCm39) |
Y102C |
probably benign |
Het |
| Or5b111 |
A |
G |
19: 13,291,490 (GRCm39) |
L53P |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,548 (GRCm39) |
I46T |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,443,932 (GRCm39) |
V324A |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,694,068 (GRCm39) |
I681F |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,095 (GRCm39) |
K325E |
possibly damaging |
Het |
| Psmd7 |
T |
A |
8: 108,313,249 (GRCm39) |
|
probably benign |
Het |
| Rfx2 |
T |
A |
17: 57,115,317 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,141 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,505,875 (GRCm39) |
R1029H |
probably damaging |
Het |
| Septin10 |
A |
G |
10: 59,002,422 (GRCm39) |
V391A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,637 (GRCm39) |
F169L |
probably benign |
Het |
| Slc44a4 |
C |
T |
17: 35,140,674 (GRCm39) |
T289I |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,137 (GRCm39) |
I632V |
probably benign |
Het |
| Srl |
T |
C |
16: 4,315,546 (GRCm39) |
D32G |
probably damaging |
Het |
| Stxbp3-ps |
T |
A |
19: 9,535,256 (GRCm39) |
|
noncoding transcript |
Het |
| Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,504,937 (GRCm39) |
V151A |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,387,589 (GRCm39) |
L84P |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,447 (GRCm39) |
I89N |
probably damaging |
Het |
| Zcwpw1 |
G |
A |
5: 137,795,061 (GRCm39) |
A86T |
probably benign |
Het |
| Zkscan16 |
A |
G |
4: 58,956,690 (GRCm39) |
H324R |
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 |
|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation