Incidental Mutation 'IGL01322:Fam20a'
| ID |
74087 |
| 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 # |
IGL01322
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109563752-109613989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109573738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 215
(V215A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020938]
[ENSMUST00000155559]
|
| AlphaFold |
Q8CID3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020938
AA Change: V215A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: V215A
| 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 |
probably damaging
Transcript: ENSMUST00000155559
AA Change: V215A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: V215A
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,336,794 (GRCm39) |
|
probably null |
Het |
| Ano7 |
T |
A |
1: 93,323,230 (GRCm39) |
V497D |
probably benign |
Het |
| B4gat1 |
T |
C |
19: 5,090,037 (GRCm39) |
Y345H |
probably damaging |
Het |
| Bckdha |
T |
A |
7: 25,358,132 (GRCm39) |
R12W |
possibly damaging |
Het |
| Bcl7c |
T |
A |
7: 127,306,608 (GRCm39) |
N93Y |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,846,345 (GRCm39) |
T368K |
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,629,717 (GRCm39) |
Q210* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,872 (GRCm39) |
F2228I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,855,629 (GRCm39) |
S143P |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,039,636 (GRCm39) |
K821N |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,313,898 (GRCm39) |
S648P |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,862,259 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,448,459 (GRCm39) |
V2319A |
probably benign |
Het |
| Gtf3c4 |
T |
C |
2: 28,723,584 (GRCm39) |
D575G |
probably benign |
Het |
| Ifit1bl2 |
A |
G |
19: 34,596,404 (GRCm39) |
V404A |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,349 (GRCm39) |
M291V |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Klra4 |
T |
A |
6: 130,038,985 (GRCm39) |
T136S |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,141,266 (GRCm39) |
I399N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,814,368 (GRCm39) |
E866G |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,363,445 (GRCm39) |
D1206G |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,480 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4z4 |
A |
C |
19: 12,076,769 (GRCm39) |
V78G |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,590 (GRCm39) |
V201E |
probably damaging |
Het |
| Or5b95 |
A |
C |
19: 12,658,113 (GRCm39) |
I214L |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,995 (GRCm39) |
T107A |
probably benign |
Het |
| Pnkd |
A |
G |
1: 74,390,716 (GRCm39) |
N336D |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,571,088 (GRCm39) |
V557A |
probably benign |
Het |
| Ptgfr |
A |
C |
3: 151,541,323 (GRCm39) |
S62A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,842 (GRCm39) |
Y220C |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,439,382 (GRCm39) |
E246K |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,566,604 (GRCm39) |
R124* |
probably null |
Het |
| Sult4a1 |
T |
A |
15: 83,970,817 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Trim15 |
G |
A |
17: 37,175,975 (GRCm39) |
R191W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Usp16 |
T |
C |
16: 87,263,164 (GRCm39) |
V122A |
possibly damaging |
Het |
| Vmn1r122 |
T |
A |
7: 20,868,036 (GRCm39) |
K6N |
probably benign |
Het |
| Vmn1r34 |
G |
A |
6: 66,613,899 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,332 (GRCm39) |
H491L |
possibly damaging |
Het |
| Wdpcp |
T |
C |
11: 21,661,949 (GRCm39) |
L407P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,445,840 (GRCm39) |
I65T |
probably benign |
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 |
|
|
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