Incidental Mutation 'R5161:Fam20a'
ID |
397008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam20a
|
Ensembl Gene |
ENSMUSG00000020614 |
Gene Name |
FAM20A, golgi associated secretory pathway pseudokinase |
Synonyms |
|
MMRRC Submission |
042743-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5161 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
109563752-109613989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 109564196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 519
(R519Q)
|
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: R519Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020938 Gene: ENSMUSG00000020614 AA Change: R519Q
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: R519Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116687 Gene: ENSMUSG00000020614 AA Change: R519Q
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGTGGATCCCGTTTGCC -3'
(R):5'- AACACTCTTGCACCTTCAGCTG -3'
Sequencing Primer
(F):5'- GGATCCCGTTTGCCTTTTTCAAAG -3'
(R):5'- TGCTGGCTCAGGCTGACTAC -3'
|
Posted On |
2016-06-21 |