Incidental Mutation 'R4362:Fam219a'
| ID |
324942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam219a
|
| Ensembl Gene |
ENSMUSG00000028439 |
| Gene Name |
family with sequence similarity 219, member A |
| Synonyms |
2310028H24Rik |
| MMRRC Submission |
041671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41517691-41569538 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to T
at 41518844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030152]
[ENSMUST00000095126]
[ENSMUST00000108049]
[ENSMUST00000108050]
[ENSMUST00000108052]
|
| AlphaFold |
Q9D772 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030152
|
| SMART Domains |
Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMRP1
|
1 |
260 |
3.3e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095126
|
| SMART Domains |
Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMRP1
|
1 |
202 |
6.5e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108049
|
| SMART Domains |
Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM219A
|
26 |
157 |
2.7e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108050
|
| SMART Domains |
Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM219A
|
26 |
156 |
8.9e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108052
|
| SMART Domains |
Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM219A
|
37 |
168 |
1.6e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134546
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,687 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
| Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,620,829 (GRCm39) |
P50L |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
| Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
| Icam1 |
A |
G |
9: 20,937,608 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
| Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,452,385 (GRCm39) |
Y375C |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
| Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
probably null |
Het |
|
| Other mutations in Fam219a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Fam219a
|
APN |
4 |
41,521,684 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0607:Fam219a
|
UTSW |
4 |
41,520,242 (GRCm39) |
makesense |
probably null |
|
|
R4659:Fam219a
|
UTSW |
4 |
41,521,645 (GRCm39) |
missense |
probably null |
0.56 |
|
R5438:Fam219a
|
UTSW |
4 |
41,520,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7025:Fam219a
|
UTSW |
4 |
41,521,925 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7563:Fam219a
|
UTSW |
4 |
41,569,208 (GRCm39) |
missense |
probably benign |
|
|
R8389:Fam219a
|
UTSW |
4 |
41,520,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Fam219a
|
UTSW |
4 |
41,520,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9109:Fam219a
|
UTSW |
4 |
41,521,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Fam219a
|
UTSW |
4 |
41,521,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9456:Fam219a
|
UTSW |
4 |
41,521,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTTCAGCCATGGGAGAG -3'
(R):5'- CGCTTGGGAATGAGAATGC -3'
Sequencing Primer
(F):5'- ATGGGAGAGCCACCATCTC -3'
(R):5'- TGAAAGCACAGCCTGGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation