Incidental Mutation 'R4349:Fra10ac1'
| ID |
328455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fra10ac1
|
| Ensembl Gene |
ENSMUSG00000054237 |
| Gene Name |
FRA10A associated CGG repeat 1 |
| Synonyms |
5730455O13Rik |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38176929-38212604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38188053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 248
(S248P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067167]
|
| AlphaFold |
Q8BP78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067167
AA Change: S248P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: S248P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fra10Ac1
|
104 |
220 |
7e-56 |
PFAM |
|
low complexity region
|
228 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
288 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
probably damaging |
Het |
|
| Other mutations in Fra10ac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00685:Fra10ac1
|
APN |
19 |
38,190,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01784:Fra10ac1
|
APN |
19 |
38,208,125 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03396:Fra10ac1
|
APN |
19 |
38,189,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5090:Fra10ac1
|
UTSW |
19 |
38,202,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Fra10ac1
|
UTSW |
19 |
38,204,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5259:Fra10ac1
|
UTSW |
19 |
38,188,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Fra10ac1
|
UTSW |
19 |
38,207,910 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5768:Fra10ac1
|
UTSW |
19 |
38,195,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6756:Fra10ac1
|
UTSW |
19 |
38,204,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Fra10ac1
|
UTSW |
19 |
38,195,737 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7011:Fra10ac1
|
UTSW |
19 |
38,177,242 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7054:Fra10ac1
|
UTSW |
19 |
38,212,567 (GRCm39) |
start gained |
probably benign |
|
|
R7530:Fra10ac1
|
UTSW |
19 |
38,204,353 (GRCm39) |
nonsense |
probably null |
|
|
R7561:Fra10ac1
|
UTSW |
19 |
38,210,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:Fra10ac1
|
UTSW |
19 |
38,178,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Fra10ac1
|
UTSW |
19 |
38,202,779 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCACTTCGCTTTCAGTTG -3'
(R):5'- TCACTGGATATGAGTTACGTGCTAG -3'
Sequencing Primer
(F):5'- TCGCTTTCAGTTGCTCTAAAAG -3'
(R):5'- TGCATACTCTAGCATGGCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation