Incidental Mutation 'R5981:Frg1'
| ID |
481414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frg1
|
| Ensembl Gene |
ENSMUSG00000031590 |
| Gene Name |
FSHD region gene 1 |
| Synonyms |
|
| MMRRC Submission |
043250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R5981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41850496-41870111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41863307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 104
(D104G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033999]
|
| AlphaFold |
P97376 |
| PDB Structure |
Solution structure of mouse FRG1 protein [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033999
AA Change: D104G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033999
Gene: ENSMUSG00000031590
AA Change: D104G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
|
Pfam:FRG1
|
67 |
256 |
4.2e-82 |
PFAM |
|
Pfam:Fascin
|
92 |
180 |
3.6e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210873
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
| Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
| Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
| Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
| Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
| Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
| Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
Het |
|
| Other mutations in Frg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01541:Frg1
|
APN |
8 |
41,863,362 (GRCm39) |
splice site |
probably benign |
|
|
IGL01562:Frg1
|
APN |
8 |
41,869,946 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03148:Frg1
|
APN |
8 |
41,864,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Frg1
|
UTSW |
8 |
41,852,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1146:Frg1
|
UTSW |
8 |
41,864,254 (GRCm39) |
splice site |
probably benign |
|
|
R2427:Frg1
|
UTSW |
8 |
41,867,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Frg1
|
UTSW |
8 |
41,860,820 (GRCm39) |
splice site |
probably null |
|
|
R4672:Frg1
|
UTSW |
8 |
41,853,846 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7672:Frg1
|
UTSW |
8 |
41,870,040 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Frg1
|
UTSW |
8 |
41,852,675 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACAAGCAGACATTCCCC -3'
(R):5'- GTGACTAAGTTTCATGCAGAACTGTC -3'
Sequencing Primer
(F):5'- TTTGAGACAGGGTTCCATGCAAC -3'
(R):5'- GCAGAACTGTCTTACAAAATATTGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation