Incidental Mutation 'R4566:Mfhas1'
ID |
343323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfhas1
|
Ensembl Gene |
ENSMUSG00000070056 |
Gene Name |
malignant fibrous histiocytoma amplified sequence 1 |
Synonyms |
D8Ertd91e, 2310066G09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.181)
|
Stock # |
R4566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
36054952-36146603 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36058203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 893
(R893C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037666]
|
AlphaFold |
Q3V1N1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037666
AA Change: R893C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044135 Gene: ENSMUSG00000070056 AA Change: R893C
Domain | Start | End | E-Value | Type |
LRR
|
58 |
81 |
1.97e1 |
SMART |
LRR
|
82 |
105 |
5.72e-1 |
SMART |
LRR
|
106 |
125 |
2.79e1 |
SMART |
LRR
|
130 |
152 |
8.09e-1 |
SMART |
LRR_TYP
|
153 |
175 |
7.78e-3 |
SMART |
LRR
|
176 |
195 |
5.48e0 |
SMART |
LRR
|
199 |
221 |
6.57e-1 |
SMART |
LRR
|
222 |
244 |
3.98e1 |
SMART |
LRR
|
245 |
267 |
1.25e-1 |
SMART |
LRR
|
268 |
290 |
3.27e1 |
SMART |
LRR
|
291 |
313 |
1.43e-1 |
SMART |
LRR
|
314 |
334 |
1.12e1 |
SMART |
LRR_TYP
|
337 |
360 |
4.11e-2 |
SMART |
Pfam:Roc
|
407 |
537 |
6.9e-11 |
PFAM |
low complexity region
|
743 |
750 |
N/A |
INTRINSIC |
low complexity region
|
754 |
761 |
N/A |
INTRINSIC |
low complexity region
|
808 |
820 |
N/A |
INTRINSIC |
Blast:LY
|
1018 |
1038 |
7e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181322
|
Predicted Effect |
unknown
Transcript: ENSMUST00000209953
AA Change: R698C
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
Apol7a |
A |
T |
15: 77,273,951 (GRCm39) |
Y170* |
probably null |
Het |
Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Espnl |
C |
A |
1: 91,272,301 (GRCm39) |
P510T |
possibly damaging |
Het |
Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
Foxq1 |
T |
C |
13: 31,743,471 (GRCm39) |
M191T |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
Ppp2cb |
T |
C |
8: 34,100,723 (GRCm39) |
V48A |
possibly damaging |
Het |
Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
Yy1 |
T |
A |
12: 108,778,889 (GRCm39) |
I296K |
probably damaging |
Het |
|
Other mutations in Mfhas1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00694:Mfhas1
|
APN |
8 |
36,057,925 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00841:Mfhas1
|
APN |
8 |
36,058,040 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01548:Mfhas1
|
APN |
8 |
36,057,613 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02031:Mfhas1
|
APN |
8 |
36,056,526 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02093:Mfhas1
|
APN |
8 |
36,056,498 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02314:Mfhas1
|
APN |
8 |
36,055,927 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02412:Mfhas1
|
APN |
8 |
36,055,969 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02638:Mfhas1
|
APN |
8 |
36,058,104 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02663:Mfhas1
|
APN |
8 |
36,057,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R0545:Mfhas1
|
UTSW |
8 |
36,056,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Mfhas1
|
UTSW |
8 |
36,057,829 (GRCm39) |
missense |
probably benign |
0.00 |
R0637:Mfhas1
|
UTSW |
8 |
36,057,180 (GRCm39) |
nonsense |
probably null |
|
R1251:Mfhas1
|
UTSW |
8 |
36,058,207 (GRCm39) |
missense |
probably damaging |
0.97 |
R1829:Mfhas1
|
UTSW |
8 |
36,057,402 (GRCm39) |
missense |
probably benign |
0.09 |
R1829:Mfhas1
|
UTSW |
8 |
36,057,222 (GRCm39) |
missense |
probably benign |
|
R1839:Mfhas1
|
UTSW |
8 |
36,058,012 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1934:Mfhas1
|
UTSW |
8 |
36,058,251 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1937:Mfhas1
|
UTSW |
8 |
36,056,799 (GRCm39) |
missense |
probably damaging |
0.99 |
R2038:Mfhas1
|
UTSW |
8 |
36,058,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R2982:Mfhas1
|
UTSW |
8 |
36,058,269 (GRCm39) |
missense |
probably benign |
0.07 |
R4604:Mfhas1
|
UTSW |
8 |
36,055,764 (GRCm39) |
missense |
probably benign |
0.00 |
R4693:Mfhas1
|
UTSW |
8 |
36,056,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5205:Mfhas1
|
UTSW |
8 |
36,058,161 (GRCm39) |
missense |
probably benign |
0.10 |
R5535:Mfhas1
|
UTSW |
8 |
36,057,423 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5631:Mfhas1
|
UTSW |
8 |
36,055,573 (GRCm39) |
missense |
probably damaging |
0.96 |
R5744:Mfhas1
|
UTSW |
8 |
36,056,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R6580:Mfhas1
|
UTSW |
8 |
36,056,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R6663:Mfhas1
|
UTSW |
8 |
36,056,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R6998:Mfhas1
|
UTSW |
8 |
36,058,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Mfhas1
|
UTSW |
8 |
36,131,944 (GRCm39) |
missense |
probably benign |
0.00 |
R7054:Mfhas1
|
UTSW |
8 |
36,055,792 (GRCm39) |
missense |
probably benign |
0.30 |
R7171:Mfhas1
|
UTSW |
8 |
36,056,146 (GRCm39) |
missense |
probably benign |
0.08 |
R7396:Mfhas1
|
UTSW |
8 |
36,057,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7557:Mfhas1
|
UTSW |
8 |
36,056,758 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7853:Mfhas1
|
UTSW |
8 |
36,057,025 (GRCm39) |
nonsense |
probably null |
|
R7876:Mfhas1
|
UTSW |
8 |
36,056,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8815:Mfhas1
|
UTSW |
8 |
36,057,394 (GRCm39) |
missense |
probably damaging |
0.99 |
R9009:Mfhas1
|
UTSW |
8 |
36,057,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Mfhas1
|
UTSW |
8 |
36,057,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Mfhas1
|
UTSW |
8 |
36,057,951 (GRCm39) |
missense |
probably benign |
0.01 |
R9573:Mfhas1
|
UTSW |
8 |
36,143,903 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9783:Mfhas1
|
UTSW |
8 |
36,057,934 (GRCm39) |
missense |
probably damaging |
1.00 |
X0060:Mfhas1
|
UTSW |
8 |
36,055,558 (GRCm39) |
missense |
possibly damaging |
0.52 |
Z1088:Mfhas1
|
UTSW |
8 |
36,057,390 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Mfhas1
|
UTSW |
8 |
36,057,539 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGCCTTTGAATGGCTCC -3'
(R):5'- TGAAGTAGGACATTCAGTTCCTCTAC -3'
Sequencing Primer
(F):5'- TTTGAATGGCTCCGCGGC -3'
(R):5'- ATTCAGTTCCTCTACCAAAGGG -3'
|
Posted On |
2015-09-24 |