Incidental Mutation 'R6580:Mfhas1'
| ID |
524086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfhas1
|
| Ensembl Gene |
ENSMUSG00000070056 |
| Gene Name |
malignant fibrous histiocytoma amplified sequence 1 |
| Synonyms |
D8Ertd91e, 2310066G09Rik |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36054952-36146603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36056419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 298
(Y298C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037666]
|
| AlphaFold |
Q3V1N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037666
AA Change: Y298C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: Y298C
| 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: Y103C
|
| Meta Mutation Damage Score |
0.3060 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
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 |
|
R4566:Mfhas1
|
UTSW |
8 |
36,058,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCTCAAGATCCTCTGGCTTAG -3'
(R):5'- AAAGTTGTCCGGCAGCACAG -3'
Sequencing Primer
(F):5'- ATCCTCTGGCTTAGCGGGG -3'
(R):5'- AGCACAGCGATCTGGTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation