Incidental Mutation 'R1251:Mfhas1'
ID |
151760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfhas1
|
Ensembl Gene |
ENSMUSG00000070056 |
Gene Name |
malignant fibrous histiocytoma amplified sequence 1 |
Synonyms |
D8Ertd91e, 2310066G09Rik |
MMRRC Submission |
039318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R1251 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
36054952-36146603 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36058207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 894
(Y894C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037666]
|
AlphaFold |
Q3V1N1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037666
AA Change: Y894C
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044135 Gene: ENSMUSG00000070056 AA Change: Y894C
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: Y699C
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,926,989 (GRCm39) |
Y509N |
probably damaging |
Het |
Adcy9 |
T |
A |
16: 4,129,395 (GRCm39) |
E497V |
probably damaging |
Het |
Bcat2 |
T |
G |
7: 45,225,410 (GRCm39) |
L56R |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,498,370 (GRCm39) |
M952V |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,181,181 (GRCm39) |
V2607I |
probably benign |
Het |
Clec18a |
T |
C |
8: 111,808,270 (GRCm39) |
I54V |
possibly damaging |
Het |
Coil |
A |
G |
11: 88,873,125 (GRCm39) |
E455G |
possibly damaging |
Het |
Copg1 |
A |
T |
6: 87,866,989 (GRCm39) |
K75* |
probably null |
Het |
Cyp2j12 |
G |
A |
4: 96,003,903 (GRCm39) |
Q238* |
probably null |
Het |
Eif3i |
T |
C |
4: 129,487,178 (GRCm39) |
E229G |
probably damaging |
Het |
Exoc2 |
T |
A |
13: 31,070,259 (GRCm39) |
N411Y |
probably benign |
Het |
Eya2 |
T |
A |
2: 165,596,404 (GRCm39) |
M305K |
probably damaging |
Het |
Faim |
C |
T |
9: 98,874,687 (GRCm39) |
T78M |
probably damaging |
Het |
Fgg |
T |
A |
3: 82,920,287 (GRCm39) |
D355E |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,249,611 (GRCm39) |
L638P |
probably damaging |
Het |
Grid2ip |
A |
T |
5: 143,371,770 (GRCm39) |
E664D |
possibly damaging |
Het |
Il1rn |
A |
G |
2: 24,235,582 (GRCm39) |
R21G |
probably damaging |
Het |
Ilrun |
C |
T |
17: 28,005,044 (GRCm39) |
|
probably null |
Het |
Inpp4b |
G |
A |
8: 82,617,382 (GRCm39) |
G220R |
probably benign |
Het |
Irx6 |
A |
G |
8: 93,404,881 (GRCm39) |
S250G |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,809,068 (GRCm39) |
I246T |
probably benign |
Het |
Mcm3 |
G |
A |
1: 20,882,896 (GRCm39) |
Q353* |
probably null |
Het |
Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
Necab1 |
A |
G |
4: 15,111,192 (GRCm39) |
|
probably null |
Het |
Nectin3 |
A |
T |
16: 46,284,205 (GRCm39) |
S160T |
possibly damaging |
Het |
Npc2 |
A |
G |
12: 84,807,658 (GRCm39) |
S67P |
probably damaging |
Het |
Or5e1 |
T |
G |
7: 108,354,114 (GRCm39) |
F17C |
probably damaging |
Het |
Or5m9b |
G |
A |
2: 85,905,164 (GRCm39) |
V27M |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
Phf21a |
G |
A |
2: 92,189,544 (GRCm39) |
S601N |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,184,475 (GRCm39) |
V842I |
probably benign |
Het |
Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
Setd1a |
T |
A |
7: 127,396,596 (GRCm39) |
|
probably benign |
Het |
Sgo2a |
A |
T |
1: 58,039,121 (GRCm39) |
|
probably null |
Het |
Sult2a8 |
T |
A |
7: 14,159,350 (GRCm39) |
K90* |
probably null |
Het |
Tlr2 |
T |
C |
3: 83,745,576 (GRCm39) |
D169G |
possibly damaging |
Het |
Tmem95 |
A |
G |
11: 69,767,655 (GRCm39) |
F153S |
probably benign |
Het |
Tube1 |
G |
T |
10: 39,010,204 (GRCm39) |
G10* |
probably null |
Het |
Vmn2r10 |
T |
C |
5: 109,143,890 (GRCm39) |
M687V |
probably benign |
Het |
Zc3h8 |
G |
A |
2: 128,777,289 (GRCm39) |
P117S |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,705,089 (GRCm39) |
D18E |
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 |
|
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 |
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'- TTAAGCCTCATGTCCAGGCCCAAC -3'
(R):5'- AGTGTAGTGCAGTCCAGGCCATTC -3'
Sequencing Primer
(F):5'- AAGATGGGACTCTGTTACTGCC -3'
(R):5'- GCCATTCCTGAAGTAGGACATTC -3'
|
Posted On |
2014-01-29 |