Incidental Mutation 'R5535:Mfhas1'
ID |
434773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfhas1
|
Ensembl Gene |
ENSMUSG00000070056 |
Gene Name |
malignant fibrous histiocytoma amplified sequence 1 |
Synonyms |
D8Ertd91e, 2310066G09Rik |
MMRRC Submission |
043093-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R5535 (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 A
at 36057423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 633
(R633S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037666]
|
AlphaFold |
Q3V1N1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037666
AA Change: R633S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044135 Gene: ENSMUSG00000070056 AA Change: R633S
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: R438S
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
C |
T |
9: 118,977,474 (GRCm39) |
G403S |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,640,350 (GRCm39) |
V699I |
probably benign |
Het |
Amer2 |
AAGGAGGAGGAGGAG |
AAGGAGGAGGAG |
14: 60,616,302 (GRCm39) |
|
probably benign |
Het |
Bace2 |
A |
T |
16: 97,214,625 (GRCm39) |
Q271L |
probably damaging |
Het |
Btn2a2 |
T |
C |
13: 23,662,445 (GRCm39) |
K493E |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,778,196 (GRCm39) |
D222E |
probably benign |
Het |
Ckap2l |
A |
G |
2: 129,127,762 (GRCm39) |
C139R |
probably benign |
Het |
Clip4 |
A |
G |
17: 72,138,257 (GRCm39) |
H485R |
probably benign |
Het |
Cntfr |
T |
A |
4: 41,663,216 (GRCm39) |
D197V |
probably benign |
Het |
Efcab5 |
A |
G |
11: 77,042,747 (GRCm39) |
L2P |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,152,132 (GRCm39) |
V163A |
possibly damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Flrt2 |
A |
G |
12: 95,747,200 (GRCm39) |
T513A |
probably benign |
Het |
Gm10801 |
GT |
GTTTTT |
2: 98,492,844 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
T |
12: 51,849,109 (GRCm39) |
F332I |
probably damaging |
Het |
Helz |
A |
G |
11: 107,536,946 (GRCm39) |
D947G |
probably damaging |
Het |
Hivep2 |
T |
A |
10: 14,006,766 (GRCm39) |
D1121E |
probably benign |
Het |
Hoxa13 |
GG |
GGCG |
6: 52,237,520 (GRCm39) |
|
probably null |
Homo |
Hoxd13 |
A |
T |
2: 74,499,141 (GRCm39) |
Y163F |
probably damaging |
Het |
Immt |
C |
A |
6: 71,829,768 (GRCm39) |
P158Q |
probably null |
Het |
Kcnh5 |
A |
G |
12: 75,177,681 (GRCm39) |
S142P |
possibly damaging |
Het |
Lnpep |
T |
G |
17: 17,758,956 (GRCm39) |
H796P |
probably benign |
Het |
Mmp25 |
A |
G |
17: 23,863,734 (GRCm39) |
L32P |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,937,908 (GRCm39) |
E1739G |
probably damaging |
Het |
Or8b44 |
T |
A |
9: 38,410,294 (GRCm39) |
S110T |
probably benign |
Het |
Parp9 |
A |
G |
16: 35,777,195 (GRCm39) |
K147E |
probably damaging |
Het |
Pcdha3 |
G |
T |
18: 37,080,989 (GRCm39) |
R577L |
probably benign |
Het |
Plod2 |
T |
A |
9: 92,488,622 (GRCm39) |
I637N |
probably damaging |
Het |
Polk |
T |
G |
13: 96,632,005 (GRCm39) |
S243R |
probably damaging |
Het |
Prag1 |
T |
C |
8: 36,571,168 (GRCm39) |
S584P |
probably benign |
Het |
Prex1 |
A |
T |
2: 166,422,193 (GRCm39) |
V43E |
possibly damaging |
Het |
Rdh10 |
T |
C |
1: 16,201,408 (GRCm39) |
Y294H |
probably damaging |
Het |
Rnf126 |
T |
A |
10: 79,598,533 (GRCm39) |
I28F |
probably damaging |
Het |
Sdk2 |
T |
A |
11: 113,833,984 (GRCm39) |
H66L |
possibly damaging |
Het |
Tet1 |
G |
T |
10: 62,668,686 (GRCm39) |
P1431Q |
probably damaging |
Het |
Tmco2 |
T |
A |
4: 120,963,190 (GRCm39) |
Q103L |
possibly damaging |
Het |
Ucp3 |
A |
T |
7: 100,129,873 (GRCm39) |
R172W |
probably benign |
Het |
Unc79 |
A |
T |
12: 103,135,962 (GRCm39) |
I2270F |
possibly 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 |
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'- ATCTAGCCAAGGTGGTGGATG -3'
(R):5'- TAGGAAAGAGCACTCTGGAGCC -3'
Sequencing Primer
(F):5'- CAAGGTGGTGGATGAGGCCC -3'
(R):5'- TCAGTCAGACCTGCCTGCAG -3'
|
Posted On |
2016-10-24 |