Incidental Mutation 'IGL02093:Mfhas1'
| ID |
279498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.163)
|
| Stock # |
IGL02093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
36054952-36146603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36056498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 324
(N324K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037666]
|
| AlphaFold |
Q3V1N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037666
AA Change: N324K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: N324K
| 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: N129K
|
| Coding Region Coverage |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,160,396 (GRCm39) |
Y41F |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,095,214 (GRCm39) |
Y238H |
probably benign |
Het |
| Ankrd17 |
A |
G |
5: 90,390,822 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,632,119 (GRCm39) |
H49R |
possibly damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,965,360 (GRCm39) |
K34R |
probably damaging |
Het |
| Arsg |
A |
G |
11: 109,416,272 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Arv1 |
C |
A |
8: 125,457,617 (GRCm39) |
L56M |
probably damaging |
Het |
| B3glct |
A |
T |
5: 149,656,150 (GRCm39) |
R194S |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,886,717 (GRCm39) |
Y297F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,936,854 (GRCm39) |
E1552G |
probably damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,987 (GRCm39) |
H140R |
probably damaging |
Het |
| Dock5 |
T |
G |
14: 68,076,992 (GRCm39) |
|
probably benign |
Het |
| Egr2 |
G |
A |
10: 67,375,854 (GRCm39) |
G92D |
probably damaging |
Het |
| Evi2a |
G |
A |
11: 79,418,490 (GRCm39) |
S40L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,309,317 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
A |
9: 61,977,821 (GRCm39) |
T21I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,092,755 (GRCm39) |
S44* |
probably null |
Het |
| Heatr5a |
T |
C |
12: 51,962,858 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,351,933 (GRCm39) |
H337Q |
probably benign |
Het |
| Jhy |
G |
T |
9: 40,856,163 (GRCm39) |
|
probably null |
Het |
| Kat5 |
A |
T |
19: 5,653,903 (GRCm39) |
M427K |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,830,380 (GRCm39) |
P1876S |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,777,667 (GRCm39) |
H104Q |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,548,462 (GRCm39) |
Y84H |
probably damaging |
Het |
| Mageb18 |
T |
A |
X: 91,163,872 (GRCm39) |
K123N |
probably damaging |
Het |
| Nagk |
T |
C |
6: 83,776,352 (GRCm39) |
F189S |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,610,963 (GRCm39) |
M2218K |
probably benign |
Het |
| Nuak2 |
C |
A |
1: 132,259,850 (GRCm39) |
P543T |
probably benign |
Het |
| Or2ag17 |
C |
T |
7: 106,390,030 (GRCm39) |
M59I |
probably benign |
Het |
| Or5bh3 |
C |
T |
X: 49,098,705 (GRCm39) |
M136I |
possibly damaging |
Het |
| Prl8a9 |
T |
C |
13: 27,743,436 (GRCm39) |
Y123C |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,682,867 (GRCm39) |
F220S |
probably damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,530 (GRCm39) |
D135G |
probably benign |
Het |
| Slc39a10 |
C |
T |
1: 46,874,369 (GRCm39) |
R311Q |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,923,016 (GRCm39) |
|
noncoding transcript |
Het |
| Tfrc |
A |
G |
16: 32,449,012 (GRCm39) |
E717G |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,223 (GRCm39) |
N1141K |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,261,467 (GRCm39) |
S606G |
probably damaging |
Het |
| Usp11 |
A |
G |
X: 20,585,591 (GRCm39) |
D827G |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 64,012,130 (GRCm39) |
M664L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,275 (GRCm39) |
M239K |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,188,704 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
G |
A |
11: 50,791,831 (GRCm39) |
P71S |
probably benign |
Het |
| Zhx1 |
T |
A |
15: 57,916,264 (GRCm39) |
T661S |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation