Incidental Mutation 'R7557:Mfhas1'
| ID |
584837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfhas1
|
| Ensembl Gene |
ENSMUSG00000070056 |
| Gene Name |
malignant fibrous histiocytoma amplified sequence 1 |
| Synonyms |
D8Ertd91e, 2310066G09Rik |
| MMRRC Submission |
045652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R7557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36054952-36146603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36056758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 411
(M411K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037666]
|
| AlphaFold |
Q3V1N1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037666
AA Change: M411K
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: M411K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,044 (GRCm39) |
Q1078* |
probably null |
Het |
| Aatk |
T |
C |
11: 119,900,256 (GRCm39) |
K1310R |
possibly damaging |
Het |
| Acaa2 |
C |
T |
18: 74,928,230 (GRCm39) |
T153M |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,227,868 (GRCm39) |
T518A |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,359,579 (GRCm39) |
E143G |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,541 (GRCm39) |
T177S |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,391,238 (GRCm39) |
Y32N |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,402 (GRCm39) |
T180A |
probably damaging |
Het |
| Dctn2 |
C |
A |
10: 127,114,273 (GRCm39) |
T373N |
probably benign |
Het |
| Dipk2a |
T |
C |
9: 94,402,591 (GRCm39) |
D357G |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,849,691 (GRCm39) |
Y483H |
possibly damaging |
Het |
| Emb |
T |
A |
13: 117,386,252 (GRCm39) |
N136K |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,773,536 (GRCm39) |
C62S |
probably damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,169,000 (GRCm39) |
A52E |
unknown |
Het |
| Gask1b |
A |
T |
3: 79,793,915 (GRCm39) |
K128* |
probably null |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,548 (GRCm39) |
D253G |
probably damaging |
Het |
| Gps1 |
C |
T |
11: 120,677,193 (GRCm39) |
A164V |
probably benign |
Het |
| Gramd4 |
C |
T |
15: 85,985,101 (GRCm39) |
Q146* |
probably null |
Het |
| Kcnh5 |
A |
T |
12: 75,054,399 (GRCm39) |
M515K |
possibly damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,107 (GRCm39) |
T203A |
probably damaging |
Het |
| Krt26 |
G |
T |
11: 99,225,567 (GRCm39) |
R305S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,630,793 (GRCm39) |
V35A |
|
Het |
| Marf1 |
C |
T |
16: 13,950,560 (GRCm39) |
R942H |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,774,833 (GRCm39) |
S330P |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,817,435 (GRCm39) |
|
probably null |
Het |
| Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,390 (GRCm39) |
I199N |
possibly damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,855,847 (GRCm39) |
C747* |
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,806,183 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
A |
T |
9: 50,536,216 (GRCm39) |
E290D |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,753,848 (GRCm39) |
K1849E |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,372,271 (GRCm39) |
Y74H |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,460,860 (GRCm39) |
I1183S |
probably damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,135,223 (GRCm39) |
S396P |
possibly damaging |
Het |
| Rasa2 |
T |
C |
9: 96,439,478 (GRCm39) |
E575G |
probably damaging |
Het |
| Sec22b |
A |
G |
3: 97,808,674 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc18a1 |
T |
A |
8: 69,518,213 (GRCm39) |
D267V |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
| Tcea1 |
T |
A |
1: 4,965,213 (GRCm39) |
C294* |
probably null |
Het |
| Tut7 |
T |
C |
13: 59,936,280 (GRCm39) |
I1274V |
possibly damaging |
Het |
| Txndc15 |
T |
A |
13: 55,865,767 (GRCm39) |
M77K |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,475 (GRCm39) |
V377D |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,632,394 (GRCm39) |
Y23H |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,394,841 (GRCm39) |
M887K |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,196 (GRCm39) |
N63D |
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 |
|
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 |
|
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'- TGTGCTGCCGGACAACTTTG -3'
(R):5'- AGGGCTGTATCACCTCATAGC -3'
Sequencing Primer
(F):5'- GACAACTTTGGCCAGCTCTC -3'
(R):5'- ATAGCTTTCATCACCGGCTAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation