Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Mfhas1'

44762

Institutional Source

Beutler Lab

Gene Symbol

Mfhas1

Ensembl Gene

ENSMUSG00000070056

Gene Name

malignant fibrous histiocytoma amplified sequence 1

Synonyms

2310066G09Rik, D8Ertd91e

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35587798-35679449 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35589048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 226 (K226E)

Ref Sequence

ENSEMBL: ENSMUSP00000044135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037666]

AlphaFold

Q3V1N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000037666
AA Change: K226E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: K226E

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: K31E

Meta Mutation Damage Score

0.1177

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Mfhas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Mfhas1	APN	8	35590771	missense	probably benign	0.00
IGL00841:Mfhas1	APN	8	35590886	missense	probably damaging	0.97
IGL01548:Mfhas1	APN	8	35590459	missense	probably damaging	1.00
IGL02031:Mfhas1	APN	8	35589372	missense	probably damaging	0.99
IGL02093:Mfhas1	APN	8	35589344	missense	probably damaging	1.00
IGL02314:Mfhas1	APN	8	35588773	missense	probably damaging	0.98
IGL02412:Mfhas1	APN	8	35588815	missense	probably benign	0.11
IGL02638:Mfhas1	APN	8	35590950	missense	possibly damaging	0.55
IGL02663:Mfhas1	APN	8	35589906	missense	probably damaging	0.99
R0619:Mfhas1	UTSW	8	35590675	missense	probably benign	0.00
R0637:Mfhas1	UTSW	8	35590026	nonsense	probably null
R1251:Mfhas1	UTSW	8	35591053	missense	probably damaging	0.97
R1829:Mfhas1	UTSW	8	35590068	missense	probably benign
R1829:Mfhas1	UTSW	8	35590248	missense	probably benign	0.09
R1839:Mfhas1	UTSW	8	35590858	missense	possibly damaging	0.95
R1934:Mfhas1	UTSW	8	35591097	missense	possibly damaging	0.52
R1937:Mfhas1	UTSW	8	35589645	missense	probably damaging	0.99
R2038:Mfhas1	UTSW	8	35591277	missense	probably damaging	1.00
R2982:Mfhas1	UTSW	8	35591115	missense	probably benign	0.07
R4566:Mfhas1	UTSW	8	35591049	missense	probably damaging	1.00
R4604:Mfhas1	UTSW	8	35588610	missense	probably benign	0.00
R4693:Mfhas1	UTSW	8	35589175	missense	probably damaging	1.00
R5205:Mfhas1	UTSW	8	35591007	missense	probably benign	0.10
R5535:Mfhas1	UTSW	8	35590269	missense	possibly damaging	0.73
R5631:Mfhas1	UTSW	8	35588419	missense	probably damaging	0.96
R5744:Mfhas1	UTSW	8	35589482	missense	probably damaging	1.00
R6580:Mfhas1	UTSW	8	35589265	missense	probably damaging	1.00
R6663:Mfhas1	UTSW	8	35589118	missense	probably damaging	1.00
R6998:Mfhas1	UTSW	8	35591356	missense	probably damaging	1.00
R7046:Mfhas1	UTSW	8	35664790	missense	probably benign	0.00
R7054:Mfhas1	UTSW	8	35588638	missense	probably benign	0.30
R7171:Mfhas1	UTSW	8	35588992	missense	probably benign	0.08
R7396:Mfhas1	UTSW	8	35590199	missense	probably damaging	0.97
R7557:Mfhas1	UTSW	8	35589604	missense	possibly damaging	0.50
R7853:Mfhas1	UTSW	8	35589871	nonsense	probably null
R7876:Mfhas1	UTSW	8	35589543	missense	probably damaging	1.00
R8815:Mfhas1	UTSW	8	35590240	missense	probably damaging	0.99
R9009:Mfhas1	UTSW	8	35589955	missense	probably damaging	1.00
R9214:Mfhas1	UTSW	8	35590576	missense	probably damaging	1.00
R9281:Mfhas1	UTSW	8	35590797	missense	probably benign	0.01
R9573:Mfhas1	UTSW	8	35676749	missense	possibly damaging	0.72
R9783:Mfhas1	UTSW	8	35590780	missense	probably damaging	1.00
X0060:Mfhas1	UTSW	8	35588404	missense	possibly damaging	0.52
Z1088:Mfhas1	UTSW	8	35590236	missense	probably benign	0.04
Z1177:Mfhas1	UTSW	8	35590385	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ATCGGGGACATTGAGGTGCTGAAC -3'
(R):5'- CTGAGGTGAGCTGATTGCGACTAAG -3'

Sequencing Primer
(F):5'- AGCTGGATGTCAGCTTCAAC -3'
(R):5'- CAGCAGGGAACTCCTCGAAG -3'

Posted On

2013-06-11