Mutagenetix > Incidental Mutation

Incidental Mutation 'R9214:Mfhas1'

699071

Institutional Source

Beutler Lab

Gene Symbol

Mfhas1

Ensembl Gene

ENSMUSG00000070056

Gene Name

malignant fibrous histiocytoma amplified sequence 1

Synonyms

D8Ertd91e, 2310066G09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R9214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36054952-36146603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36057730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 735 (V735D)

Ref Sequence

ENSEMBL: ENSMUSP00000044135 (fasta)

Gene Model

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

AlphaFold

Q3V1N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000037666
AA Change: V735D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: V735D

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,890,653 (GRCm39)	D352G	probably benign	Het
Abi1	A	T	2: 22,831,989 (GRCm39)	Y447*	probably null	Het
Acot1	A	G	12: 84,064,189 (GRCm39)	Y124C		Het
Adgrf4	T	C	17: 42,978,704 (GRCm39)	N213S	possibly damaging	Het
Alg9	T	A	9: 50,717,545 (GRCm39)	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,109,024 (GRCm39)	T25A	probably benign	Het
Bpifa1	C	A	2: 153,985,789 (GRCm39)	P35T	unknown	Het
Btbd16	T	C	7: 130,381,437 (GRCm39)		probably null	Het
Ccdc187	G	T	2: 26,183,409 (GRCm39)	T197K	probably benign	Het
Cd209b	A	G	8: 3,968,771 (GRCm39)	V295A	probably benign	Het
Cdcp3	C	T	7: 130,824,481 (GRCm39)	S192L	possibly damaging	Het
Clrn2	G	T	5: 45,617,518 (GRCm39)	A130S	probably benign	Het
Cnrip1	A	G	11: 17,004,740 (GRCm39)	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,523,273 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,286,119 (GRCm39)	S278P	probably benign	Het
Dnah12	A	C	14: 26,445,060 (GRCm39)	E654D	probably benign	Het
Efcab7	T	C	4: 99,735,437 (GRCm39)	S154P	probably damaging	Het
Emcn	T	C	3: 137,047,029 (GRCm39)	F10S	probably damaging	Het
Fhip2a	A	G	19: 57,373,756 (GRCm39)	H672R	probably damaging	Het
Flg2	G	T	3: 93,110,884 (GRCm39)	A971S	unknown	Het
Gli2	A	T	1: 118,795,791 (GRCm39)	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,460,359 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,822 (GRCm39)	L846P	probably damaging	Het
Golga7b	A	T	19: 42,255,440 (GRCm39)	I106F	probably damaging	Het
Hltf	T	C	3: 20,140,280 (GRCm39)	S460P	probably benign	Het
Hyal5	A	G	6: 24,876,403 (GRCm39)	Y92C	probably damaging	Het
Kif19b	G	A	5: 140,468,257 (GRCm39)	R649Q	probably benign	Het
Mapk1	T	A	16: 16,853,549 (GRCm39)	C84S	probably benign	Het
Marchf10	A	G	11: 105,281,100 (GRCm39)	V395A	probably benign	Het
Meltf	A	G	16: 31,697,763 (GRCm39)	T7A	probably benign	Het
Mia2	G	T	12: 59,223,150 (GRCm39)	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,327 (GRCm39)	L25P	probably benign	Het
Mprip	C	T	11: 59,650,901 (GRCm39)	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,355,126 (GRCm39)	S233T	possibly damaging	Het
Muc21	T	A	17: 35,931,838 (GRCm39)	S783C	unknown	Het
Nckap5	A	C	1: 125,942,376 (GRCm39)	V1576G	probably benign	Het
Ntng1	T	C	3: 109,841,921 (GRCm39)	Y284C	probably damaging	Het
Numa1	T	A	7: 101,650,139 (GRCm39)	V1290D	probably damaging	Het
Or52l1	T	G	7: 104,829,587 (GRCm39)	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,950,264 (GRCm39)	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,610,107 (GRCm39)	K84E	possibly damaging	Het
Pramel16	T	C	4: 143,675,750 (GRCm39)	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,767 (GRCm39)	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,275,786 (GRCm39)	F33S	probably damaging	Het
Rgs11	A	G	17: 26,427,260 (GRCm39)	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,622,111 (GRCm39)	H277L	probably benign	Het
Ryr1	A	G	7: 28,785,187 (GRCm39)	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,350,641 (GRCm39)	A123T	probably damaging	Het
Smoc2	A	G	17: 14,556,839 (GRCm39)	Y96C	probably damaging	Het
Sqle	A	G	15: 59,194,765 (GRCm39)	E267G	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,067,210 (GRCm39)	N133K	probably benign	Het
Taf7l2	T	C	10: 115,948,903 (GRCm39)	T208A	probably benign	Het
Thoc5	A	T	11: 4,864,303 (GRCm39)	Q320L	probably benign	Het
Tmc4	G	C	7: 3,670,497 (GRCm39)	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,801,031 (GRCm39)	T173A	probably damaging	Het
Tpp2	A	C	1: 44,031,514 (GRCm39)	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,772,941 (GRCm39)	V206A	probably benign	Het
Ulk1	A	T	5: 110,936,663 (GRCm39)	V758E	possibly damaging	Het
Vdr	T	A	15: 97,767,600 (GRCm39)	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,892 (GRCm39)	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,560,991 (GRCm39)	D527G	unknown	Het
Zfp512	C	T	5: 31,637,434 (GRCm39)	R508W	probably damaging	Het
Zfp606	A	G	7: 12,215,026 (GRCm39)	T85A	unknown	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
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
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'- AACTTACACCGAGTCCTGCCTC -3'
(R):5'- CAACCGAATGATGTGGGCTG -3'

Sequencing Primer
(F):5'- AACGACTGTGGCTGAGCTG -3'
(R):5'- TGTGGGCTGGCAGAAGC -3'

Posted On

2022-02-07