Mutagenetix > Incidental Mutation

Incidental Mutation 'R1829:Mfhas1'

207116

Institutional Source

Beutler Lab

Gene Symbol

Mfhas1

Ensembl Gene

ENSMUSG00000070056

Gene Name

malignant fibrous histiocytoma amplified sequence 1

Synonyms

2310066G09Rik, D8Ertd91e

MMRRC Submission

039856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R1829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35587798-35679449 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 35590248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 626 (R626G)

Ref Sequence

ENSEMBL: ENSMUSP00000044135 (fasta)

Gene Model

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

AlphaFold

Q3V1N1

Predicted Effect

probably benign
Transcript: ENSMUST00000037666
AA Change: R626G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: R626G

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: R431G

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7420426K07Rik	T	A	9: 98,903,393 (GRCm38)	I37N	possibly damaging	Het
Aars	A	T	8: 111,042,706 (GRCm38)	D287V	probably damaging	Het
Abca12	A	G	1: 71,295,029 (GRCm38)	C1105R	probably benign	Het
Abca8b	T	A	11: 109,942,341 (GRCm38)	N1178Y	probably damaging	Het
Abhd12	A	G	2: 150,843,398 (GRCm38)	L189P	probably damaging	Het
Acap2	G	T	16: 31,110,934 (GRCm38)	N435K	probably damaging	Het
Adam6b	G	T	12: 113,489,925 (GRCm38)	G121C	probably damaging	Het
Adgrb1	C	A	15: 74,580,586 (GRCm38)	C200*	probably null	Het
Agbl5	T	C	5: 30,903,064 (GRCm38)	S730P	possibly damaging	Het
Ahsg	G	A	16: 22,892,328 (GRCm38)		probably benign	Het
Aldh9a1	A	T	1: 167,361,854 (GRCm38)	K390N	probably benign	Het
Alpk2	T	A	18: 65,294,094 (GRCm38)	H1857L	possibly damaging	Het
Apip	T	A	2: 103,088,662 (GRCm38)	N102K	probably benign	Het
Asxl2	T	C	12: 3,457,125 (GRCm38)	S106P	probably damaging	Het
Atp2b2	G	T	6: 113,773,368 (GRCm38)	R677S	probably damaging	Het
Barhl1	A	C	2: 28,909,845 (GRCm38)	M256R	probably damaging	Het
BC025446	T	G	15: 75,216,756 (GRCm38)		probably null	Het
BC052040	G	T	2: 115,642,692 (GRCm38)	R101L	possibly damaging	Het
Cacnb2	A	T	2: 14,985,964 (GRCm38)	Q619L	possibly damaging	Het
Ccdc137	C	T	11: 120,458,212 (GRCm38)	P23L	probably benign	Het
Cdh11	A	T	8: 102,634,641 (GRCm38)	N688K	possibly damaging	Het
Cdh18	C	T	15: 23,173,852 (GRCm38)	P51S	probably damaging	Het
Cfhr1	A	T	1: 139,553,600 (GRCm38)	Y181N	probably damaging	Het
Chmp3	A	G	6: 71,560,939 (GRCm38)	D50G	probably benign	Het
Crem	T	C	18: 3,295,037 (GRCm38)		probably null	Het
Cyb561a3	G	A	19: 10,582,393 (GRCm38)	W27*	probably null	Het
Cyp2d12	C	A	15: 82,558,056 (GRCm38)	N297K	possibly damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnah12	T	C	14: 26,773,023 (GRCm38)	L1346P	probably damaging	Het
Dnah12	T	A	14: 26,800,075 (GRCm38)	N1948K	probably damaging	Het
Dsp	T	G	13: 38,193,195 (GRCm38)	L1652R	probably damaging	Het
Dstyk	G	A	1: 132,449,595 (GRCm38)	S66N	probably benign	Het
Ehhadh	T	C	16: 21,762,178 (GRCm38)	E688G	probably damaging	Het
Emsy	T	A	7: 98,602,729 (GRCm38)	H688L	possibly damaging	Het
Emsy	G	T	7: 98,602,730 (GRCm38)	H688N	possibly damaging	Het
Endod1	A	G	9: 14,356,926 (GRCm38)	L421P	probably damaging	Het
Fam222b	C	T	11: 78,155,035 (GRCm38)	P346L	probably damaging	Het
Fam3c	G	A	6: 22,309,437 (GRCm38)	R182W	probably damaging	Het
Gck	T	C	11: 5,910,984 (GRCm38)	D29G	probably damaging	Het
Gm10320	C	A	13: 98,489,699 (GRCm38)	R59L	probably damaging	Het
Gm11127	G	T	17: 36,058,004 (GRCm38)	F61L	probably damaging	Het
Gm21798	C	T	15: 64,817,826 (GRCm38)		probably benign	Het
Gm9376	A	G	14: 118,267,545 (GRCm38)	T130A	possibly damaging	Het
Gpr153	T	A	4: 152,282,392 (GRCm38)	I334N	possibly damaging	Het
Greb1l	T	C	18: 10,509,314 (GRCm38)	L542P	probably damaging	Het
Hacl1	T	C	14: 31,640,534 (GRCm38)	E52G	probably benign	Het
Ice2	A	G	9: 69,407,353 (GRCm38)	Y128C	probably damaging	Het
Ikzf2	T	A	1: 69,542,287 (GRCm38)	I121L	probably benign	Het
Ipcef1	C	T	10: 6,919,900 (GRCm38)	A167T	probably benign	Het
Jakmip2	T	A	18: 43,582,080 (GRCm38)	D127V	possibly damaging	Het
Jph4	T	C	14: 55,114,911 (GRCm38)	T122A	probably damaging	Het
Kcns2	A	G	15: 34,838,803 (GRCm38)	E104G	probably damaging	Het
Lars2	A	C	9: 123,431,917 (GRCm38)	R384S	probably benign	Het
Lsmem1	T	A	12: 40,185,408 (GRCm38)	H3L	possibly damaging	Het
Lsmem1	G	T	12: 40,185,409 (GRCm38)	H3N	possibly damaging	Het
Mgam	A	G	6: 40,666,892 (GRCm38)	T585A	probably damaging	Het
Mmp25	T	C	17: 23,640,023 (GRCm38)	K185E	probably benign	Het
Mtch1	T	C	17: 29,338,776 (GRCm38)	I243V	probably damaging	Het
Mtcp1	A	T	X: 75,411,665 (GRCm38)	Y25*	probably null	Het
Mybl2	A	G	2: 163,059,583 (GRCm38)	T35A	probably benign	Het
Myh11	T	C	16: 14,223,880 (GRCm38)	E736G	probably damaging	Het
Myh2	T	C	11: 67,176,559 (GRCm38)	I224T	probably damaging	Het
Mymx	T	C	17: 45,601,833 (GRCm38)		probably benign	Het
Nek10	A	G	14: 14,863,454 (GRCm38)		probably null	Het
Nsd1	A	T	13: 55,246,369 (GRCm38)	K697N	probably damaging	Het
Nynrin	A	G	14: 55,872,947 (GRCm38)	D1837G	possibly damaging	Het
Olfr115	G	A	17: 37,610,277 (GRCm38)	T158I	probably benign	Het
Olfr424	T	A	1: 174,137,194 (GRCm38)	I150N	probably benign	Het
Olfr510	T	A	7: 108,667,644 (GRCm38)	I76N	probably benign	Het
Olfr593	A	T	7: 103,211,886 (GRCm38)	T9S	probably benign	Het
Olfr701	A	G	7: 106,819,007 (GRCm38)	H308R	probably benign	Het
Phf19	T	C	2: 34,911,769 (GRCm38)	T10A	probably benign	Het
Pkd1	A	T	17: 24,565,584 (GRCm38)	H368L	probably benign	Het
Plscr2	A	G	9: 92,290,755 (GRCm38)	R156G	probably damaging	Het
Ppp1r42	G	A	1: 10,000,086 (GRCm38)	R61C	probably benign	Het
Pptc7	T	G	5: 122,313,616 (GRCm38)	V45G	probably damaging	Het
Prlhr	G	A	19: 60,467,429 (GRCm38)	T233I	probably damaging	Het
Reps1	C	T	10: 18,107,714 (GRCm38)	T435I	probably damaging	Het
Ret	T	A	6: 118,153,951 (GRCm38)	T1084S	probably damaging	Het
Rgl2	T	A	17: 33,933,621 (GRCm38)	M402K	probably benign	Het
Rp2	A	G	X: 20,376,915 (GRCm38)	K43R	probably benign	Het
Rundc3b	A	T	5: 8,579,117 (GRCm38)	W95R	probably damaging	Het
Samd9l	T	C	6: 3,375,107 (GRCm38)	D718G	possibly damaging	Het
Scnn1b	G	A	7: 121,902,845 (GRCm38)	R242H	probably benign	Het
Smad4	G	T	18: 73,641,894 (GRCm38)	Q445K	probably benign	Het
Smchd1	G	T	17: 71,370,337 (GRCm38)	P1486T	probably damaging	Het
Snx25	G	T	8: 46,035,632 (GRCm38)	N895K	possibly damaging	Het
Sox2	A	G	3: 34,650,741 (GRCm38)	D109G	probably damaging	Het
Stfa2	A	T	16: 36,405,202 (GRCm38)	N38K	probably damaging	Het
Stfa2	C	A	16: 36,405,211 (GRCm38)	E35D	possibly damaging	Het
Stfa3	A	G	16: 36,450,661 (GRCm38)	L87P	probably damaging	Het
Strbp	T	C	2: 37,640,909 (GRCm38)	D111G	possibly damaging	Het
Supt20	C	A	3: 54,727,658 (GRCm38)		probably benign	Het
Svep1	A	G	4: 58,096,310 (GRCm38)	Y1437H	possibly damaging	Het
Tbx4	T	A	11: 85,911,920 (GRCm38)		probably null	Het
Tmem117	A	T	15: 95,094,551 (GRCm38)	N364I	probably damaging	Het
Tmem8	T	C	17: 26,122,220 (GRCm38)	Y766H	probably damaging	Het
Trat1	T	C	16: 48,761,379 (GRCm38)	E45G	probably damaging	Het
Trpc2	G	A	7: 102,084,119 (GRCm38)	D92N	probably damaging	Het
Trpm1	G	A	7: 64,226,782 (GRCm38)	D528N	probably damaging	Het
Ttll9	A	G	2: 153,000,236 (GRCm38)	S337G	possibly damaging	Het
Utrn	A	T	10: 12,475,274 (GRCm38)	I355N	probably damaging	Het
Vangl1	A	G	3: 102,163,466 (GRCm38)	S385P	probably benign	Het
Vmn1r209	A	G	13: 22,806,239 (GRCm38)	S94P	possibly damaging	Het
Vmn2r28	T	A	7: 5,493,811 (GRCm38)	Q14L	probably benign	Het
Vps45	A	G	3: 96,047,245 (GRCm38)		probably null	Het
Wdr48	T	C	9: 119,904,330 (GRCm38)	V81A	probably benign	Het
Xpnpep2	A	G	X: 48,125,353 (GRCm38)	N476S	probably benign	Het
Zbtb41	A	T	1: 139,446,922 (GRCm38)	K707*	probably null	Het
Zfp442	A	C	2: 150,409,063 (GRCm38)	C306W	probably damaging	Het
Zfp811	T	C	17: 32,798,142 (GRCm38)	N307S	possibly damaging	Het
Zfp976	A	G	7: 42,616,311 (GRCm38)	W17R	probably damaging	Het
Zyg11b	T	C	4: 108,266,093 (GRCm38)	T226A	possibly damaging	Het

Other mutations in Mfhas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Mfhas1	APN	8	35,590,771 (GRCm38)	missense	probably benign	0.00
IGL00841:Mfhas1	APN	8	35,590,886 (GRCm38)	missense	probably damaging	0.97
IGL01548:Mfhas1	APN	8	35,590,459 (GRCm38)	missense	probably damaging	1.00
IGL02031:Mfhas1	APN	8	35,589,372 (GRCm38)	missense	probably damaging	0.99
IGL02093:Mfhas1	APN	8	35,589,344 (GRCm38)	missense	probably damaging	1.00
IGL02314:Mfhas1	APN	8	35,588,773 (GRCm38)	missense	probably damaging	0.98
IGL02412:Mfhas1	APN	8	35,588,815 (GRCm38)	missense	probably benign	0.11
IGL02638:Mfhas1	APN	8	35,590,950 (GRCm38)	missense	possibly damaging	0.55
IGL02663:Mfhas1	APN	8	35,589,906 (GRCm38)	missense	probably damaging	0.99
R0545:Mfhas1	UTSW	8	35,589,048 (GRCm38)	missense	probably damaging	1.00
R0619:Mfhas1	UTSW	8	35,590,675 (GRCm38)	missense	probably benign	0.00
R0637:Mfhas1	UTSW	8	35,590,026 (GRCm38)	nonsense	probably null
R1251:Mfhas1	UTSW	8	35,591,053 (GRCm38)	missense	probably damaging	0.97
R1829:Mfhas1	UTSW	8	35,590,068 (GRCm38)	missense	probably benign
R1839:Mfhas1	UTSW	8	35,590,858 (GRCm38)	missense	possibly damaging	0.95
R1934:Mfhas1	UTSW	8	35,591,097 (GRCm38)	missense	possibly damaging	0.52
R1937:Mfhas1	UTSW	8	35,589,645 (GRCm38)	missense	probably damaging	0.99
R2038:Mfhas1	UTSW	8	35,591,277 (GRCm38)	missense	probably damaging	1.00
R2982:Mfhas1	UTSW	8	35,591,115 (GRCm38)	missense	probably benign	0.07
R4566:Mfhas1	UTSW	8	35,591,049 (GRCm38)	missense	probably damaging	1.00
R4604:Mfhas1	UTSW	8	35,588,610 (GRCm38)	missense	probably benign	0.00
R4693:Mfhas1	UTSW	8	35,589,175 (GRCm38)	missense	probably damaging	1.00
R5205:Mfhas1	UTSW	8	35,591,007 (GRCm38)	missense	probably benign	0.10
R5535:Mfhas1	UTSW	8	35,590,269 (GRCm38)	missense	possibly damaging	0.73
R5631:Mfhas1	UTSW	8	35,588,419 (GRCm38)	missense	probably damaging	0.96
R5744:Mfhas1	UTSW	8	35,589,482 (GRCm38)	missense	probably damaging	1.00
R6580:Mfhas1	UTSW	8	35,589,265 (GRCm38)	missense	probably damaging	1.00
R6663:Mfhas1	UTSW	8	35,589,118 (GRCm38)	missense	probably damaging	1.00
R6998:Mfhas1	UTSW	8	35,591,356 (GRCm38)	missense	probably damaging	1.00
R7046:Mfhas1	UTSW	8	35,664,790 (GRCm38)	missense	probably benign	0.00
R7054:Mfhas1	UTSW	8	35,588,638 (GRCm38)	missense	probably benign	0.30
R7171:Mfhas1	UTSW	8	35,588,992 (GRCm38)	missense	probably benign	0.08
R7396:Mfhas1	UTSW	8	35,590,199 (GRCm38)	missense	probably damaging	0.97
R7557:Mfhas1	UTSW	8	35,589,604 (GRCm38)	missense	possibly damaging	0.50
R7853:Mfhas1	UTSW	8	35,589,871 (GRCm38)	nonsense	probably null
R7876:Mfhas1	UTSW	8	35,589,543 (GRCm38)	missense	probably damaging	1.00
R8815:Mfhas1	UTSW	8	35,590,240 (GRCm38)	missense	probably damaging	0.99
R9009:Mfhas1	UTSW	8	35,589,955 (GRCm38)	missense	probably damaging	1.00
R9214:Mfhas1	UTSW	8	35,590,576 (GRCm38)	missense	probably damaging	1.00
R9281:Mfhas1	UTSW	8	35,590,797 (GRCm38)	missense	probably benign	0.01
R9573:Mfhas1	UTSW	8	35,676,749 (GRCm38)	missense	possibly damaging	0.72
R9783:Mfhas1	UTSW	8	35,590,780 (GRCm38)	missense	probably damaging	1.00
X0060:Mfhas1	UTSW	8	35,588,404 (GRCm38)	missense	possibly damaging	0.52
Z1088:Mfhas1	UTSW	8	35,590,236 (GRCm38)	missense	probably benign	0.04
Z1177:Mfhas1	UTSW	8	35,590,385 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GCCTTAGCCATCTAGCCAAG -3'
(R):5'- CTCTCGTGCAGGTAGGAAAG -3'

Sequencing Primer
(F):5'- CATCTAGCCAAGGTGGTGG -3'
(R):5'- TCAGTCAGACCTGCCTGCAG -3'

Posted On

2014-06-23