Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02314:Mfhas1'

287935

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) question?

Stock #

IGL02314

Quality Score

Status

Chromosome

Chromosomal Location

36054952-36146603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36055927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 134 (R134H)

Ref Sequence

ENSEMBL: ENSMUSP00000044135 (fasta)

Gene Model

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

AlphaFold

Q3V1N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000037666
AA Change: R134H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044135
Gene: ENSMUSG00000070056
AA Change: R134H

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

probably benign
Transcript: ENSMUST00000209953

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg2	T	A	4: 47,472,143 (GRCm39)	K94*	probably null	Het
Axl	A	G	7: 25,486,345 (GRCm39)	F120L	possibly damaging	Het
Baz2b	A	G	2: 59,792,571 (GRCm39)	V519A	probably benign	Het
Cdk2	A	T	10: 128,539,595 (GRCm39)	I99N	probably damaging	Het
Ces1b	C	A	8: 93,791,524 (GRCm39)	W358C	possibly damaging	Het
Cimap1b	T	G	15: 89,262,372 (GRCm39)	K82N	probably damaging	Het
Clca3b	A	G	3: 144,533,903 (GRCm39)		probably benign	Het
Col6a4	T	G	9: 105,874,355 (GRCm39)	T2211P	probably damaging	Het
Cyp4f14	C	T	17: 33,125,265 (GRCm39)	E438K	probably benign	Het
Dpy19l4	T	A	4: 11,267,720 (GRCm39)	T407S	possibly damaging	Het
Dtx3	G	A	10: 127,026,828 (GRCm39)		probably benign	Het
Eif1ad14	T	A	12: 87,886,377 (GRCm39)	Y84F	probably benign	Het
Fat3	A	T	9: 15,881,134 (GRCm39)	L3246H	possibly damaging	Het
Fat4	A	T	3: 38,941,779 (GRCm39)	D224V	probably damaging	Het
Fndc9	A	T	11: 46,129,122 (GRCm39)	I214F	probably benign	Het
Foxred1	A	T	9: 35,117,264 (GRCm39)	I22N	probably damaging	Het
Gkn1	T	C	6: 87,326,103 (GRCm39)	D29G	probably benign	Het
Gng11	T	A	6: 4,004,317 (GRCm39)	M1K	probably null	Het
Hdac7	T	C	15: 97,706,885 (GRCm39)	D237G	probably damaging	Het
Hgf	A	G	5: 16,777,600 (GRCm39)	Y199C	probably damaging	Het
Hgfac	A	T	5: 35,198,941 (GRCm39)	M1L	probably benign	Het
Hsd17b6	T	C	10: 127,833,777 (GRCm39)	T35A	probably damaging	Het
Htr3a	G	A	9: 48,815,927 (GRCm39)	P170L	probably damaging	Het
Ighv12-3	A	G	12: 114,330,421 (GRCm39)	S25P	probably damaging	Het
Jph2	A	T	2: 163,239,273 (GRCm39)	N58K	probably damaging	Het
Lama5	A	G	2: 179,836,275 (GRCm39)		probably benign	Het
Lpin3	T	A	2: 160,740,638 (GRCm39)	Y394*	probably null	Het
Macf1	G	T	4: 123,338,630 (GRCm39)	T2248K	probably damaging	Het
Map3k2	A	G	18: 32,351,553 (GRCm39)		probably benign	Het
Map4k5	G	A	12: 69,865,213 (GRCm39)	P524S	probably benign	Het
Mcf2l	C	T	8: 13,051,851 (GRCm39)	S359L	probably damaging	Het
Mdh1b	C	T	1: 63,750,273 (GRCm39)		probably null	Het
Mogs	A	G	6: 83,095,036 (GRCm39)	T618A	probably benign	Het
Mybpc2	T	A	7: 44,171,812 (GRCm39)	Q39H	possibly damaging	Het
Myoc	C	T	1: 162,466,917 (GRCm39)	R29W	probably damaging	Het
Nae1	A	G	8: 105,252,938 (GRCm39)	M162T	probably damaging	Het
Nfatc3	A	G	8: 106,805,532 (GRCm39)	I126V	probably benign	Het
Nxnl2	C	A	13: 51,325,565 (GRCm39)	F69L	probably benign	Het
Oca2	T	A	7: 56,006,899 (GRCm39)	I662N	probably benign	Het
Or52b3	A	T	7: 102,204,318 (GRCm39)	I276F	probably damaging	Het
Or5w8	A	G	2: 87,688,400 (GRCm39)	N294D	probably damaging	Het
Or7c70	A	T	10: 78,683,099 (GRCm39)	S217T	probably damaging	Het
Or7e176	A	T	9: 20,171,774 (GRCm39)	I213L	probably benign	Het
Pcdhb14	G	A	18: 37,583,248 (GRCm39)	E785K	probably benign	Het
Plb1	A	C	5: 32,438,492 (GRCm39)	Y209S	possibly damaging	Het
Pramel24	T	C	4: 143,455,012 (GRCm39)	S437P	probably benign	Het
Rab44	C	A	17: 29,358,327 (GRCm39)	Q172K	probably benign	Het
Rnf214	A	T	9: 45,811,105 (GRCm39)	V186E	probably benign	Het
Rps6ka1	C	A	4: 133,578,065 (GRCm39)	G522W	probably damaging	Het
Samhd1	G	T	2: 156,976,948 (GRCm39)	T21K	probably damaging	Het
Scly	A	G	1: 91,246,763 (GRCm39)	Y358C	probably benign	Het
Sfxn2	A	G	19: 46,571,026 (GRCm39)	N29D	possibly damaging	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slc44a5	G	A	3: 153,962,156 (GRCm39)	S363N	probably damaging	Het
Smg1	A	G	7: 117,753,932 (GRCm39)		probably benign	Het
Tas1r3	A	T	4: 155,945,119 (GRCm39)	C701S	probably damaging	Het
Tmem87a	A	G	2: 120,234,502 (GRCm39)	S14P	possibly damaging	Het
Trmt6	G	A	2: 132,647,378 (GRCm39)	A486V	probably benign	Het
Ttn	G	A	2: 76,727,091 (GRCm39)	R1602*	probably null	Het
Ush2a	A	G	1: 188,365,826 (GRCm39)	M2227V	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Wdr19	G	T	5: 65,414,463 (GRCm39)	A1279S	probably benign	Het
Zbtb7c	G	A	18: 76,278,937 (GRCm39)	R465H	probably damaging	Het
Zfp473	T	C	7: 44,383,353 (GRCm39)	S326G	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
IGL02093:Mfhas1	APN	8	36,056,498 (GRCm39)	missense	probably damaging	1.00
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