Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Fhdc1'

278863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhdc1

Ensembl Gene

ENSMUSG00000041842

Gene Name

FH2 domain containing 1

Synonyms

6330505N24Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

84442198-84480429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84444735 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1061 (A1061V)

Ref Sequence

ENSEMBL: ENSMUSP00000103317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091002] [ENSMUST00000107689] [ENSMUST00000194027]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091002
AA Change: A1061V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: A1061V

Domain	Start	End	E-Value	Type
low complexity region	30	48	N/A	INTRINSIC
low complexity region	55	82	N/A	INTRINSIC
FH2	88	538	5.13e-57	SMART
Blast:FH2	539	571	6e-6	BLAST
low complexity region	789	822	N/A	INTRINSIC
low complexity region	962	976	N/A	INTRINSIC
low complexity region	1009	1026	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107689
AA Change: A1061V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: A1061V

Domain	Start	End	E-Value	Type
low complexity region	30	48	N/A	INTRINSIC
low complexity region	55	82	N/A	INTRINSIC
FH2	88	538	5.13e-57	SMART
Blast:FH2	539	571	6e-6	BLAST
low complexity region	789	822	N/A	INTRINSIC
low complexity region	962	976	N/A	INTRINSIC
low complexity region	1009	1026	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125643

Predicted Effect

probably benign
Transcript: ENSMUST00000194027

SMART Domains

Protein: ENSMUSP00000142030
Gene: ENSMUSG00000041842

Domain	Start	End	E-Value	Type
Pfam:FH2	1	145	3.8e-22	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Fhdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Fhdc1	APN	3	84448800	missense	probably damaging	1.00
IGL00556:Fhdc1	APN	3	84457242	missense	possibly damaging	0.81
IGL00951:Fhdc1	APN	3	84464313	missense	possibly damaging	0.90
IGL01744:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL01754:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL01762:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL01764:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL01769:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL01779:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL01781:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02243:Fhdc1	APN	3	84474640	start codon destroyed	possibly damaging	0.89
IGL02260:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02261:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02266:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02271:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02284:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02292:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02296:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02301:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02347:Fhdc1	APN	3	84444735	missense	possibly damaging	0.66
IGL02416:Fhdc1	APN	3	84445228	missense	probably benign	0.03
IGL03189:Fhdc1	APN	3	84455061	intron	probably benign
IGL03392:Fhdc1	APN	3	84444519	missense	possibly damaging	0.55
R0125:Fhdc1	UTSW	3	84445545	missense	probably benign
R0135:Fhdc1	UTSW	3	84445618	missense	probably damaging	0.97
R0255:Fhdc1	UTSW	3	84453510	intron	probably benign
R0401:Fhdc1	UTSW	3	84444624	missense	probably benign	0.02
R1371:Fhdc1	UTSW	3	84445003	missense	probably damaging	1.00
R1727:Fhdc1	UTSW	3	84446176	missense	possibly damaging	0.50
R1769:Fhdc1	UTSW	3	84448778	missense	probably damaging	1.00
R1781:Fhdc1	UTSW	3	84448804	missense	probably damaging	0.99
R1840:Fhdc1	UTSW	3	84445821	missense	possibly damaging	0.46
R1970:Fhdc1	UTSW	3	84454851	missense	probably damaging	1.00
R2038:Fhdc1	UTSW	3	84444561	missense	probably benign	0.22
R2088:Fhdc1	UTSW	3	84474726	start gained	probably benign
R2256:Fhdc1	UTSW	3	84446046	missense	probably benign
R2939:Fhdc1	UTSW	3	84457270	missense	possibly damaging	0.47
R3813:Fhdc1	UTSW	3	84464270	critical splice donor site	probably null
R4022:Fhdc1	UTSW	3	84445102	missense	probably benign	0.01
R4175:Fhdc1	UTSW	3	84456987	intron	probably benign
R4243:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4245:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4290:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4291:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4292:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4293:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4294:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4295:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4334:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4335:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4342:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4344:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4354:Fhdc1	UTSW	3	84444826	missense	probably benign	0.42
R4550:Fhdc1	UTSW	3	84445176	missense	probably benign	0.16
R4626:Fhdc1	UTSW	3	84474250	missense	probably damaging	1.00
R4925:Fhdc1	UTSW	3	84453533	missense	probably damaging	1.00
R5155:Fhdc1	UTSW	3	84446150	missense	probably benign	0.00
R5588:Fhdc1	UTSW	3	84465476	missense	possibly damaging	0.91
R6043:Fhdc1	UTSW	3	84448886	missense	probably damaging	0.96
R6063:Fhdc1	UTSW	3	84446029	missense	probably benign	0.00
R6652:Fhdc1	UTSW	3	84464324	missense	probably damaging	1.00
R6706:Fhdc1	UTSW	3	84446422	missense	probably damaging	1.00
R6783:Fhdc1	UTSW	3	84445527	missense	probably benign	0.00
R6984:Fhdc1	UTSW	3	84444516	missense	possibly damaging	0.93
R7182:Fhdc1	UTSW	3	84448850	missense	probably damaging	0.98
R7299:Fhdc1	UTSW	3	84444540	missense	probably damaging	1.00
R7574:Fhdc1	UTSW	3	84446131	missense	probably benign
R7765:Fhdc1	UTSW	3	84444599	missense	probably benign	0.04
R8013:Fhdc1	UTSW	3	84474639	start codon destroyed	probably null	0.99
R8014:Fhdc1	UTSW	3	84474639	start codon destroyed	probably null	0.99
R8139:Fhdc1	UTSW	3	84451483	missense	probably damaging	1.00
R8264:Fhdc1	UTSW	3	84455032	missense	probably damaging	1.00
R8384:Fhdc1	UTSW	3	84454999	missense	possibly damaging	0.91

Posted On

2015-04-16