Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02301:Fhdc1'

290295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhdc1

Ensembl Gene

ENSMUSG00000041842

Gene Name

FH2 domain containing 1

Synonyms

6330505N24Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

84442198-84480429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84444735 bp (GRCm38)

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]

AlphaFold

Q3ULZ2

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	A	G	17: 32,332,926		probably benign	Het
Alk	T	C	17: 71,874,176	Q1373R	probably damaging	Het
Atf7ip2	T	G	16: 10,211,047	S148A	probably benign	Het
Bpi	C	T	2: 158,274,814	S377F	probably damaging	Het
Ccni	A	T	5: 93,188,175	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,365,993	R90G	probably benign	Het
Ceacam3	C	T	7: 17,163,101	S664F	probably damaging	Het
Clca3a2	A	T	3: 144,806,372	D534E	probably damaging	Het
Ep400	A	T	5: 110,674,960	S2524R	probably damaging	Het
Gart	A	G	16: 91,621,837		probably benign	Het
Gm9513	T	C	9: 36,477,187		probably benign	Het
Gsdmc4	A	G	15: 63,895,264	V219A	probably benign	Het
Hus1	T	C	11: 8,996,915	T261A	probably benign	Het
Lman2l	A	G	1: 36,443,543	I84T	probably damaging	Het
Megf8	G	A	7: 25,337,900	V742M	probably damaging	Het
Myo1d	A	G	11: 80,676,853	V267A	probably benign	Het
Notch2	A	G	3: 98,141,554	T1803A	probably benign	Het
Olfr1278	T	A	2: 111,292,697	M143K	probably benign	Het
Olfr23	T	A	11: 73,941,068	M274K	possibly damaging	Het
Olfr814	A	G	10: 129,874,079	F226S	probably damaging	Het
Pde5a	G	A	3: 122,760,885	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,452,436	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,940,209	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,407,369	T415I	probably damaging	Het
Slc6a6	T	C	6: 91,726,056	Y137H	probably benign	Het
Sptbn1	A	T	11: 30,142,129	D532E	probably damaging	Het
Stk39	T	C	2: 68,211,962	D543G	probably damaging	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Trrap	A	G	5: 144,777,917	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 22,996,357		noncoding transcript	Het
Vwa5b2	G	A	16: 20,604,790	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,496,858	I480N	probably benign	Het
Zfp423	T	C	8: 87,781,574	D714G	probably damaging	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
IGL01778: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
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
R8901:Fhdc1	UTSW	3	84445567	missense	probably benign
R9091:Fhdc1	UTSW	3	84444983	missense	unknown
R9270:Fhdc1	UTSW	3	84444983	missense	unknown
R9361:Fhdc1	UTSW	3	84448833	missense	probably damaging	1.00

Posted On

2015-04-16