Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01744:Fhdc1'

278810

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: 0.323) question?

Stock #

IGL01744

Quality Score

Status

Chromosome

Chromosomal Location

84349505-84387736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84352042 bp (GRCm39)

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
2900092C05Rik	T	C	7: 12,284,459 (GRCm39)	I102T	possibly damaging	Het
4933412E24Rik	C	A	15: 59,887,424 (GRCm39)	A339S	possibly damaging	Het
Ackr2	A	G	9: 121,738,185 (GRCm39)	T187A	probably benign	Het
Adam28	A	G	14: 68,844,956 (GRCm39)	V777A	probably benign	Het
Add3	T	A	19: 53,227,861 (GRCm39)	D515E	probably damaging	Het
Aire	C	A	10: 77,872,557 (GRCm39)	E354*	probably null	Het
AW551984	T	C	9: 39,502,568 (GRCm39)	K670R	probably benign	Het
Bahcc1	T	C	11: 120,162,563 (GRCm39)	V287A	probably benign	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Bub1b	T	A	2: 118,467,230 (GRCm39)	I851N	probably damaging	Het
Ceacam11	A	T	7: 17,707,323 (GRCm39)	I36F	possibly damaging	Het
Copa	A	G	1: 171,940,756 (GRCm39)	E714G	probably benign	Het
Cth	A	T	3: 157,630,572 (GRCm39)	N32K	probably benign	Het
Cyp2a5	T	A	7: 26,540,434 (GRCm39)	M349K	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,966 (GRCm39)	S188G	unknown	Het
Flt1	T	C	5: 147,508,271 (GRCm39)	N1161S	probably benign	Het
Hip1	T	C	5: 135,573,917 (GRCm39)		probably benign	Het
Mapk11	A	G	15: 89,031,046 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,417 (GRCm39)		probably benign	Het
Myo1f	C	A	17: 33,802,654 (GRCm39)		probably benign	Het
Nipsnap1	G	A	11: 4,839,912 (GRCm39)	R211H	probably damaging	Het
Or52ab4	A	G	7: 102,987,435 (GRCm39)	H58R	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdh1	A	T	18: 38,336,302 (GRCm39)	I111N	probably damaging	Het
Piezo2	T	A	18: 63,175,859 (GRCm39)	I1841F	probably damaging	Het
Pirb	G	T	7: 3,720,175 (GRCm39)	Y399*	probably null	Het
Ppp1r36	A	T	12: 76,486,006 (GRCm39)	N388I	possibly damaging	Het
Prr16	A	G	18: 51,436,061 (GRCm39)	D180G	possibly damaging	Het
Prss39	A	G	1: 34,541,280 (GRCm39)		probably null	Het
Spopfm2	T	A	3: 94,083,544 (GRCm39)	K89M	probably damaging	Het
Trank1	T	A	9: 111,178,431 (GRCm39)	V373D	probably damaging	Het
Ubn1	A	G	16: 4,889,923 (GRCm39)	E186G	probably damaging	Het
Zmym2	T	C	14: 57,184,029 (GRCm39)	V997A	probably benign	Het

Other mutations in Fhdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Fhdc1	APN	3	84,356,107 (GRCm39)	missense	probably damaging	1.00
IGL00556:Fhdc1	APN	3	84,364,549 (GRCm39)	missense	possibly damaging	0.81
IGL00951:Fhdc1	APN	3	84,371,620 (GRCm39)	missense	possibly damaging	0.90
IGL01754:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01762:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01764:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01769:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01778:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01779:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL01781:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02243:Fhdc1	APN	3	84,381,947 (GRCm39)	start codon destroyed	possibly damaging	0.89
IGL02260:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02261:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02266:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02271:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02284:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02292:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02296:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02301:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02347:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
IGL02416:Fhdc1	APN	3	84,352,535 (GRCm39)	missense	probably benign	0.03
IGL03189:Fhdc1	APN	3	84,362,368 (GRCm39)	intron	probably benign
IGL03392:Fhdc1	APN	3	84,351,826 (GRCm39)	missense	possibly damaging	0.55
R0125:Fhdc1	UTSW	3	84,352,852 (GRCm39)	missense	probably benign
R0135:Fhdc1	UTSW	3	84,352,925 (GRCm39)	missense	probably damaging	0.97
R0255:Fhdc1	UTSW	3	84,360,817 (GRCm39)	intron	probably benign
R0401:Fhdc1	UTSW	3	84,351,931 (GRCm39)	missense	probably benign	0.02
R1371:Fhdc1	UTSW	3	84,352,310 (GRCm39)	missense	probably damaging	1.00
R1727:Fhdc1	UTSW	3	84,353,483 (GRCm39)	missense	possibly damaging	0.50
R1769:Fhdc1	UTSW	3	84,356,085 (GRCm39)	missense	probably damaging	1.00
R1781:Fhdc1	UTSW	3	84,356,111 (GRCm39)	missense	probably damaging	0.99
R1840:Fhdc1	UTSW	3	84,353,128 (GRCm39)	missense	possibly damaging	0.46
R1970:Fhdc1	UTSW	3	84,362,158 (GRCm39)	missense	probably damaging	1.00
R2038:Fhdc1	UTSW	3	84,351,868 (GRCm39)	missense	probably benign	0.22
R2088:Fhdc1	UTSW	3	84,382,033 (GRCm39)	start gained	probably benign
R2256:Fhdc1	UTSW	3	84,353,353 (GRCm39)	missense	probably benign
R2939:Fhdc1	UTSW	3	84,364,577 (GRCm39)	missense	possibly damaging	0.47
R3813:Fhdc1	UTSW	3	84,371,577 (GRCm39)	critical splice donor site	probably null
R4022:Fhdc1	UTSW	3	84,352,409 (GRCm39)	missense	probably benign	0.01
R4175:Fhdc1	UTSW	3	84,364,294 (GRCm39)	intron	probably benign
R4243:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4245:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4290:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4291:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4292:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4293:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4294:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4295:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4334:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4335:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4342:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4344:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4354:Fhdc1	UTSW	3	84,352,133 (GRCm39)	missense	probably benign	0.42
R4550:Fhdc1	UTSW	3	84,352,483 (GRCm39)	missense	probably benign	0.16
R4626:Fhdc1	UTSW	3	84,381,557 (GRCm39)	missense	probably damaging	1.00
R4925:Fhdc1	UTSW	3	84,360,840 (GRCm39)	missense	probably damaging	1.00
R5155:Fhdc1	UTSW	3	84,353,457 (GRCm39)	missense	probably benign	0.00
R5588:Fhdc1	UTSW	3	84,372,783 (GRCm39)	missense	possibly damaging	0.91
R6043:Fhdc1	UTSW	3	84,356,193 (GRCm39)	missense	probably damaging	0.96
R6063:Fhdc1	UTSW	3	84,353,336 (GRCm39)	missense	probably benign	0.00
R6652:Fhdc1	UTSW	3	84,371,631 (GRCm39)	missense	probably damaging	1.00
R6706:Fhdc1	UTSW	3	84,353,729 (GRCm39)	missense	probably damaging	1.00
R6783:Fhdc1	UTSW	3	84,352,834 (GRCm39)	missense	probably benign	0.00
R6984:Fhdc1	UTSW	3	84,351,823 (GRCm39)	missense	possibly damaging	0.93
R7182:Fhdc1	UTSW	3	84,356,157 (GRCm39)	missense	probably damaging	0.98
R7299:Fhdc1	UTSW	3	84,351,847 (GRCm39)	missense	probably damaging	1.00
R7574:Fhdc1	UTSW	3	84,353,438 (GRCm39)	missense	probably benign
R7765:Fhdc1	UTSW	3	84,351,906 (GRCm39)	missense	probably benign	0.04
R8013:Fhdc1	UTSW	3	84,381,946 (GRCm39)	start codon destroyed	probably null	0.99
R8014:Fhdc1	UTSW	3	84,381,946 (GRCm39)	start codon destroyed	probably null	0.99
R8139:Fhdc1	UTSW	3	84,358,790 (GRCm39)	missense	probably damaging	1.00
R8264:Fhdc1	UTSW	3	84,362,339 (GRCm39)	missense	probably damaging	1.00
R8384:Fhdc1	UTSW	3	84,362,306 (GRCm39)	missense	possibly damaging	0.91
R8901:Fhdc1	UTSW	3	84,352,874 (GRCm39)	missense	probably benign
R9091:Fhdc1	UTSW	3	84,352,290 (GRCm39)	missense	unknown
R9270:Fhdc1	UTSW	3	84,352,290 (GRCm39)	missense	unknown
R9361:Fhdc1	UTSW	3	84,356,140 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16