Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02347:Fhdc1'

289316

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: 0.327) question?

Stock #

IGL02347

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,835 (GRCm39)	K35*	probably null	Het
Adad2	G	T	8: 120,343,408 (GRCm39)	G546V	probably damaging	Het
Bccip	A	G	7: 133,311,105 (GRCm39)	K7E	probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Car12	T	A	9: 66,671,629 (GRCm39)	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,274,681 (GRCm39)	R299C	probably benign	Het
Dnah10	A	C	5: 124,910,487 (GRCm39)		probably null	Het
Eddm13	A	G	7: 6,272,883 (GRCm39)	I79M	possibly damaging	Het
Egf	A	T	3: 129,472,026 (GRCm39)	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,769,600 (GRCm39)	W568R	possibly damaging	Het
Eif1ad14	T	C	12: 87,886,359 (GRCm39)	D90G	probably damaging	Het
Emc3	A	G	6: 113,497,533 (GRCm39)	M106T	possibly damaging	Het
Fam13b	T	C	18: 34,587,757 (GRCm39)	K514E	probably damaging	Het
Frg2f1	A	C	4: 119,387,929 (GRCm39)	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023 (GRCm39)		probably null	Het
Glis3	A	G	19: 28,509,283 (GRCm39)	F234L	probably benign	Het
Grap2	T	C	15: 80,530,557 (GRCm39)		probably benign	Het
H2-M10.2	T	A	17: 36,596,505 (GRCm39)	E113D	probably benign	Het
Itgb6	T	C	2: 60,441,756 (GRCm39)	T685A	probably benign	Het
Mrpl19	A	T	6: 81,938,992 (GRCm39)	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734 (GRCm39)		probably benign	Het
Msr1	G	T	8: 40,085,778 (GRCm39)	T34K	probably damaging	Het
Npc1	C	T	18: 12,332,691 (GRCm39)	V780M	probably benign	Het
Nsun6	A	G	2: 15,034,831 (GRCm39)		probably benign	Het
Nt5c2	A	G	19: 46,912,695 (GRCm39)		probably benign	Het
Nucb2	A	C	7: 116,135,113 (GRCm39)	Q340P	probably benign	Het
Nup50l	A	T	6: 96,142,511 (GRCm39)	Y178N	probably damaging	Het
Or2l13b	A	G	16: 19,349,529 (GRCm39)	L47P	probably damaging	Het
Or3a1b	C	T	11: 74,012,397 (GRCm39)	T94I	probably benign	Het
Osgin1	A	G	8: 120,172,277 (GRCm39)	E357G	probably benign	Het
Pabpc6	C	T	17: 9,887,993 (GRCm39)	R186K	probably benign	Het
Pex1	A	G	5: 3,653,350 (GRCm39)	K83R	probably damaging	Het
Ppid	A	G	3: 79,502,526 (GRCm39)	I82V	probably benign	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rcn1	A	T	2: 105,229,471 (GRCm39)	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,707,629 (GRCm39)		probably benign	Het
Rnf148	A	G	6: 23,654,729 (GRCm39)	V89A	probably benign	Het
Siglecf	G	A	7: 43,001,145 (GRCm39)	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,149,780 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Sos2	A	T	12: 69,643,520 (GRCm39)	D953E	probably benign	Het
Strbp	A	C	2: 37,535,660 (GRCm39)	V16G	probably benign	Het
Sycp1	A	T	3: 102,800,863 (GRCm39)	M567K	probably benign	Het
Tedc2	A	C	17: 24,439,584 (GRCm39)	V19G	probably damaging	Het
Tjp1	A	G	7: 64,950,812 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,539,564 (GRCm39)	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 12,836,574 (GRCm39)	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,316,067 (GRCm39)	T488A	possibly damaging	Het
Zfp541	A	G	7: 15,817,390 (GRCm39)	Y945C	probably damaging	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
IGL01744:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
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
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