Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Fhdc1'

292434

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 #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

84349505-84387736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84352535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 897 (M897L)

Ref Sequence

ENSEMBL: ENSMUSP00000103317 (fasta)

Gene Model

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

AlphaFold

Q3ULZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000091002
AA Change: M897L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: M897L

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

probably benign
Transcript: ENSMUST00000107689
AA Change: M897L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: M897L

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,810,282 (GRCm39)	N227S	probably null	Het
Adgrf5	T	G	17: 43,755,871 (GRCm39)		probably null	Het
Arid2	G	A	15: 96,247,936 (GRCm39)	G116D	possibly damaging	Het
Arsa	T	A	15: 89,358,991 (GRCm39)	H225L	probably damaging	Het
Atf6	T	A	1: 170,574,726 (GRCm39)	K571*	probably null	Het
Bicdl1	A	C	5: 115,801,944 (GRCm39)	L38R	probably damaging	Het
Cct4	T	C	11: 22,952,868 (GRCm39)	S515P	probably damaging	Het
Celsr3	A	C	9: 108,709,318 (GRCm39)	D1388A	probably damaging	Het
Clca3a2	T	C	3: 144,790,777 (GRCm39)	T432A	probably benign	Het
Des	T	A	1: 75,339,372 (GRCm39)		probably null	Het
Dock11	T	A	X: 35,283,739 (GRCm39)	V1119E	probably damaging	Het
Dysf	A	G	6: 84,169,896 (GRCm39)	N1763S	possibly damaging	Het
Emilin1	A	G	5: 31,075,132 (GRCm39)	S458G	possibly damaging	Het
Foxj1	T	C	11: 116,222,829 (GRCm39)	S325G	probably benign	Het
Gm5407	A	G	16: 49,117,250 (GRCm39)		noncoding transcript	Het
Gm6576	T	C	15: 27,026,073 (GRCm39)		noncoding transcript	Het
Hells	G	A	19: 38,953,071 (GRCm39)	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,733,731 (GRCm39)	L30Q	probably damaging	Het
Iqgap1	A	T	7: 80,375,786 (GRCm39)	L1363H	probably damaging	Het
Lrp2	T	C	2: 69,299,977 (GRCm39)	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,063,809 (GRCm39)	R79C	probably damaging	Het
Mical1	G	T	10: 41,360,806 (GRCm39)		probably null	Het
Micu2	A	T	14: 58,161,422 (GRCm39)	V300E	probably damaging	Het
Mmgt2	T	C	11: 62,555,703 (GRCm39)	L17P	probably damaging	Het
Or4p21	A	G	2: 88,277,174 (GRCm39)	I36T	probably benign	Het
Or7c19	T	A	8: 85,957,662 (GRCm39)	C179*	probably null	Het
Or7e177	A	T	9: 20,211,541 (GRCm39)	E15V	probably benign	Het
Pigb	A	G	9: 72,924,714 (GRCm39)	S482P	probably benign	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pou1f1	T	C	16: 65,328,842 (GRCm39)	I187T	probably damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rabgap1	T	C	2: 37,451,962 (GRCm39)	I954T	probably benign	Het
Scube3	T	G	17: 28,383,110 (GRCm39)	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,852,058 (GRCm39)		noncoding transcript	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Tdrd6	T	A	17: 43,935,629 (GRCm39)	R1806S	probably benign	Het
Trpm8	T	A	1: 88,288,438 (GRCm39)	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,013,605 (GRCm39)	R219G	probably damaging	Het
Wdr48	A	G	9: 119,753,826 (GRCm39)	S649G	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
IGL02347:Fhdc1	APN	3	84,352,042 (GRCm39)	missense	possibly damaging	0.66
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