Mutagenetix > Incidental Mutation

Incidental Mutation 'R4294:Fhdc1'

323205

Institutional Source

Beutler Lab

Gene Symbol

Fhdc1

Ensembl Gene

ENSMUSG00000041842

Gene Name

FH2 domain containing 1

Synonyms

6330505N24Rik

MMRRC Submission

041083-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R4294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84349505-84387736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84352133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1031 (V1031F)

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: V1031F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: V1031F

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: V1031F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: V1031F

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

Meta Mutation Damage Score

0.0644

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	T	19: 21,576,113 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,619,543 (GRCm39)	I960M	possibly damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bsnd	C	T	4: 106,342,355 (GRCm39)	R271H	probably benign	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Clip2	A	C	5: 134,521,167 (GRCm39)	V957G	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Cyp3a11	A	T	5: 145,806,005 (GRCm39)	S121T	probably benign	Het
Dlc1	A	G	8: 37,051,907 (GRCm39)	V608A	possibly damaging	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Dock3	T	A	9: 106,807,242 (GRCm39)	R1362W	probably damaging	Het
Gimap8	A	T	6: 48,635,891 (GRCm39)	H552L	probably benign	Het
Gpr151	T	C	18: 42,711,602 (GRCm39)	T359A	probably benign	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Magel2	T	G	7: 62,028,515 (GRCm39)	V473G	possibly damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Nat8f1	T	C	6: 85,887,637 (GRCm39)	T108A	probably benign	Het
Nphp3	T	A	9: 103,899,916 (GRCm39)	L502Q	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Otud7a	A	G	7: 63,346,939 (GRCm39)	D171G	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Rpl27-ps3	T	A	18: 6,332,607 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Setd5	AT	ATT	6: 113,088,281 (GRCm39)		probably benign	Het
Sgsm1	A	G	5: 113,433,270 (GRCm39)	Y182H	probably damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Thrb	C	T	14: 18,011,145 (GRCm38)	Q174*	probably null	Het
Ticam1	A	G	17: 56,578,339 (GRCm39)	I252T	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Trpv1	C	T	11: 73,131,290 (GRCm39)	A276V	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r74	T	A	7: 85,606,624 (GRCm39)	I241F	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGTCCTTGGAGGCAGAATC -3'
(R):5'- AGGAACTTCGGACACTTCGC -3'

Sequencing Primer
(F):5'- AGAATCCTCGGAGCCACCTTTG -3'
(R):5'- TCGAGTGGCAGCATCAGTG -3'

Posted On

2015-06-20