Mutagenetix > Incidental Mutation

Incidental Mutation 'R6652:Fhdc1'

528082

Institutional Source

Beutler Lab

Gene Symbol

Fhdc1

Ensembl Gene

ENSMUSG00000041842

Gene Name

FH2 domain containing 1

Synonyms

6330505N24Rik

MMRRC Submission

044773-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R6652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84349505-84387736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84371631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 108 (Y108C)

Ref Sequence

ENSEMBL: ENSMUSP00000142030 (fasta)

Gene Model

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

AlphaFold

Q3ULZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000091002
AA Change: Y205C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: Y205C

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 damaging
Transcript: ENSMUST00000107689
AA Change: Y205C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: Y205C

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 damaging
Transcript: ENSMUST00000194027
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142030
Gene: ENSMUSG00000041842
AA Change: Y108C

Domain	Start	End	E-Value	Type
Pfam:FH2	1	145	3.8e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,164 (GRCm39)	D605G	probably damaging	Het
Cfh	A	T	1: 140,071,806 (GRCm39)	I294N	probably benign	Het
Clk3	A	G	9: 57,669,078 (GRCm39)	S49P	probably damaging	Het
Cmya5	A	G	13: 93,229,403 (GRCm39)	V1895A	probably benign	Het
Cmya5	T	C	13: 93,229,547 (GRCm39)	D1847G	probably damaging	Het
Cwf19l1	T	C	19: 44,103,138 (GRCm39)	D359G	probably benign	Het
Dag1	A	T	9: 108,086,289 (GRCm39)	M284K	probably damaging	Het
Ergic2	T	C	6: 148,091,079 (GRCm39)	Y211C	probably damaging	Het
Espnl	A	C	1: 91,272,421 (GRCm39)	I594L	probably benign	Het
Fam193b	A	G	13: 55,690,603 (GRCm39)	S226P	probably damaging	Het
Fat2	T	A	11: 55,143,088 (GRCm39)	I4254L	probably benign	Het
Fut9	G	C	4: 25,620,619 (GRCm39)	T65S	probably benign	Het
Gm9507	A	T	10: 77,647,493 (GRCm39)		probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Grap2	A	T	15: 80,532,723 (GRCm39)	N297Y	probably damaging	Het
Igfn1	A	G	1: 135,891,609 (GRCm39)	F2302S	probably damaging	Het
Ighv1-81	T	A	12: 115,884,051 (GRCm39)	I67F	probably damaging	Het
Kidins220	T	A	12: 25,060,059 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,730 (GRCm39)	S215T	probably benign	Het
Mc1r	G	A	8: 124,134,370 (GRCm39)	G41D	probably damaging	Het
Mov10l1	A	G	15: 88,878,105 (GRCm39)	Y129C	probably damaging	Het
Mthfsd	A	T	8: 121,825,560 (GRCm39)	L337Q	probably damaging	Het
Musk	C	T	4: 58,368,977 (GRCm39)	A629V	probably damaging	Het
Nadsyn1	A	T	7: 143,364,955 (GRCm39)	M250K	probably benign	Het
Ncapd2	G	A	6: 125,163,233 (GRCm39)	H92Y	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or6y1	G	A	1: 174,276,627 (GRCm39)	C146Y	probably damaging	Het
Plec	A	T	15: 76,063,974 (GRCm39)	V2100E	probably damaging	Het
Prss37	C	A	6: 40,496,090 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,631 (GRCm39)	E32V	probably damaging	Het
Senp7	C	A	16: 55,944,257 (GRCm39)	Q194K	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Spart	G	A	3: 55,032,248 (GRCm39)	E361K	probably benign	Het
Stn1	T	C	19: 47,496,017 (GRCm39)	T334A	probably benign	Het
Stoml1	A	G	9: 58,164,017 (GRCm39)	D112G	probably damaging	Het
Thap2	T	A	10: 115,212,441 (GRCm39)	D28V	probably damaging	Het
Ubap2	A	T	4: 41,196,743 (GRCm39)	N872K	possibly damaging	Het
Vezt	A	G	10: 93,806,141 (GRCm39)	F757L	probably damaging	Het
Vmn1r204	T	C	13: 22,740,573 (GRCm39)	I68T	probably damaging	Het
Wnt10a	A	G	1: 74,842,613 (GRCm39)		probably null	Het
Yipf7	A	G	5: 69,698,504 (GRCm39)	M1T	probably null	Het
Zdhhc19	T	C	16: 32,316,047 (GRCm39)	F48S	probably damaging	Het
Zfp317	C	T	9: 19,558,335 (GRCm39)	T183I	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
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
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'- AAGCCTGGCTCTTTCTATCG -3'
(R):5'- TCCTCAGAACCCGGAAGAAG -3'

Sequencing Primer
(F):5'- ATTTTGACATGAGACCCTTCTGAC -3'
(R):5'- ACCCGGAAGAAGCAAGC -3'

Posted On

2018-07-24