Mutagenetix > Incidental Mutation

Incidental Mutation 'R6706:Fhdc1'

528932

Institutional Source

Beutler Lab

Gene Symbol

Fhdc1

Ensembl Gene

ENSMUSG00000041842

Gene Name

FH2 domain containing 1

Synonyms

6330505N24Rik

MMRRC Submission

044824-MU

Accession Numbers

Essential gene?

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

Stock #

R6706 (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 84353729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 499 (S499G)

Ref Sequence

ENSEMBL: ENSMUSP00000103317 (fasta)

Gene Model

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

AlphaFold

Q3ULZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000091002
AA Change: S499G

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

SMART Domains

Protein: ENSMUSP00000088525
Gene: ENSMUSG00000041842
AA Change: S499G

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: S499G

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

SMART Domains

Protein: ENSMUSP00000103317
Gene: ENSMUSG00000041842
AA Change: S499G

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

0.1470

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,479 (GRCm39)	K389*	probably null	Het
Adam6a	T	G	12: 113,508,886 (GRCm39)	F420V	probably benign	Het
Alpl	T	C	4: 137,473,740 (GRCm39)	T321A	probably benign	Het
Asxl3	A	G	18: 22,586,666 (GRCm39)	D152G	probably damaging	Het
B4galt4	A	G	16: 38,578,173 (GRCm39)	T207A	probably benign	Het
Bsph2	A	T	7: 13,304,972 (GRCm39)	M1K	probably null	Het
Cacna2d1	T	A	5: 16,531,338 (GRCm39)	L535Q	probably damaging	Het
Cacna2d3	T	C	14: 28,846,642 (GRCm39)		probably null	Het
Chrdl2	T	C	7: 99,659,328 (GRCm39)		probably null	Het
Ctdnep1	A	G	11: 69,875,138 (GRCm39)	N54S	probably benign	Het
Dclre1a	A	T	19: 56,533,501 (GRCm39)	D364E	probably benign	Het
Dock1	A	G	7: 134,735,615 (GRCm39)	I1328V	possibly damaging	Het
Eno4	A	T	19: 58,959,112 (GRCm39)	E411D	probably benign	Het
Fbxl14	A	G	6: 119,457,716 (GRCm39)	Y299C	probably benign	Het
Hectd4	C	T	5: 121,458,147 (GRCm39)	T771I	possibly damaging	Het
Kansl3	A	G	1: 36,383,995 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,977 (GRCm39)	H85Y	probably benign	Het
Map3k6	A	T	4: 132,978,250 (GRCm39)	K1031*	probably null	Het
Mfsd4b5	T	A	10: 39,862,413 (GRCm39)	T37S	probably benign	Het
Mgam	T	A	6: 40,721,720 (GRCm39)	V346D	probably benign	Het
Myrip	C	T	9: 120,217,359 (GRCm39)	H98Y	possibly damaging	Het
Nos2	A	G	11: 78,835,549 (GRCm39)	N443D	possibly damaging	Het
Notch2	A	T	3: 98,045,746 (GRCm39)	D1637V	possibly damaging	Het
Or4c35	T	A	2: 89,808,929 (GRCm39)	V269E	probably damaging	Het
Or6z6	G	A	7: 6,491,049 (GRCm39)	R275C	probably damaging	Het
Pank1	C	T	19: 34,789,786 (GRCm39)	G530D	probably damaging	Het
Pde4dip	G	T	3: 97,648,709 (GRCm39)	R1036S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,578,357 (GRCm39)	T247A	probably benign	Het
Rp1	T	A	1: 4,212,887 (GRCm39)	I1067F	unknown	Het
Serpinb9d	T	A	13: 33,380,541 (GRCm39)	N142K	probably benign	Het
Slc12a5	A	G	2: 164,830,509 (GRCm39)	Y639C	probably damaging	Het
Tfap2c	A	G	2: 172,399,276 (GRCm39)	M508V	probably benign	Het
Tmprss11d	T	C	5: 86,478,962 (GRCm39)	N147S	probably benign	Het
Togaram1	T	A	12: 65,049,383 (GRCm39)	N1273K	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Uggt2	T	A	14: 119,308,293 (GRCm39)	I363F	probably damaging	Het
Vmn2r63	T	A	7: 42,578,001 (GRCm39)	D179V	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
R6652:Fhdc1	UTSW	3	84,371,631 (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'- TCCAGGAAGGTCAAAAGCTC -3'
(R):5'- CAGAATCTGTGTGGGATAGGACC -3'

Sequencing Primer
(F):5'- GAAGGTCAAAAGCTCCCGGTC -3'
(R):5'- GATAGGACCCACAGCTGTCTATG -3'

Posted On

2018-07-24