Mutagenetix > Incidental Mutation

Incidental Mutation 'R0016:Fhod1'

8293

Institutional Source

Beutler Lab

Gene Symbol

Fhod1

Ensembl Gene

ENSMUSG00000014778

Gene Name

formin homology 2 domain containing 1

Synonyms

MMRRC Submission

038311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R0016 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106055795-106074585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106058287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 823 (E823G)

Ref Sequence

ENSEMBL: ENSMUSP00000014922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000015000] [ENSMUST00000098453] [ENSMUST00000109372] [ENSMUST00000126705] [ENSMUST00000153146]

AlphaFold

Q6P9Q4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014922
AA Change: E823G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: E823G

Domain	Start	End	E-Value	Type
PDB:3DAD\|B	1	339	N/A	PDB
Blast:Drf_GBD	85	216	1e-48	BLAST
SCOP:d1ee4a_	120	240	4e-4	SMART
Blast:FH2	231	318	6e-38	BLAST
low complexity region	342	357	N/A	INTRINSIC
Blast:FH2	386	483	2e-10	BLAST
low complexity region	514	532	N/A	INTRINSIC
low complexity region	573	643	N/A	INTRINSIC
FH2	648	1100	3.16e-121	SMART
low complexity region	1119	1130	N/A	INTRINSIC
Blast:FH2	1135	1179	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000015000

SMART Domains

Protein: ENSMUSP00000015000
Gene: ENSMUSG00000014856

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	171	1.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098453

SMART Domains

Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	103	3.7e-29	PFAM
low complexity region	118	133	N/A	INTRINSIC
low complexity region	135	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109372

SMART Domains

Protein: ENSMUSP00000104997
Gene: ENSMUSG00000014856

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	103	4.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126705

SMART Domains

Protein: ENSMUSP00000138226
Gene: ENSMUSG00000014856

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	100	3e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136439

Predicted Effect

probably benign
Transcript: ENSMUST00000153146

SMART Domains

Protein: ENSMUSP00000138470
Gene: ENSMUSG00000014856

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	100	3e-29	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 81.7%
3x: 74.6%
10x: 53.6%
20x: 32.4%

Validation Efficiency

93% (85/91)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,333,959 (GRCm39)	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,915 (GRCm39)	I291F	probably damaging	Het
Aspm	G	C	1: 139,407,282 (GRCm39)	Q2056H	probably benign	Het
C7	A	T	15: 5,076,406 (GRCm39)	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844 (GRCm39)	Q152L	probably null	Het
Cpne8	A	G	15: 90,385,608 (GRCm39)		probably benign	Het
Cspg4b	T	C	13: 113,502,639 (GRCm39)	Y115H	probably damaging	Het
Cyp2j7	T	A	4: 96,090,384 (GRCm39)	I347F	probably damaging	Het
Dync2h1	A	G	9: 7,144,346 (GRCm39)		probably benign	Het
Echdc1	A	T	10: 29,198,417 (GRCm39)		probably benign	Het
Elovl3	T	A	19: 46,120,597 (GRCm39)	F30Y	probably damaging	Het
Fgd3	C	T	13: 49,450,085 (GRCm39)	D55N	probably benign	Het
Gapvd1	A	G	2: 34,589,925 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Kif27	A	G	13: 58,502,528 (GRCm39)	V50A	probably damaging	Het
Lrp2bp	T	A	8: 46,465,068 (GRCm39)	F62L	probably damaging	Het
Marf1	G	A	16: 13,970,129 (GRCm39)	H197Y	probably damaging	Het
Mon2	C	T	10: 122,871,451 (GRCm39)	V389M	probably damaging	Het
Myh8	A	G	11: 67,189,351 (GRCm39)	K1176E	probably damaging	Het
Nckap1l	A	G	15: 103,384,063 (GRCm39)	T554A	probably benign	Het
Oog3	A	G	4: 143,884,641 (GRCm39)	Y432H	probably damaging	Het
Sorbs1	A	G	19: 40,303,182 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,277,200 (GRCm39)	M349T	possibly damaging	Het
Stc2	A	T	11: 31,310,177 (GRCm39)	D286E	probably benign	Het
Stk31	T	C	6: 49,414,311 (GRCm39)	Y482H	probably damaging	Het
Sycp2l	A	G	13: 41,310,976 (GRCm39)		probably benign	Het
Tasor2	A	C	13: 3,635,170 (GRCm39)		probably null	Het
Trgv5	G	A	13: 19,376,889 (GRCm39)	W112*	probably null	Het
Trim27	A	T	13: 21,375,399 (GRCm39)	E310V	probably benign	Het
Uvrag	T	C	7: 98,641,188 (GRCm39)	K284R	probably benign	Het
Xylt2	A	G	11: 94,560,466 (GRCm39)	S270P	probably damaging	Het
Zwint	T	C	10: 72,493,030 (GRCm39)		probably benign	Het

Other mutations in Fhod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Fhod1	APN	8	106,058,734 (GRCm39)	missense	possibly damaging	0.66
IGL01149:Fhod1	APN	8	106,074,439 (GRCm39)	unclassified	probably benign
IGL01325:Fhod1	APN	8	106,058,281 (GRCm39)	missense	probably benign	0.33
IGL01470:Fhod1	APN	8	106,056,281 (GRCm39)	missense	probably damaging	1.00
IGL01521:Fhod1	APN	8	106,057,055 (GRCm39)	missense	probably benign	0.17
IGL01861:Fhod1	APN	8	106,057,808 (GRCm39)	missense	probably damaging	1.00
IGL02864:Fhod1	APN	8	106,063,796 (GRCm39)	unclassified	probably benign
IGL02951:Fhod1	APN	8	106,057,862 (GRCm39)	missense	probably damaging	1.00
reactive	UTSW	8	106,063,066 (GRCm39)	unclassified	probably benign
treason	UTSW	8	106,063,982 (GRCm39)	unclassified	probably benign
R0016:Fhod1	UTSW	8	106,058,287 (GRCm39)	missense	possibly damaging	0.91
R0071:Fhod1	UTSW	8	106,063,857 (GRCm39)	splice site	probably null
R0071:Fhod1	UTSW	8	106,063,857 (GRCm39)	splice site	probably null
R0498:Fhod1	UTSW	8	106,056,488 (GRCm39)	missense	probably damaging	1.00
R1234:Fhod1	UTSW	8	106,063,795 (GRCm39)	unclassified	probably benign
R1465:Fhod1	UTSW	8	106,065,546 (GRCm39)	unclassified	probably benign
R1465:Fhod1	UTSW	8	106,065,546 (GRCm39)	unclassified	probably benign
R1485:Fhod1	UTSW	8	106,063,430 (GRCm39)	critical splice acceptor site	probably null
R1585:Fhod1	UTSW	8	106,063,957 (GRCm39)	unclassified	probably benign
R1615:Fhod1	UTSW	8	106,074,463 (GRCm39)	unclassified	probably benign
R1778:Fhod1	UTSW	8	106,056,309 (GRCm39)	missense	probably damaging	1.00
R1781:Fhod1	UTSW	8	106,074,421 (GRCm39)	unclassified	probably benign
R2291:Fhod1	UTSW	8	106,063,596 (GRCm39)	unclassified	probably benign
R2864:Fhod1	UTSW	8	106,059,543 (GRCm39)	missense	probably null	0.97
R2865:Fhod1	UTSW	8	106,059,543 (GRCm39)	missense	probably null	0.97
R3775:Fhod1	UTSW	8	106,058,270 (GRCm39)	unclassified	probably benign
R4107:Fhod1	UTSW	8	106,064,670 (GRCm39)	unclassified	probably benign
R4422:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4423:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4424:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4425:Fhod1	UTSW	8	106,063,983 (GRCm39)	unclassified	probably benign
R4641:Fhod1	UTSW	8	106,056,224 (GRCm39)	missense	probably damaging	1.00
R4724:Fhod1	UTSW	8	106,064,493 (GRCm39)	unclassified	probably benign
R4757:Fhod1	UTSW	8	106,074,443 (GRCm39)	unclassified	probably benign
R5004:Fhod1	UTSW	8	106,063,577 (GRCm39)	unclassified	probably benign
R5082:Fhod1	UTSW	8	106,057,145 (GRCm39)	missense	probably damaging	1.00
R6033:Fhod1	UTSW	8	106,063,066 (GRCm39)	unclassified	probably benign
R6033:Fhod1	UTSW	8	106,063,066 (GRCm39)	unclassified	probably benign
R6298:Fhod1	UTSW	8	106,063,780 (GRCm39)	unclassified	probably benign
R6320:Fhod1	UTSW	8	106,063,982 (GRCm39)	unclassified	probably benign
R6362:Fhod1	UTSW	8	106,058,273 (GRCm39)	critical splice donor site	probably null
R6449:Fhod1	UTSW	8	106,056,869 (GRCm39)	missense	probably damaging	1.00
R6736:Fhod1	UTSW	8	106,064,522 (GRCm39)	unclassified	probably benign
R6816:Fhod1	UTSW	8	106,057,176 (GRCm39)	missense	probably benign	0.10
R6955:Fhod1	UTSW	8	106,059,639 (GRCm39)	missense	probably benign	0.00
R7073:Fhod1	UTSW	8	106,063,771 (GRCm39)	missense	unknown
R7567:Fhod1	UTSW	8	106,074,469 (GRCm39)	missense	unknown
R7697:Fhod1	UTSW	8	106,074,563 (GRCm39)	unclassified	probably benign
R7789:Fhod1	UTSW	8	106,056,740 (GRCm39)	missense	probably damaging	1.00
R7894:Fhod1	UTSW	8	106,057,789 (GRCm39)	missense	probably damaging	1.00
R8105:Fhod1	UTSW	8	106,063,847 (GRCm39)	missense	unknown
R8835:Fhod1	UTSW	8	106,065,484 (GRCm39)	critical splice donor site	probably null
R9200:Fhod1	UTSW	8	106,058,072 (GRCm39)	missense	probably benign	0.03
R9266:Fhod1	UTSW	8	106,065,531 (GRCm39)	missense	unknown
R9426:Fhod1	UTSW	8	106,056,490 (GRCm39)	missense	probably benign	0.31
R9429:Fhod1	UTSW	8	106,057,139 (GRCm39)	missense	probably damaging	1.00
R9507:Fhod1	UTSW	8	106,064,694 (GRCm39)	nonsense	probably null
R9562:Fhod1	UTSW	8	106,074,422 (GRCm39)	missense	unknown
R9566:Fhod1	UTSW	8	106,064,516 (GRCm39)	missense	unknown
R9736:Fhod1	UTSW	8	106,059,597 (GRCm39)	missense	probably damaging	1.00
R9739:Fhod1	UTSW	8	106,064,378 (GRCm39)	missense	unknown
R9746:Fhod1	UTSW	8	106,064,048 (GRCm39)	missense	unknown
R9748:Fhod1	UTSW	8	106,058,323 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-21