Mutagenetix > Incidental Mutation

Incidental Mutation 'R8105:Fhod1'

630691

Institutional Source

Beutler Lab

Gene Symbol

Fhod1

Ensembl Gene

ENSMUSG00000014778

Gene Name

formin homology 2 domain containing 1

Synonyms

MMRRC Submission

067536-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R8105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106055795-106074585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106063847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 253 (T253A)

Ref Sequence

ENSEMBL: ENSMUSP00000014922 (fasta)

Gene Model

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

AlphaFold

Q6P9Q4

Predicted Effect

unknown
Transcript: ENSMUST00000014922
AA Change: T253A

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: T253A

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1b	G	A	17: 5,341,518 (GRCm39)	A941T	possibly damaging	Het
Calb1	A	T	4: 15,900,767 (GRCm39)		probably null	Het
Cc2d1b	T	C	4: 108,485,130 (GRCm39)	S518P	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cltc	C	T	11: 86,598,438 (GRCm39)	V975I	probably damaging	Het
Cntn4	T	C	6: 106,330,567 (GRCm39)	W62R	probably damaging	Het
Crot	A	G	5: 9,027,505 (GRCm39)	Y276H	probably damaging	Het
Dnah5	T	C	15: 28,372,548 (GRCm39)	V2933A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fndc3b	G	A	3: 27,524,374 (GRCm39)	T462I	probably benign	Het
Folh1	A	T	7: 86,395,354 (GRCm39)	N359K	probably damaging	Het
Gmppa	T	C	1: 75,413,641 (GRCm39)	V34A	possibly damaging	Het
Ift140	A	G	17: 25,255,949 (GRCm39)	T484A	probably benign	Het
Lrrtm2	T	C	18: 35,346,510 (GRCm39)	E264G	probably damaging	Het
Luc7l2	T	C	6: 38,569,588 (GRCm39)	F182S	probably benign	Het
Ly9	G	C	1: 171,432,890 (GRCm39)		probably null	Het
Meox2	C	T	12: 37,159,061 (GRCm39)	H78Y	possibly damaging	Het
Mynn	G	A	3: 30,665,628 (GRCm39)	C420Y	possibly damaging	Het
Or52e18	C	G	7: 104,609,629 (GRCm39)	M103I	probably benign	Het
Rfx1	C	G	8: 84,814,505 (GRCm39)	A358G	possibly damaging	Het
Rnf151	G	A	17: 24,935,400 (GRCm39)	T177I	probably benign	Het
Spef2	T	G	15: 9,682,748 (GRCm39)	N578H	probably benign	Het
Stpg2	A	G	3: 138,948,925 (GRCm39)	I240M	probably damaging	Het
Tln1	C	T	4: 43,538,231 (GRCm39)	V1824I	probably benign	Het
Ugt3a1	T	A	15: 9,306,476 (GRCm39)	F208L	probably benign	Het
Vldlr	C	T	19: 27,216,204 (GRCm39)	Q342*	probably null	Het
Vmn1r14	T	A	6: 57,211,245 (GRCm39)	F274L	probably benign	Het
Xrcc6	T	C	15: 81,915,352 (GRCm39)	L435P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGAGCATCTGTCACATCATAG -3'
(R):5'- GGAGTATTCCGAGAACAACGC -3'

Sequencing Primer
(F):5'- CTGTCACATCATAGAAGGAGTCCTG -3'
(R):5'- CGGTCAGAGCCTCTCTTT -3'

Posted On

2020-06-30