Mutagenetix > Incidental Mutation

Incidental Mutation 'R2865:Fhod1'

253164

Institutional Source

Beutler Lab

Gene Symbol

Fhod1

Ensembl Gene

ENSMUSG00000014778

Gene Name

formin homology 2 domain containing 1

Synonyms

MMRRC Submission

040454-MU

Accession Numbers

Essential gene?

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

Stock #

R2865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106055795-106074585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106059543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 714 (K714R)

Ref Sequence

ENSEMBL: ENSMUSP00000014922 (fasta)

Gene Model

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

AlphaFold

Q6P9Q4

Predicted Effect

probably null
Transcript: ENSMUST00000014922
AA Change: K714R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: K714R

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

0.3092

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,635 (GRCm39)	Q30R	unknown	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Cic	T	A	7: 24,972,646 (GRCm39)	D792E	probably damaging	Het
Dab1	G	A	4: 104,537,343 (GRCm39)	C192Y	probably benign	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Flt1	T	C	5: 147,531,431 (GRCm39)	Q844R	possibly damaging	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Gm7168	A	G	17: 14,170,117 (GRCm39)	K495E	probably benign	Het
Gria2	C	T	3: 80,639,392 (GRCm39)	V207I	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Igf2r	T	C	17: 12,905,611 (GRCm39)	H2240R	probably damaging	Het
Ighv8-9	G	A	12: 115,432,066 (GRCm39)	P82S	probably benign	Het
Itpr3	T	C	17: 27,310,525 (GRCm39)	V436A	probably benign	Het
Ldb3	T	G	14: 34,251,460 (GRCm39)	D609A	probably damaging	Het
Lgalsl2	G	T	7: 5,362,668 (GRCm39)	D100Y	probably benign	Het
Luc7l	C	A	17: 26,485,335 (GRCm39)	Q112K	probably damaging	Het
Marchf4	C	T	1: 72,491,734 (GRCm39)	R179H	probably damaging	Het
Myt1l	A	G	12: 29,960,788 (GRCm39)	T75A	probably benign	Het
Or5t9	A	T	2: 86,659,198 (GRCm39)	D34V	probably benign	Het
Or8h10	A	T	2: 86,808,805 (GRCm39)	C112S	possibly damaging	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Ppp1r10	A	G	17: 36,239,384 (GRCm39)	T398A	possibly damaging	Het
Ppp4c	A	T	7: 126,391,272 (GRCm39)	I20N	probably damaging	Het
Rph3a	C	T	5: 121,085,990 (GRCm39)	G482D	probably damaging	Het
Rtel1	T	A	2: 180,991,765 (GRCm39)	F388I	probably benign	Het
Slc12a6	G	A	2: 112,177,662 (GRCm39)	V594I	probably benign	Het
Slc2a4	G	A	11: 69,836,942 (GRCm39)	S134F	probably damaging	Het
Tead4	A	T	6: 128,225,062 (GRCm39)		probably null	Het
Usp40	G	A	1: 87,877,701 (GRCm39)	Q1152*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCTAATGAACCCATGACTGGAG -3'
(R):5'- TTTACCCACTCAGCACTTGACG -3'

Sequencing Primer
(F):5'- CCCATGACTGGAGATAAGAGATACAC -3'
(R):5'- AGCACTTGACGGCCCAAG -3'

Posted On

2014-12-04