Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Fhod1'

197245

Institutional Source

Beutler Lab

Gene Symbol

Fhod1

Ensembl Gene

ENSMUSG00000014778

Gene Name

formin homology 2 domain containing 1

Synonyms

MMRRC Submission

039809-MU

Accession Numbers

Essential gene?

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

Stock #

R1778 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

106055795-106074585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106056309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 1135 (D1135Y)

Ref Sequence

ENSEMBL: ENSMUSP00000014922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000015000] [ENSMUST00000070508] [ENSMUST00000098453] [ENSMUST00000109372] [ENSMUST00000126705] [ENSMUST00000210801] [ENSMUST00000210412] [ENSMUST00000209964] [ENSMUST00000211199] [ENSMUST00000153146]

AlphaFold

Q6P9Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000014922
AA Change: D1135Y

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

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: D1135Y

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: ENSMUST00000070508

SMART Domains

Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679

Domain	Start	End	E-Value	Type
LRR	42	67	7.15e-2	SMART
LRR	68	93	1.92e-2	SMART
LRR	94	119	1.23e0	SMART
LRR	120	145	1.56e2	SMART

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

probably benign
Transcript: ENSMUST00000210801

Predicted Effect

probably benign
Transcript: ENSMUST00000210412

Predicted Effect

probably benign
Transcript: ENSMUST00000209964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134837

Predicted Effect

probably benign
Transcript: ENSMUST00000211199

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

0.3963

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	C	7: 29,260,131 (GRCm39)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,244,995 (GRCm39)	M119T	probably damaging	Het
Aadacl2	A	G	3: 59,924,871 (GRCm39)		probably null	Het
Abca9	C	T	11: 110,021,542 (GRCm39)	W1056*	probably null	Het
Adam20	A	C	8: 41,249,698 (GRCm39)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 84,656,666 (GRCm39)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,904,638 (GRCm39)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,580,580 (GRCm39)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,602,333 (GRCm39)	E89G	probably benign	Het
Aldh16a1	G	A	7: 44,796,732 (GRCm39)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,372,443 (GRCm39)	K210E	probably benign	Het
Baz2b	T	C	2: 59,836,480 (GRCm39)	T18A	unknown	Het
Bub1	A	C	2: 127,645,042 (GRCm39)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,731,272 (GRCm39)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,741,239 (GRCm39)	P77Q	possibly damaging	Het
Cfap410	G	T	10: 77,818,778 (GRCm39)	A150S	probably benign	Het
Chga	T	A	12: 102,527,959 (GRCm39)	M150K	probably benign	Het
Chmp3	A	G	6: 71,554,791 (GRCm39)	E162G	probably benign	Het
Clip3	A	G	7: 29,996,861 (GRCm39)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,511,867 (GRCm39)		probably benign	Het
Cuedc2	C	T	19: 46,320,079 (GRCm39)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,087,627 (GRCm39)	F428V	probably damaging	Het
Ddx60	A	G	8: 62,427,210 (GRCm39)	I762V	possibly damaging	Het
Def6	G	A	17: 28,439,160 (GRCm39)	R257Q	probably benign	Het
Dkkl1	A	T	7: 44,860,819 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,677,625 (GRCm39)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm39)	R33C	probably benign	Het
Elavl2	T	A	4: 91,141,715 (GRCm39)	Y269F	probably damaging	Het
Esco2	A	G	14: 66,068,711 (GRCm39)	S200P	possibly damaging	Het
Fcrl1	T	A	3: 87,292,626 (GRCm39)		probably benign	Het
Fnbp1l	T	C	3: 122,383,796 (GRCm39)	N41D	possibly damaging	Het
Folh1	A	T	7: 86,410,907 (GRCm39)		probably null	Het
Fpr-rs7	T	C	17: 20,334,277 (GRCm39)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,797,844 (GRCm39)		probably benign	Het
Gm4841	A	T	18: 60,404,020 (GRCm39)	Y24*	probably null	Het
Greb1	G	A	12: 16,740,895 (GRCm39)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,800,590 (GRCm39)	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,152,806 (GRCm39)		probably benign	Het
Ice2	T	C	9: 69,322,930 (GRCm39)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,571,593 (GRCm39)	Q288L	probably damaging	Het
Ift56	T	A	6: 38,386,411 (GRCm39)	D377E	possibly damaging	Het
Ik	T	C	18: 36,889,871 (GRCm39)		probably benign	Het
Kidins220	C	T	12: 25,063,445 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,577,972 (GRCm39)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,697,362 (GRCm39)	T87A	probably damaging	Het
Lama5	G	A	2: 179,837,274 (GRCm39)		probably benign	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Lrig2	A	G	3: 104,374,682 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,845,944 (GRCm39)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,809,908 (GRCm39)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,111,823 (GRCm39)	D565G	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Msrb2	T	A	2: 19,388,114 (GRCm39)	D87E	probably benign	Het
Muc20	T	C	16: 32,614,511 (GRCm39)	T289A	possibly damaging	Het
Myo15a	C	A	11: 60,369,238 (GRCm39)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 108,088,421 (GRCm39)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,348,972 (GRCm39)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,210,738 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,096,793 (GRCm39)	E1334G	probably damaging	Het
Odad2	A	T	18: 7,127,388 (GRCm39)	C942S	probably damaging	Het
Or52e8b	A	T	7: 104,673,370 (GRCm39)	N272K	probably benign	Het
Or5an1c	T	A	19: 12,218,819 (GRCm39)	I69F	probably benign	Het
Or6c6c	T	C	10: 129,541,574 (GRCm39)	Y276H	probably benign	Het
Or9s13	G	A	1: 92,548,342 (GRCm39)	G238E	possibly damaging	Het
Or9s14	A	T	1: 92,535,831 (GRCm39)	N91Y	possibly damaging	Het
P4ha3	A	T	7: 99,949,898 (GRCm39)		probably null	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,710,083 (GRCm39)	Y411N	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Phrf1	T	A	7: 140,812,369 (GRCm39)	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,778,196 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,769,234 (GRCm39)		probably benign	Het
Plxna2	A	G	1: 194,493,278 (GRCm39)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,843,254 (GRCm39)	T183I	probably damaging	Het
Prxl2b	A	T	4: 154,981,814 (GRCm39)	V151D	probably damaging	Het
Ptger4	A	T	15: 5,264,576 (GRCm39)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm39)		probably benign	Het
Rdh7	A	G	10: 127,720,590 (GRCm39)	S261P	probably benign	Het
Reg3a	A	G	6: 78,360,269 (GRCm39)	T150A	probably benign	Het
Rnf111	A	G	9: 70,383,394 (GRCm39)	S180P	probably benign	Het
Rnf17	A	G	14: 56,759,856 (GRCm39)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,085,873 (GRCm39)	Y117*	probably null	Het
Rnps1-ps	A	T	6: 7,983,124 (GRCm39)		noncoding transcript	Het
Rogdi	T	C	16: 4,828,369 (GRCm39)	T165A	probably benign	Het
Rpe65	A	G	3: 159,328,485 (GRCm39)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,494,405 (GRCm39)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm39)	E257D	probably benign	Het
Sim1	C	A	10: 50,857,649 (GRCm39)	C466*	probably null	Het
Spi1	T	A	2: 90,929,867 (GRCm39)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,873,909 (GRCm39)		probably benign	Het
Tbcb	A	G	7: 29,931,037 (GRCm39)	Y28H	probably benign	Het
Tecta	C	T	9: 42,254,927 (GRCm39)	C1752Y	probably damaging	Het
Tep1	T	C	14: 51,067,079 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm39)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Trappc14	T	C	5: 138,260,739 (GRCm39)		probably null	Het
Trim13	G	T	14: 61,843,068 (GRCm39)	A362S	probably benign	Het
Trim47	T	A	11: 116,000,646 (GRCm39)	D134V	probably damaging	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,775,415 (GRCm39)	A222S	possibly damaging	Het
Wdr17	A	G	8: 55,143,249 (GRCm39)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm39)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,751,785 (GRCm39)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,521,788 (GRCm39)	K419R	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTTGCTTAGTCCCAGTGCC -3'
(R):5'- CAGCATGAAGAGCCTGCTTACCAG -3'

Sequencing Primer
(F):5'- TGCACCAGGTCATCTCCAAG -3'
(R):5'- TTACCAGCAGGCCGGAAG -3'

Posted On

2014-05-23