Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01325:Fhod1'

74208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fhod1

Ensembl Gene

ENSMUSG00000014778

Gene Name

formin homology 2 domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

105329163-105347953 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105331649 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 825 (M825K)

Ref Sequence

ENSEMBL: ENSMUSP00000014922 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000014922
AA Change: M825K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: M825K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 60,853,533	T127A	probably damaging	Het
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,064,102	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Asxl2	G	T	12: 3,427,172	R6L	probably damaging	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Kdm7a	T	G	6: 39,158,309		probably benign	Het
Krt76	A	T	15: 101,884,888	S572T	unknown	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,988,618	G270R	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	probably damaging	Het

Other mutations in Fhod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Fhod1	APN	8	105332102	missense	possibly damaging	0.66
IGL01149:Fhod1	APN	8	105347807	unclassified	probably benign
IGL01470:Fhod1	APN	8	105329649	missense	probably damaging	1.00
IGL01521:Fhod1	APN	8	105330423	missense	probably benign	0.17
IGL01861:Fhod1	APN	8	105331176	missense	probably damaging	1.00
IGL02864:Fhod1	APN	8	105337164	unclassified	probably benign
IGL02951:Fhod1	APN	8	105331230	missense	probably damaging	1.00
reactive	UTSW	8	105336434	unclassified	probably benign
treason	UTSW	8	105337350	unclassified	probably benign
R0016:Fhod1	UTSW	8	105331655	missense	possibly damaging	0.91
R0016:Fhod1	UTSW	8	105331655	missense	possibly damaging	0.91
R0071:Fhod1	UTSW	8	105337225	splice site	probably null
R0071:Fhod1	UTSW	8	105337225	splice site	probably null
R0498:Fhod1	UTSW	8	105329856	missense	probably damaging	1.00
R1234:Fhod1	UTSW	8	105337163	unclassified	probably benign
R1465:Fhod1	UTSW	8	105338914	unclassified	probably benign
R1465:Fhod1	UTSW	8	105338914	unclassified	probably benign
R1485:Fhod1	UTSW	8	105336798	critical splice acceptor site	probably null
R1585:Fhod1	UTSW	8	105337325	unclassified	probably benign
R1615:Fhod1	UTSW	8	105347831	unclassified	probably benign
R1778:Fhod1	UTSW	8	105329677	missense	probably damaging	1.00
R1781:Fhod1	UTSW	8	105347789	unclassified	probably benign
R2291:Fhod1	UTSW	8	105336964	unclassified	probably benign
R2864:Fhod1	UTSW	8	105332911	missense	probably null	0.97
R2865:Fhod1	UTSW	8	105332911	missense	probably null	0.97
R3775:Fhod1	UTSW	8	105331638	unclassified	probably benign
R4107:Fhod1	UTSW	8	105338038	unclassified	probably benign
R4422:Fhod1	UTSW	8	105337351	unclassified	probably benign
R4423:Fhod1	UTSW	8	105337351	unclassified	probably benign
R4424:Fhod1	UTSW	8	105337351	unclassified	probably benign
R4425:Fhod1	UTSW	8	105337351	unclassified	probably benign
R4641:Fhod1	UTSW	8	105329592	missense	probably damaging	1.00
R4724:Fhod1	UTSW	8	105337861	unclassified	probably benign
R4757:Fhod1	UTSW	8	105347811	unclassified	probably benign
R5004:Fhod1	UTSW	8	105336945	unclassified	probably benign
R5082:Fhod1	UTSW	8	105330513	missense	probably damaging	1.00
R6033:Fhod1	UTSW	8	105336434	unclassified	probably benign
R6033:Fhod1	UTSW	8	105336434	unclassified	probably benign
R6298:Fhod1	UTSW	8	105337148	unclassified	probably benign
R6320:Fhod1	UTSW	8	105337350	unclassified	probably benign
R6362:Fhod1	UTSW	8	105331641	critical splice donor site	probably null
R6449:Fhod1	UTSW	8	105330237	missense	probably damaging	1.00
R6736:Fhod1	UTSW	8	105337890	unclassified	probably benign
R6816:Fhod1	UTSW	8	105330544	missense	probably benign	0.10
R6955:Fhod1	UTSW	8	105333007	missense	probably benign	0.00
R7073:Fhod1	UTSW	8	105337139	missense	unknown
R7567:Fhod1	UTSW	8	105347837	missense	unknown
R7697:Fhod1	UTSW	8	105347931	unclassified	probably benign
R7789:Fhod1	UTSW	8	105330108	missense	probably damaging	1.00

Posted On

2013-10-07