Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Fhad1'

438704

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated (FHA) phosphopeptide binding domain 1

Synonyms

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141890438-142015082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141905131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1232 (M1232I)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105779] [ENSMUST00000105780]

AlphaFold

A6PWD2

Predicted Effect

probably benign
Transcript: ENSMUST00000105779
AA Change: M1232I

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: M1232I

Domain	Start	End	E-Value	Type
FHA	17	69	8.41e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
coiled coil region	307	434	N/A	INTRINSIC
coiled coil region	640	915	N/A	INTRINSIC
low complexity region	1091	1102	N/A	INTRINSIC
coiled coil region	1111	1140	N/A	INTRINSIC
coiled coil region	1255	1339	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105780
AA Change: M1232I

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: M1232I

Domain	Start	End	E-Value	Type
FHA	17	69	8.41e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
coiled coil region	307	434	N/A	INTRINSIC
coiled coil region	640	915	N/A	INTRINSIC
low complexity region	1091	1102	N/A	INTRINSIC
coiled coil region	1111	1140	N/A	INTRINSIC
coiled coil region	1255	1339	N/A	INTRINSIC

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	Het

Other mutations in Fhad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Fhad1	APN	4	141905612	missense	probably benign	0.02
IGL01478:Fhad1	APN	4	141951638	missense	possibly damaging	0.84
IGL01752:Fhad1	APN	4	141972899	missense	possibly damaging	0.82
IGL01788:Fhad1	APN	4	141932802	missense	probably benign	0.00
IGL01919:Fhad1	APN	4	141964595	missense	probably damaging	0.96
IGL02489:Fhad1	APN	4	141957620	missense	probably damaging	0.97
IGL02568:Fhad1	APN	4	141932794	missense	probably null	1.00
IGL02583:Fhad1	APN	4	142011644	utr 5 prime	probably benign
IGL02716:Fhad1	APN	4	141918331	missense	possibly damaging	0.89
IGL02819:Fhad1	APN	4	141918758	missense	probably benign	0.23
IGL02820:Fhad1	APN	4	141918758	missense	probably benign	0.23
IGL03038:Fhad1	APN	4	142002494	missense	probably benign	0.38
IGL03167:Fhad1	APN	4	141972797	missense	probably benign	0.00
IGL03255:Fhad1	APN	4	141972880	missense	possibly damaging	0.79
R4466_Fhad1_343	UTSW	4	141957658	missense	probably damaging	1.00
R4831_Fhad1_494	UTSW	4	141916067	splice site	probably null
R5504_Fhad1_818	UTSW	4	141985535	missense	probably benign
BB002:Fhad1	UTSW	4	141954187	missense	probably damaging	0.97
BB012:Fhad1	UTSW	4	141954187	missense	probably damaging	0.97
PIT1430001:Fhad1	UTSW	4	141909749	missense	probably damaging	0.99
R0014:Fhad1	UTSW	4	141928408	missense	probably damaging	1.00
R0116:Fhad1	UTSW	4	141940095	missense	probably benign	0.06
R0143:Fhad1	UTSW	4	141929646	splice site	probably benign
R0178:Fhad1	UTSW	4	141955340	missense	probably benign	0.31
R0308:Fhad1	UTSW	4	141985593	splice site	probably benign
R0384:Fhad1	UTSW	4	142002426	missense	probably benign
R0583:Fhad1	UTSW	4	141903990	missense	probably benign	0.37
R1501:Fhad1	UTSW	4	141964625	missense	probably benign
R1584:Fhad1	UTSW	4	141985511	missense	probably benign	0.22
R1615:Fhad1	UTSW	4	141922323	missense	probably damaging	0.99
R1991:Fhad1	UTSW	4	141982162	missense	possibly damaging	0.75
R2060:Fhad1	UTSW	4	141899249	missense	probably benign	0.08
R2079:Fhad1	UTSW	4	141991202	nonsense	probably null
R2133:Fhad1	UTSW	4	141928400	missense	probably damaging	1.00
R2337:Fhad1	UTSW	4	141922344	missense	possibly damaging	0.84
R2843:Fhad1	UTSW	4	141904968	missense	probably benign	0.06
R2844:Fhad1	UTSW	4	141904968	missense	probably benign	0.06
R2845:Fhad1	UTSW	4	141904968	missense	probably benign	0.06
R2846:Fhad1	UTSW	4	141904968	missense	probably benign	0.06
R2866:Fhad1	UTSW	4	141920788	missense	probably benign	0.00
R3119:Fhad1	UTSW	4	141918307	frame shift	probably null
R3760:Fhad1	UTSW	4	141909813	missense	probably damaging	1.00
R4180:Fhad1	UTSW	4	141985543	missense	possibly damaging	0.69
R4466:Fhad1	UTSW	4	141957658	missense	probably damaging	1.00
R4627:Fhad1	UTSW	4	141896468	missense	possibly damaging	0.47
R4680:Fhad1	UTSW	4	142011547	nonsense	probably null
R4725:Fhad1	UTSW	4	141928378	critical splice donor site	probably null
R4755:Fhad1	UTSW	4	141928483	missense	probably damaging	1.00
R4831:Fhad1	UTSW	4	141916067	splice site	probably null
R4909:Fhad1	UTSW	4	141985511	missense	probably benign	0.01
R4968:Fhad1	UTSW	4	141918307	missense	probably damaging	1.00
R5004:Fhad1	UTSW	4	142002599	critical splice acceptor site	probably null
R5036:Fhad1	UTSW	4	141920741	missense	probably benign	0.03
R5048:Fhad1	UTSW	4	141964676	critical splice acceptor site	probably null
R5416:Fhad1	UTSW	4	141918802	missense	probably benign	0.39
R5504:Fhad1	UTSW	4	141985535	missense	probably benign
R5692:Fhad1	UTSW	4	141963457	missense	probably benign	0.00
R5706:Fhad1	UTSW	4	141954116	missense	probably damaging	1.00
R5773:Fhad1	UTSW	4	141929570	missense	probably damaging	0.99
R5823:Fhad1	UTSW	4	141955306	missense	possibly damaging	0.84
R5833:Fhad1	UTSW	4	142002527	missense	probably damaging	1.00
R6170:Fhad1	UTSW	4	141890952	nonsense	probably null
R6286:Fhad1	UTSW	4	141920898	missense	probably damaging	1.00
R6610:Fhad1	UTSW	4	141916396	missense	possibly damaging	0.94
R6755:Fhad1	UTSW	4	141964604	missense	probably damaging	1.00
R7006:Fhad1	UTSW	4	141918291	frame shift	probably null
R7008:Fhad1	UTSW	4	141918291	frame shift	probably null
R7012:Fhad1	UTSW	4	141918291	frame shift	probably null
R7014:Fhad1	UTSW	4	141918291	frame shift	probably null
R7058:Fhad1	UTSW	4	141918291	frame shift	probably null
R7059:Fhad1	UTSW	4	141918291	frame shift	probably null
R7060:Fhad1	UTSW	4	141918291	frame shift	probably null
R7159:Fhad1	UTSW	4	141951616	missense	probably benign	0.01
R7472:Fhad1	UTSW	4	141964626	missense	probably benign
R7670:Fhad1	UTSW	4	141951491	missense	probably benign	0.01
R7694:Fhad1	UTSW	4	141905064	missense	probably benign	0.41
R7745:Fhad1	UTSW	4	141890939	missense	probably benign	0.00
R7848:Fhad1	UTSW	4	141905602	missense	probably benign	0.29
R7853:Fhad1	UTSW	4	141909823	missense	probably damaging	0.99
R7867:Fhad1	UTSW	4	141905591	missense	probably benign	0.00
R7925:Fhad1	UTSW	4	141954187	missense	probably damaging	0.97
R8089:Fhad1	UTSW	4	141957660	missense	probably damaging	1.00
R8123:Fhad1	UTSW	4	141985525	missense	probably benign	0.02
R8711:Fhad1	UTSW	4	141957613	missense	probably benign	0.25
R8751:Fhad1	UTSW	4	141918823	missense	probably benign	0.04
R8783:Fhad1	UTSW	4	141909092	missense	probably benign	0.02
R8858:Fhad1	UTSW	4	141939028	missense	possibly damaging	0.87
R8867:Fhad1	UTSW	4	141929574	missense	probably damaging	0.97
R8890:Fhad1	UTSW	4	141929591	missense	probably benign	0.01
R8982:Fhad1	UTSW	4	142002584	missense	probably damaging	1.00
R9004:Fhad1	UTSW	4	141922424	splice site	probably benign
R9021:Fhad1	UTSW	4	141982309	missense	probably damaging	0.97
R9190:Fhad1	UTSW	4	141918747	critical splice donor site	probably null
R9237:Fhad1	UTSW	4	141905172	missense	probably benign	0.11
R9614:Fhad1	UTSW	4	141951571	missense	possibly damaging	0.69
R9744:Fhad1	UTSW	4	141909813	missense	probably damaging	1.00
X0018:Fhad1	UTSW	4	141951616	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTACCTGAGCTGTTCCAGTTC -3'
(R):5'- GACCTATTGTACATGGCTGTGG -3'

Sequencing Primer
(F):5'- GAGCTGTTCCAGTTCCTGCTC -3'
(R):5'- GGCCCAACTGCAGTCACTTC -3'

Posted On

2016-10-26