Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT1430001:Fhad1'

499843

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated (FHA) phosphopeptide binding domain 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

PIT1430001 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

141890438-142015082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 141909749 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1135 (E1135D)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105779
AA Change: E1135D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: E1135D

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 damaging
Transcript: ENSMUST00000105780
AA Change: E1135D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: E1135D

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

0.0928

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (136/137)

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,385,013	K48*	probably null	Het
2700049A03Rik	A	T	12: 71,160,386	I524F	possibly damaging	Het
4930511M06Rik	T	C	18: 57,384,169		probably benign	Het
9330159F19Rik	T	A	10: 29,224,715	N361K	probably damaging	Het
Akap9	A	G	5: 4,029,849	D1867G	probably damaging	Het
Ankrd17	T	C	5: 90,252,973	T1687A	possibly damaging	Het
Ap1m2	G	A	9: 21,298,252	P376L	probably damaging	Het
Bicc1	A	G	10: 70,957,681	S196P	possibly damaging	Het
Cacnb2	C	T	2: 14,971,601	R228*	probably null	Het
Ccdc43	A	G	11: 102,692,150	S83P	probably damaging	Het
Ccdc94	C	T	17: 55,964,479		probably benign	Het
Cdc42bpg	T	A	19: 6,322,552		probably null	Het
Cdh16	C	A	8: 104,617,639	M89I	probably benign	Het
Cecr2	A	C	6: 120,758,479	H892P	probably benign	Het
Chd5	T	A	4: 152,370,637	S859T	probably damaging	Het
Chrd	G	A	16: 20,738,998		probably null	Het
Chrna2	T	A	14: 66,149,737	L444Q	probably benign	Het
Ckap4	A	G	10: 84,527,766	S478P	probably damaging	Het
Cldn4	A	T	5: 134,946,660	M29K	possibly damaging	Het
Clpb	T	C	7: 101,786,719	V615A	possibly damaging	Het
Cyb5r4	G	A	9: 87,038,738	G142E	probably benign	Het
Cyp1a1	A	G	9: 57,700,911	Y274C	probably benign	Het
D2hgdh	T	C	1: 93,826,279		probably benign	Het
Dgkh	T	A	14: 78,581,513	E919V	probably damaging	Het
Dnah1	A	G	14: 31,262,580	Y3916H	probably damaging	Het
Dpp10	A	G	1: 123,341,182		probably benign	Het
Egfr	A	G	11: 16,910,214	T1043A	probably benign	Het
Elp5	T	G	11: 69,967,109		probably null	Het
Emilin3	A	T	2: 160,908,482	M449K	possibly damaging	Het
Epb41l4a	T	G	18: 33,797,347	T686P	probably damaging	Het
Eppk1	A	G	15: 76,105,236	C2482R	probably benign	Het
Eps8l3	T	C	3: 107,884,867	L370P	probably damaging	Het
Erbin	A	T	13: 103,859,509	S228R	probably damaging	Het
Fam149a	C	T	8: 45,351,706	E280K	probably benign	Het
Fam78b	T	C	1: 167,001,744	I60T	probably benign	Het
Fank1	A	T	7: 133,876,800	R197*	probably null	Het
Fbxo21	C	T	5: 117,977,866	S83F	possibly damaging	Het
Fbxo4	G	C	15: 3,979,300	T42R	probably benign	Het
Fmo1	T	A	1: 162,830,053	E506D	probably benign	Het
Glipr1l2	A	T	10: 112,106,840	T231S	probably benign	Het
Gm11651	C	G	11: 105,973,091		probably benign	Het
Gm16043	A	G	6: 8,426,969		probably null	Het
Gm5615	A	T	9: 36,534,999	L39*	probably null	Het
Gm572	T	G	4: 148,671,393	W389G	unknown	Het
Gpc6	G	A	14: 117,951,182	W409*	probably null	Het
Gpr124	A	G	8: 27,114,188	M469V	possibly damaging	Het
Gpr155	T	C	2: 73,370,138	T342A	probably benign	Het
Hcn4	A	C	9: 58,859,550	H798P	unknown	Het
Herc2	T	C	7: 56,226,954	S4513P	probably damaging	Het
Hmcn1	G	A	1: 150,808,737	R361C	probably benign	Het
Hoxa4	G	T	6: 52,191,219	P157Q	possibly damaging	Het
Ift122	A	C	6: 115,925,744		probably benign	Het
Igfbpl1	G	A	4: 45,826,756	S13L	unknown	Het
Igsf10	T	C	3: 59,328,158	D1534G	probably benign	Het
Il1rap	T	G	16: 26,710,593	L339V	possibly damaging	Het
Irf2bpl	C	T	12: 86,883,455	R148H	possibly damaging	Het
Ivns1abp	A	T	1: 151,361,605	R58W	probably damaging	Het
Kcnq5	C	T	1: 21,535,181	V167M	probably damaging	Het
Lrrcc1	G	A	3: 14,545,596	C337Y	probably damaging	Het
Lrriq3	A	G	3: 155,098,870	I56V	probably benign	Het
Marc1	T	G	1: 184,807,049	T37P	probably benign	Het
Masp1	C	A	16: 23,513,944	S47I	probably damaging	Het
Mcm7	A	T	5: 138,167,446		probably benign	Het
Mdm2	G	T	10: 117,694,935	S210R	probably damaging	Het
Mical1	A	G	10: 41,483,496	R500G	possibly damaging	Het
Myc	A	C	15: 61,987,693	T73P	probably damaging	Het
Myh15	G	A	16: 49,196,891		probably null	Het
Myh4	A	G	11: 67,258,832	M1768V	probably benign	Het
Nap1l1	T	C	10: 111,486,736	Y66H	probably damaging	Het
Ncoa1	C	T	12: 4,323,005	R132K	probably benign	Het
Nfatc3	C	T	8: 106,059,973	S28F	possibly damaging	Het
Nhlrc3	T	A	3: 53,453,629	K235M	probably damaging	Het
Nrk	G	A	X: 138,978,714	E757K	probably damaging	Het
Obsl1	G	A	1: 75,506,167	P20S	probably damaging	Het
P2rx7	C	T	5: 122,681,216	A567V	probably damaging	Het
Pcdhb15	G	A	18: 37,475,671	R652H	probably benign	Het
Pcdhga4	T	C	18: 37,686,214	V272A	probably benign	Het
Pcdhgb1	T	G	18: 37,681,419	V321G	probably damaging	Het
Pde2a	C	G	7: 101,451,477		probably benign	Het
Pdhb	C	T	14: 8,170,425	E109K	probably damaging	Het
Pkd1	C	A	17: 24,569,511	L748M	probably damaging	Het
Pkd2	A	T	5: 104,459,788	E51V	probably damaging	Het
Pkdrej	A	G	15: 85,821,292	Y148H	probably damaging	Het
Polr3gl	C	G	3: 96,580,912		probably benign	Het
Ppfia1	A	T	7: 144,498,336	L882Q	probably damaging	Het
Ppp4r3b	G	T	11: 29,209,434	R596L	probably benign	Het
Ppp6r3	G	A	19: 3,471,059	Q85*	probably null	Het
Prss8	A	G	7: 127,922,252		probably benign	Het
Rab22a	A	G	2: 173,695,170	I87V	probably benign	Het
Rev1	A	C	1: 38,056,256		probably benign	Het
Rnase13	A	G	14: 51,922,530	Y51H	probably damaging	Het
Rnf26	T	C	9: 44,112,645	H102R	probably damaging	Het
Rnf5	T	C	17: 34,603,367	E36G	probably damaging	Het
Rplp1	T	G	9: 61,914,376	D18A	probably benign	Het
Rrs1	C	A	1: 9,545,925	D134E	probably damaging	Het
Sec14l1	A	G	11: 117,143,803	Y166C	probably damaging	Het
Sec14l2	A	T	11: 4,109,209	Y153*	probably null	Het
Senp1	A	G	15: 98,084,989	L39P	probably damaging	Het
Senp2	T	A	16: 22,014,114		probably benign	Het
Sh3bp1	G	A	15: 78,914,024	A19T	probably benign	Het
Sis	G	A	3: 72,922,829	P1130S	probably damaging	Het
Slc16a12	C	T	19: 34,677,359	A95T	possibly damaging	Het
Slc22a4	A	G	11: 54,027,957	V7A	probably benign	Het
Slc35c2	C	T	2: 165,277,532	S296N	probably benign	Het
Slf1	A	G	13: 77,050,050		probably benign	Het
Slitrk6	A	T	14: 110,750,427	V616E	possibly damaging	Het
Smarca2	T	A	19: 26,649,093	M439K	probably benign	Het
Snx29	G	A	16: 11,403,624	A305T	probably benign	Het
Socs5	C	T	17: 87,133,616		probably benign	Het
Spata31d1a	G	T	13: 59,701,196	H1039Q	probably benign	Het
Srgap1	G	A	10: 121,896,753		probably benign	Het
Synj1	A	T	16: 90,964,508	I650N	probably damaging	Het
Tac4	A	C	11: 95,267,364		probably benign	Het
Tbck	A	C	3: 132,722,726	T281P	probably benign	Het
Tbx22	T	C	X: 107,677,005	L62P	probably damaging	Het
Terf2	G	C	8: 107,096,302	R70G	probably damaging	Het
Tfdp1	C	T	8: 13,372,526	P138S	probably benign	Het
Tigd2	T	C	6: 59,211,248	Y367H	probably damaging	Het
Tmprss15	A	T	16: 79,024,752		probably null	Het
Tmprss6	C	T	15: 78,440,627	G741D	probably damaging	Het
Tnrc6b	A	C	15: 80,929,186	T1715P	probably damaging	Het
Tpcn1	T	C	5: 120,548,323		probably benign	Het
Trappc2l	T	C	8: 122,613,135	S35P	probably damaging	Het
Trim63	T	C	4: 134,321,173		probably benign	Het
Trim66	G	T	7: 109,475,247	D602E	probably damaging	Het
Trp53bp1	G	A	2: 121,271,275	P2S	probably damaging	Het
Tspan14	A	G	14: 40,915,531	L100P	probably damaging	Het
Tspan15	C	T	10: 62,188,120	E260K	probably damaging	Het
Ubxn10	T	C	4: 138,720,888	D159G	probably benign	Het
Unc5a	T	G	13: 55,003,896	V713G	probably damaging	Het
Usp16	C	T	16: 87,473,132	A324V	probably damaging	Het
Uvssa	G	A	5: 33,402,570	R422Q	possibly damaging	Het
Wdr34	T	C	2: 30,032,135	Y438C	probably damaging	Het
Wipf1	A	C	2: 73,437,602	F151V	probably damaging	Het
Xpo1	A	T	11: 23,276,437	K104N	possibly damaging	Het
Ybx3	T	C	6: 131,379,459	T150A	probably damaging	Het
Zap70	T	A	1: 36,779,169	S312R	possibly damaging	Het
Zfp534	T	G	4: 147,675,423	K263T	probably benign	Het
Zfp534	T	G	4: 147,675,460	N251H	probably benign	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
BB002:Fhad1	UTSW	4	141954187	missense	probably damaging	0.97
BB012:Fhad1	UTSW	4	141954187	missense	probably damaging	0.97
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
R5586:Fhad1	UTSW	4	141905131	missense	probably benign	0.44
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
X0018:Fhad1	UTSW	4	141951616	missense	probably benign	0.01

Predicted Primers

Posted On

2017-11-21