Mutagenetix > Incidental Mutations

Incidental Mutation 'R5823:Fhad1'

450024

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated (FHA) phosphopeptide binding domain 1

Synonyms

MMRRC Submission

043215-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5823 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141890438-142015082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141955306 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 508 (I508T)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105779
AA Change: I508T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: I508T

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

possibly damaging
Transcript: ENSMUST00000105780
AA Change: I508T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: I508T

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

noncoding transcript
Transcript: ENSMUST00000124125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129192

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,930,552	I162N	probably damaging	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
4933406M09Rik	T	A	1: 134,390,917	W476R	probably damaging	Het
Acsl3	G	T	1: 78,688,286	R143L	probably benign	Het
Ankrd11	A	T	8: 122,895,790	I420K	probably benign	Het
Cwh43	A	G	5: 73,411,870	E85G	probably benign	Het
Dnah1	G	T	14: 31,266,418	F3442L	possibly damaging	Het
Dock6	T	A	9: 21,804,828	N1737I	probably damaging	Het
Fcf1	A	G	12: 84,974,147	Y55C	possibly damaging	Het
Fer1l6	T	A	15: 58,590,503	Y802*	probably null	Het
Fgf9	T	G	14: 58,083,302	S10A	probably damaging	Het
Flnc	T	C	6: 29,461,202	V2692A	probably damaging	Het
Gm38119	G	T	3: 92,738,073	H71Q	unknown	Het
Hcn1	A	T	13: 117,602,852	H50L	unknown	Het
Helz2	T	C	2: 181,236,396	T870A	possibly damaging	Het
Iqcf4	T	C	9: 106,568,601	I116V	probably benign	Het
Lama5	T	A	2: 180,192,492	I1383F	probably benign	Het
Lmo2	C	T	2: 103,981,072	T150I	probably damaging	Het
Myh13	A	G	11: 67,360,468	E1391G	probably damaging	Het
Mylk	T	A	16: 34,894,947		probably null	Het
Nat10	A	T	2: 103,730,267	V731D	probably damaging	Het
Ncapd2	A	G	6: 125,168,700	V1328A	probably benign	Het
Nfu1	C	A	6: 87,025,559	Q207K	probably damaging	Het
Nipsnap2	T	A	5: 129,739,769		probably null	Het
Npc1	T	C	18: 12,191,789	K1216E	possibly damaging	Het
Olfr457	C	A	6: 42,471,972	V69L	probably benign	Het
Phf3	T	C	1: 30,804,683	I1732V	probably damaging	Het
Rasgrp4	G	T	7: 29,137,717	R67L	probably benign	Het
Rubcn	T	C	16: 32,849,721	D88G	probably damaging	Het
Slc30a2	T	C	4: 134,345,978	I112T	probably damaging	Het
Slc35d2	A	G	13: 64,120,605	I78T	probably damaging	Het
Slc9a4	T	A	1: 40,619,117	M600K	probably damaging	Het
Slfn8	A	G	11: 83,016,736	I327T	probably benign	Het
Tas2r118	A	G	6: 23,969,471	I197T	probably benign	Het
Tex15	A	G	8: 33,570,934	I405V	possibly damaging	Het
Thsd7b	T	C	1: 129,678,084	S521P	probably benign	Het
Trim36	A	G	18: 46,169,340	L535P	probably damaging	Het
Trim63	A	T	4: 134,316,531	I102F	probably damaging	Het
Wdr47	G	A	3: 108,643,085	V809M	probably 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
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
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
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
X0018:Fhad1	UTSW	4	141951616	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATTTCTACAAGGAACACTGCAAGG -3'
(R):5'- ATGTGGCCTGAACTCTGAGG -3'

Sequencing Primer
(F):5'- CACTGCAAGGGATTTTTAAACCAGC -3'
(R):5'- GGTGAAGATAACATTTCACCTTGCC -3'

Posted On

2016-12-20