Mutagenetix > Incidental Mutations

Incidental Mutation 'R2846:Fhad1'

251583

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated (FHA) phosphopeptide binding domain 1

Synonyms

MMRRC Submission

040439-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2846 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141890438-142015082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 141904968 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1287 (Q1287K)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105779
AA Change: Q1287K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: Q1287K

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: Q1287K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: Q1287K

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

0.1021

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg4a	G	A	X: 140,992,840	E106K	probably benign	Het
Bahd1	G	A	2: 118,922,523	R757H	probably damaging	Het
Cdnf	T	A	2: 3,513,128	M1K	probably null	Het
Ddx4	T	A	13: 112,604,612	K496M	probably damaging	Het
Dlg1	T	C	16: 31,863,197	S779P	probably damaging	Het
Dtna	T	A	18: 23,651,503		probably null	Het
Gal3st2c	A	T	1: 93,996,400	Q8L	possibly damaging	Het
Hsd3b1	T	C	3: 98,852,778	E299G	probably damaging	Het
Hydin	T	C	8: 110,519,114	V2153A	probably benign	Het
Irs4	C	A	X: 141,724,340	G287W	probably damaging	Het
Kif21a	T	C	15: 90,934,464	I1570V	probably benign	Het
Kremen1	GG	GGGCG	11: 5,201,793		probably benign	Het
Mark2	T	C	19: 7,286,862	E116G	probably damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Mindy4	T	C	6: 55,278,100	V521A	probably damaging	Het
Olfr119	T	C	17: 37,700,823	I51T	probably damaging	Het
Olfr384	A	T	11: 73,603,383	T268S	probably benign	Het
Pdgfrb	C	T	18: 61,064,016	P175S	probably benign	Het
Pign	C	A	1: 105,657,796	L9F	possibly damaging	Het
Plekha1	G	T	7: 130,908,365	W280C	probably damaging	Het
Ppfia3	C	A	7: 45,356,428	R348L	probably damaging	Het
Prr12	G	C	7: 45,046,012	S1343R	unknown	Het
Psmd13	C	A	7: 140,897,740		probably benign	Het
Qpct	A	G	17: 79,070,742	T114A	probably damaging	Het
Sec24d	A	G	3: 123,350,746	D624G	probably damaging	Het
Shank2	A	G	7: 144,070,055	Y259C	probably damaging	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Smarcb1	C	A	10: 75,897,541	R332L	probably damaging	Het
Ssh3	T	C	19: 4,265,296	Y338C	probably damaging	Het
St18	T	A	1: 6,845,587	C819S	probably damaging	Het
Tas2r124	A	G	6: 132,755,267	N180D	possibly damaging	Het
Tgfbr3l	A	G	8: 4,249,280	D49G	probably damaging	Het
Tmem204	G	A	17: 25,080,333	H71Y	probably benign	Het
Vmn1r212	A	G	13: 22,884,092	S24P	probably damaging	Het
Vmn2r6	A	G	3: 64,556,790	S208P	possibly damaging	Het
Zbtb8os	A	T	4: 129,341,516	E54D	probably damaging	Het
Zmiz1	A	G	14: 25,645,675	S259G	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
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
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

PCR Primer
(F):5'- GAGGTCCTTAAATAGGTATGTGTAGC -3'
(R):5'- CCATCTCCTTGCAGTACACG -3'

Sequencing Primer
(F):5'- TGTAGCCTGCACATTGAGAGC -3'
(R):5'- TCCTTGCAGTACACGGACATG -3'

Posted On

2014-12-04