Mutagenetix > Incidental Mutations

Incidental Mutation 'R5833:Fhad1'

449398

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated (FHA) phosphopeptide binding domain 1

Synonyms

MMRRC Submission

043221-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5833 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

141890438-142015082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142002527 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 55 (D55G)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105779
AA Change: D55G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: D55G

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: D55G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: D55G

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: ENSMUST00000123068

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 95.7%
20x: 84.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abcb4	T	C	5: 8,958,314	Y1161H	probably damaging	Het
Adcy2	T	A	13: 68,738,603	M276L	probably benign	Het
Adi1	A	G	12: 28,681,042	D166G	probably benign	Het
Arhgap44	T	G	11: 65,038,677	E267A	probably damaging	Het
Arl11	T	A	14: 61,311,062	L107Q	probably damaging	Het
C1qtnf3	A	G	15: 10,975,630	D247G	probably benign	Het
C4b	T	C	17: 34,730,673	D1481G	probably damaging	Het
Cacna1a	T	C	8: 84,518,697	F242L	probably damaging	Het
Ccnl1	T	C	3: 65,948,501	K298E	probably benign	Het
Dcaf5	A	G	12: 80,348,429	V322A	probably damaging	Het
Ddr2	T	C	1: 170,004,696	N175S	probably benign	Het
Enox1	T	A	14: 77,506,939	M21K	probably benign	Het
Gm5157	A	G	7: 21,185,393	M75T	possibly damaging	Het
Gm6309	A	G	5: 146,168,318	S262P	probably damaging	Het
Gpnmb	T	C	6: 49,044,018	L82P	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Itpripl2	A	C	7: 118,489,971	V455G	probably benign	Het
Kif16b	A	G	2: 142,707,367	V1087A	probably benign	Het
Med12l	A	G	3: 59,265,226	D1801G	possibly damaging	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Mtmr4	T	A	11: 87,605,049	Y570*	probably null	Het
Osbpl1a	G	T	18: 12,788,362	N128K	probably damaging	Het
Pcdhb5	T	A	18: 37,321,102	H178Q	probably damaging	Het
Pdlim1	A	T	19: 40,230,545	F214Y	probably damaging	Het
Qk	A	T	17: 10,216,387	L236H	probably damaging	Het
Rexo2	G	T	9: 48,468,871	D220E	probably benign	Het
Rras	A	G	7: 45,021,291	E195G	possibly damaging	Het
Serpinb11	T	C	1: 107,377,662		probably null	Het
Sp1	T	A	15: 102,430,917	M430K	possibly damaging	Het
Tardbp	A	C	4: 148,617,660	V86G	probably damaging	Het
Trim43c	A	G	9: 88,843,037	Q203R	possibly damaging	Het
Vmn1r232	A	G	17: 20,913,651	L229P	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
R5823:Fhad1	UTSW	4	141955306	missense	possibly damaging	0.84
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'- ATCTGAGAACAGGACAGCATGC -3'
(R):5'- ACTGTTGAGGACCCAGCAAG -3'

Sequencing Primer
(F):5'- GGACAGCATGCACAAGCCAG -3'
(R):5'- CCAGCAAGGAGGCTCAGTG -3'

Posted On

2016-12-20