Mutagenetix > Incidental Mutations

Incidental Mutation 'R7008:Fhad1'

544819

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated (FHA) phosphopeptide binding domain 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7008 (G1)

Quality Score

206.468

Status

Not validated

Chromosome

Chromosomal Location

141890438-142015082 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGG to CG at 141918291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036701] [ENSMUST00000105779] [ENSMUST00000105780]

AlphaFold

A6PWD2

Predicted Effect

probably null
Transcript: ENSMUST00000036701

SMART Domains

Protein: ENSMUSP00000036224
Gene: ENSMUSG00000051435

Domain	Start	End	E-Value	Type
coiled coil region	31	250	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105779

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435

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 null
Transcript: ENSMUST00000105780

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,260,096	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,729,218	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,290,979	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,933,299	R232L	probably benign	Het
Best2	T	A	8: 85,013,211	I76F	possibly damaging	Het
Card11	G	C	5: 140,873,393	R1133G	probably damaging	Het
Card9	T	C	2: 26,357,799	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,552,415	E119V	probably damaging	Het
Cd2bp2	T	C	7: 127,195,395	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,717,621	M120R	probably damaging	Het
Cryba4	T	A	5: 112,251,782	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,193,325	M26K	probably benign	Het
Dgcr2	A	G	16: 17,845,001	S157P	probably damaging	Het
Dis3l	A	G	9: 64,310,453	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,361,274	S369T	probably benign	Het
Gm8251	T	C	1: 44,059,625	D771G	probably benign	Het
Hist1h1e	T	C	13: 23,622,209	K97E	probably damaging	Het
Igf2bp2	A	T	16: 22,081,832	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Klhl5	T	C	5: 65,143,249	S52P	probably benign	Het
Lrrc28	A	T	7: 67,595,711		probably benign	Het
Map4k4	T	G	1: 39,988,971	D317E	probably benign	Het
Maz	A	T	7: 127,024,612	C66S	probably damaging	Het
Mbd4	T	C	6: 115,850,724	T43A	possibly damaging	Het
Milr1	T	A	11: 106,751,314	S11T	probably damaging	Het
Mthfd2l	T	A	5: 90,959,728	C150S	probably damaging	Het
Nemf	A	T	12: 69,341,621	N325K	possibly damaging	Het
Nemf	C	T	12: 69,353,793		probably null	Het
Nod2	T	A	8: 88,663,657	C197*	probably null	Het
Odf2l	A	G	3: 145,132,734	K241E	probably damaging	Het
Olfr1427	G	A	19: 12,098,850	T263I	possibly damaging	Het
Olfr1489	A	T	19: 13,633,621	N170I	probably damaging	Het
Osbpl10	T	G	9: 115,061,848	D101E	probably damaging	Het
Osgin1	T	C	8: 119,441,494	V20A	possibly damaging	Het
Pan3	T	A	5: 147,545,693	C438S	probably damaging	Het
Plaa	A	G	4: 94,569,349	*795Q	probably null	Het
Prss35	T	C	9: 86,756,308	V377A	probably benign	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rasl12	G	A	9: 65,410,869	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,790,906	H276R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sez6l	T	C	5: 112,464,695	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,363,112	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,409,324	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,286,922	T712A	probably benign	Het
Sntb1	A	T	15: 55,792,072	Y249*	probably null	Het
Spatc1	A	G	15: 76,283,723	I127M	probably benign	Het
Synj1	A	T	16: 90,993,945	N109K	probably damaging	Het
Tdg	T	A	10: 82,648,641	M396K	possibly damaging	Het
Tmem173	C	A	18: 35,735,171	R292L	probably damaging	Het
Tmem252	T	C	19: 24,674,292	V75A	probably damaging	Het
Trim40	T	C	17: 36,883,976	Q142R	probably damaging	Het
Trip6	T	C	5: 137,312,966	T163A	probably damaging	Het
Ttn	T	C	2: 76,894,642		probably benign	Het
Wdr95	T	C	5: 149,611,540	L721P	probably benign	Het
Zfp385c	A	T	11: 100,630,687	D182E	probably damaging	Het
Zfp597	A	G	16: 3,865,767	F375S	probably benign	Het
Zfp658	T	G	7: 43,573,912	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,561,772	F216L	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
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
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
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
X0018:Fhad1	UTSW	4	141951616	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGGTCCACCAAGTCTGTGTG -3'
(R):5'- TATTTAAAGGCCGCCTGTCCC -3'

Sequencing Primer
(F):5'- CAAGTCTGTGTGTTCCCCTGG -3'
(R):5'- TCCCTGGGCATTTTGAGC -3'

Posted On

2019-05-13