Mutagenetix > Incidental Mutation

Incidental Mutation 'R7012:Fhad1'

545066

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated phosphopeptide binding domain 1

Synonyms

2900090M10Rik

MMRRC Submission

045113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7012 (G1)

Quality Score

200.468

Status

Validated

Chromosome

Chromosomal Location

141617749-141742393 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGG to CG at 141645602 bp (GRCm39)

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: 99.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,769,431 (GRCm39)	F686L	probably benign	Het
Adcy4	C	T	14: 56,017,376 (GRCm39)	V266I	possibly damaging	Het
Adgrb1	A	G	15: 74,401,750 (GRCm39)	T249A	probably damaging	Het
Adss1	A	G	12: 112,600,670 (GRCm39)	D213G	probably benign	Het
Ap1b1	T	G	11: 4,980,963 (GRCm39)	V453G	probably damaging	Het
Apold1	G	A	6: 134,961,007 (GRCm39)	G154R	probably damaging	Het
Birc5	A	G	11: 117,740,262 (GRCm39)	E29G	probably benign	Het
Clcn1	G	A	6: 42,267,542 (GRCm39)	R75H	probably benign	Het
Cngb1	T	A	8: 95,984,583 (GRCm39)	I868F	possibly damaging	Het
Cntn6	T	A	6: 104,703,223 (GRCm39)	V215E	probably damaging	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Col6a2	A	T	10: 76,450,511 (GRCm39)	I140N	possibly damaging	Het
Cops5	A	G	1: 10,100,890 (GRCm39)	*147Q	probably null	Het
Dbr1	T	A	9: 99,465,374 (GRCm39)	Y317*	probably null	Het
Dock5	A	C	14: 68,060,035 (GRCm39)	V468G	probably damaging	Het
F13b	A	G	1: 139,444,096 (GRCm39)	I477V	probably benign	Het
Git1	T	C	11: 77,390,606 (GRCm39)	L114P	probably damaging	Het
Greb1l	G	T	18: 10,529,707 (GRCm39)		probably null	Het
Itih4	A	G	14: 30,612,706 (GRCm39)	N244S	probably benign	Het
Lin28a	A	G	4: 133,746,040 (GRCm39)	S5P	probably damaging	Het
Lipt1	T	C	1: 37,915,060 (GRCm39)	I372T	probably benign	Het
Lysmd4	A	G	7: 66,875,765 (GRCm39)	T143A	probably benign	Het
Muc16	T	C	9: 18,406,914 (GRCm39)		probably null	Het
Or13c9	A	G	4: 52,936,193 (GRCm39)	L30P	probably damaging	Het
Or2y1g	A	T	11: 49,171,823 (GRCm39)	M283L	probably benign	Het
Or5t16	A	T	2: 86,819,051 (GRCm39)	H156Q	possibly damaging	Het
Or6e1	A	G	14: 54,519,674 (GRCm39)	I226T	possibly damaging	Het
Pclo	G	A	5: 14,800,493 (GRCm39)	G4438D	unknown	Het
Phlpp2	T	A	8: 110,603,486 (GRCm39)	F51I	possibly damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rxfp2	T	C	5: 150,004,659 (GRCm39)	V711A	probably benign	Het
Sbno2	A	T	10: 79,905,352 (GRCm39)		probably benign	Het
Setd2	T	A	9: 110,376,751 (GRCm39)	S189T	probably damaging	Het
Sez6	A	G	11: 77,868,621 (GRCm39)	N965S	probably benign	Het
Sh3d19	A	G	3: 85,992,320 (GRCm39)	N116S	probably benign	Het
Slc43a3	T	C	2: 84,777,313 (GRCm39)	Y221H	probably damaging	Het
Slco1a6	T	C	6: 142,032,287 (GRCm39)	I613V	probably benign	Het
Stag3	T	A	5: 138,295,871 (GRCm39)		probably null	Het
Ston1	T	C	17: 88,943,413 (GRCm39)	M273T	probably damaging	Het
Tbc1d32	A	T	10: 56,100,820 (GRCm39)	Y53N	probably damaging	Het
Tmem132b	T	A	5: 125,775,654 (GRCm39)	L376Q	probably damaging	Het
Trim60	A	G	8: 65,453,043 (GRCm39)	V402A	possibly damaging	Het
Tssk5	A	C	15: 76,257,745 (GRCm39)	N178K	probably damaging	Het
Ttll9	T	C	2: 152,844,982 (GRCm39)	I450T	possibly damaging	Het
Tyw1	T	G	5: 130,306,571 (GRCm39)		probably null	Het
Usp16	T	C	16: 87,255,632 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,167,756 (GRCm39)	V670A	probably damaging	Het
Vmn2r98	A	G	17: 19,286,530 (GRCm39)	N343D	probably benign	Het
Zfp472	T	G	17: 33,196,220 (GRCm39)	N98K	probably benign	Het

Other mutations in Fhad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Fhad1	APN	4	141,632,923 (GRCm39)	missense	probably benign	0.02
IGL01478:Fhad1	APN	4	141,678,949 (GRCm39)	missense	possibly damaging	0.84
IGL01752:Fhad1	APN	4	141,700,210 (GRCm39)	missense	possibly damaging	0.82
IGL01788:Fhad1	APN	4	141,660,113 (GRCm39)	missense	probably benign	0.00
IGL01919:Fhad1	APN	4	141,691,906 (GRCm39)	missense	probably damaging	0.96
IGL02489:Fhad1	APN	4	141,684,931 (GRCm39)	missense	probably damaging	0.97
IGL02568:Fhad1	APN	4	141,660,105 (GRCm39)	missense	probably null	1.00
IGL02583:Fhad1	APN	4	141,738,955 (GRCm39)	utr 5 prime	probably benign
IGL02716:Fhad1	APN	4	141,645,642 (GRCm39)	missense	possibly damaging	0.89
IGL02819:Fhad1	APN	4	141,646,069 (GRCm39)	missense	probably benign	0.23
IGL02820:Fhad1	APN	4	141,646,069 (GRCm39)	missense	probably benign	0.23
IGL03038:Fhad1	APN	4	141,729,805 (GRCm39)	missense	probably benign	0.38
IGL03167:Fhad1	APN	4	141,700,108 (GRCm39)	missense	probably benign	0.00
IGL03255:Fhad1	APN	4	141,700,191 (GRCm39)	missense	possibly damaging	0.79
R4466_Fhad1_343	UTSW	4	141,684,969 (GRCm39)	missense	probably damaging	1.00
R4831_Fhad1_494	UTSW	4	141,643,378 (GRCm39)	splice site	probably null
R5504_Fhad1_818	UTSW	4	141,712,846 (GRCm39)	missense	probably benign
BB002:Fhad1	UTSW	4	141,681,498 (GRCm39)	missense	probably damaging	0.97
BB012:Fhad1	UTSW	4	141,681,498 (GRCm39)	missense	probably damaging	0.97
PIT1430001:Fhad1	UTSW	4	141,637,060 (GRCm39)	missense	probably damaging	0.99
R0014:Fhad1	UTSW	4	141,655,719 (GRCm39)	missense	probably damaging	1.00
R0116:Fhad1	UTSW	4	141,667,406 (GRCm39)	missense	probably benign	0.06
R0143:Fhad1	UTSW	4	141,656,957 (GRCm39)	splice site	probably benign
R0178:Fhad1	UTSW	4	141,682,651 (GRCm39)	missense	probably benign	0.31
R0308:Fhad1	UTSW	4	141,712,904 (GRCm39)	splice site	probably benign
R0384:Fhad1	UTSW	4	141,729,737 (GRCm39)	missense	probably benign
R0583:Fhad1	UTSW	4	141,631,301 (GRCm39)	missense	probably benign	0.37
R1501:Fhad1	UTSW	4	141,691,936 (GRCm39)	missense	probably benign
R1584:Fhad1	UTSW	4	141,712,822 (GRCm39)	missense	probably benign	0.22
R1615:Fhad1	UTSW	4	141,649,634 (GRCm39)	missense	probably damaging	0.99
R1991:Fhad1	UTSW	4	141,709,473 (GRCm39)	missense	possibly damaging	0.75
R2060:Fhad1	UTSW	4	141,626,560 (GRCm39)	missense	probably benign	0.08
R2079:Fhad1	UTSW	4	141,718,513 (GRCm39)	nonsense	probably null
R2133:Fhad1	UTSW	4	141,655,711 (GRCm39)	missense	probably damaging	1.00
R2337:Fhad1	UTSW	4	141,649,655 (GRCm39)	missense	possibly damaging	0.84
R2843:Fhad1	UTSW	4	141,632,279 (GRCm39)	missense	probably benign	0.06
R2844:Fhad1	UTSW	4	141,632,279 (GRCm39)	missense	probably benign	0.06
R2845:Fhad1	UTSW	4	141,632,279 (GRCm39)	missense	probably benign	0.06
R2846:Fhad1	UTSW	4	141,632,279 (GRCm39)	missense	probably benign	0.06
R2866:Fhad1	UTSW	4	141,648,099 (GRCm39)	missense	probably benign	0.00
R3119:Fhad1	UTSW	4	141,645,618 (GRCm39)	frame shift	probably null
R3760:Fhad1	UTSW	4	141,637,124 (GRCm39)	missense	probably damaging	1.00
R4180:Fhad1	UTSW	4	141,712,854 (GRCm39)	missense	possibly damaging	0.69
R4466:Fhad1	UTSW	4	141,684,969 (GRCm39)	missense	probably damaging	1.00
R4627:Fhad1	UTSW	4	141,623,779 (GRCm39)	missense	possibly damaging	0.47
R4680:Fhad1	UTSW	4	141,738,858 (GRCm39)	nonsense	probably null
R4725:Fhad1	UTSW	4	141,655,689 (GRCm39)	critical splice donor site	probably null
R4755:Fhad1	UTSW	4	141,655,794 (GRCm39)	missense	probably damaging	1.00
R4831:Fhad1	UTSW	4	141,643,378 (GRCm39)	splice site	probably null
R4909:Fhad1	UTSW	4	141,712,822 (GRCm39)	missense	probably benign	0.01
R4968:Fhad1	UTSW	4	141,645,618 (GRCm39)	missense	probably damaging	1.00
R5004:Fhad1	UTSW	4	141,729,910 (GRCm39)	critical splice acceptor site	probably null
R5036:Fhad1	UTSW	4	141,648,052 (GRCm39)	missense	probably benign	0.03
R5048:Fhad1	UTSW	4	141,691,987 (GRCm39)	critical splice acceptor site	probably null
R5416:Fhad1	UTSW	4	141,646,113 (GRCm39)	missense	probably benign	0.39
R5504:Fhad1	UTSW	4	141,712,846 (GRCm39)	missense	probably benign
R5586:Fhad1	UTSW	4	141,632,442 (GRCm39)	missense	probably benign	0.44
R5692:Fhad1	UTSW	4	141,690,768 (GRCm39)	missense	probably benign	0.00
R5706:Fhad1	UTSW	4	141,681,427 (GRCm39)	missense	probably damaging	1.00
R5773:Fhad1	UTSW	4	141,656,881 (GRCm39)	missense	probably damaging	0.99
R5823:Fhad1	UTSW	4	141,682,617 (GRCm39)	missense	possibly damaging	0.84
R5833:Fhad1	UTSW	4	141,729,838 (GRCm39)	missense	probably damaging	1.00
R6170:Fhad1	UTSW	4	141,618,263 (GRCm39)	nonsense	probably null
R6286:Fhad1	UTSW	4	141,648,209 (GRCm39)	missense	probably damaging	1.00
R6610:Fhad1	UTSW	4	141,643,707 (GRCm39)	missense	possibly damaging	0.94
R6755:Fhad1	UTSW	4	141,691,915 (GRCm39)	missense	probably damaging	1.00
R7006:Fhad1	UTSW	4	141,645,602 (GRCm39)	frame shift	probably null
R7008:Fhad1	UTSW	4	141,645,602 (GRCm39)	frame shift	probably null
R7014:Fhad1	UTSW	4	141,645,602 (GRCm39)	frame shift	probably null
R7058:Fhad1	UTSW	4	141,645,602 (GRCm39)	frame shift	probably null
R7059:Fhad1	UTSW	4	141,645,602 (GRCm39)	frame shift	probably null
R7060:Fhad1	UTSW	4	141,645,602 (GRCm39)	frame shift	probably null
R7159:Fhad1	UTSW	4	141,678,927 (GRCm39)	missense	probably benign	0.01
R7472:Fhad1	UTSW	4	141,691,937 (GRCm39)	missense	probably benign
R7670:Fhad1	UTSW	4	141,678,802 (GRCm39)	missense	probably benign	0.01
R7694:Fhad1	UTSW	4	141,632,375 (GRCm39)	missense	probably benign	0.41
R7745:Fhad1	UTSW	4	141,618,250 (GRCm39)	missense	probably benign	0.00
R7848:Fhad1	UTSW	4	141,632,913 (GRCm39)	missense	probably benign	0.29
R7853:Fhad1	UTSW	4	141,637,134 (GRCm39)	missense	probably damaging	0.99
R7867:Fhad1	UTSW	4	141,632,902 (GRCm39)	missense	probably benign	0.00
R7925:Fhad1	UTSW	4	141,681,498 (GRCm39)	missense	probably damaging	0.97
R8089:Fhad1	UTSW	4	141,684,971 (GRCm39)	missense	probably damaging	1.00
R8123:Fhad1	UTSW	4	141,712,836 (GRCm39)	missense	probably benign	0.02
R8711:Fhad1	UTSW	4	141,684,924 (GRCm39)	missense	probably benign	0.25
R8751:Fhad1	UTSW	4	141,646,134 (GRCm39)	missense	probably benign	0.04
R8783:Fhad1	UTSW	4	141,636,403 (GRCm39)	missense	probably benign	0.02
R8858:Fhad1	UTSW	4	141,666,339 (GRCm39)	missense	possibly damaging	0.87
R8867:Fhad1	UTSW	4	141,656,885 (GRCm39)	missense	probably damaging	0.97
R8890:Fhad1	UTSW	4	141,656,902 (GRCm39)	missense	probably benign	0.01
R8982:Fhad1	UTSW	4	141,729,895 (GRCm39)	missense	probably damaging	1.00
R9004:Fhad1	UTSW	4	141,649,735 (GRCm39)	splice site	probably benign
R9021:Fhad1	UTSW	4	141,709,620 (GRCm39)	missense	probably damaging	0.97
R9190:Fhad1	UTSW	4	141,646,058 (GRCm39)	critical splice donor site	probably null
R9237:Fhad1	UTSW	4	141,632,483 (GRCm39)	missense	probably benign	0.11
R9614:Fhad1	UTSW	4	141,678,882 (GRCm39)	missense	possibly damaging	0.69
R9744:Fhad1	UTSW	4	141,637,124 (GRCm39)	missense	probably damaging	1.00
X0018:Fhad1	UTSW	4	141,678,927 (GRCm39)	missense	probably benign	0.01

Predicted Primers

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

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

Posted On

2019-05-13