Mutagenetix > Incidental Mutation

Incidental Mutation 'R6610:Fhad1'

525878

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated phosphopeptide binding domain 1

Synonyms

2900090M10Rik

MMRRC Submission

044733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6610 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141617749-141742393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141643707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1054 (L1054P)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

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

AlphaFold

A6PWD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036701
AA Change: L389P

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036224
Gene: ENSMUSG00000051435
AA Change: L389P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105779
AA Change: L1054P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: L1054P

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: L1054P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: L1054P

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: ENSMUST00000137618

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,437,561 (GRCm39)	M1L	probably benign	Het
Adam26b	T	C	8: 43,974,190 (GRCm39)	K271E	probably damaging	Het
Ankrd44	A	G	1: 54,694,246 (GRCm39)	I914T	probably benign	Het
Atp12a	A	G	14: 56,612,013 (GRCm39)	R396G	probably damaging	Het
C2cd3	A	G	7: 100,104,505 (GRCm39)	K2173E	probably benign	Het
Cbx2	A	G	11: 118,915,036 (GRCm39)	D51G	probably damaging	Het
Ccdc33	T	A	9: 57,976,419 (GRCm39)	T532S	possibly damaging	Het
Ccnt1	T	C	15: 98,462,982 (GRCm39)	I63M	probably damaging	Het
Cdc20b	C	T	13: 113,200,796 (GRCm39)	T172I	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ces2f	T	G	8: 105,676,738 (GRCm39)		probably null	Het
Cfh	A	T	1: 140,029,486 (GRCm39)	C597*	probably null	Het
Cntnap2	A	T	6: 45,992,191 (GRCm39)	T373S	probably benign	Het
Cyb5r4	T	G	9: 86,941,470 (GRCm39)	C64G	probably benign	Het
Cyp2c23	A	G	19: 43,995,520 (GRCm39)	F416L	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Eif4e1b	A	G	13: 54,932,128 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,758,236 (GRCm39)	V1227A	probably benign	Het
Etl4	G	A	2: 20,718,180 (GRCm39)	R256K	probably damaging	Het
Grik1	A	G	16: 87,831,200 (GRCm39)	I190T	probably damaging	Het
Gsdmc2	T	C	15: 63,696,857 (GRCm39)	N438S	probably benign	Het
Igkv15-103	A	T	6: 68,414,617 (GRCm39)	R19*	probably null	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lhcgr	A	T	17: 89,077,307 (GRCm39)	I93K	possibly damaging	Het
Muc6	G	C	7: 141,226,700 (GRCm39)		probably benign	Het
Mymk	G	T	2: 26,957,405 (GRCm39)	S29R	possibly damaging	Het
Nab2	A	T	10: 127,500,207 (GRCm39)	I295N	probably damaging	Het
Neu2	A	T	1: 87,524,407 (GRCm39)	T131S	probably benign	Het
Pdcd7	T	A	9: 65,261,965 (GRCm39)	M129K	possibly damaging	Het
Ptar1	A	G	19: 23,695,208 (GRCm39)	H225R	probably benign	Het
Pygb	T	A	2: 150,665,886 (GRCm39)		probably null	Het
Rpap3	T	C	15: 97,586,049 (GRCm39)	D314G	probably benign	Het
Scara3	A	G	14: 66,168,670 (GRCm39)	S316P	probably damaging	Het
Sec24a	C	T	11: 51,587,483 (GRCm39)	V1051I	probably benign	Het
Setdb1	G	T	3: 95,235,888 (GRCm39)	A841D	probably damaging	Het
Stk32b	G	A	5: 37,606,022 (GRCm39)	T407I	probably benign	Het
Tcte2	G	A	17: 13,948,250 (GRCm39)	Q10*	probably null	Het
Tgm2	C	A	2: 157,985,020 (GRCm39)	E29*	probably null	Het
Trim32	G	A	4: 65,533,308 (GRCm39)	V622M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Vmn1r123	A	G	7: 20,896,515 (GRCm39)	N136D	probably benign	Het
Vmn2r31	A	T	7: 7,387,588 (GRCm39)	V661E	probably damaging	Het
Vmn2r85	A	T	10: 130,261,838 (GRCm39)	F166L	probably damaging	Het
Zfp426	T	C	9: 20,384,389 (GRCm39)	K98R	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	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
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
R7012: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'- CTGTGTTTAAGCCATGAGCC -3'
(R):5'- CTAAGTTAGTGTCACTCCTGTCG -3'

Sequencing Primer
(F):5'- GTTTAAGCCATGAGCCCGGTTAC -3'
(R):5'- TCGCTCCCAGGGGAACTAAG -3'

Posted On

2018-06-22