Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Fhad1'

31155

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated phosphopeptide binding domain 1

Synonyms

2900090M10Rik

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

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

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141617749-141742393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141729737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 89 (M89L)

Ref Sequence

ENSEMBL: ENSMUSP00000101406 (fasta)

Gene Model

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

AlphaFold

A6PWD2

Predicted Effect

probably benign
Transcript: ENSMUST00000105779
AA Change: M89L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: M89L

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: M89L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: M89L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fbh1	A	G	2: 11,754,389 (GRCm39)	I198T	probably damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Nat8f2	T	C	6: 85,845,350 (GRCm39)	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Or8k30	T	A	2: 86,339,727 (GRCm39)	I308K	possibly damaging	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Relt	T	C	7: 100,496,712 (GRCm39)	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,657,280 (GRCm39)	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		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
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
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'- CCACCAGAACTGGGATTGAGTTGAG -3'
(R):5'- AGTACCTTCCCTCCAAGATGGACAG -3'

Sequencing Primer
(F):5'- AGTTGAGTCTTGTTGCTATGCC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-04-24