Mutagenetix > Incidental Mutation

Incidental Mutation 'R7159:Fhad1'

557492

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated phosphopeptide binding domain 1

Synonyms

2900090M10Rik

MMRRC Submission

045259-MU

Accession Numbers

Essential gene?

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

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141617749-141742393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141678927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 583 (H583R)

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: H583R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: H583R

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: H583R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: H583R

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: ENSMUST00000124125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129192

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,380,327 (GRCm39)	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,575,970 (GRCm39)	S401P	probably benign	Het
Arfgef2	T	A	2: 166,668,848 (GRCm39)	D41E	probably benign	Het
Arid1a	T	C	4: 133,480,879 (GRCm39)	N15S	unknown	Het
Arsa	A	T	15: 89,358,921 (GRCm39)		probably null	Het
B3gnt9	C	A	8: 105,981,064 (GRCm39)	C108F	probably damaging	Het
Bbc3	C	A	7: 16,047,733 (GRCm39)	Y152*	probably null	Het
Btbd1	T	C	7: 81,467,957 (GRCm39)	M188V	probably benign	Het
Caln1	C	T	5: 130,851,838 (GRCm39)	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763 (GRCm39)	P266S	possibly damaging	Het
Ccm2l	A	T	2: 152,912,787 (GRCm39)	I109F	probably damaging	Het
Chst15	A	C	7: 131,871,987 (GRCm39)	L98R	probably damaging	Het
Ctsq	A	G	13: 61,186,737 (GRCm39)	M89T	probably benign	Het
Ddx39b	T	C	17: 35,465,986 (GRCm39)	V169A	probably benign	Het
Fndc1	T	A	17: 8,019,763 (GRCm39)	I139F	probably damaging	Het
Gm7145	C	G	1: 117,913,561 (GRCm39)	H148D	probably benign	Het
Gpr62	C	A	9: 106,342,641 (GRCm39)	A96S	probably damaging	Het
Gsap	T	A	5: 21,475,618 (GRCm39)		probably null	Het
Hdhd5	T	A	6: 120,500,432 (GRCm39)	T89S	probably damaging	Het
Kcna5	T	A	6: 126,510,592 (GRCm39)	Y512F	probably damaging	Het
Krt84	C	A	15: 101,438,044 (GRCm39)	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrp6	C	A	6: 134,484,514 (GRCm39)	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,490,144 (GRCm39)	G167D	probably damaging	Het
Man2b1	C	T	8: 85,813,909 (GRCm39)	T291M	probably benign	Het
Mapkbp1	A	G	2: 119,855,613 (GRCm39)	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,183,438 (GRCm39)	T1947A	probably benign	Het
Myh15	A	T	16: 48,881,937 (GRCm39)	T60S	probably damaging	Het
Myo5a	A	T	9: 75,078,845 (GRCm39)	I868F	probably benign	Het
Myom3	A	T	4: 135,536,162 (GRCm39)	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677 (GRCm39)		probably null	Het
Ncam2	G	T	16: 81,287,262 (GRCm39)	S392I	probably damaging	Het
Nrg3	A	C	14: 38,092,692 (GRCm39)	L647*	probably null	Het
Or10j7	A	T	1: 173,011,890 (GRCm39)	L37Q	possibly damaging	Het
Or2t35	T	C	14: 14,407,251 (GRCm38)	S8P	possibly damaging	Het
Or2y1g	A	T	11: 49,171,185 (GRCm39)	D70V	probably damaging	Het
Or8j3c	T	A	2: 86,253,956 (GRCm39)		probably null	Het
Pcdhb9	A	G	18: 37,534,545 (GRCm39)	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,819,972 (GRCm39)	N507S	probably damaging	Het
Pdilt	A	G	7: 119,087,174 (GRCm39)	V492A	probably benign	Het
Phf12	A	G	11: 77,914,366 (GRCm39)	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,254,928 (GRCm39)	I174F	probably benign	Het
Polq	A	T	16: 36,883,215 (GRCm39)	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 78,282,393 (GRCm39)	F97L	probably benign	Het
Prpsap1	T	C	11: 116,384,870 (GRCm39)	E13G	probably benign	Het
Ptpru	A	G	4: 131,546,851 (GRCm39)	L280P	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rc3h2	T	C	2: 37,299,659 (GRCm39)	S124G	probably benign	Het
Rdh5	A	G	10: 128,754,184 (GRCm39)	I83T	possibly damaging	Het
Rigi	A	G	4: 40,213,804 (GRCm39)	V618A	probably benign	Het
Ryr2	T	G	13: 11,825,794 (GRCm39)	R561S	probably damaging	Het
Scara3	A	G	14: 66,158,229 (GRCm39)	L593P	probably damaging	Het
Scfd2	T	C	5: 74,692,004 (GRCm39)	I93V	probably benign	Het
Sema4f	C	A	6: 82,894,864 (GRCm39)	V444L	possibly damaging	Het
Slco1a7	T	A	6: 141,719,504 (GRCm39)	M1L	probably damaging	Het
Spata33	T	C	8: 123,941,134 (GRCm39)	L61P	unknown	Het
Stard10	A	T	7: 100,992,343 (GRCm39)		probably null	Het
Stub1	T	C	17: 26,051,038 (GRCm39)	I115V	probably benign	Het
Tlcd3b	T	C	7: 126,426,667 (GRCm39)	F80S	probably damaging	Het
Tmem247	C	T	17: 87,225,710 (GRCm39)	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,771,223 (GRCm39)	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,466,526 (GRCm39)	Y245C	probably benign	Het
Trip13	T	C	13: 74,068,130 (GRCm39)	I284V	probably benign	Het
Trpm4	T	C	7: 44,976,692 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,740,092 (GRCm39)	L3528F	unknown	Het
Ttn	A	G	2: 76,560,918 (GRCm39)	L29161S	probably damaging	Het
Ube2v2	G	A	16: 15,398,948 (GRCm39)	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,302,733 (GRCm39)	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,236,829 (GRCm39)	F526Y	probably damaging	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
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
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'- TGCTATTCCAAACACTTGATGAGAG -3'
(R):5'- CTGCCAAAAGGACCGGAATG -3'

Sequencing Primer
(F):5'- GAAAAGGGCCTCAGTTACCTTTGTC -3'
(R):5'- CAGTGATGGGCTGCTGTCC -3'

Posted On

2019-06-26