Mutagenetix > Incidental Mutation

Incidental Mutation 'R7848:Fhad1'

606723

Institutional Source

Beutler Lab

Gene Symbol

Fhad1

Ensembl Gene

ENSMUSG00000051435

Gene Name

forkhead-associated phosphopeptide binding domain 1

Synonyms

2900090M10Rik

MMRRC Submission

045902-MU

Accession Numbers

Essential gene?

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

Stock #

R7848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141617749-141742393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141632913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1197 (M1197K)

Ref Sequence

ENSEMBL: ENSMUSP00000101405 (fasta)

Gene Model

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

AlphaFold

A6PWD2

Predicted Effect

probably benign
Transcript: ENSMUST00000105779
AA Change: M1197K

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: M1197K

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: M1197K

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: M1197K

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

0.2962

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,340,007 (GRCm39)	A2T	probably damaging	Het
Abca3	G	T	17: 24,603,506 (GRCm39)	G566V	probably damaging	Het
Aff4	C	A	11: 53,295,339 (GRCm39)	N846K	probably benign	Het
Aldh1l2	C	T	10: 83,335,707 (GRCm39)	R714Q	probably benign	Het
Cbln1	T	C	8: 88,198,328 (GRCm39)	T126A	probably damaging	Het
Ccdc85a	A	G	11: 28,346,123 (GRCm39)	S446P	possibly damaging	Het
Ccdc87	A	G	19: 4,891,536 (GRCm39)	Q676R	probably damaging	Het
Cenatac	A	G	9: 44,324,939 (GRCm39)	S139P	probably damaging	Het
Col26a1	T	C	5: 136,775,907 (GRCm39)	K349E	possibly damaging	Het
Col6a5	T	C	9: 105,805,385 (GRCm39)	I1174V	unknown	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,973,557 (GRCm39)	D64G	possibly damaging	Het
Dnajc15	T	C	14: 78,077,643 (GRCm39)	H114R	probably damaging	Het
Espl1	T	C	15: 102,224,961 (GRCm39)	F1390S	probably damaging	Het
F5	T	C	1: 163,989,446 (GRCm39)	I116T	possibly damaging	Het
Fam120b	T	C	17: 15,626,036 (GRCm39)	V463A	possibly damaging	Het
Fat4	A	G	3: 38,942,000 (GRCm39)	M298V	probably benign	Het
Fn1	T	A	1: 71,689,760 (GRCm39)	I127F	probably damaging	Het
Frmd4a	A	G	2: 4,596,728 (GRCm39)		probably benign	Het
Gabpb2	A	T	3: 95,097,959 (GRCm39)	V238E	probably damaging	Het
Gnpat	C	A	8: 125,613,630 (GRCm39)	Q626K	possibly damaging	Het
Gstm7	A	T	3: 107,835,902 (GRCm39)		probably null	Het
Gys2	G	T	6: 142,391,741 (GRCm39)	S507*	probably null	Het
Ippk	T	A	13: 49,596,972 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,196,548 (GRCm39)	N623I	probably damaging	Het
Kcnb1	A	G	2: 166,948,188 (GRCm39)	F220S	probably damaging	Het
Kiz	T	A	2: 146,731,100 (GRCm39)	S197T	probably benign	Het
Klhl42	A	G	6: 147,009,598 (GRCm39)	N479S	probably damaging	Het
Lims2	A	G	18: 32,091,301 (GRCm39)	*60W	probably null	Het
Lrch4	A	G	5: 137,632,116 (GRCm39)	N124S	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k13	T	C	16: 21,724,621 (GRCm39)	V373A	probably damaging	Het
Mapkapk5	A	G	5: 121,683,232 (GRCm39)	I11T	probably benign	Het
Mroh2b	C	T	15: 4,967,861 (GRCm39)	Q967*	probably null	Het
Mthfd1l	A	G	10: 4,033,739 (GRCm39)	T709A	possibly damaging	Het
Muc6	T	C	7: 141,232,188 (GRCm39)	T939A	possibly damaging	Het
Ncam2	C	T	16: 81,287,267 (GRCm39)	H394Y	probably benign	Het
Ncoa7	A	T	10: 30,524,414 (GRCm39)	N161K	possibly damaging	Het
Nr2c1	C	T	10: 94,026,508 (GRCm39)	S461L	probably benign	Het
Nrg3	T	C	14: 38,390,240 (GRCm39)	E323G	probably damaging	Het
Nufip1	G	A	14: 76,351,661 (GRCm39)	R172H	probably damaging	Het
Nup210l	A	G	3: 90,111,212 (GRCm39)	T1705A	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Ogfr	T	C	2: 180,234,226 (GRCm39)	L99P	probably damaging	Het
Or10am5	T	C	7: 6,517,861 (GRCm39)	D189G	probably damaging	Het
Or51a43	T	A	7: 103,717,302 (GRCm39)	N312I	probably benign	Het
Pcare	T	C	17: 72,056,188 (GRCm39)	D1163G	probably benign	Het
Pcdh18	A	T	3: 49,710,446 (GRCm39)	S290T	possibly damaging	Het
Pklr	T	G	3: 89,050,285 (GRCm39)	I378S	possibly damaging	Het
Rbm12	A	T	2: 155,938,136 (GRCm39)	M712K	probably benign	Het
Rnase10	T	C	14: 51,246,970 (GRCm39)	V116A	possibly damaging	Het
Scube3	T	C	17: 28,384,569 (GRCm39)	L621P	probably benign	Het
Slc35e1	T	C	8: 73,246,280 (GRCm39)	I51V	probably benign	Het
Smcr8	A	G	11: 60,670,750 (GRCm39)	T633A	probably benign	Het
St18	T	C	1: 6,927,669 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,044,275 (GRCm39)	I509N	probably damaging	Het
Tmcc2	T	C	1: 132,288,359 (GRCm39)	K443E	probably damaging	Het
Tmem98	T	G	11: 80,710,758 (GRCm39)	V139G	probably damaging	Het
Trgv5	G	A	13: 19,376,849 (GRCm39)	V99I	probably damaging	Het
Ttll1	T	C	15: 83,381,573 (GRCm39)	E232G	probably damaging	Het
Zfp442	T	C	2: 150,253,146 (GRCm39)	N39D	possibly 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
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
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'- TCGGGCTGAGTTATGAGAAC -3'
(R):5'- CTGAGAGACCCTGCTCTAGAAAG -3'

Sequencing Primer
(F):5'- TTATGAGAACAAGTCAATAGGGCTC -3'
(R):5'- CCTGCTCTAGAAAGAAGACATCAGAG -3'

Posted On

2019-12-20