Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Foxp1'

17065

Institutional Source

Beutler Lab

Gene Symbol

Foxp1

Ensembl Gene

ENSMUSG00000030067

Gene Name

forkhead box P1

Synonyms

3110052D19Rik, 4932443N09Rik

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0063 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98902299-99499682 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 98921684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000124058] [ENSMUST00000176850] [ENSMUST00000177229] [ENSMUST00000177230] [ENSMUST00000177437] [ENSMUST00000177307] [ENSMUST00000176565] [ENSMUST00000176632]

AlphaFold

P58462

Predicted Effect

probably benign
Transcript: ENSMUST00000074346

SMART Domains

Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	191	N/A	INTRINSIC
low complexity region	200	233	N/A	INTRINSIC
low complexity region	236	250	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC
ZnF_C2H2	334	359	8.67e-1	SMART
low complexity region	371	383	N/A	INTRINSIC
low complexity region	432	446	N/A	INTRINSIC
FH	491	572	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113322

SMART Domains

Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	191	N/A	INTRINSIC
low complexity region	200	233	N/A	INTRINSIC
low complexity region	236	250	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC
ZnF_C2H2	334	359	8.67e-1	SMART
low complexity region	371	383	N/A	INTRINSIC
low complexity region	432	446	N/A	INTRINSIC
FH	491	572	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113324

SMART Domains

Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	192	N/A	INTRINSIC
low complexity region	201	234	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
ZnF_C2H2	335	360	8.67e-1	SMART
low complexity region	372	384	N/A	INTRINSIC
low complexity region	433	447	N/A	INTRINSIC
FH	492	573	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113326

SMART Domains

Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	108	159	N/A	INTRINSIC
low complexity region	168	201	N/A	INTRINSIC
low complexity region	204	218	N/A	INTRINSIC
low complexity region	232	243	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
ZnF_C2H2	302	327	8.67e-1	SMART
low complexity region	339	351	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
FH	459	540	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113328

SMART Domains

Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	191	N/A	INTRINSIC
low complexity region	200	234	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
ZnF_C2H2	335	360	8.67e-1	SMART
low complexity region	372	384	N/A	INTRINSIC
low complexity region	433	447	N/A	INTRINSIC
FH	492	573	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113329

SMART Domains

Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	191	N/A	INTRINSIC
low complexity region	200	233	N/A	INTRINSIC
low complexity region	236	250	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC
ZnF_C2H2	334	359	8.67e-1	SMART
low complexity region	371	383	N/A	INTRINSIC
low complexity region	432	446	N/A	INTRINSIC
FH	491	579	1.76e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124058

SMART Domains

Protein: ENSMUSP00000120244
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	10	62	N/A	INTRINSIC
low complexity region	71	104	N/A	INTRINSIC
low complexity region	107	121	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC
low complexity region	188	201	N/A	INTRINSIC
ZnF_C2H2	205	230	8.67e-1	SMART
low complexity region	242	254	N/A	INTRINSIC
low complexity region	303	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176850

SMART Domains

Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	108	160	N/A	INTRINSIC
low complexity region	169	203	N/A	INTRINSIC
low complexity region	206	220	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
low complexity region	287	300	N/A	INTRINSIC
ZnF_C2H2	304	329	8.67e-1	SMART
low complexity region	341	353	N/A	INTRINSIC
low complexity region	402	416	N/A	INTRINSIC
FH	461	542	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177229

SMART Domains

Protein: ENSMUSP00000134817
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	10	62	N/A	INTRINSIC
low complexity region	71	105	N/A	INTRINSIC
low complexity region	108	122	N/A	INTRINSIC
low complexity region	136	147	N/A	INTRINSIC
low complexity region	189	202	N/A	INTRINSIC
ZnF_C2H2	206	231	8.67e-1	SMART
low complexity region	243	255	N/A	INTRINSIC
low complexity region	304	318	N/A	INTRINSIC
FH	363	444	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177230

SMART Domains

Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	108	160	N/A	INTRINSIC
low complexity region	169	203	N/A	INTRINSIC
low complexity region	206	220	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
low complexity region	287	300	N/A	INTRINSIC
ZnF_C2H2	304	329	8.67e-1	SMART
low complexity region	341	353	N/A	INTRINSIC
low complexity region	402	416	N/A	INTRINSIC
FH	461	542	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177437

SMART Domains

Protein: ENSMUSP00000135809
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	10	61	N/A	INTRINSIC
low complexity region	70	104	N/A	INTRINSIC
low complexity region	107	121	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC
low complexity region	188	201	N/A	INTRINSIC
ZnF_C2H2	205	230	8.67e-1	SMART
low complexity region	242	254	N/A	INTRINSIC
low complexity region	303	317	N/A	INTRINSIC
FH	362	443	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177307

SMART Domains

Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	192	N/A	INTRINSIC
low complexity region	201	235	N/A	INTRINSIC
low complexity region	238	252	N/A	INTRINSIC
low complexity region	266	277	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC
ZnF_C2H2	336	361	8.67e-1	SMART
low complexity region	373	385	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
FH	492	573	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176565

SMART Domains

Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	113	N/A	INTRINSIC
low complexity region	140	191	N/A	INTRINSIC
low complexity region	200	234	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
ZnF_C2H2	335	360	8.67e-1	SMART
low complexity region	372	384	N/A	INTRINSIC
low complexity region	433	447	N/A	INTRINSIC
FH	491	572	2.07e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176632

SMART Domains

Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	108	159	N/A	INTRINSIC
low complexity region	168	202	N/A	INTRINSIC
low complexity region	205	219	N/A	INTRINSIC
low complexity region	233	244	N/A	INTRINSIC
low complexity region	286	299	N/A	INTRINSIC
ZnF_C2H2	303	328	8.67e-1	SMART
low complexity region	340	352	N/A	INTRINSIC
low complexity region	401	415	N/A	INTRINSIC
FH	460	541	2.07e-39	SMART

Coding Region Coverage

1x: 89.1%
3x: 86.1%
10x: 78.0%
20x: 64.7%

Validation Efficiency

99% (86/87)

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal outflow tract septation, ventricular septal defects, abnormal cardiac valve morphology, decreased and irregular heart rate, thin ventricular compact zone, and edema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dazl	T	C	17: 152,705,859 (NCBIm37)	T212A	probably damaging	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Emid1	A	T	11: 5,139,704 (GRCm38)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	Het

Other mutations in Foxp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Foxp1	APN	6	98,922,561 (GRCm39)	missense	probably damaging	0.99
IGL02330:Foxp1	APN	6	98,922,373 (GRCm39)	missense	probably damaging	1.00
IGL02869:Foxp1	APN	6	98,907,044 (GRCm39)	utr 3 prime	probably benign
IGL02968:Foxp1	APN	6	99,052,822 (GRCm39)	missense	probably damaging	1.00
Foxy	UTSW	6	98,992,471 (GRCm39)	nonsense	probably null
Moxie	UTSW	6	98,992,475 (GRCm39)	critical splice acceptor site	probably null
Roxie	UTSW	6	98,918,595 (GRCm39)	missense	unknown
R0037:Foxp1	UTSW	6	99,139,930 (GRCm39)	missense	probably damaging	1.00
R0063:Foxp1	UTSW	6	98,921,684 (GRCm39)	splice site	probably benign
R0427:Foxp1	UTSW	6	98,907,164 (GRCm39)	missense	probably damaging	1.00
R0601:Foxp1	UTSW	6	98,907,083 (GRCm39)	missense	probably damaging	1.00
R1356:Foxp1	UTSW	6	98,993,637 (GRCm39)	splice site	probably benign
R1468:Foxp1	UTSW	6	98,955,181 (GRCm39)	missense	possibly damaging	0.62
R1468:Foxp1	UTSW	6	98,955,181 (GRCm39)	missense	possibly damaging	0.62
R1548:Foxp1	UTSW	6	98,922,381 (GRCm39)	missense	probably damaging	1.00
R1696:Foxp1	UTSW	6	98,922,663 (GRCm39)	missense	probably benign	0.18
R1933:Foxp1	UTSW	6	99,052,926 (GRCm39)	small deletion	probably benign
R2152:Foxp1	UTSW	6	98,993,502 (GRCm39)	missense	probably damaging	0.99
R2338:Foxp1	UTSW	6	98,980,254 (GRCm39)	missense	possibly damaging	0.61
R3896:Foxp1	UTSW	6	99,052,897 (GRCm39)	missense	probably benign	0.33
R5006:Foxp1	UTSW	6	99,139,819 (GRCm39)	missense	probably damaging	0.98
R5143:Foxp1	UTSW	6	98,922,493 (GRCm39)	critical splice donor site	probably null
R5428:Foxp1	UTSW	6	98,993,592 (GRCm39)	missense	probably damaging	1.00
R5765:Foxp1	UTSW	6	98,992,423 (GRCm39)	missense	probably damaging	0.99
R5816:Foxp1	UTSW	6	99,052,926 (GRCm39)	small deletion	probably benign
R6172:Foxp1	UTSW	6	98,992,475 (GRCm39)	critical splice acceptor site	probably null
R6172:Foxp1	UTSW	6	98,992,471 (GRCm39)	nonsense	probably null
R6173:Foxp1	UTSW	6	98,992,475 (GRCm39)	critical splice acceptor site	probably null
R6173:Foxp1	UTSW	6	98,992,471 (GRCm39)	nonsense	probably null
R6175:Foxp1	UTSW	6	98,943,037 (GRCm39)	missense	probably damaging	1.00
R6776:Foxp1	UTSW	6	99,052,926 (GRCm39)	small deletion	probably benign
R6782:Foxp1	UTSW	6	98,907,106 (GRCm39)	missense	probably damaging	1.00
R7229:Foxp1	UTSW	6	98,912,373 (GRCm39)	missense	unknown
R7559:Foxp1	UTSW	6	98,922,521 (GRCm39)	missense	unknown
R7715:Foxp1	UTSW	6	98,922,621 (GRCm39)	missense	unknown
R8007:Foxp1	UTSW	6	98,918,595 (GRCm39)	missense	unknown
R8099:Foxp1	UTSW	6	98,922,510 (GRCm39)	missense	unknown
R8317:Foxp1	UTSW	6	99,052,866 (GRCm39)	small deletion	probably benign
R8408:Foxp1	UTSW	6	98,922,543 (GRCm39)	missense	unknown
R8704:Foxp1	UTSW	6	98,993,507 (GRCm39)	missense	unknown
R8705:Foxp1	UTSW	6	98,993,507 (GRCm39)	missense	unknown
R9014:Foxp1	UTSW	6	99,052,866 (GRCm39)	small deletion	probably benign
R9147:Foxp1	UTSW	6	99,052,866 (GRCm39)	small deletion	probably benign
R9399:Foxp1	UTSW	6	99,052,866 (GRCm39)	small deletion	probably benign
R9604:Foxp1	UTSW	6	99,052,926 (GRCm39)	small deletion	probably benign
X0066:Foxp1	UTSW	6	99,052,976 (GRCm39)	nonsense	probably null
Z1177:Foxp1	UTSW	6	98,955,122 (GRCm39)	missense	unknown

Posted On

2013-01-20