Mutagenetix > Incidental Mutation

Incidental Mutation 'R5143:Foxp1'

396518

Institutional Source

Beutler Lab

Gene Symbol

Foxp1

Ensembl Gene

ENSMUSG00000030067

Gene Name

forkhead box P1

Synonyms

3110052D19Rik, 4932443N09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98902299-99499682 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 98922493 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] [ENSMUST00000176850] [ENSMUST00000176565] [ENSMUST00000176632] [ENSMUST00000176632] [ENSMUST00000177229] [ENSMUST00000177230] [ENSMUST00000177307] [ENSMUST00000177437]

AlphaFold

P58462

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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

Predicted Effect

probably null
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

Predicted Effect

probably null
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 null
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 null
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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,064 (GRCm39)		probably null	Het
Abcc2	T	C	19: 43,810,100 (GRCm39)	I886T	probably benign	Het
Adrb2	T	C	18: 62,311,847 (GRCm39)	Y326C	probably damaging	Het
Aplp1	G	A	7: 30,140,548 (GRCm39)	R334C	probably damaging	Het
AY358078	T	C	14: 52,040,006 (GRCm39)	S39P	unknown	Het
Bpifb2	A	T	2: 153,720,424 (GRCm39)	D61V	probably damaging	Het
Caap1	A	T	4: 94,389,619 (GRCm39)	N238K	probably damaging	Het
Cfap54	A	G	10: 92,865,020 (GRCm39)	V726A	possibly damaging	Het
Chrna7	T	C	7: 62,755,895 (GRCm39)	Y217C	probably damaging	Het
Crocc	T	A	4: 140,768,350 (GRCm39)	T414S	probably benign	Het
Cyp2a12	A	G	7: 26,736,036 (GRCm39)	I482V	probably benign	Het
Dnah6	A	T	6: 73,158,744 (GRCm39)	F620I	possibly damaging	Het
Eogt	A	G	6: 97,102,545 (GRCm39)	L256P	probably damaging	Het
F5	A	G	1: 164,039,397 (GRCm39)	I2002M	probably damaging	Het
Fut8	A	G	12: 77,411,983 (GRCm39)	D111G	probably benign	Het
Golgb1	C	T	16: 36,719,051 (GRCm39)	A319V	probably benign	Het
Hoxd3	C	T	2: 74,576,716 (GRCm39)	R39C	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Or52b1	T	A	7: 104,978,731 (GRCm39)	I223F	probably damaging	Het
Pate8	T	A	9: 36,493,200 (GRCm39)	N41Y	probably benign	Het
Pcdhb2	A	G	18: 37,429,785 (GRCm39)	Y586C	probably damaging	Het
Plcd1	G	A	9: 118,903,519 (GRCm39)	Q442*	probably null	Het
Plppr5	A	G	3: 117,419,552 (GRCm39)	T207A	probably benign	Het
Pomt1	C	A	2: 32,144,341 (GRCm39)	A709E	probably benign	Het
Prmt8	A	G	6: 127,709,677 (GRCm39)	M61T	probably benign	Het
Ptpn23	A	G	9: 110,214,506 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 110,021,747 (GRCm39)	K493*	probably null	Het
Semp2l2a	A	G	8: 13,886,844 (GRCm39)	S416P	possibly damaging	Het
Tmc2	A	T	2: 130,076,738 (GRCm39)	S355C	probably damaging	Het
Tonsl	A	G	15: 76,520,857 (GRCm39)	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,863,050 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,568,409 (GRCm39)	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,490,685 (GRCm39)	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,804,120 (GRCm39)	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,553,979 (GRCm39)	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,645,948 (GRCm39)	V41A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCATTTCACGGTCCATGTTATTTAC -3'
(R):5'- CAAGTGTCACCCTCTCCAAG -3'

Sequencing Primer
(F):5'- CTTACCTGCCTGATTAAAGATGC -3'
(R):5'- TCTCCAAGTCTGCCTCAGAGG -3'

Posted On

2016-06-21