Mutagenetix > Incidental Mutation

Incidental Mutation 'R1356:Foxp1'

156320

Institutional Source

Beutler Lab

Gene Symbol

Foxp1

Ensembl Gene

ENSMUSG00000030067

Gene Name

forkhead box P1

Synonyms

3110052D19Rik, 4932443N09Rik

MMRRC Submission

039421-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98902299-99499682 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 98993637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000177230] [ENSMUST00000154163] [ENSMUST00000176632] [ENSMUST00000175886] [ENSMUST00000177507] [ENSMUST00000176565] [ENSMUST00000177229] [ENSMUST00000123992] [ENSMUST00000124058] [ENSMUST00000176850] [ENSMUST00000177437] [ENSMUST00000175670] [ENSMUST00000177307]

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

noncoding transcript
Transcript: ENSMUST00000113321

SMART Domains

Protein: ENSMUSP00000108947
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	124	N/A	INTRINSIC

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: 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: ENSMUST00000154163

SMART Domains

Protein: ENSMUSP00000121404
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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175886

SMART Domains

Protein: ENSMUSP00000135517
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	10	62	N/A	INTRINSIC
low complexity region	71	105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177507

SMART Domains

Protein: ENSMUSP00000134869
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
low complexity region	10	61	N/A	INTRINSIC
low complexity region	70	104	N/A	INTRINSIC

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: 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: ENSMUST00000123992

SMART Domains

Protein: ENSMUSP00000117550
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

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: 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: ENSMUST00000175670

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (34/34)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,112 (GRCm39)		probably benign	Het
Adam18	A	G	8: 25,158,611 (GRCm39)		probably benign	Het
Cd274	C	A	19: 29,350,970 (GRCm39)	T22K	possibly damaging	Het
Cfap45	G	A	1: 172,355,430 (GRCm39)	R26Q	possibly damaging	Het
Dvl3	AGCGGCGGCGGCGG	AGCGGCGGCGG	16: 20,343,055 (GRCm39)		probably benign	Het
E2f8	A	G	7: 48,530,018 (GRCm39)		probably benign	Het
Ercc4	A	G	16: 12,943,146 (GRCm39)	H255R	probably damaging	Het
Fam227b	C	T	2: 125,960,928 (GRCm39)	D234N	probably damaging	Het
Fsip2	T	A	2: 82,820,089 (GRCm39)	V5274D	probably benign	Het
Gm21718	A	G	14: 51,554,104 (GRCm39)		noncoding transcript	Het
Gpr85	G	A	6: 13,836,146 (GRCm39)	P253S	probably benign	Het
Grm7	A	T	6: 111,335,985 (GRCm39)	I799F	probably damaging	Het
Inpp1	A	G	1: 52,836,215 (GRCm39)	F84L	possibly damaging	Het
Kprp	T	A	3: 92,732,909 (GRCm39)	E47V	probably damaging	Het
Krt9	CTGC	CTGCNNNNNNNNNNNNNNNNNNNNNTGC	11: 100,079,640 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,633,634 (GRCm39)		probably benign	Het
Lurap1l	C	G	4: 80,829,767 (GRCm39)	A59G	probably benign	Het
Macc1	A	T	12: 119,410,290 (GRCm39)	T353S	probably benign	Het
Mctp2	A	G	7: 71,814,471 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,700,334 (GRCm39)		probably benign	Het
Mpeg1	T	A	19: 12,438,689 (GRCm39)	V49D	probably damaging	Het
Nos2	C	T	11: 78,843,629 (GRCm39)	P859S	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Parn	A	T	16: 13,468,538 (GRCm39)	Y214*	probably null	Het
Pibf1	A	G	14: 99,374,632 (GRCm39)	E357G	possibly damaging	Het
Prex2	C	T	1: 11,150,316 (GRCm39)	Q163*	probably null	Het
Prune2	T	A	19: 17,189,681 (GRCm39)	S294T	probably benign	Het
Slc46a1	A	G	11: 78,361,550 (GRCm39)	N399D	probably benign	Het
Sstr2	T	C	11: 113,515,720 (GRCm39)	F213S	probably damaging	Het
Tnxb	A	G	17: 34,914,446 (GRCm39)	E1967G	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,218 (GRCm39)	*866Q	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCATTCTCCAACAGGGAAAGC -3'
(R):5'- TTCTGCCAGCAGCAAAGCCAAG -3'

Sequencing Primer
(F):5'- TCTCCAACAGGGAAAGCAACTG -3'
(R):5'- cccagcatctgtgatgcc -3'

Posted On

2014-02-11