Mutagenetix > Incidental Mutations

Incidental Mutation 'R1933:Foxp1'

215558

Institutional Source

Beutler Lab

Gene Symbol

Foxp1

Ensembl Gene

ENSMUSG00000030067

Gene Name

forkhead box P1

Synonyms

4932443N09Rik, 3110052D19Rik

MMRRC Submission

039951-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1933 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

98925338-99522721 bp(-) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG to TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG at 99075965 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000175886] [ENSMUST00000176565] [ENSMUST00000176632] [ENSMUST00000176850] [ENSMUST00000177208] [ENSMUST00000177230] [ENSMUST00000177307]

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: 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: 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

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: ENSMUST00000177208

SMART Domains

Protein: ENSMUSP00000135187
Gene: ENSMUSG00000030067

Domain	Start	End	E-Value	Type
coiled coil region	62	88	N/A	INTRINSIC

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: 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

noncoding transcript
Transcript: ENSMUST00000200105

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Bsn	A	G	9: 108,116,444	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859	V63E	probably benign	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,688,539	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214	S1963P	probably benign	Het
Efl1	C	T	7: 82,763,117	Q905*	probably null	Het
Fam57b	T	A	7: 126,827,672		probably null	Het
Farsa	T	C	8: 84,861,151	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650	N401K	probably benign	Het
Frem3	A	G	8: 80,612,890	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862	E441*	probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Il21	C	T	3: 37,232,486	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Lrrtm3	A	G	10: 64,088,513	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647	K490*	probably null	Het
Myh14	C	T	7: 44,615,348	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262	*553W	probably null	Het
Psma3	T	A	12: 70,984,694	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,876,121	E8G	probably damaging	Het
Sgcg	C	T	14: 61,232,412	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262	V367M	probably damaging	Het
Spata31	T	C	13: 64,920,610	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350	I505T	probably damaging	Het
St14	G	A	9: 31,106,212	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238		probably benign	Het
Zfp451	T	C	1: 33,777,822	K132R	probably damaging	Het

Other mutations in Foxp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Foxp1	APN	6	98945600	missense	probably damaging	0.99
IGL02330:Foxp1	APN	6	98945412	missense	probably damaging	1.00
IGL02869:Foxp1	APN	6	98930083	utr 3 prime	probably benign
IGL02968:Foxp1	APN	6	99075861	missense	probably damaging	1.00
Foxy	UTSW	6	99015510	nonsense	probably null
Moxie	UTSW	6	99015514	critical splice acceptor site	probably null
Roxie	UTSW	6	98941634	missense	unknown
R0037:Foxp1	UTSW	6	99162969	missense	probably damaging	1.00
R0063:Foxp1	UTSW	6	98944723	splice site	probably benign
R0063:Foxp1	UTSW	6	98944723	splice site	probably benign
R0427:Foxp1	UTSW	6	98930203	missense	probably damaging	1.00
R0601:Foxp1	UTSW	6	98930122	missense	probably damaging	1.00
R1356:Foxp1	UTSW	6	99016676	splice site	probably benign
R1468:Foxp1	UTSW	6	98978220	missense	possibly damaging	0.62
R1468:Foxp1	UTSW	6	98978220	missense	possibly damaging	0.62
R1548:Foxp1	UTSW	6	98945420	missense	probably damaging	1.00
R1696:Foxp1	UTSW	6	98945702	missense	probably benign	0.18
R2152:Foxp1	UTSW	6	99016541	missense	probably damaging	0.99
R2338:Foxp1	UTSW	6	99003293	missense	possibly damaging	0.61
R3896:Foxp1	UTSW	6	99075936	missense	probably benign	0.33
R5006:Foxp1	UTSW	6	99162858	missense	probably damaging	0.98
R5143:Foxp1	UTSW	6	98945532	critical splice donor site	probably null
R5428:Foxp1	UTSW	6	99016631	missense	probably damaging	1.00
R5765:Foxp1	UTSW	6	99015462	missense	probably damaging	0.99
R5816:Foxp1	UTSW	6	99075965	small deletion	probably benign
R6172:Foxp1	UTSW	6	99015510	nonsense	probably null
R6172:Foxp1	UTSW	6	99015514	critical splice acceptor site	probably null
R6173:Foxp1	UTSW	6	99015510	nonsense	probably null
R6173:Foxp1	UTSW	6	99015514	critical splice acceptor site	probably null
R6175:Foxp1	UTSW	6	98966076	missense	probably damaging	1.00
R6776:Foxp1	UTSW	6	99075965	small deletion	probably benign
R6782:Foxp1	UTSW	6	98930145	missense	probably damaging	1.00
R7229:Foxp1	UTSW	6	98935412	missense	unknown
R7559:Foxp1	UTSW	6	98945560	missense	unknown
R7715:Foxp1	UTSW	6	98945660	missense	unknown
R8007:Foxp1	UTSW	6	98941634	missense	unknown
R8099:Foxp1	UTSW	6	98945549	missense	unknown
R8317:Foxp1	UTSW	6	99075905	small deletion	probably benign
R8408:Foxp1	UTSW	6	98945582	missense	unknown
X0066:Foxp1	UTSW	6	99076015	nonsense	probably null
Z1177:Foxp1	UTSW	6	98978161	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACACATTTTGCGCAAGTTTTCC -3'
(R):5'- GAAGGGGTTTTCCTGAGATCC -3'

Sequencing Primer
(F):5'- GATAATATCCACTTCTGCAAGGC -3'
(R):5'- TGAGATCCACTTCGTGAGGAC -3'

Posted On

2014-07-14