Mutagenetix > Incidental Mutations

Incidental Mutation 'R0094:Frmpd1'

63996

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

038380-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0094 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 45284899 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 1240 (S1240*)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804]

Predicted Effect

probably null
Transcript: ENSMUST00000044773
AA Change: S1240*

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: S1240*

Domain	Start	End	E-Value	Type
PDZ	67	135	5.72e-10	SMART
B41	177	401	4.85e-30	SMART
low complexity region	523	537	N/A	INTRINSIC
low complexity region	578	597	N/A	INTRINSIC
PDB:4G2V\|B	901	938	2e-15	PDB
low complexity region	962	980	N/A	INTRINSIC
low complexity region	1019	1030	N/A	INTRINSIC
low complexity region	1115	1130	N/A	INTRINSIC
Blast:B41	1264	1488	3e-44	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000107804
AA Change: S1240*

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: S1240*

Domain	Start	End	E-Value	Type
PDZ	67	135	5.72e-10	SMART
B41	177	401	4.85e-30	SMART
low complexity region	523	537	N/A	INTRINSIC
low complexity region	578	597	N/A	INTRINSIC
PDB:4G2V\|B	901	938	2e-15	PDB
low complexity region	962	980	N/A	INTRINSIC
low complexity region	1019	1030	N/A	INTRINSIC
low complexity region	1115	1130	N/A	INTRINSIC
Blast:B41	1264	1488	3e-44	BLAST

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,306,886	T185S	possibly damaging	Het
Amotl1	A	G	9: 14,575,387	S441P	probably benign	Het
Ap5z1	G	A	5: 142,476,812	V626M	probably benign	Het
Cacna2d3	C	T	14: 29,170,503		probably null	Het
Cfap77	A	T	2: 28,984,434	V128D	probably damaging	Het
Colgalt1	T	C	8: 71,623,158	V483A	probably damaging	Het
Dcdc2b	T	C	4: 129,610,311		probably null	Het
Dsg2	A	T	18: 20,591,853	T439S	probably benign	Het
Dtx1	A	G	5: 120,682,624	Y455H	probably damaging	Het
Gypa	T	A	8: 80,500,931	H69Q	unknown	Het
Mfap5	G	A	6: 122,525,992	V54I	probably damaging	Het
Mroh7	C	T	4: 106,703,184	G641E	probably damaging	Het
Mvd	C	T	8: 122,439,703	R65H	probably benign	Het
Olfr293	A	G	7: 86,664,294	S211G	probably benign	Het
Pigs	T	A	11: 78,340,038	N370K	probably damaging	Het
Pkd1	A	G	17: 24,581,276	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,209,246	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,386,352	Y495H	probably benign	Het
Rfc4	G	T	16: 23,115,428	Q208K	probably benign	Het
Rpa2	T	C	4: 132,770,582	S52P	probably damaging	Het
Sirpb1c	G	T	3: 15,838,758	T94K	possibly damaging	Het
Sis	A	T	3: 72,921,437	N1136K	probably damaging	Het
Spp2	T	A	1: 88,420,680		probably null	Het
Ubr3	C	T	2: 69,951,362	T628I	probably damaging	Het
Vmn1r213	A	G	13: 23,011,649	H134R	probably damaging	Het
Vmn2r59	T	C	7: 42,012,298	R698G	probably benign	Het

Other mutations in Frmpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Frmpd1	APN	4	45279456	missense	possibly damaging	0.61
IGL01678:Frmpd1	APN	4	45243717	missense	probably damaging	1.00
IGL01815:Frmpd1	APN	4	45284239	missense	probably benign
IGL02305:Frmpd1	APN	4	45249209	missense	probably damaging	1.00
IGL02347:Frmpd1	APN	4	45270023	splice site	probably null
IGL02586:Frmpd1	APN	4	45285160	missense	probably damaging	1.00
IGL02704:Frmpd1	APN	4	45285082	missense	possibly damaging	0.83
IGL02942:Frmpd1	APN	4	45285493	missense	probably damaging	0.99
IGL03353:Frmpd1	APN	4	45261926	missense	probably damaging	1.00
IGL03355:Frmpd1	APN	4	45279140	missense	probably damaging	1.00
IGL03401:Frmpd1	APN	4	45284383	missense	probably benign	0.28
IGL03047:Frmpd1	UTSW	4	45283993	missense	probably damaging	1.00
R0103:Frmpd1	UTSW	4	45229884	missense	probably damaging	0.99
R0103:Frmpd1	UTSW	4	45229884	missense	probably damaging	0.99
R0109:Frmpd1	UTSW	4	45279340	missense	probably benign	0.03
R0109:Frmpd1	UTSW	4	45279340	missense	probably benign	0.03
R0375:Frmpd1	UTSW	4	45284196	missense	probably benign	0.00
R0508:Frmpd1	UTSW	4	45284938	missense	unknown
R0524:Frmpd1	UTSW	4	45256902	missense	probably damaging	1.00
R0524:Frmpd1	UTSW	4	45283774	missense	probably benign	0.00
R0625:Frmpd1	UTSW	4	45284055	missense	probably benign
R0825:Frmpd1	UTSW	4	45285394	missense	possibly damaging	0.93
R0926:Frmpd1	UTSW	4	45268497	missense	probably damaging	1.00
R0975:Frmpd1	UTSW	4	45279000	missense	probably benign	0.01
R1465:Frmpd1	UTSW	4	45273197	missense	probably damaging	1.00
R1465:Frmpd1	UTSW	4	45273197	missense	probably damaging	1.00
R1573:Frmpd1	UTSW	4	45283932	missense	probably benign	0.01
R1938:Frmpd1	UTSW	4	45283711	missense	probably damaging	1.00
R2334:Frmpd1	UTSW	4	45285408	missense	probably damaging	0.97
R2413:Frmpd1	UTSW	4	45278969	missense	probably benign	0.02
R2760:Frmpd1	UTSW	4	45244667	missense	possibly damaging	0.77
R3856:Frmpd1	UTSW	4	45283698	missense	probably damaging	1.00
R3876:Frmpd1	UTSW	4	45284093	missense	probably benign	0.01
R4080:Frmpd1	UTSW	4	45284382	missense	probably benign
R4597:Frmpd1	UTSW	4	45274441	missense	probably benign	0.12
R4714:Frmpd1	UTSW	4	45284785	missense	probably benign	0.11
R4779:Frmpd1	UTSW	4	45229865	missense	probably damaging	1.00
R4957:Frmpd1	UTSW	4	45273099	missense	probably damaging	1.00
R5000:Frmpd1	UTSW	4	45261931	splice site	probably null
R5041:Frmpd1	UTSW	4	45278878	missense	probably damaging	1.00
R5228:Frmpd1	UTSW	4	45284322	missense	probably damaging	0.98
R5413:Frmpd1	UTSW	4	45249196	missense	probably benign	0.00
R5560:Frmpd1	UTSW	4	45243697	missense	probably damaging	1.00
R6133:Frmpd1	UTSW	4	45284915	missense	probably benign	0.01
R6158:Frmpd1	UTSW	4	45285401	missense	probably damaging	1.00
R6329:Frmpd1	UTSW	4	45268551	missense	possibly damaging	0.80
R6338:Frmpd1	UTSW	4	45274489	missense	probably benign	0.00
R6544:Frmpd1	UTSW	4	45279024	missense	probably damaging	1.00
R6728:Frmpd1	UTSW	4	45284664	missense	probably benign
R6748:Frmpd1	UTSW	4	45274397	missense	probably benign	0.08
R6798:Frmpd1	UTSW	4	45284850	missense	probably benign	0.17
R6828:Frmpd1	UTSW	4	45275383	missense	probably damaging	0.99
R7002:Frmpd1	UTSW	4	45284200	missense	probably benign
R7258:Frmpd1	UTSW	4	45269974	missense	possibly damaging	0.79
R7295:Frmpd1	UTSW	4	45285700	missense	probably damaging	1.00
R7382:Frmpd1	UTSW	4	45278880	missense	probably benign	0.00
R7423:Frmpd1	UTSW	4	45256948	missense	probably damaging	1.00
R7451:Frmpd1	UTSW	4	45279558	missense	probably benign	0.11
R7492:Frmpd1	UTSW	4	45285237	missense	possibly damaging	0.71
R7524:Frmpd1	UTSW	4	45271181	missense	probably benign	0.16
R7610:Frmpd1	UTSW	4	45279098	missense	probably damaging	1.00
R7719:Frmpd1	UTSW	4	45284841	missense	possibly damaging	0.52
R7724:Frmpd1	UTSW	4	45229888	missense	probably damaging	1.00
R7891:Frmpd1	UTSW	4	45284478	missense	probably benign	0.06
R8010:Frmpd1	UTSW	4	45284272	missense	possibly damaging	0.51
R8260:Frmpd1	UTSW	4	45244638	missense	probably damaging	0.99
R8528:Frmpd1	UTSW	4	45285034	missense	probably benign
Z1088:Frmpd1	UTSW	4	45284080	missense	possibly damaging	0.93
Z1177:Frmpd1	UTSW	4	45275272	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGAAATAAACAGCTCCCTCTGC -3'
(R):5'- CAAAACTGAAGGAGGTGACCCTGC -3'

Sequencing Primer
(F):5'- GACCTCATCTGACTCTGAAGG -3'
(R):5'- GTGACCCTGCTGAGACTG -3'

Posted On

2013-08-06