Mutagenetix > Incidental Mutations

Incidental Mutation 'R6338:Frmpd1'

514313

Institutional Source

Beutler Lab

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45274489 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 466 (V466I)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044773
AA Change: V466I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: V466I

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 benign
Transcript: ENSMUST00000107804
AA Change: V466I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: V466I

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: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly damaging	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
R0094:Frmpd1	UTSW	4	45284899	nonsense	probably null
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
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'- TGCGAATAGAAACTGATTTCCCTTC -3'
(R):5'- AGAGCGTCTTGGGATGATGC -3'

Sequencing Primer
(F):5'- ACCCGTCTGCAGTTACAGGATAG -3'
(R):5'- ATGCAGGCTCCGTTTGC -3'

Posted On

2018-04-27