Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02942:Frmpd1'

364554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmpd1

Ensembl Gene

ENSMUSG00000035615

Gene Name

FERM and PDZ domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02942

Quality Score

Status

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45285493 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1438 (Q1438L)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044773
AA Change: Q1438L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: Q1438L

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 damaging
Transcript: ENSMUST00000107804
AA Change: Q1438L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: Q1438L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	C	15: 91,149,175	D679E	probably damaging	Het
Adh6a	A	T	3: 138,324,881	D88V	probably damaging	Het
Ank3	G	A	10: 69,973,877	V1123I	probably damaging	Het
Apba1	T	C	19: 23,944,971	V801A	possibly damaging	Het
Bcl2a1a	C	T	9: 88,957,042		probably benign	Het
Brd8	A	G	18: 34,610,627	V215A	possibly damaging	Het
Cdk17	G	A	10: 93,238,968	V454I	probably benign	Het
Chd5	G	A	4: 152,385,725	G1876D	probably damaging	Het
Clec4g	T	C	8: 3,718,356	E125G	probably damaging	Het
Col24a1	G	A	3: 145,541,665	G1602D	probably damaging	Het
Depdc7	A	C	2: 104,728,094	L194R	probably damaging	Het
Dgke	T	G	11: 89,055,369	N202H	probably benign	Het
Dkk2	T	A	3: 132,178,037	C233S	probably damaging	Het
Dmpk	A	C	7: 19,092,241	D542A	probably damaging	Het
Epb41l4a	G	A	18: 33,874,201	R246W	probably damaging	Het
Gcgr	A	G	11: 120,536,817		probably null	Het
Gm10295	T	C	7: 71,350,502	K110R	unknown	Het
Ifrd1	A	G	12: 40,217,376		probably null	Het
Inpp5f	A	G	7: 128,694,900	T365A	probably benign	Het
Kcnn3	A	G	3: 89,652,076	K551R	probably benign	Het
Lama2	A	T	10: 27,041,220	N2236K	probably damaging	Het
Larp7	A	T	3: 127,544,195	I405N	possibly damaging	Het
Meltf	C	A	16: 31,890,778	Y432*	probably null	Het
Mst1r	C	A	9: 107,913,153	T655K	possibly damaging	Het
Myh1	C	T	11: 67,202,482	P133L	probably damaging	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr1454	A	T	19: 13,064,188	Q259L	probably benign	Het
Olfr2	A	G	7: 107,001,354	S169P	possibly damaging	Het
Olfr584	A	T	7: 103,086,198	M222L	probably benign	Het
Pfkl	A	T	10: 78,000,133		probably null	Het
Plekhb2	T	C	1: 34,876,992	M204T	probably damaging	Het
Ptp4a2	G	A	4: 129,845,193		probably null	Het
Rtp4	A	G	16: 23,612,954	T79A	probably benign	Het
Senp3	T	C	11: 69,677,989	D410G	probably benign	Het
Slc16a5	T	C	11: 115,469,350	F120L	possibly damaging	Het
Snrpe	T	C	1: 133,608,931	E37G	probably damaging	Het
Sorcs1	T	C	19: 50,475,437	T192A	probably damaging	Het
Spef2	T	A	15: 9,668,874	H742L	possibly damaging	Het
Syt12	T	C	19: 4,447,830	S375G	probably benign	Het
Tas2r117	T	C	6: 132,803,694	L265P	probably benign	Het
Tcp10a	T	A	17: 7,329,919	D158E	probably damaging	Het
Tesk2	A	T	4: 116,771,820	H122L	probably damaging	Het
Unc93b1	T	A	19: 3,948,686	M535K	probably damaging	Het
Vangl1	C	A	3: 102,184,031	R246S	probably damaging	Het
Xpo5	C	T	17: 46,208,133	T166I	probably damaging	Het
Zcchc6	T	G	13: 59,811,521	N378H	probably damaging	Het
Zmiz2	T	C	11: 6,399,500		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
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
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

Posted On

2015-12-18