Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03355:Frmpd1'

419916

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45279140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 622 (S622P)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

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

AlphaFold

A2AKB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044773
AA Change: S622P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: S622P

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: S622P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: S622P

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt1	T	C	X: 45,418,624 (GRCm39)	V213A	probably benign	Het
Adam28	A	T	14: 68,872,252 (GRCm39)		probably benign	Het
Apeh	T	C	9: 107,963,644 (GRCm39)	H557R	probably benign	Het
Atmin	T	A	8: 117,684,164 (GRCm39)	L608*	probably null	Het
B3gnt5	A	T	16: 19,587,903 (GRCm39)	M41L	probably benign	Het
Best3	T	C	10: 116,829,010 (GRCm39)	F97L	possibly damaging	Het
Chmp1b2	C	A	X: 106,831,889 (GRCm39)	V180F	possibly damaging	Het
Col7a1	G	A	9: 108,807,228 (GRCm39)	V2486M	unknown	Het
Crym	T	C	7: 119,798,536 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,482,868 (GRCm39)		probably null	Het
Dnah7b	A	G	1: 46,158,464 (GRCm39)	D349G	probably benign	Het
Eea1	T	C	10: 95,878,074 (GRCm39)		probably benign	Het
Emc1	C	T	4: 139,098,904 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,489,143 (GRCm39)		probably benign	Het
Ereg	A	G	5: 91,236,440 (GRCm39)		probably benign	Het
Faah	G	A	4: 115,859,725 (GRCm39)	P369S	probably benign	Het
Fam135a	A	T	1: 24,068,249 (GRCm39)	N703K	possibly damaging	Het
Gm10030	A	G	9: 110,835,841 (GRCm39)		noncoding transcript	Het
Gpr179	A	T	11: 97,228,434 (GRCm39)	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,904,754 (GRCm39)	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,693,445 (GRCm39)	N31D	possibly damaging	Het
Kel	C	T	6: 41,675,821 (GRCm39)		probably null	Het
Khk	A	T	5: 31,086,904 (GRCm39)	I108L	probably benign	Het
Morc4	T	C	X: 138,750,431 (GRCm39)	N375S	probably null	Het
Mta3	A	T	17: 84,107,474 (GRCm39)		probably benign	Het
Nacc2	T	C	2: 25,952,249 (GRCm39)	K369R	probably damaging	Het
Nkap	T	C	X: 36,403,323 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,928,618 (GRCm39)	L6016Q	probably damaging	Het
Or52e2	T	C	7: 102,804,408 (GRCm39)	E182G	probably damaging	Het
Or8c9	A	T	9: 38,240,952 (GRCm39)	Q20L	probably benign	Het
Pde4c	T	A	8: 71,199,244 (GRCm39)	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,548,284 (GRCm39)		probably null	Het
Rap1gap2	T	A	11: 74,303,170 (GRCm39)	I426F	probably damaging	Het
Rbm33	C	A	5: 28,596,059 (GRCm39)		probably benign	Het
Rnf139	C	A	15: 58,771,881 (GRCm39)	D635E	probably benign	Het
Sar1a	T	C	10: 61,520,718 (GRCm39)	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,366,766 (GRCm39)	S56A	probably benign	Het
Scn3a	T	C	2: 65,290,912 (GRCm39)	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,864,071 (GRCm39)	G118R	unknown	Het
Sgce	T	A	6: 4,689,738 (GRCm39)	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,770,232 (GRCm39)	Y277*	probably null	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Sphkap	A	T	1: 83,258,224 (GRCm39)	I173N	probably damaging	Het
Spred3	C	T	7: 28,860,997 (GRCm39)	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689 (GRCm39)	D283G	probably benign	Het
Tipin	A	T	9: 64,195,406 (GRCm39)	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,379,730 (GRCm39)	I380F	probably benign	Het
Tymp	T	C	15: 89,259,219 (GRCm39)	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,544 (GRCm39)	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,511,580 (GRCm39)	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,481,346 (GRCm39)	S1024P	possibly damaging	Het

Other mutations in Frmpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Frmpd1	APN	4	45,279,456 (GRCm39)	missense	possibly damaging	0.61
IGL01678:Frmpd1	APN	4	45,243,717 (GRCm39)	missense	probably damaging	1.00
IGL01815:Frmpd1	APN	4	45,284,239 (GRCm39)	missense	probably benign
IGL02305:Frmpd1	APN	4	45,249,209 (GRCm39)	missense	probably damaging	1.00
IGL02347:Frmpd1	APN	4	45,270,023 (GRCm39)	splice site	probably null
IGL02586:Frmpd1	APN	4	45,285,160 (GRCm39)	missense	probably damaging	1.00
IGL02704:Frmpd1	APN	4	45,285,082 (GRCm39)	missense	possibly damaging	0.83
IGL02942:Frmpd1	APN	4	45,285,493 (GRCm39)	missense	probably damaging	0.99
IGL03353:Frmpd1	APN	4	45,261,926 (GRCm39)	missense	probably damaging	1.00
IGL03401:Frmpd1	APN	4	45,284,383 (GRCm39)	missense	probably benign	0.28
IGL03047:Frmpd1	UTSW	4	45,283,993 (GRCm39)	missense	probably damaging	1.00
R0094:Frmpd1	UTSW	4	45,284,899 (GRCm39)	nonsense	probably null
R0103:Frmpd1	UTSW	4	45,229,884 (GRCm39)	missense	probably damaging	0.99
R0103:Frmpd1	UTSW	4	45,229,884 (GRCm39)	missense	probably damaging	0.99
R0109:Frmpd1	UTSW	4	45,279,340 (GRCm39)	missense	probably benign	0.03
R0109:Frmpd1	UTSW	4	45,279,340 (GRCm39)	missense	probably benign	0.03
R0375:Frmpd1	UTSW	4	45,284,196 (GRCm39)	missense	probably benign	0.00
R0508:Frmpd1	UTSW	4	45,284,938 (GRCm39)	missense	unknown
R0524:Frmpd1	UTSW	4	45,283,774 (GRCm39)	missense	probably benign	0.00
R0524:Frmpd1	UTSW	4	45,256,902 (GRCm39)	missense	probably damaging	1.00
R0625:Frmpd1	UTSW	4	45,284,055 (GRCm39)	missense	probably benign
R0825:Frmpd1	UTSW	4	45,285,394 (GRCm39)	missense	possibly damaging	0.93
R0926:Frmpd1	UTSW	4	45,268,497 (GRCm39)	missense	probably damaging	1.00
R0975:Frmpd1	UTSW	4	45,279,000 (GRCm39)	missense	probably benign	0.01
R1465:Frmpd1	UTSW	4	45,273,197 (GRCm39)	missense	probably damaging	1.00
R1465:Frmpd1	UTSW	4	45,273,197 (GRCm39)	missense	probably damaging	1.00
R1573:Frmpd1	UTSW	4	45,283,932 (GRCm39)	missense	probably benign	0.01
R1938:Frmpd1	UTSW	4	45,283,711 (GRCm39)	missense	probably damaging	1.00
R2334:Frmpd1	UTSW	4	45,285,408 (GRCm39)	missense	probably damaging	0.97
R2413:Frmpd1	UTSW	4	45,278,969 (GRCm39)	missense	probably benign	0.02
R2760:Frmpd1	UTSW	4	45,244,667 (GRCm39)	missense	possibly damaging	0.77
R3856:Frmpd1	UTSW	4	45,283,698 (GRCm39)	missense	probably damaging	1.00
R3876:Frmpd1	UTSW	4	45,284,093 (GRCm39)	missense	probably benign	0.01
R4080:Frmpd1	UTSW	4	45,284,382 (GRCm39)	missense	probably benign
R4597:Frmpd1	UTSW	4	45,274,441 (GRCm39)	missense	probably benign	0.12
R4714:Frmpd1	UTSW	4	45,284,785 (GRCm39)	missense	probably benign	0.11
R4779:Frmpd1	UTSW	4	45,229,865 (GRCm39)	missense	probably damaging	1.00
R4957:Frmpd1	UTSW	4	45,273,099 (GRCm39)	missense	probably damaging	1.00
R5000:Frmpd1	UTSW	4	45,261,931 (GRCm39)	splice site	probably null
R5041:Frmpd1	UTSW	4	45,278,878 (GRCm39)	missense	probably damaging	1.00
R5228:Frmpd1	UTSW	4	45,284,322 (GRCm39)	missense	probably damaging	0.98
R5413:Frmpd1	UTSW	4	45,249,196 (GRCm39)	missense	probably benign	0.00
R5560:Frmpd1	UTSW	4	45,243,697 (GRCm39)	missense	probably damaging	1.00
R6133:Frmpd1	UTSW	4	45,284,915 (GRCm39)	missense	probably benign	0.01
R6158:Frmpd1	UTSW	4	45,285,401 (GRCm39)	missense	probably damaging	1.00
R6329:Frmpd1	UTSW	4	45,268,551 (GRCm39)	missense	possibly damaging	0.80
R6338:Frmpd1	UTSW	4	45,274,489 (GRCm39)	missense	probably benign	0.00
R6544:Frmpd1	UTSW	4	45,279,024 (GRCm39)	missense	probably damaging	1.00
R6728:Frmpd1	UTSW	4	45,284,664 (GRCm39)	missense	probably benign
R6748:Frmpd1	UTSW	4	45,274,397 (GRCm39)	missense	probably benign	0.08
R6798:Frmpd1	UTSW	4	45,284,850 (GRCm39)	missense	probably benign	0.17
R6828:Frmpd1	UTSW	4	45,275,383 (GRCm39)	missense	probably damaging	0.99
R7002:Frmpd1	UTSW	4	45,284,200 (GRCm39)	missense	probably benign
R7258:Frmpd1	UTSW	4	45,269,974 (GRCm39)	missense	possibly damaging	0.79
R7295:Frmpd1	UTSW	4	45,285,700 (GRCm39)	missense	probably damaging	1.00
R7382:Frmpd1	UTSW	4	45,278,880 (GRCm39)	missense	probably benign	0.00
R7423:Frmpd1	UTSW	4	45,256,948 (GRCm39)	missense	probably damaging	1.00
R7451:Frmpd1	UTSW	4	45,279,558 (GRCm39)	missense	probably benign	0.11
R7492:Frmpd1	UTSW	4	45,285,237 (GRCm39)	missense	possibly damaging	0.71
R7524:Frmpd1	UTSW	4	45,271,181 (GRCm39)	missense	probably benign	0.16
R7610:Frmpd1	UTSW	4	45,279,098 (GRCm39)	missense	probably damaging	1.00
R7719:Frmpd1	UTSW	4	45,284,841 (GRCm39)	missense	possibly damaging	0.52
R7724:Frmpd1	UTSW	4	45,229,888 (GRCm39)	missense	probably damaging	1.00
R7891:Frmpd1	UTSW	4	45,284,478 (GRCm39)	missense	probably benign	0.06
R8010:Frmpd1	UTSW	4	45,284,272 (GRCm39)	missense	possibly damaging	0.51
R8260:Frmpd1	UTSW	4	45,244,638 (GRCm39)	missense	probably damaging	0.99
R8528:Frmpd1	UTSW	4	45,285,034 (GRCm39)	missense	probably benign
R8794:Frmpd1	UTSW	4	45,279,632 (GRCm39)	missense	probably benign	0.00
R8798:Frmpd1	UTSW	4	45,285,424 (GRCm39)	missense	possibly damaging	0.95
R8954:Frmpd1	UTSW	4	45,284,702 (GRCm39)	missense	probably benign	0.02
R9058:Frmpd1	UTSW	4	45,283,948 (GRCm39)	missense	probably damaging	1.00
R9178:Frmpd1	UTSW	4	45,285,367 (GRCm39)	missense	probably damaging	1.00
R9281:Frmpd1	UTSW	4	45,284,127 (GRCm39)	missense	probably benign	0.11
R9408:Frmpd1	UTSW	4	45,279,182 (GRCm39)	missense	probably benign	0.00
R9532:Frmpd1	UTSW	4	45,278,886 (GRCm39)	missense
Z1088:Frmpd1	UTSW	4	45,284,080 (GRCm39)	missense	possibly damaging	0.93
Z1177:Frmpd1	UTSW	4	45,275,272 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02