Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02586:Frmpd1'

299561

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 #

IGL02586

Quality Score

Status

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45285160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1327 (D1327G)

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: D1327G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: D1327G

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: D1327G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: D1327G

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,983 (GRCm39)	I1949V	possibly damaging	Het
Anapc2	T	A	2: 25,175,108 (GRCm39)	M742K	probably benign	Het
Arhgef12	T	A	9: 42,917,200 (GRCm39)	K380*	probably null	Het
Armc1	G	T	3: 19,188,192 (GRCm39)		probably benign	Het
Bltp1	G	A	3: 37,098,757 (GRCm39)	W4626*	probably null	Het
Diaph3	A	T	14: 87,223,512 (GRCm39)	L323*	probably null	Het
Fbxo11	C	T	17: 88,318,711 (GRCm39)		probably benign	Het
Flywch1	C	T	17: 23,974,676 (GRCm39)	A655T	probably benign	Het
Ggact	G	A	14: 123,128,942 (GRCm39)	T91I	possibly damaging	Het
Gm10250	T	A	15: 5,150,412 (GRCm39)		probably benign	Het
Gsdmc4	T	C	15: 63,765,641 (GRCm39)	S303G	probably damaging	Het
Helt	T	C	8: 46,746,276 (GRCm39)	E15G	probably damaging	Het
Kcnf1	T	A	12: 17,226,144 (GRCm39)	S26C	probably benign	Het
Lilra6	T	C	7: 3,911,819 (GRCm39)	T280A	probably benign	Het
Lipo3	A	T	19: 33,559,539 (GRCm39)	D110E	possibly damaging	Het
Mepe	C	A	5: 104,485,316 (GRCm39)	T152N	probably benign	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,260,810 (GRCm39)	D121G	possibly damaging	Het
Or6c214	A	G	10: 129,590,524 (GRCm39)	I265T	possibly damaging	Het
Peg3	T	C	7: 6,713,068 (GRCm39)	D718G	probably benign	Het
Phf2	A	T	13: 48,967,334 (GRCm39)		probably benign	Het
Pigc	A	T	1: 161,798,503 (GRCm39)	I162F	probably benign	Het
Raf1	A	G	6: 115,597,267 (GRCm39)	L11P	probably damaging	Het
Rlf	T	C	4: 121,007,261 (GRCm39)	Y573C	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rnf149	T	G	1: 39,604,296 (GRCm39)	Q189P	probably benign	Het
Slc11a1	T	C	1: 74,424,291 (GRCm39)		probably benign	Het
Slc22a12	C	T	19: 6,590,487 (GRCm39)	M234I	probably benign	Het
Slc28a1	A	T	7: 80,814,167 (GRCm39)	I455F	probably benign	Het
Slc35f5	T	G	1: 125,512,273 (GRCm39)	L358V	probably damaging	Het
Slc47a1	A	T	11: 61,235,147 (GRCm39)	V562D	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ushbp1	T	C	8: 71,841,394 (GRCm39)		probably benign	Het
Vmn1r88	T	A	7: 12,911,735 (GRCm39)	Y30*	probably null	Het
Vmn2r27	A	T	6: 124,201,434 (GRCm39)	Y174*	probably null	Het
Wwox	T	C	8: 115,438,947 (GRCm39)	Y338H	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zup1	A	T	10: 33,811,261 (GRCm39)		probably benign	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
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
IGL03355:Frmpd1	APN	4	45,279,140 (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

2015-04-16