Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Frmpd1'

103710

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 #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

45184875-45285936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45243717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 63 (D63E)

Ref Sequence

ENSEMBL: ENSMUSP00000103434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804] [ENSMUST00000134280]

AlphaFold

A2AKB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044773
AA Change: D63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: D63E

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: D63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: D63E

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: ENSMUST00000134280
AA Change: D63E

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

SMART Domains

Protein: ENSMUSP00000118757
Gene: ENSMUSG00000035615
AA Change: D63E

Domain	Start	End	E-Value	Type
PDZ	67	135	5.72e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134640

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably 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
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
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

2014-01-21