Mutagenetix > Incidental Mutations

Incidental Mutation 'R7804:Frmd5'

600655

Institutional Source

Beutler Lab

Gene Symbol

Frmd5

Ensembl Gene

ENSMUSG00000027238

Gene Name

FERM domain containing 5

Synonyms

A930004K21Rik, 1500032A09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121545529-121807087 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121591744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 33 (Y33H)

Ref Sequence

ENSEMBL: ENSMUSP00000106223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110592] [ENSMUST00000110593] [ENSMUST00000121219] [ENSMUST00000128428] [ENSMUST00000138157] [ENSMUST00000145075] [ENSMUST00000155570]

AlphaFold

Q6P5H6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110592
AA Change: Y41H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238
AA Change: Y41H

Domain	Start	End	E-Value	Type
B41	13	210	2.23e-61	SMART
FERM_C	214	302	6.86e-24	SMART
FA	308	354	1.45e-13	SMART
low complexity region	452	474	N/A	INTRINSIC
transmembrane domain	501	523	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110593
AA Change: Y33H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238
AA Change: Y33H

Domain	Start	End	E-Value	Type
B41	2	202	4.13e-56	SMART
FERM_C	206	294	6.86e-24	SMART
FA	300	346	1.45e-13	SMART
low complexity region	444	466	N/A	INTRINSIC
low complexity region	489	504	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121219

SMART Domains

Protein: ENSMUSP00000113568
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
B41	1	121	1.92e-4	SMART
FERM_C	125	213	6.86e-24	SMART
FA	219	265	1.45e-13	SMART
low complexity region	363	385	N/A	INTRINSIC
transmembrane domain	412	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128428
AA Change: Y41H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238
AA Change: Y41H

Domain	Start	End	E-Value	Type
B41	13	202	3.21e-44	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000138157
AA Change: Y41H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238
AA Change: Y41H

Domain	Start	End	E-Value	Type
B41	13	210	2.23e-61	SMART
FERM_C	214	302	6.86e-24	SMART
FA	308	354	1.45e-13	SMART
low complexity region	452	474	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000145075

SMART Domains

Protein: ENSMUSP00000122195
Gene: ENSMUSG00000027238

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
SCOP:d1gg3a3	19	37	6e-5	SMART
low complexity region	71	93	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155570
AA Change: Y33H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238
AA Change: Y33H

Domain	Start	End	E-Value	Type
B41	2	202	4.13e-56	SMART
FERM_C	206	294	6.86e-24	SMART
FA	300	346	1.45e-13	SMART
low complexity region	444	466	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTATGTGT	GTGTGT	11: 43,587,414		probably benign	Het
Ago4	A	T	4: 126,512,630	C296S	probably benign	Het
Apbb1	A	G	7: 105,566,600	L401P	probably damaging	Het
Cacnb2	C	A	2: 14,968,037	P252T	probably benign	Het
Ctnna2	C	T	6: 77,641,374	V202I	probably benign	Het
Dapk1	A	T	13: 60,725,339	I352F	probably benign	Het
Dexi	T	C	16: 10,542,485	D69G	possibly damaging	Het
Dgcr14	T	A	16: 17,911,167	I47F	probably damaging	Het
Dlg5	T	C	14: 24,165,320	E645G	possibly damaging	Het
Dnah3	A	G	7: 119,952,618	I2826T	probably damaging	Het
Dnah3	A	G	7: 120,011,012	W1734R	probably damaging	Het
Dtna	A	G	18: 23,595,609	K287R	probably damaging	Het
Elovl5	A	G	9: 77,979,823		probably null	Het
Fam222b	C	A	11: 78,154,153	P180Q	probably benign	Het
Fat3	C	T	9: 15,990,592	V3046I	probably benign	Het
Fem1a	A	G	17: 56,258,068	D387G	probably damaging	Het
Gucy2g	A	T	19: 55,228,152	L464H	probably benign	Het
Ints2	T	C	11: 86,212,663	E1189G	possibly damaging	Het
Itgb4	T	C	11: 116,003,684	V1355A	probably damaging	Het
Lepr	A	T	4: 101,782,586	S750C	probably damaging	Het
Lingo1	T	C	9: 56,619,514	D603G	probably benign	Het
Map4k3	A	C	17: 80,615,070	V474G	probably damaging	Het
Myl4	T	A	11: 104,584,961	V167E	probably damaging	Het
Naa25	T	C	5: 121,424,589	V478A	probably benign	Het
Neurl4	T	A	11: 69,905,874	L487H	probably benign	Het
Nkx2-9	C	T	12: 56,612,132	R99H	probably damaging	Het
Olfr1215	C	G	2: 89,001,511	R259P	unknown	Het
Olfr686	A	T	7: 105,204,160	M61K	probably damaging	Het
Olfr809	A	G	10: 129,776,222	I103V	probably benign	Het
Pcdhga9	A	G	18: 37,738,079	I320M	probably damaging	Het
Pi15	T	A	1: 17,624,913	C251*	probably null	Het
Pkhd1l1	A	T	15: 44,597,138	K4248*	probably null	Het
Prkg1	C	T	19: 30,578,632	V625I	probably benign	Het
Prkg1	G	A	19: 30,624,770	A362V	possibly damaging	Het
Prol1	C	T	5: 88,328,405	T218I	unknown	Het
Ptpro	G	A	6: 137,399,601		probably null	Het
Rev3l	T	A	10: 39,823,485	I1326K	probably benign	Het
Shank1	C	A	7: 44,312,884	R60S	unknown	Het
Slc24a2	A	G	4: 86,991,537	V648A	probably damaging	Het
Slc35d3	T	C	10: 19,849,370	T247A	probably damaging	Het
Specc1	C	T	11: 62,205,397	T895I	probably damaging	Het
Spta1	A	G	1: 174,195,905	E626G	possibly damaging	Het
Syngr2	C	A	11: 117,812,575	S72R	possibly damaging	Het
Synj2	T	A	17: 6,019,534	L490Q	unknown	Het
Tbc1d9	T	C	8: 83,236,712	L351P	possibly damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Themis3	G	A	17: 66,555,610	T451I	probably benign	Het
Tia1	T	C	6: 86,424,382	S146P	probably benign	Het
Tpp2	T	A	1: 43,983,281	N946K	probably benign	Het
Tpr	A	T	1: 150,432,559	R1688S	probably damaging	Het
Trav12-1	A	G	14: 53,538,531	Q47R	possibly damaging	Het
Ttll9	G	A	2: 153,002,358		probably null	Het
Ttn	G	A	2: 76,707,241	T34781M	possibly damaging	Het
V1ra8	A	G	6: 90,203,316	Y167C	probably damaging	Het
Vegfb	T	C	19: 6,986,339	D84G	probably damaging	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wdr26	A	G	1: 181,182,822	I554T	probably damaging	Het

Other mutations in Frmd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03025:Frmd5	APN	2	121553344	missense	probably benign
big_rip	UTSW	2	121549218	nonsense	probably null
PIT4812001:Frmd5	UTSW	2	121586446	missense	probably benign	0.34
R0385:Frmd5	UTSW	2	121555574	missense	probably damaging	1.00
R1667:Frmd5	UTSW	2	121548730	frame shift	probably null
R4243:Frmd5	UTSW	2	121562882	splice site	probably null
R4590:Frmd5	UTSW	2	121765031	splice site	probably null
R4705:Frmd5	UTSW	2	121562863	intron	probably benign
R4909:Frmd5	UTSW	2	121591653	splice site	probably null
R4935:Frmd5	UTSW	2	121562924	missense	possibly damaging	0.75
R5008:Frmd5	UTSW	2	121548860	missense	probably damaging	1.00
R5095:Frmd5	UTSW	2	121548921	missense	possibly damaging	0.95
R5431:Frmd5	UTSW	2	121562909	missense	probably damaging	1.00
R5875:Frmd5	UTSW	2	121558478	intron	probably benign
R6246:Frmd5	UTSW	2	121551048	missense	possibly damaging	0.66
R6404:Frmd5	UTSW	2	121549218	nonsense	probably null
R7039:Frmd5	UTSW	2	121547647	unclassified	probably benign
R7072:Frmd5	UTSW	2	121557870	missense	probably damaging	0.97
R7520:Frmd5	UTSW	2	121554264	critical splice donor site	probably null
R8302:Frmd5	UTSW	2	121547579	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTAAACTTTGCAAGGGAGTCAC -3'
(R):5'- TGACTGCTAGCCTCCATGTG -3'

Sequencing Primer
(F):5'- TTTGCAAGGGAGTCACATACAAC -3'
(R):5'- GACTGCTAGCCTCCATGTGTACATAC -3'

Posted On

2019-11-26