Mutagenetix > Incidental Mutation

Incidental Mutation 'R4590:Frmd5'

342730

Institutional Source

Beutler Lab

Gene Symbol

Frmd5

Ensembl Gene

ENSMUSG00000027238

Gene Name

FERM domain containing 5

Synonyms

1500032A09Rik, A930004K21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121376010-121637568 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 121595512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120176 (fasta)

Gene Model

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

AlphaFold

Q6P5H6

Predicted Effect

probably benign
Transcript: ENSMUST00000110592

SMART Domains

Protein: ENSMUSP00000106222
Gene: ENSMUSG00000027238

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 null
Transcript: ENSMUST00000110593

SMART Domains

Protein: ENSMUSP00000106223
Gene: ENSMUSG00000027238

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 benign
Transcript: ENSMUST00000128428

SMART Domains

Protein: ENSMUSP00000116468
Gene: ENSMUSG00000027238

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138157

SMART Domains

Protein: ENSMUSP00000115136
Gene: ENSMUSG00000027238

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

noncoding transcript
Transcript: ENSMUST00000142016

Predicted Effect

probably benign
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 null
Transcript: ENSMUST00000155570

SMART Domains

Protein: ENSMUSP00000120176
Gene: ENSMUSG00000027238

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,716,697 (GRCm39)	D201E	probably damaging	Het
Ano10	T	A	9: 122,086,231 (GRCm39)	Q398L	probably benign	Het
Ap3d1	A	T	10: 80,555,646 (GRCm39)	L319*	probably null	Het
Cacna1e	T	C	1: 154,312,265 (GRCm39)	M1575V	possibly damaging	Het
Cep192	T	A	18: 67,949,862 (GRCm39)	Y315*	probably null	Het
Cndp2	C	A	18: 84,687,933 (GRCm39)	V353F	probably damaging	Het
Ctsq	T	A	13: 61,184,028 (GRCm39)	N298I	probably benign	Het
Dnah6	A	T	6: 73,129,695 (GRCm39)	C1173S	probably damaging	Het
Dnah9	T	C	11: 65,931,218 (GRCm39)	M1993V	probably damaging	Het
Dnhd1	T	C	7: 105,363,237 (GRCm39)	V3933A	probably damaging	Het
Dnpep	C	A	1: 75,293,045 (GRCm39)	V76L	probably damaging	Het
Dsc3	A	C	18: 20,122,752 (GRCm39)	C57W	probably damaging	Het
Dtx3	A	G	10: 127,028,564 (GRCm39)	S222P	probably damaging	Het
Eml5	T	C	12: 98,803,600 (GRCm39)	Y1009C	possibly damaging	Het
Fam169a	A	G	13: 97,234,093 (GRCm39)	I122V	probably benign	Het
Fgr	T	A	4: 132,722,364 (GRCm39)	V211E	probably damaging	Het
Flvcr1	T	C	1: 190,744,343 (GRCm39)	T402A	probably benign	Het
Fut2	T	C	7: 45,300,370 (GRCm39)	N134S	possibly damaging	Het
Gm10110	A	T	14: 90,134,982 (GRCm39)		noncoding transcript	Het
Gm7275	A	T	16: 47,893,982 (GRCm39)		noncoding transcript	Het
Gm904	T	A	13: 50,799,285 (GRCm39)	C81*	probably null	Het
Herc1	T	A	9: 66,344,946 (GRCm39)	V1913E	probably damaging	Het
Hnmt	T	C	2: 23,909,111 (GRCm39)		probably null	Het
Ift172	T	C	5: 31,411,299 (GRCm39)	E1643G	probably damaging	Het
Inpp4b	T	A	8: 82,468,040 (GRCm39)	M1K	probably null	Het
Keap1	G	T	9: 21,148,905 (GRCm39)	A34D	probably damaging	Het
Krt25	T	C	11: 99,208,854 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,865,410 (GRCm39)	V2916A	probably benign	Het
Ly9	G	A	1: 171,421,443 (GRCm39)	Q603*	probably null	Het
Mis18bp1	A	C	12: 65,205,280 (GRCm39)	N14K	possibly damaging	Het
Mmrn1	G	T	6: 60,937,797 (GRCm39)	C265F	probably damaging	Het
Mrgprb5	C	T	7: 47,817,809 (GRCm39)	E309K	probably benign	Het
Nrtn	T	C	17: 57,058,504 (GRCm39)	T166A	probably damaging	Het
Odr4	A	G	1: 150,262,103 (GRCm39)		probably null	Het
Or8g50	T	C	9: 39,648,146 (GRCm39)	F12L	probably damaging	Het
Osbpl7	T	A	11: 96,947,098 (GRCm39)	S266R	probably damaging	Het
Pcdhb11	T	C	18: 37,555,549 (GRCm39)	I293T	probably damaging	Het
Pes1	A	G	11: 3,927,986 (GRCm39)	Y546C	probably damaging	Het
Pth1r	A	T	9: 110,551,339 (GRCm39)	W587R	probably benign	Het
Rasgrf2	A	G	13: 92,174,789 (GRCm39)	Y147H	probably damaging	Het
Rbbp8	T	A	18: 11,865,322 (GRCm39)	L737*	probably null	Het
Rcor3	A	T	1: 191,810,217 (GRCm39)	F153L	probably damaging	Het
Rev3l	G	A	10: 39,682,929 (GRCm39)	C349Y	probably damaging	Het
Rnf115	C	T	3: 96,695,889 (GRCm39)	T225M	probably benign	Het
Rnf157	A	G	11: 116,250,098 (GRCm39)	V200A	probably damaging	Het
Scfd2	T	C	5: 74,372,917 (GRCm39)	T653A	probably benign	Het
Sdccag8	T	C	1: 176,775,858 (GRCm39)	Y590H	probably damaging	Het
Sema4d	T	A	13: 51,877,654 (GRCm39)	K59N	probably benign	Het
Serpinb7	C	A	1: 107,379,563 (GRCm39)	H323Q	probably damaging	Het
Setx	T	A	2: 29,034,821 (GRCm39)	H435Q	probably damaging	Het
Sgk3	T	C	1: 9,969,020 (GRCm39)	S466P	possibly damaging	Het
Sgsm2	T	C	11: 74,741,958 (GRCm39)	M1011V	probably damaging	Het
Ssc4d	G	A	5: 135,993,538 (GRCm39)	P106L	probably benign	Het
Taf7	T	C	18: 37,775,784 (GRCm39)	Q261R	possibly damaging	Het
Tbc1d2b	T	C	9: 90,152,553 (GRCm39)	K71R	possibly damaging	Het
Tff3	C	T	17: 31,348,508 (GRCm39)	V15I	probably benign	Het
Tgfb3	C	A	12: 86,124,589 (GRCm39)	V40L	possibly damaging	Het
Timm10	T	A	2: 84,657,992 (GRCm39)	D2E	possibly damaging	Het
Ttc16	T	A	2: 32,663,753 (GRCm39)	N74I	probably damaging	Het
Ttll1	G	A	15: 83,381,546 (GRCm39)	T241I	probably damaging	Het
Uba6	T	A	5: 86,260,603 (GRCm39)	D992V	probably damaging	Het
Vmn1r25	T	A	6: 57,955,480 (GRCm39)	T270S	probably benign	Het
Vmn2r106	T	C	17: 20,497,728 (GRCm39)	I504V	probably damaging	Het
Vmn2r87	G	T	10: 130,315,014 (GRCm39)	H191N	possibly damaging	Het
Vnn1	C	A	10: 23,775,303 (GRCm39)	F184L	possibly damaging	Het
Vtn	A	T	11: 78,393,032 (GRCm39)	I466F	probably damaging	Het
Zfp352	A	C	4: 90,112,772 (GRCm39)	D304A	probably damaging	Het

Other mutations in Frmd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03025:Frmd5	APN	2	121,383,825 (GRCm39)	missense	probably benign
big_rip	UTSW	2	121,379,699 (GRCm39)	nonsense	probably null
PIT4812001:Frmd5	UTSW	2	121,416,927 (GRCm39)	missense	probably benign	0.34
R0385:Frmd5	UTSW	2	121,386,055 (GRCm39)	missense	probably damaging	1.00
R1667:Frmd5	UTSW	2	121,379,211 (GRCm39)	frame shift	probably null
R4243:Frmd5	UTSW	2	121,393,363 (GRCm39)	splice site	probably null
R4705:Frmd5	UTSW	2	121,393,344 (GRCm39)	intron	probably benign
R4909:Frmd5	UTSW	2	121,422,134 (GRCm39)	splice site	probably null
R4935:Frmd5	UTSW	2	121,393,405 (GRCm39)	missense	possibly damaging	0.75
R5008:Frmd5	UTSW	2	121,379,341 (GRCm39)	missense	probably damaging	1.00
R5095:Frmd5	UTSW	2	121,379,402 (GRCm39)	missense	possibly damaging	0.95
R5431:Frmd5	UTSW	2	121,393,390 (GRCm39)	missense	probably damaging	1.00
R5875:Frmd5	UTSW	2	121,388,959 (GRCm39)	intron	probably benign
R6246:Frmd5	UTSW	2	121,381,529 (GRCm39)	missense	possibly damaging	0.66
R6404:Frmd5	UTSW	2	121,379,699 (GRCm39)	nonsense	probably null
R7039:Frmd5	UTSW	2	121,378,128 (GRCm39)	unclassified	probably benign
R7072:Frmd5	UTSW	2	121,388,351 (GRCm39)	missense	probably damaging	0.97
R7520:Frmd5	UTSW	2	121,384,745 (GRCm39)	critical splice donor site	probably null
R7804:Frmd5	UTSW	2	121,422,225 (GRCm39)	missense	probably damaging	0.99
R8302:Frmd5	UTSW	2	121,378,060 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGCCCATTGTCCTTGTCTG -3'
(R):5'- CCCCGTAGAGGCTGTAGTAATTAAG -3'

Sequencing Primer
(F):5'- GCGGTGACCTTTCCCATG -3'
(R):5'- ACTAAGTGGTTTGTGAGGATTTAAG -3'

Posted On

2015-09-24