Mutagenetix > Incidental Mutation

Incidental Mutation 'R8440:Frmd8'

660409

Institutional Source

Beutler Lab

Gene Symbol

Frmd8

Ensembl Gene

ENSMUSG00000024816

Gene Name

FERM domain containing 8

Synonyms

1200004M23Rik, 4931429L16Rik, 2310035N23Rik, iTAP

MMRRC Submission

067884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R8440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5901002-5925297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5915202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 234 (Y234C)

Ref Sequence

ENSEMBL: ENSMUSP00000025728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025728] [ENSMUST00000155227]

AlphaFold

Q3UFK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025728
AA Change: Y234C

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816
AA Change: Y234C

Domain	Start	End	E-Value	Type
B41	26	273	9.58e-4	SMART
low complexity region	383	398	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155227

SMART Domains

Protein: ENSMUSP00000116453
Gene: ENSMUSG00000024816

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC
Pfam:FERM_M	136	202	9.6e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	G	C	3: 152,209,680 (GRCm39)		probably null	Het
Bbs9	T	A	9: 22,479,046 (GRCm39)	V163E	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cbr3	T	C	16: 93,480,421 (GRCm39)	I70T	probably damaging	Het
Chka	T	C	19: 3,943,375 (GRCm39)	Y426H	probably damaging	Het
Cpq	T	A	15: 33,213,341 (GRCm39)	M120K	possibly damaging	Het
Dcaf1	T	A	9: 106,725,073 (GRCm39)	C520S	possibly damaging	Het
Egfr	T	C	11: 16,859,831 (GRCm39)	Y1018H	probably damaging	Het
Eif3l	T	C	15: 78,961,120 (GRCm39)	Y58H	possibly damaging	Het
Fus	T	C	7: 127,568,998 (GRCm39)	Y50H	unknown	Het
Hmcn1	T	A	1: 150,570,671 (GRCm39)	Q2164L	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hsd11b1	T	C	1: 192,904,420 (GRCm39)	K260E	probably benign	Het
Igkv4-91	C	T	6: 68,745,556 (GRCm39)	G114D	probably benign	Het
Inpp4b	G	A	8: 82,768,524 (GRCm39)	E678K	probably damaging	Het
Kifc3	G	T	8: 95,836,422 (GRCm39)	P113Q	possibly damaging	Het
Lgi4	T	A	7: 30,760,049 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,365,163 (GRCm39)	N107D	probably damaging	Het
Meiob	G	T	17: 25,037,302 (GRCm39)	C60F	probably benign	Het
Nedd4l	G	T	18: 65,022,126 (GRCm39)		probably null	Het
Omp	A	G	7: 97,794,253 (GRCm39)	F125L	probably damaging	Het
Or1ad6	T	C	11: 50,860,024 (GRCm39)	Y60H	probably damaging	Het
Or51h1	G	A	7: 102,308,275 (GRCm39)	M82I	probably damaging	Het
Or5a1	C	T	19: 12,097,308 (GRCm39)	C244Y	probably damaging	Het
Pcdha3	T	C	18: 37,080,914 (GRCm39)	V552A	probably damaging	Het
Plek	T	C	11: 16,945,276 (GRCm39)	D18G	possibly damaging	Het
Ppip5k2	T	C	1: 97,675,276 (GRCm39)	T376A	probably damaging	Het
Prkdc	CAAA	CAAAA	16: 15,653,022 (GRCm39)	3833	probably null	Het
Rabgap1	T	C	2: 37,432,692 (GRCm39)		probably null	Het
Rtn1	T	A	12: 72,270,173 (GRCm39)	I113F	probably damaging	Het
Ssu2	T	A	6: 112,364,950 (GRCm39)	D4V	probably benign	Het
St6galnac2	T	C	11: 116,568,374 (GRCm39)	H363R	probably damaging	Het
Stk19	T	C	17: 35,055,456 (GRCm39)	S60G	possibly damaging	Het
Suco	G	A	1: 161,679,907 (GRCm39)	T332I	probably damaging	Het
Trbv20	T	A	6: 41,165,892 (GRCm39)	Y106N	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r128	G	A	7: 21,083,745 (GRCm39)	V150I	probably benign	Het
Vmn2r54	A	T	7: 12,350,013 (GRCm39)	V523E	possibly damaging	Het
Vmn2r61	A	T	7: 41,916,080 (GRCm39)	E231V	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp592	G	C	7: 80,691,271 (GRCm39)	S1150T	possibly damaging	Het

Other mutations in Frmd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Frmd8	APN	19	5,919,603 (GRCm39)	missense	probably damaging	1.00
R0815:Frmd8	UTSW	19	5,915,084 (GRCm39)	unclassified	probably benign
R1704:Frmd8	UTSW	19	5,919,510 (GRCm39)	missense	probably benign	0.38
R2570:Frmd8	UTSW	19	5,924,740 (GRCm39)	missense	probably damaging	1.00
R5489:Frmd8	UTSW	19	5,902,680 (GRCm39)	missense	probably damaging	1.00
R5717:Frmd8	UTSW	19	5,923,396 (GRCm39)	unclassified	probably benign
R5771:Frmd8	UTSW	19	5,919,478 (GRCm39)	missense	probably benign	0.05
R6819:Frmd8	UTSW	19	5,915,208 (GRCm39)	missense	probably benign	0.01
R6994:Frmd8	UTSW	19	5,923,209 (GRCm39)	missense	probably damaging	1.00
R7018:Frmd8	UTSW	19	5,919,546 (GRCm39)	missense	probably damaging	1.00
R8549:Frmd8	UTSW	19	5,919,565 (GRCm39)	missense	possibly damaging	0.69
R8922:Frmd8	UTSW	19	5,923,295 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTCTTTAAGAGGACAGAGC -3'
(R):5'- GTACTCACACCCTGAAGACTTC -3'

Sequencing Primer
(F):5'- CTCTTTAAGAGGACAGAGCCACTG -3'
(R):5'- TGAAGACTTCAGTACCCCAGAGG -3'

Posted On

2021-01-18