Mutagenetix > Incidental Mutation

Incidental Mutation 'R1704:Frmd8'

189993

Institutional Source

Beutler Lab

Gene Symbol

Frmd8

Ensembl Gene

ENSMUSG00000024816

Gene Name

FERM domain containing 8

Synonyms

1200004M23Rik, 4931429L16Rik, 2310035N23Rik, iTAP

MMRRC Submission

039737-MU

Accession Numbers

Essential gene?

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

Stock #

R1704 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

5901002-5925297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5919510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 179 (Q179L)

Ref Sequence

ENSEMBL: ENSMUSP00000025728 (fasta)

Gene Model

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

AlphaFold

Q3UFK8

Predicted Effect

probably benign
Transcript: ENSMUST00000025728
AA Change: Q179L

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816
AA Change: Q179L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145026

Predicted Effect

probably benign
Transcript: ENSMUST00000155227
AA Change: Q179L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116453
Gene: ENSMUSG00000024816
AA Change: Q179L

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,146,164 (GRCm39)	H511Y	probably benign	Het
Aldh1l2	C	T	10: 83,344,524 (GRCm39)	A341T	probably benign	Het
Apon	T	C	10: 128,090,865 (GRCm39)	F181S	probably damaging	Het
Avpr1b	T	A	1: 131,537,242 (GRCm39)	L342Q	possibly damaging	Het
Cacna1c	A	T	6: 118,579,107 (GRCm39)	H1810Q	probably benign	Het
Camta1	T	C	4: 151,159,681 (GRCm39)	Y1593C	probably damaging	Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cep192	T	A	18: 67,989,327 (GRCm39)	S1825T	probably damaging	Het
Cntnap4	T	A	8: 113,484,155 (GRCm39)	W403R	probably damaging	Het
Crppa	A	G	12: 36,571,493 (GRCm39)	E279G	probably benign	Het
D630045J12Rik	G	A	6: 38,116,362 (GRCm39)	P1753S	probably benign	Het
Dsg4	T	C	18: 20,604,646 (GRCm39)	Y1038H	probably damaging	Het
Fat1	C	T	8: 45,478,613 (GRCm39)	T2553I	probably damaging	Het
Fem1c	A	T	18: 46,639,263 (GRCm39)	N246K	probably benign	Het
Gbp10	A	G	5: 105,372,217 (GRCm39)	F181S	probably damaging	Het
Hfe	T	C	13: 23,888,391 (GRCm39)	Y265C	probably damaging	Het
Kifap3	A	G	1: 163,656,765 (GRCm39)	N362D	possibly damaging	Het
Lima1	A	G	15: 99,717,617 (GRCm39)	F130L	probably benign	Het
Lipo3	A	T	19: 33,757,743 (GRCm39)	V242E	possibly damaging	Het
Nf1	T	A	11: 79,354,127 (GRCm39)		probably null	Het
Nos1ap	C	G	1: 170,165,781 (GRCm39)	E161Q	probably damaging	Het
Or1q1	A	T	2: 36,886,896 (GRCm39)	I25F	probably benign	Het
Or2t43	A	T	11: 58,457,580 (GRCm39)	M197K	probably damaging	Het
Pde4dip	C	T	3: 97,661,576 (GRCm39)	V611I	probably benign	Het
Pdk2	T	C	11: 94,919,376 (GRCm39)	I300V	possibly damaging	Het
Polr2b	A	G	5: 77,490,407 (GRCm39)	D849G	possibly damaging	Het
Polr3a	G	A	14: 24,534,188 (GRCm39)	Q106*	probably null	Het
Prr14l	G	T	5: 32,987,626 (GRCm39)	A623D	probably benign	Het
Rab43	A	C	6: 87,788,363 (GRCm39)		probably null	Het
Sart3	G	A	5: 113,884,068 (GRCm39)	T648M	probably benign	Het
Scn10a	T	C	9: 119,438,460 (GRCm39)	D1803G	probably damaging	Het
Sec11a	A	T	7: 80,584,848 (GRCm39)	S30T	possibly damaging	Het
Sez6l2	G	A	7: 126,557,513 (GRCm39)	G309E	probably damaging	Het
Snx14	A	C	9: 88,295,591 (GRCm39)	D191E	probably damaging	Het
Sox6	A	T	7: 115,076,183 (GRCm39)	N777K	possibly damaging	Het
Susd4	A	G	1: 182,681,678 (GRCm39)	N173S	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgfbrap1	G	T	1: 43,093,816 (GRCm39)	Q559K	probably benign	Het
Tmco1	T	C	1: 167,153,506 (GRCm39)	S129P	possibly damaging	Het
Tmprss11a	T	C	5: 86,576,561 (GRCm39)	T97A	probably benign	Het
Tnni3k	G	A	3: 154,533,145 (GRCm39)	A774V	probably benign	Het
Tshz3	T	C	7: 36,470,785 (GRCm39)	S925P	possibly damaging	Het
Ush2a	T	C	1: 188,553,993 (GRCm39)	V3494A	probably damaging	Het
Vmn2r9	T	C	5: 108,994,266 (GRCm39)	D461G	probably damaging	Het
Zan	A	T	5: 137,432,264 (GRCm39)	C2344*	probably null	Het
Zfp629	A	G	7: 127,210,036 (GRCm39)	I591T	probably benign	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Zmym1	A	T	4: 126,942,177 (GRCm39)	I737N	probably damaging	Het
Zranb3	T	C	1: 128,019,740 (GRCm39)	M1V	probably null	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
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
R8440:Frmd8	UTSW	19	5,915,202 (GRCm39)	missense	possibly damaging	0.85
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'- TGACTTCAGGACTGTCCACCTTGC -3'
(R):5'- CCTTCCCTTCAGTTCCGAAGGAATG -3'

Sequencing Primer
(F):5'- TTGCAGGCCCTAGACCTAC -3'
(R):5'- TAGACACTTAGGCAGTCATGC -3'

Posted On

2014-05-14