Mutagenetix > Incidental Mutation

Incidental Mutation 'R5489:Frmd8'

432016

Institutional Source

Beutler Lab

Gene Symbol

Frmd8

Ensembl Gene

ENSMUSG00000024816

Gene Name

FERM domain containing 8

Synonyms

1200004M23Rik, 4931429L16Rik, 2310035N23Rik, iTAP

MMRRC Submission

043050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R5489 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

5901002-5925297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5902680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 457 (Q457L)

Ref Sequence

ENSEMBL: ENSMUSP00000025728 (fasta)

Gene Model

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

AlphaFold

Q3UFK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025728
AA Change: Q457L

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

SMART Domains

Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816
AA Change: Q457L

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: ENSMUST00000135347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187697

Meta Mutation Damage Score

0.1352

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,268,778 (GRCm39)	M1K	probably null	Het
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Bms1	T	C	6: 118,390,706 (GRCm39)	T208A	possibly damaging	Het
Brd8	A	T	18: 34,741,698 (GRCm39)		probably null	Het
Caln1	G	T	5: 130,443,673 (GRCm39)	R2L	possibly damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,035 (GRCm39)	F196L	probably damaging	Het
Clec2f	T	C	6: 128,997,449 (GRCm39)		noncoding transcript	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cyb561	A	G	11: 105,826,349 (GRCm39)	V202A	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Ddx54	A	G	5: 120,762,786 (GRCm39)	T636A	probably benign	Het
Dnah8	T	G	17: 31,009,930 (GRCm39)	F3774V	probably damaging	Het
Ern1	A	G	11: 106,298,355 (GRCm39)	S674P	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Heatr6	A	G	11: 83,665,258 (GRCm39)	E741G	probably damaging	Het
Hnrnpab	A	G	11: 51,495,640 (GRCm39)	L133S	probably damaging	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Leap2	T	G	11: 53,313,240 (GRCm39)	*77C	probably null	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Mrps9	T	G	1: 42,937,593 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,305,169 (GRCm39)	S158P	probably benign	Het
Mus81	T	C	19: 5,537,917 (GRCm39)		probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Padi2	T	C	4: 140,671,799 (GRCm39)	F509S	probably damaging	Het
Pcdha12	A	G	18: 37,155,260 (GRCm39)	T660A	probably benign	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc17a4	A	G	13: 24,082,825 (GRCm39)		probably null	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Thap3	T	A	4: 152,070,109 (GRCm39)		probably benign	Het
Tmem45a	T	A	16: 56,646,074 (GRCm39)		probably null	Het
Trim43a	A	T	9: 88,464,229 (GRCm39)	I47F	probably damaging	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Zfp735	G	A	11: 73,601,419 (GRCm39)	W121*	probably null	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	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
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'- TGAAACTCCAGCAGACCCTG -3'
(R):5'- CTCAGTGATGACAGTTCTGATGG -3'

Sequencing Primer
(F):5'- GACCCTGCACAGCACCC -3'
(R):5'- GCACAGTTTAAGCGACTCCAGG -3'

Posted On

2016-10-05