Mutagenetix > Incidental Mutations

Incidental Mutation 'R2135:Frmd6'

235737

Institutional Source

Beutler Lab

Gene Symbol

Frmd6

Ensembl Gene

ENSMUSG00000048285

Gene Name

FERM domain containing 6

Synonyms

MMRRC Submission

040138-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70825514-70902234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70894997 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 494 (N494S)

Ref Sequence

ENSEMBL: ENSMUSP00000052202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057859]

Predicted Effect

probably benign
Transcript: ENSMUST00000057859
AA Change: N494S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000052202
Gene: ENSMUSG00000048285
AA Change: N494S

Domain	Start	End	E-Value	Type
B41	13	234	2.41e-25	SMART
FERM_C	241	332	9.63e-19	SMART
low complexity region	365	375	N/A	INTRINSIC
low complexity region	382	395	N/A	INTRINSIC
low complexity region	425	442	N/A	INTRINSIC
low complexity region	506	512	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222802

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,643	H116Q	probably benign	Het
9230110F15Rik	A	C	9: 35,839,183		probably null	Het
Adamts16	C	A	13: 70,801,007	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,524,557		probably null	Het
Akap9	A	G	5: 4,064,509	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,044,059	L253P	probably damaging	Het
Arap3	T	C	18: 37,974,456	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,526,513	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,720,947	I574N	probably damaging	Het
Cecr2	C	T	6: 120,720,962	T74M	probably damaging	Het
Ces5a	C	A	8: 93,499,741	E481D	probably benign	Het
Cfap74	C	G	4: 155,429,940	N544K	probably damaging	Het
Cfap74	T	A	4: 155,429,951	L548Q	probably damaging	Het
Cfb	C	T	17: 34,857,278	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,951,640		probably benign	Het
Commd10	T	A	18: 46,990,537	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,283		probably benign	Het
Dock4	A	G	12: 40,745,668	Y828C	probably benign	Het
Ermp1	T	C	19: 29,646,065	D119G	possibly damaging	Het
Ext1	G	T	15: 53,101,744	Q409K	possibly damaging	Het
Fat4	A	T	3: 38,980,733	I2845F	probably damaging	Het
Fscn3	A	G	6: 28,431,584	T305A	probably benign	Het
Gbx1	G	T	5: 24,526,222	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,153,812	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,723,728	D572V	probably damaging	Het
Idh1	A	C	1: 65,161,919	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,428,813	Y330C	probably damaging	Het
Kdm4a	A	G	4: 118,142,459	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,682,014	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,371,184	S96P	probably damaging	Het
Ltn1	A	G	16: 87,382,713	L1520P	probably damaging	Het
March6	A	T	15: 31,509,764	C26*	probably null	Het
Msra	G	A	14: 64,123,208	P228L	probably damaging	Het
Mycbp2	A	T	14: 103,145,942	D395E	probably benign	Het
Mycbp2	T	C	14: 103,208,893	Y1800C	probably damaging	Het
Ncr1	C	A	7: 4,340,757		probably benign	Het
Nkd1	T	C	8: 88,591,650	I201T	probably benign	Het
Nsrp1	A	T	11: 77,055,008		probably benign	Het
Olfr330	A	C	11: 58,529,785	I67S	probably damaging	Het
Olfr873	T	A	9: 20,300,297	D32E	probably benign	Het
Pkdrej	T	C	15: 85,816,506	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,580,499	H281Q	possibly damaging	Het
Ppp2r3a	A	C	9: 101,211,558	M522R	probably damaging	Het
Prdm12	T	C	2: 31,640,313	F72S	possibly damaging	Het
Prima1	A	T	12: 103,202,690	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,317,074	H142R	probably benign	Het
Rasgrf2	G	A	13: 91,972,255	A793V	probably benign	Het
Rbsn	T	A	6: 92,189,873	M597L	probably benign	Het
Ripk4	A	T	16: 97,743,733	D571E	probably damaging	Het
Rp9	T	C	9: 22,468,129	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,534,696	S211G	probably damaging	Het
Shank2	C	T	7: 144,411,234	P1070S	probably damaging	Het
Sla	A	G	15: 66,782,714	V241A	probably benign	Het
Slc25a40	A	G	5: 8,427,489	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,708,244	S164P	probably benign	Het
Slc7a5	A	T	8: 121,883,705	W457R	probably null	Het
Slco6c1	A	G	1: 97,104,817	M303T	probably benign	Het
Smim10l1	T	C	6: 133,105,526	F12S	probably damaging	Het
Syne2	A	G	12: 75,952,786	I2318V	probably damaging	Het
Tecta	A	C	9: 42,340,285	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,498,951	H280Q	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,545,333	L336P	probably damaging	Het
Tmem94	A	G	11: 115,794,749	I943V	probably benign	Het
Tshb	A	G	3: 102,778,148		probably null	Het
Vcpip1	A	G	1: 9,747,810	V116A	probably benign	Het
Vmn2r76	A	G	7: 86,231,011	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,397,186	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,246,052	R2108G	possibly damaging	Het

Other mutations in Frmd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0629:Frmd6	UTSW	12	70883762	missense	probably damaging	1.00
R0662:Frmd6	UTSW	12	70899444	nonsense	probably null
R0747:Frmd6	UTSW	12	70864056	missense	probably benign
R1144:Frmd6	UTSW	12	70877168	missense	probably damaging	1.00
R1366:Frmd6	UTSW	12	70887889	splice site	probably benign
R1763:Frmd6	UTSW	12	70893622	missense	possibly damaging	0.90
R2342:Frmd6	UTSW	12	70883818	nonsense	probably null
R3963:Frmd6	UTSW	12	70893864	missense	probably benign	0.00
R3982:Frmd6	UTSW	12	70887834	missense	probably damaging	1.00
R4010:Frmd6	UTSW	12	70899553	missense	probably benign
R4416:Frmd6	UTSW	12	70877249	missense	probably benign	0.04
R4823:Frmd6	UTSW	12	70872575	missense	probably benign	0.22
R4861:Frmd6	UTSW	12	70893726	missense	probably damaging	0.98
R5368:Frmd6	UTSW	12	70864100	nonsense	probably null
R5806:Frmd6	UTSW	12	70890020	missense	probably damaging	1.00
R6226:Frmd6	UTSW	12	70863911	start gained	probably benign
R6253:Frmd6	UTSW	12	70877213	missense	probably damaging	0.99
R6781:Frmd6	UTSW	12	70899643	missense	possibly damaging	0.68
R7051:Frmd6	UTSW	12	70897396	missense	possibly damaging	0.78
R7156:Frmd6	UTSW	12	70877209	missense	probably damaging	1.00
R7481:Frmd6	UTSW	12	70887055	missense	probably damaging	1.00
U24488:Frmd6	UTSW	12	70893879	missense	probably damaging	0.97
X0022:Frmd6	UTSW	12	70864108	missense	probably damaging	1.00
Z1088:Frmd6	UTSW	12	70880678	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGTGAACGTCTACCTGGCTG -3'
(R):5'- TTGATACAACCCTGGTGCCC -3'

Sequencing Primer
(F):5'- CCCTCACATGTGTGCTGTGG -3'
(R):5'- CTCACCCATCTCTTCCACAG -3'

Posted On

2014-10-01