Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Frmd3'

452886

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, P410, 9430066I12Rik

MMRRC Submission

042615-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74013442-74202214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74098144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 99 (S99T)

Ref Sequence

ENSEMBL: ENSMUSP00000095615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084474] [ENSMUST00000098006]

AlphaFold

Q8BHD4

Predicted Effect

probably benign
Transcript: ENSMUST00000084474
AA Change: S99T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: S99T

Domain	Start	End	E-Value	Type
B41	28	225	5.17e-57	SMART
FERM_C	229	316	1.93e-18	SMART
FA	322	368	4.1e-13	SMART
low complexity region	391	401	N/A	INTRINSIC
transmembrane domain	530	552	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098006
AA Change: S99T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: S99T

Domain	Start	End	E-Value	Type
B41	28	225	5.17e-57	SMART
FERM_C	229	316	1.93e-18	SMART
FA	322	368	4.1e-13	SMART
low complexity region	391	401	N/A	INTRINSIC
transmembrane domain	529	551	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,171,895	N575S	probably damaging	Het
Akap6	C	T	12: 53,142,562	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,506,440	N289K	probably damaging	Het
Armc4	T	C	18: 7,088,555	M1005V	probably benign	Het
Atad2b	A	C	12: 4,937,534	T121P	probably benign	Het
Atp4a	A	C	7: 30,715,864	D303A	possibly damaging	Het
BC005561	A	G	5: 104,522,258	K1549E	possibly damaging	Het
Calu	A	T	6: 29,374,519		probably benign	Het
Ccdc141	A	C	2: 77,054,703	N531K	probably benign	Het
Ccdc146	T	C	5: 21,399,614		probably null	Het
Cd207	G	A	6: 83,674,319	T218I	probably damaging	Het
Cd2ap	A	C	17: 42,805,345		probably null	Het
Clip3	G	A	7: 30,292,219		probably benign	Het
Clstn1	G	A	4: 149,635,294	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,321,348	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,736,096	E2033V	probably damaging	Het
Eng	T	G	2: 32,673,392	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296	W57*	probably null	Het
Etv1	T	A	12: 38,854,234		probably null	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam196a	A	G	7: 134,918,478	S108P	probably damaging	Het
Fam221b	T	A	4: 43,659,674	N482I	probably damaging	Het
Fam83h	T	C	15: 76,005,142	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,179,335	T449A	probably benign	Het
Fbxw25	A	T	9: 109,663,374		probably null	Het
Gm5155	A	G	7: 17,910,682	I575V	probably benign	Het
Gm5174	G	T	10: 86,656,587		noncoding transcript	Het
Gm6904	T	C	14: 59,258,483		probably null	Het
Gm815	C	T	19: 26,887,775	Q49*	probably null	Het
H2-DMa	A	T	17: 34,138,487	I245F	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,864,489		probably null	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,680,688	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,863,793	H33N	probably benign	Het
Il6	T	C	5: 30,019,514	L184P	probably damaging	Het
Impg2	T	A	16: 56,260,100	S756T	probably damaging	Het
Kank4	T	G	4: 98,785,661	D5A	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,537	T349S	probably benign	Het
Keap1	A	G	9: 21,237,226	Y162H	probably damaging	Het
Kif9	T	C	9: 110,483,093	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,239,369	T257A	probably damaging	Het
Lpin1	A	T	12: 16,554,006	L608Q	probably benign	Het
Lyst	T	C	13: 13,634,404	S220P	probably benign	Het
M1ap	A	G	6: 83,028,358		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Myo5b	A	T	18: 74,716,034	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,951,016	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155		noncoding transcript	Het
Olfr1040	G	T	2: 86,146,533	A67E	probably damaging	Het
Olfr1062	C	T	2: 86,423,461	G72S	possibly damaging	Het
Olfr292	A	T	7: 86,694,881	M142L	probably benign	Het
Olfr318	T	A	11: 58,720,950	I33F	probably benign	Het
Otud6b	T	A	4: 14,826,293	Q34L	probably damaging	Het
Parp11	C	T	6: 127,471,636	T72I	probably damaging	Het
Pbx1	T	A	1: 168,183,589	D343V	possibly damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Pramef20	C	A	4: 144,373,308	E296*	probably null	Het
Ranbp9	A	T	13: 43,434,855	I67N	probably damaging	Het
Rasgrp4	A	G	7: 29,148,407	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,490,488	H15R	possibly damaging	Het
Scd2	A	G	19: 44,301,271	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,145,595	G722C	probably damaging	Het
Shmt1	A	T	11: 60,797,479		probably benign	Het
Slc12a1	A	G	2: 125,166,137	I206V	probably benign	Het
Slc26a3	A	G	12: 31,453,908	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572	D434V	possibly damaging	Het
Slc6a16	G	T	7: 45,259,966	M185I	probably benign	Het
Stat4	A	G	1: 52,082,570	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 128,248,217	M1I	probably null	Het
Tmem225	T	C	9: 40,149,343	V66A	probably benign	Het
Tmtc4	T	C	14: 122,941,302		probably null	Het
Trpc4	T	A	3: 54,194,796	N38K	probably benign	Het
Ttll12	A	T	15: 83,587,113	Y218N	probably damaging	Het
Ttn	A	T	2: 76,948,425		probably null	Het
Tulp1	A	C	17: 28,351,995	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,864,322	V299A	probably damaging	Het
Washc4	C	A	10: 83,583,336	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	A	T	5: 137,461,893	C1245*	probably null	Het
Zfyve9	A	C	4: 108,691,669	S773A	probably benign	Het

Other mutations in Frmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Frmd3	APN	4	74074120	missense	possibly damaging	0.62
IGL01774:Frmd3	APN	4	74187838	missense	probably damaging	1.00
IGL02213:Frmd3	APN	4	74135872	missense	probably benign	0.36
IGL02479:Frmd3	APN	4	74187515	missense	probably benign	0.30
IGL03248:Frmd3	APN	4	74128218	missense	possibly damaging	0.71
R0765:Frmd3	UTSW	4	74161767	missense	probably damaging	1.00
R1411:Frmd3	UTSW	4	74153621	missense	probably damaging	1.00
R1535:Frmd3	UTSW	4	74013758	start gained	probably benign
R1990:Frmd3	UTSW	4	74187439	missense	probably damaging	1.00
R3898:Frmd3	UTSW	4	74074109	missense	probably damaging	1.00
R4377:Frmd3	UTSW	4	74128298	critical splice donor site	probably null
R4616:Frmd3	UTSW	4	74187872	missense	probably benign	0.15
R4965:Frmd3	UTSW	4	74153600	missense	probably damaging	1.00
R5104:Frmd3	UTSW	4	74145078	missense	probably damaging	1.00
R5418:Frmd3	UTSW	4	74161698	critical splice acceptor site	probably null
R5434:Frmd3	UTSW	4	74187796	missense	probably damaging	1.00
R5878:Frmd3	UTSW	4	74153610	missense	probably damaging	1.00
R5999:Frmd3	UTSW	4	74170691	missense	possibly damaging	0.49
R6031:Frmd3	UTSW	4	74187451	missense	probably damaging	0.99
R6031:Frmd3	UTSW	4	74187451	missense	probably damaging	0.99
R6616:Frmd3	UTSW	4	74187488	missense	probably damaging	0.97
R6813:Frmd3	UTSW	4	74159245	missense	probably benign	0.00
R6941:Frmd3	UTSW	4	74098126	missense	probably benign	0.20
R7233:Frmd3	UTSW	4	74013786	missense	probably benign	0.09
R7334:Frmd3	UTSW	4	74161718	missense	probably benign	0.02
R7429:Frmd3	UTSW	4	74145105	missense	probably damaging	0.98
R7430:Frmd3	UTSW	4	74145105	missense	probably damaging	0.98
R7979:Frmd3	UTSW	4	74153615	missense	probably damaging	1.00
R8693:Frmd3	UTSW	4	74162049	missense	probably damaging	0.97
R8994:Frmd3	UTSW	4	74170748	missense	probably benign
R9065:Frmd3	UTSW	4	74145032	critical splice acceptor site	probably null
R9351:Frmd3	UTSW	4	74135831	missense	probably damaging	1.00
R9498:Frmd3	UTSW	4	74119818	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TCAGTCAAATGTCCCTTCCCAG -3'
(R):5'- TGTTATTGGAACCCAGGTCAGAG -3'

Sequencing Primer
(F):5'- TGCACCAGATGTTAGCTCAG -3'
(R):5'- TATTGGAACCCAGGTCAGAGAAAAAG -3'

Posted On

2017-01-23