Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Frmd3'

351033

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, P410, 9430066I12Rik

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74013442-74202214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74187872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 585 (V585A)

Ref Sequence

ENSEMBL: ENSMUSP00000081514 (fasta)

Gene Model

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

AlphaFold

Q8BHD4

Predicted Effect

probably benign
Transcript: ENSMUST00000084474
AA Change: V585A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: V585A

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

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154134

Meta Mutation Damage Score

0.1016

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	possibly damaging	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
R4965:Frmd3	UTSW	4	74153600	missense	probably damaging	1.00
R5024:Frmd3	UTSW	4	74098144	missense	probably benign	0.00
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'- AATCCTGACCGGCCATATCTGG -3'
(R):5'- CAAGGTTTGAGCAGTCAGTTAAG -3'

Sequencing Primer
(F):5'- CCTGGTCAAGAGTTTCTCCAGG -3'
(R):5'- GCAGTCAGTTAAGAGAGTTAAGAGTC -3'

Posted On

2015-10-08