Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02213:Frmd3'

284759

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, 9430066I12Rik, P410

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

IGL02213

Quality Score

Status

Chromosome

Chromosomal Location

73931679-74120451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74054109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 173 (I173L)

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: I173L

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: I173L

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: I173L

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: I173L

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,523,254 (GRCm39)	R458C	probably damaging	Het
Aldh6a1	T	A	12: 84,479,326 (GRCm39)		probably benign	Het
Ankrd13a	C	T	5: 114,924,029 (GRCm39)	R42W	probably damaging	Het
Arhgef17	T	C	7: 100,539,633 (GRCm39)	M73V	probably benign	Het
Borcs6	A	G	11: 68,950,679 (GRCm39)	E19G	probably benign	Het
Cacna2d2	C	T	9: 107,391,247 (GRCm39)	R425C	probably damaging	Het
Cap2	T	A	13: 46,789,087 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,521,902 (GRCm39)	R374H	probably benign	Het
Cdk5rap2	A	G	4: 70,235,839 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Dleu7	C	T	14: 62,514,404 (GRCm39)	V193M	probably benign	Het
Dmxl1	T	A	18: 50,010,741 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,272,752 (GRCm39)	F2293L	probably damaging	Het
Fgf22	G	T	10: 79,592,449 (GRCm39)	V75L	probably damaging	Het
Fras1	C	A	5: 96,793,730 (GRCm39)	C1017*	probably null	Het
Fst	T	C	13: 114,592,390 (GRCm39)	N109S	possibly damaging	Het
Greb1	A	G	12: 16,756,233 (GRCm39)	L801P	probably damaging	Het
Ift88	A	G	14: 57,715,502 (GRCm39)	D515G	probably damaging	Het
Kcnh7	T	C	2: 62,569,706 (GRCm39)	D730G	probably damaging	Het
Mbd1	A	T	18: 74,408,453 (GRCm39)	I231F	probably damaging	Het
Mre11a	T	A	9: 14,723,180 (GRCm39)	F358I	probably damaging	Het
Mroh9	G	T	1: 162,885,648 (GRCm39)	T328K	probably damaging	Het
Nostrin	T	C	2: 69,014,262 (GRCm39)	L406P	probably benign	Het
Ntrk3	T	A	7: 78,112,679 (GRCm39)	Q159L	probably benign	Het
Oca2	T	C	7: 55,971,232 (GRCm39)		probably benign	Het
Or4k49	A	T	2: 111,495,020 (GRCm39)	T150S	probably benign	Het
Or51af1	T	A	7: 103,141,695 (GRCm39)	H130L	probably benign	Het
Or5p54	T	C	7: 107,554,511 (GRCm39)	I221T	probably damaging	Het
Pfdn4	C	T	2: 170,357,695 (GRCm39)	Q21*	probably null	Het
Pkd1l3	T	C	8: 110,357,977 (GRCm39)	F823S	probably damaging	Het
Rnf212	C	T	5: 108,895,276 (GRCm39)		probably benign	Het
Sbspon	T	C	1: 15,929,150 (GRCm39)	S214G	probably benign	Het
Slc12a7	T	C	13: 73,945,822 (GRCm39)		probably null	Het
Ugt3a1	A	T	15: 9,370,310 (GRCm39)	M485L	probably benign	Het
Vav1	T	C	17: 57,612,351 (GRCm39)	V561A	possibly damaging	Het
Vldlr	A	G	19: 27,218,726 (GRCm39)	T485A	probably benign	Het
Wiz	T	C	17: 32,586,834 (GRCm39)	T159A	probably benign	Het

Other mutations in Frmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Frmd3	APN	4	73,992,357 (GRCm39)	missense	possibly damaging	0.62
IGL01774:Frmd3	APN	4	74,106,075 (GRCm39)	missense	probably damaging	1.00
IGL02479:Frmd3	APN	4	74,105,752 (GRCm39)	missense	probably benign	0.30
IGL03248:Frmd3	APN	4	74,046,455 (GRCm39)	missense	possibly damaging	0.71
R0765:Frmd3	UTSW	4	74,080,004 (GRCm39)	missense	probably damaging	1.00
R1411:Frmd3	UTSW	4	74,071,858 (GRCm39)	missense	probably damaging	1.00
R1535:Frmd3	UTSW	4	73,931,995 (GRCm39)	start gained	probably benign
R1990:Frmd3	UTSW	4	74,105,676 (GRCm39)	missense	probably damaging	1.00
R3898:Frmd3	UTSW	4	73,992,346 (GRCm39)	missense	probably damaging	1.00
R4377:Frmd3	UTSW	4	74,046,535 (GRCm39)	critical splice donor site	probably null
R4616:Frmd3	UTSW	4	74,106,109 (GRCm39)	missense	probably benign	0.15
R4965:Frmd3	UTSW	4	74,071,837 (GRCm39)	missense	probably damaging	1.00
R5024:Frmd3	UTSW	4	74,016,381 (GRCm39)	missense	probably benign	0.00
R5104:Frmd3	UTSW	4	74,063,315 (GRCm39)	missense	probably damaging	1.00
R5418:Frmd3	UTSW	4	74,079,935 (GRCm39)	critical splice acceptor site	probably null
R5434:Frmd3	UTSW	4	74,106,033 (GRCm39)	missense	probably damaging	1.00
R5878:Frmd3	UTSW	4	74,071,847 (GRCm39)	missense	probably damaging	1.00
R5999:Frmd3	UTSW	4	74,088,928 (GRCm39)	missense	possibly damaging	0.49
R6031:Frmd3	UTSW	4	74,105,688 (GRCm39)	missense	probably damaging	0.99
R6031:Frmd3	UTSW	4	74,105,688 (GRCm39)	missense	probably damaging	0.99
R6616:Frmd3	UTSW	4	74,105,725 (GRCm39)	missense	probably damaging	0.97
R6813:Frmd3	UTSW	4	74,077,482 (GRCm39)	missense	probably benign	0.00
R6941:Frmd3	UTSW	4	74,016,363 (GRCm39)	missense	probably benign	0.20
R7233:Frmd3	UTSW	4	73,932,023 (GRCm39)	missense	probably benign	0.09
R7334:Frmd3	UTSW	4	74,079,955 (GRCm39)	missense	probably benign	0.02
R7429:Frmd3	UTSW	4	74,063,342 (GRCm39)	missense	probably damaging	0.98
R7430:Frmd3	UTSW	4	74,063,342 (GRCm39)	missense	probably damaging	0.98
R7979:Frmd3	UTSW	4	74,071,852 (GRCm39)	missense	probably damaging	1.00
R8693:Frmd3	UTSW	4	74,080,286 (GRCm39)	missense	probably damaging	0.97
R8994:Frmd3	UTSW	4	74,088,985 (GRCm39)	missense	probably benign
R9065:Frmd3	UTSW	4	74,063,269 (GRCm39)	critical splice acceptor site	probably null
R9351:Frmd3	UTSW	4	74,054,068 (GRCm39)	missense	probably damaging	1.00
R9498:Frmd3	UTSW	4	74,038,055 (GRCm39)	missense	probably benign	0.26

Posted On

2015-04-16