Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01774:Frmd3'

154057

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 #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

73931679-74120451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74106075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 574 (Y574H)

Ref Sequence

ENSEMBL: ENSMUSP00000081514 (fasta)

Gene Model

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

AlphaFold

Q8BHD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000084474
AA Change: Y574H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: Y574H

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,077,058 (GRCm39)	D708G	probably damaging	Het
Abca16	T	C	7: 120,021,024 (GRCm39)		probably benign	Het
Abcc5	T	C	16: 20,197,207 (GRCm39)	D674G	probably damaging	Het
Abr	A	G	11: 76,355,125 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,619,363 (GRCm39)	I4T	possibly damaging	Het
Btla	A	G	16: 45,070,911 (GRCm39)	N290S	possibly damaging	Het
Catip	C	A	1: 74,407,642 (GRCm39)	R325S	probably damaging	Het
Cep120	A	G	18: 53,839,902 (GRCm39)	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,006,133 (GRCm39)	I221V	probably benign	Het
Eloc	A	T	1: 16,716,013 (GRCm39)	D37E	probably benign	Het
Fabp12	A	C	3: 10,312,754 (GRCm39)	N89K	probably benign	Het
Ficd	G	T	5: 113,877,073 (GRCm39)	R416L	probably damaging	Het
Frmd4a	T	C	2: 4,540,047 (GRCm39)		probably benign	Het
Gatc	G	A	5: 115,479,076 (GRCm39)	Q45*	probably null	Het
Gm5414	T	C	15: 101,535,410 (GRCm39)	D225G	probably benign	Het
Itpkc	G	T	7: 26,911,795 (GRCm39)	A592E	probably benign	Het
Kl	G	T	5: 150,911,948 (GRCm39)	V566L	probably benign	Het
Lpin1	T	A	12: 16,608,477 (GRCm39)	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,692,880 (GRCm39)	Y483C	probably damaging	Het
Neb	C	T	2: 52,112,982 (GRCm39)	W67*	probably null	Het
Nrarp	T	C	2: 25,071,298 (GRCm39)	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or52n20	T	C	7: 104,320,149 (GRCm39)	I80T	probably benign	Het
Pacs2	T	A	12: 113,020,462 (GRCm39)	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,276 (GRCm39)	K420R	probably benign	Het
Rag2	A	G	2: 101,460,392 (GRCm39)	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,440,554 (GRCm39)	Q88*	probably null	Het
Rictor	T	C	15: 6,799,258 (GRCm39)	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,871,339 (GRCm39)	Q276*	probably null	Het
Tas2r134	C	T	2: 51,518,160 (GRCm39)	T213I	probably benign	Het
Tecpr1	A	G	5: 144,148,358 (GRCm39)	I349T	probably damaging	Het
Tnxb	T	C	17: 34,907,813 (GRCm39)	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,513,113 (GRCm39)	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,889 (GRCm39)	I229L	probably benign	Het
Vnn1	T	C	10: 23,776,608 (GRCm39)	Y320H	probably benign	Het
Zfp990	T	C	4: 145,263,518 (GRCm39)	V172A	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
IGL02213:Frmd3	APN	4	74,054,109 (GRCm39)	missense	probably benign	0.36
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

2014-02-04