Mutagenetix > Incidental Mutation

Incidental Mutation 'R9351:Frmd3'

708055

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, 9430066I12Rik, P410

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73931679-74120451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74054068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 159 (E159G)

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: E159G

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

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: E159G

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 damaging
Transcript: ENSMUST00000098006
AA Change: E159G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: E159G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,068 (GRCm39)	T84A	probably benign	Het
Abca17	G	A	17: 24,510,751 (GRCm39)	S909L	probably benign	Het
Adamtsl3	A	T	7: 82,169,929 (GRCm39)	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,236,228 (GRCm39)	S394R	probably damaging	Het
Ahcyl1	T	C	3: 107,575,011 (GRCm39)	N444S	probably damaging	Het
Ahnak	A	C	19: 8,985,232 (GRCm39)	D2172A	probably damaging	Het
Arhgef28	C	T	13: 98,130,576 (GRCm39)	D421N	probably benign	Het
Brd1	T	A	15: 88,614,307 (GRCm39)	E196V	possibly damaging	Het
Cabs1	A	G	5: 88,128,300 (GRCm39)	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,642,069 (GRCm39)	I25T	unknown	Het
Clgn	A	G	8: 84,153,218 (GRCm39)	R607G	possibly damaging	Het
Clp1	T	C	2: 84,554,195 (GRCm39)	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,975,185 (GRCm39)	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911 (GRCm39)	T16I	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,771 (GRCm39)	I411F	probably benign	Het
Epb41l5	A	G	1: 119,477,639 (GRCm39)	F711L	probably benign	Het
Esr1	G	A	10: 4,696,763 (GRCm39)	W204*	probably null	Het
Fat2	A	G	11: 55,172,127 (GRCm39)	L2862P	probably damaging	Het
Gsto2	T	A	19: 47,874,608 (GRCm39)	C243S	possibly damaging	Het
Heg1	A	G	16: 33,545,867 (GRCm39)	H206R	probably benign	Het
Ifi203	A	G	1: 173,750,133 (GRCm39)	V862A	probably benign	Het
Ippk	C	T	13: 49,615,107 (GRCm39)	H497Y	probably benign	Het
Irf5	A	T	6: 29,531,317 (GRCm39)	N61I	possibly damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kcnj12	C	T	11: 60,960,673 (GRCm39)	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Lars2	A	G	9: 123,265,366 (GRCm39)	Q474R	probably benign	Het
Lctl	T	C	9: 64,040,473 (GRCm39)	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,401,223 (GRCm39)	S590P	probably benign	Het
Mcf2l	G	T	8: 13,050,757 (GRCm39)	L337F	possibly damaging	Het
Mvp	A	G	7: 126,595,435 (GRCm39)	V225A	probably damaging	Het
Nfat5	T	A	8: 108,065,910 (GRCm39)	D241E	probably damaging	Het
Or6n2	T	A	1: 173,897,021 (GRCm39)	D52E	probably benign	Het
Pagr1a	A	T	7: 126,616,073 (GRCm39)	H7Q	probably damaging	Het
Parp8	G	T	13: 117,000,781 (GRCm39)	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,429,369 (GRCm39)	N90K	probably damaging	Het
Pde6h	A	G	6: 136,936,332 (GRCm39)	K25R	probably benign	Het
Prr35	G	A	17: 26,166,118 (GRCm39)	Q390*	probably null	Het
Psd3	C	A	8: 68,413,301 (GRCm39)	A410S	probably benign	Het
Pus10	A	G	11: 23,617,311 (GRCm39)	N8S	probably benign	Het
Rnf115	T	C	3: 96,695,994 (GRCm39)	L260S	probably damaging	Het
Sdsl	A	T	5: 120,601,159 (GRCm39)	Y38N	probably benign	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,047 (GRCm39)	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,816,900 (GRCm39)	V147I	probably benign	Het
Tmed3	A	T	9: 89,584,980 (GRCm39)	F92I	possibly damaging	Het
Tmprss15	T	C	16: 78,832,086 (GRCm39)	T357A	probably damaging	Het
Trbv14	A	T	6: 41,112,428 (GRCm39)	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,578,482 (GRCm39)	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,016,333 (GRCm39)	M266L	probably benign	Het
Wdr17	T	C	8: 55,143,057 (GRCm39)	I198V	probably benign	Het
Wdr27	G	A	17: 15,128,833 (GRCm39)	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,349,447 (GRCm39)	Y372*	probably null	Het
Zfp286	A	G	11: 62,670,801 (GRCm39)	V424A	probably damaging	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
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
R9498:Frmd3	UTSW	4	74,038,055 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- AATTAGGCTGGTGGTTTCCCC -3'
(R):5'- CCAGAAACATTTCTCTGTAAGCTCAAG -3'

Sequencing Primer
(F):5'- AAGACAGTGTGTGCTCTC -3'
(R):5'- AGCTGCCTATTCACATTTCAAATAC -3'

Posted On

2022-04-18