Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Frmd3'

576300

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, 9430066I12Rik, P410

MMRRC Submission

045507-MU

Accession Numbers

Essential gene?

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

Stock #

R7429 (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 74063342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 223 (D223G)

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: D223G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: D223G

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: D223G

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

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: D223G

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

0.3039

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,028 (GRCm39)	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,634,445 (GRCm39)	D20G	possibly damaging	Het
Aadacl4fm2	T	A	4: 144,291,626 (GRCm39)	I27F	probably benign	Het
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Ankle2	C	T	5: 110,382,384 (GRCm39)	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,258,824 (GRCm39)	T765I	probably benign	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
Btbd7	T	C	12: 102,804,039 (GRCm39)	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,942 (GRCm39)	V216A	possibly damaging	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Etaa1	C	T	11: 17,890,281 (GRCm39)	R860Q	probably damaging	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fam184b	G	A	5: 45,698,230 (GRCm39)	T655I	probably benign	Het
Fcgr3	A	G	1: 170,885,442 (GRCm39)	M61T	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Galnt4	A	G	10: 98,945,610 (GRCm39)	H445R	probably damaging	Het
Gm44501	A	G	17: 40,887,517 (GRCm39)	T12A	probably null	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hs3st4	T	C	7: 123,996,605 (GRCm39)	F424L	probably damaging	Het
Ifi206	A	T	1: 173,308,157 (GRCm39)	V613E		Het
Insig1	T	C	5: 28,280,077 (GRCm39)	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,401,188 (GRCm39)	E500K	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,014,194 (GRCm39)		probably null	Het
Mark4	C	A	7: 19,160,092 (GRCm39)	G723C	probably damaging	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Or1p1c	T	A	11: 74,160,579 (GRCm39)	D121E	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,689,680 (GRCm39)	L435P	probably damaging	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,386,739 (GRCm39)	N517D	probably damaging	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Scarb2	T	C	5: 92,633,093 (GRCm39)	I80V	probably benign	Het
Serpinc1	A	G	1: 160,823,011 (GRCm39)	T251A	probably benign	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,086,631 (GRCm39)	D653G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Snx7	T	C	3: 117,630,861 (GRCm39)	N249S	probably benign	Het
Soat2	C	A	15: 102,062,735 (GRCm39)	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Taok2	T	C	7: 126,469,849 (GRCm39)	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,262,815 (GRCm39)	E12G	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,310,603 (GRCm39)	F301V	probably benign	Het
Zbp1	T	A	2: 173,055,611 (GRCm39)	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139 (GRCm39)	V273A	probably benign	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAGTGCTATTAATGTAAGGATC -3'
(R):5'- GGTGAACATTTACAGGTCTCTGGC -3'

Sequencing Primer
(F):5'- GGAACTACTCGTTATATTGATTG -3'
(R):5'- GCACAGATGCCAATCATGTC -3'

Posted On

2019-10-07