Mutagenetix > Incidental Mutation

Incidental Mutation 'R5434:Frmd3'

428200

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, 9430066I12Rik, P410

MMRRC Submission

042999-MU

Accession Numbers

Essential gene?

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

Stock #

R5434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73931679-74120451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74106033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 560 (I560F)

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: I560F

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

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: I560F

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

0.3459

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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
Angptl6	G	T	9: 20,786,821 (GRCm39)	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,344,013 (GRCm39)	Y323C	probably damaging	Het
Arid5b	T	A	10: 67,932,719 (GRCm39)	H818L	possibly damaging	Het
Atg13	G	T	2: 91,515,110 (GRCm39)		probably null	Het
Bltp1	A	C	3: 36,929,665 (GRCm39)	D94A	probably damaging	Het
Bop1	T	C	15: 76,339,611 (GRCm39)	M245V	probably benign	Het
Ces2a	T	A	8: 105,464,041 (GRCm39)	F224L	probably damaging	Het
Cntnap5b	A	G	1: 99,999,926 (GRCm39)	H228R	probably benign	Het
Col9a2	A	T	4: 120,898,162 (GRCm39)	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744 (GRCm39)	T137N	probably benign	Het
Dennd4c	A	G	4: 86,729,693 (GRCm39)	N765S	probably benign	Het
Dnah12	A	G	14: 26,581,256 (GRCm39)	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,010,756 (GRCm39)	C123F	possibly damaging	Het
Flvcr1	C	A	1: 190,758,206 (GRCm39)	A29S	probably benign	Het
Galnt15	G	A	14: 31,771,800 (GRCm39)	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,006,405 (GRCm39)	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464 (GRCm39)	Y218*	probably null	Het
Hmcn2	C	A	2: 31,310,375 (GRCm39)	T3323N	probably damaging	Het
Idh1	T	A	1: 65,214,495 (GRCm39)	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,322,813 (GRCm39)		noncoding transcript	Het
Kcnj10	T	A	1: 172,197,047 (GRCm39)	V187E	probably damaging	Het
Khnyn	A	G	14: 56,124,957 (GRCm39)	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,660,880 (GRCm39)	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,500,862 (GRCm39)	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mgp	T	A	6: 136,849,772 (GRCm39)	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,448,588 (GRCm39)	H40Q	probably benign	Het
Necab3	A	G	2: 154,389,379 (GRCm39)	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,332,372 (GRCm39)	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861 (GRCm39)	R486W	probably damaging	Het
Nwd2	A	G	5: 63,964,991 (GRCm39)	K1525R	probably benign	Het
Odad2	T	C	18: 7,222,550 (GRCm39)	K573R	probably benign	Het
Pbrm1	G	T	14: 30,806,968 (GRCm39)	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,237,783 (GRCm39)	S872P	possibly damaging	Het
Retsat	A	G	6: 72,578,518 (GRCm39)	I77V	probably damaging	Het
Rpl32	A	G	6: 115,783,996 (GRCm39)	F77L	probably benign	Het
Ryr3	A	T	2: 112,624,814 (GRCm39)	V2202D	probably damaging	Het
Sars2	G	A	7: 28,449,716 (GRCm39)	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,006,263 (GRCm39)	T275N	probably benign	Het
Sf3a1	C	A	11: 4,124,041 (GRCm39)	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,025,744 (GRCm39)		probably benign	Het
St3gal3	A	G	4: 117,797,247 (GRCm39)	L332P	probably damaging	Het
Ston1	A	G	17: 88,952,739 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,018,649 (GRCm39)	S3383T	probably damaging	Het
Tektl1	A	T	10: 78,584,484 (GRCm39)	L346*	probably null	Het
Tnfsf14	A	G	17: 57,499,592 (GRCm39)	S87P	probably benign	Het
Trap1	T	C	16: 3,862,529 (GRCm39)	D583G	probably benign	Het
Ube3d	A	T	9: 86,309,460 (GRCm39)	I212N	possibly damaging	Het
Usp34	T	A	11: 23,362,271 (GRCm39)	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,628,387 (GRCm39)	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,767,470 (GRCm39)	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	C	T	3: 159,639,976 (GRCm39)	R536C	probably damaging	Het
Zfhx3	A	G	8: 109,519,031 (GRCm39)	D51G	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
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

Predicted Primers

PCR Primer
(F):5'- CGCCAAGCTTTGTCATGGAG -3'
(R):5'- GGTTTGAGCAGTCAGTTAAGAG -3'

Sequencing Primer
(F):5'- ATGGAGCTATTCAATCCTGACCGG -3'
(R):5'- GACTACCTCTTGACAACTGAAGG -3'

Posted On

2016-09-01