Mutagenetix > Incidental Mutations

Incidental Mutation 'R6813:Frmd3'

533930

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, P410, 9430066I12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74013442-74202214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74159245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 259 (S259P)

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: S259P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: S259P

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: S259P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: S259P

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,282	N2337K	probably benign	Het
Adgrb2	C	A	4: 130,009,491	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,197,521	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,330,593	M164K	probably benign	Het
Asb13	G	T	13: 3,645,029	V166F	probably damaging	Het
Atm	T	G	9: 53,497,235	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,367,124	I626T	probably damaging	Het
Brsk2	A	G	7: 142,002,477	I649V	probably benign	Het
Ccdc25	T	A	14: 65,856,433	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,327,615	V231A	probably damaging	Het
Clstn3	T	A	6: 124,436,935	M767L	probably benign	Het
Col6a6	C	T	9: 105,783,941	R323K	probably benign	Het
Creld1	A	G	6: 113,489,569	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,112,734	D254E	probably benign	Het
Dab2ip	C	T	2: 35,730,473	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,520,957	S98R	possibly damaging	Het
Disp3	G	A	4: 148,259,930	P505L	probably benign	Het
Dlec1	A	T	9: 119,112,102	Q240L	probably benign	Het
Edil3	T	A	13: 89,289,456	I392N	probably damaging	Het
Epha10	T	A	4: 124,902,693	S398R		Het
Ephb1	A	G	9: 102,010,048	I464T	possibly damaging	Het
Eps15	T	A	4: 109,280,402		probably null	Het
Fam111a	T	A	19: 12,587,342	C152S	probably damaging	Het
Flt3	T	C	5: 147,354,843	E599G	probably damaging	Het
Gm15922	T	C	7: 3,736,003	H535R	probably benign	Het
Gm30302	T	A	13: 49,787,396	R279S	probably benign	Het
Hsfy2	A	G	1: 56,636,302	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,645,693	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,292,374	D818E	probably damaging	Het
Il4i1	A	G	7: 44,839,812	T334A	probably benign	Het
Irs2	G	A	8: 11,004,659	Q1258*	probably null	Het
Lsm1	T	G	8: 25,793,693	H44Q	probably benign	Het
Mgam	A	T	6: 40,750,165	M1257L	probably damaging	Het
Myc	T	C	15: 61,988,152	S225P	probably damaging	Het
Myh1	T	C	11: 67,220,460	V1575A	probably benign	Het
Myo9b	A	G	8: 71,323,305	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,696,192	D157V	probably damaging	Het
Olfr314	G	T	11: 58,786,646	Q137H	probably benign	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr877	A	C	9: 37,855,514	E232A	possibly damaging	Het
Olfr883	T	C	9: 38,025,833	V9A	probably damaging	Het
Olfr980	T	A	9: 40,006,457	H164L	probably benign	Het
Pccb	A	G	9: 101,023,215	V117A	probably damaging	Het
Pdp2	C	T	8: 104,594,499	H327Y	probably damaging	Het
Pdzph1	G	T	17: 58,974,436	Q284K	probably benign	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Phldb1	A	T	9: 44,699,568	S751R	probably damaging	Het
Ppp1r1b	T	A	11: 98,349,176		probably null	Het
Ppp1r3a	A	G	6: 14,719,571	V448A	probably benign	Het
Pvrig	A	T	5: 138,342,050	T28S	probably benign	Het
Rasgrf1	G	A	9: 90,010,484		probably null	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,981,811	D221E	probably benign	Het
Tmem30c	A	G	16: 57,281,259		probably null	Het
Tmem33	T	C	5: 67,264,459		probably null	Het
Ttc29	A	T	8: 78,333,620	T390S	probably benign	Het
Vamp5	G	A	6: 72,380,441		probably benign	Het
Vmn2r81	T	A	10: 79,268,605	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,581,854	H119R	probably benign	Het
Wdr3	G	A	3: 100,138,725	R931*	probably null	Het
Wdr78	T	C	4: 103,048,326	K753E	probably benign	Het
Wtap	A	T	17: 12,967,510	N383K	probably damaging	Het
Zfp808	T	C	13: 62,173,035	Y693H	probably damaging	Het

Other mutations in Frmd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Frmd3	APN	4	74074120	missense	possibly damaging	0.62
IGL01774:Frmd3	APN	4	74187838	missense	probably damaging	1.00
IGL02213:Frmd3	APN	4	74135872	missense	probably benign	0.36
IGL02479:Frmd3	APN	4	74187515	missense	probably benign	0.30
IGL03248:Frmd3	APN	4	74128218	missense	possibly damaging	0.71
R0765:Frmd3	UTSW	4	74161767	missense	probably damaging	1.00
R1411:Frmd3	UTSW	4	74153621	missense	probably damaging	1.00
R1535:Frmd3	UTSW	4	74013758	start gained	probably benign
R1990:Frmd3	UTSW	4	74187439	missense	probably damaging	1.00
R3898:Frmd3	UTSW	4	74074109	missense	probably damaging	1.00
R4377:Frmd3	UTSW	4	74128298	critical splice donor site	probably null
R4616:Frmd3	UTSW	4	74187872	missense	probably benign	0.15
R4965:Frmd3	UTSW	4	74153600	missense	probably damaging	1.00
R5024:Frmd3	UTSW	4	74098144	missense	probably benign	0.00
R5104:Frmd3	UTSW	4	74145078	missense	probably damaging	1.00
R5418:Frmd3	UTSW	4	74161698	critical splice acceptor site	probably null
R5434:Frmd3	UTSW	4	74187796	missense	probably damaging	1.00
R5878:Frmd3	UTSW	4	74153610	missense	probably damaging	1.00
R5999:Frmd3	UTSW	4	74170691	missense	possibly damaging	0.49
R6031:Frmd3	UTSW	4	74187451	missense	probably damaging	0.99
R6031:Frmd3	UTSW	4	74187451	missense	probably damaging	0.99
R6616:Frmd3	UTSW	4	74187488	missense	probably damaging	0.97
R6941:Frmd3	UTSW	4	74098126	missense	probably benign	0.20
R7233:Frmd3	UTSW	4	74013786	missense	probably benign	0.09
R7334:Frmd3	UTSW	4	74161718	missense	probably benign	0.02
R7429:Frmd3	UTSW	4	74145105	missense	probably damaging	0.98
R7430:Frmd3	UTSW	4	74145105	missense	probably damaging	0.98
R7979:Frmd3	UTSW	4	74153615	missense	probably damaging	1.00
R8693:Frmd3	UTSW	4	74162049	missense	probably damaging	0.97
R8994:Frmd3	UTSW	4	74170748	missense	probably benign
R9065:Frmd3	UTSW	4	74145032	critical splice acceptor site	probably null
R9351:Frmd3	UTSW	4	74135831	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTCCATTCTCAACAGACC -3'
(R):5'- TAGCTCTATCCAGTTAACATTGCTC -3'

Sequencing Primer
(F):5'- CCATTCTCAACAGACCATTATTGATG -3'
(R):5'- GGATTGCCATAAAAATTCTCTAGCTC -3'

Posted On

2018-09-12