Mutagenetix > Incidental Mutations

Incidental Mutation 'R5878:Frmd3'

455645

Institutional Source

Beutler Lab

Gene Symbol

Frmd3

Ensembl Gene

ENSMUSG00000049122

Gene Name

FERM domain containing 3

Synonyms

4.1O, EPB41L4O, P410, 9430066I12Rik

MMRRC Submission

044084-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74013442-74202214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74153610 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 243 (G243D)

Ref Sequence

ENSEMBL: ENSMUSP00000095615 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084474
AA Change: G243D

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

SMART Domains

Protein: ENSMUSP00000081514
Gene: ENSMUSG00000049122
AA Change: G243D

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: G243D

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

SMART Domains

Protein: ENSMUSP00000095615
Gene: ENSMUSG00000049122
AA Change: G243D

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: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,960	S387T	probably benign	Het
Abca12	A	T	1: 71,346,633	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286	V6I	probably benign	Het
Afap1l2	T	C	19: 56,915,675	T727A	probably benign	Het
Aggf1	T	C	13: 95,369,557	E174G	probably benign	Het
Ahnak	T	G	19: 9,008,342	L2330R	probably damaging	Het
Arfgef2	A	G	2: 166,870,217	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,229,016	L217P	probably benign	Het
Cfap54	T	C	10: 92,964,561	D1595G	probably benign	Het
Cps1	G	T	1: 67,157,878		probably null	Het
Fam120b	A	G	17: 15,402,240	D160G	probably damaging	Het
Fam172a	T	A	13: 77,952,067	V129E	probably damaging	Het
Fezf1	C	A	6: 23,247,581	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,306,908	L838H	probably benign	Het
Gldc	A	T	19: 30,143,467		probably null	Het
Gm10188	T	C	1: 132,229,202		probably benign	Het
Gm5190	T	A	12: 113,397,239		noncoding transcript	Het
Gria1	T	C	11: 57,317,802		probably null	Het
Hdhd5	A	G	6: 120,514,524	L206P	probably damaging	Het
Herc2	A	G	7: 56,124,248	N1149S	probably benign	Het
Inca1	G	A	11: 70,695,982		probably benign	Het
Iqch	G	A	9: 63,547,990	S175F	probably damaging	Het
Itpr3	T	G	17: 27,110,862	D1543E	probably benign	Het
Khk	T	A	5: 30,930,875		probably null	Het
Kiz	C	T	2: 146,889,601	S337L	probably damaging	Het
Lzts3	G	A	2: 130,636,539	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,546,718	D325V	probably damaging	Het
Mctp2	A	G	7: 72,214,108	S336P	probably benign	Het
Me3	T	A	7: 89,848,006	L405Q	probably benign	Het
Mgst2	A	T	3: 51,661,230		probably benign	Het
Myh2	A	G	11: 67,192,504	E1431G	probably damaging	Het
Naip6	A	G	13: 100,299,673	S781P	probably damaging	Het
Nr3c2	A	G	8: 76,908,268		probably null	Het
Olfr509	A	T	7: 108,645,739	L279Q	probably damaging	Het
Olfr750	A	G	14: 51,070,992	Y134H	probably damaging	Het
Olfr986	C	T	9: 40,187,571	T152I	probably benign	Het
Otop1	G	T	5: 38,277,822	R132L	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,687,686	G763W	probably benign	Het
Pde10a	A	G	17: 8,949,372	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,100,641	I147T	probably benign	Het
Polh	T	A	17: 46,194,325	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,477,118	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,728,785	C132F	probably damaging	Het
Rbm19	T	A	5: 120,132,867	V585E	probably damaging	Het
Rp1l1	C	T	14: 64,028,906	P647L	probably benign	Het
Rrp1b	A	G	17: 32,047,675	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,748,742	H392Q	probably benign	Het
Skiv2l	C	T	17: 34,846,117	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,253,391	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,926,757	E5V	probably benign	Het
Slc38a2	A	G	15: 96,692,584	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,463,836		probably benign	Het
Sri	G	C	5: 8,059,353	D46H	probably damaging	Het
Tango6	A	G	8: 106,689,168	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,594,442	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,173	D194G	probably benign	Het
Trank1	T	C	9: 111,366,685	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,148,798	D70G	probably benign	Het
Trim52	T	A	14: 106,106,941	M11K	probably damaging	Het
Wdr62	A	G	7: 30,241,347	M882T	probably benign	Het
Ybx3	A	G	6: 131,367,763		probably null	Het
Zfand2b	A	G	1: 75,170,510		probably benign	Het
Zfp91	T	A	19: 12,770,320	T480S	possibly 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
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
R6813:Frmd3	UTSW	4	74159245	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- AACAATAGGTAACCCCAGATTTTGTCC -3'
(R):5'- AAGTTGACAGTTAAAGCTAACTACC -3'

Sequencing Primer
(F):5'- CCCCAGATTTTGTCCAGAATTTAG -3'
(R):5'- GAAGGATGCACTTACCATT -3'

Posted On

2017-02-10