Mutagenetix > Incidental Mutation

Incidental Mutation 'R5733:Frmd4a'

451520

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

2700017I06Rik, C230040M21Rik, Gm13190

MMRRC Submission

043193-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5733 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4022528-4618854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4305768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 14 (R14S)

Ref Sequence

ENSEMBL: ENSMUSP00000135306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091497] [ENSMUST00000175669] [ENSMUST00000176803] [ENSMUST00000177457]

AlphaFold

Q8BIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000091497

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657

Domain	Start	End	E-Value	Type
B41	12	217	3.24e-40	SMART
FERM_C	221	322	7.69e-27	SMART
Pfam:DUF3338	352	487	6.3e-61	PFAM
low complexity region	569	582	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC
low complexity region	743	752	N/A	INTRINSIC
low complexity region	775	796	N/A	INTRINSIC
low complexity region	801	812	N/A	INTRINSIC
low complexity region	935	958	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156609

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175669
AA Change: R14S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657
AA Change: R14S

Domain	Start	End	E-Value	Type
B41	31	236	3.24e-40	SMART
FERM_C	240	341	7.69e-27	SMART
low complexity region	371	387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176803

SMART Domains

Protein: ENSMUSP00000135432
Gene: ENSMUSG00000026657

Domain	Start	End	E-Value	Type
Pfam:FERM_N	10	89	5.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177457

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657

Domain	Start	End	E-Value	Type
B41	16	221	3.24e-40	SMART
FERM_C	225	326	7.69e-27	SMART
Pfam:DUF3338	355	492	3.9e-63	PFAM
low complexity region	573	586	N/A	INTRINSIC
low complexity region	625	638	N/A	INTRINSIC
low complexity region	747	756	N/A	INTRINSIC
low complexity region	779	800	N/A	INTRINSIC
low complexity region	805	816	N/A	INTRINSIC
low complexity region	939	962	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	A	5: 35,762,543 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,742,100 (GRCm39)	Y657*	probably null	Het
Anxa3	T	A	5: 96,968,331 (GRCm39)	I128N	probably damaging	Het
Bsnd	T	C	4: 106,345,198 (GRCm39)	T83A	probably benign	Het
Capn10	A	G	1: 92,871,635 (GRCm39)	Y411C	probably benign	Het
Capn3	G	A	2: 120,315,075 (GRCm39)	W201*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
Daam1	A	G	12: 71,992,272 (GRCm39)	D329G	unknown	Het
Dmxl2	A	T	9: 54,283,550 (GRCm39)	L2761Q	possibly damaging	Het
Fcho2	A	C	13: 98,926,310 (GRCm39)	V91G	probably damaging	Het
Fen1	A	T	19: 10,178,022 (GRCm39)	C141S	possibly damaging	Het
Fkbp15	G	C	4: 62,225,166 (GRCm39)	A831G	probably benign	Het
Fzr1	A	G	10: 81,206,160 (GRCm39)	F176L	possibly damaging	Het
Garem2	A	G	5: 30,321,336 (GRCm39)	D565G	probably damaging	Het
Garre1	A	T	7: 33,944,505 (GRCm39)	S76T	probably damaging	Het
Iqca1	G	T	1: 89,998,257 (GRCm39)	T549K	probably damaging	Het
Itgax	T	A	7: 127,739,647 (GRCm39)	S686R	probably damaging	Het
Knop1	C	A	7: 118,445,305 (GRCm39)	G220C	probably damaging	Het
Lyzl1	T	A	18: 4,169,142 (GRCm39)	C49S	probably damaging	Het
Mpzl1	A	T	1: 165,433,180 (GRCm39)	I157K	probably benign	Het
Mrgprb2	T	C	7: 48,202,261 (GRCm39)	I155V	probably benign	Het
Mucl3	T	C	17: 35,949,102 (GRCm39)	M166V	probably benign	Het
Mvb12b	T	C	2: 33,717,728 (GRCm39)	T167A	probably benign	Het
Myh3	A	G	11: 66,979,445 (GRCm39)	N491S	probably benign	Het
Myo5b	A	G	18: 74,787,128 (GRCm39)	D511G	possibly damaging	Het
Or10ak8	C	T	4: 118,774,035 (GRCm39)	V210I	probably benign	Het
Or11h4	T	C	14: 50,974,509 (GRCm39)	T37A	probably benign	Het
Or6b1	C	T	6: 42,815,180 (GRCm39)	R122C	probably damaging	Het
Or8k21	T	G	2: 86,145,558 (GRCm39)	Q24P	probably damaging	Het
Ptcd1	A	G	5: 145,091,671 (GRCm39)	M476T	probably damaging	Het
Pum3	A	G	19: 27,398,695 (GRCm39)		probably null	Het
Ranbp2	G	A	10: 58,321,658 (GRCm39)	D2652N	probably damaging	Het
Rassf1	T	C	9: 107,435,213 (GRCm39)	V166A	probably damaging	Het
Rictor	A	G	15: 6,812,585 (GRCm39)	H907R	probably benign	Het
Rorb	T	C	19: 18,965,471 (GRCm39)	E6G	probably damaging	Het
Serpina3f	A	T	12: 104,183,182 (GRCm39)	T15S	possibly damaging	Het
Sorbs2	T	C	8: 46,212,226 (GRCm39)	L100P	probably damaging	Het
Sprr2k	T	C	3: 92,340,655 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,040,360 (GRCm39)	S2431T	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Ttc21a	G	A	9: 119,770,327 (GRCm39)	V133I	probably benign	Het
Vasn	T	C	16: 4,468,026 (GRCm39)	Y658H	possibly damaging	Het
Zfp251	A	G	15: 76,754,527 (GRCm39)	Y35H	probably damaging	Het

Other mutations in Frmd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Frmd4a	APN	2	4,599,525 (GRCm39)	missense	probably benign	0.00
IGL00508:Frmd4a	APN	2	4,599,545 (GRCm39)	nonsense	probably null
IGL01331:Frmd4a	APN	2	4,607,036 (GRCm39)	missense	probably benign	0.32
IGL01774:Frmd4a	APN	2	4,540,047 (GRCm39)	splice site	probably benign
IGL01909:Frmd4a	APN	2	4,608,844 (GRCm39)	missense	probably benign	0.11
IGL02170:Frmd4a	APN	2	4,570,988 (GRCm39)	missense	probably damaging	0.99
IGL02269:Frmd4a	APN	2	4,609,045 (GRCm39)	missense	probably benign	0.19
IGL02377:Frmd4a	APN	2	4,539,385 (GRCm39)	missense	possibly damaging	0.47
IGL03308:Frmd4a	APN	2	4,502,837 (GRCm39)	missense	possibly damaging	0.95
R0066:Frmd4a	UTSW	2	4,477,963 (GRCm39)	missense	probably damaging	1.00
R0066:Frmd4a	UTSW	2	4,477,963 (GRCm39)	missense	probably damaging	1.00
R0081:Frmd4a	UTSW	2	4,577,252 (GRCm39)	critical splice donor site	probably null
R0128:Frmd4a	UTSW	2	4,608,903 (GRCm39)	missense	probably damaging	0.98
R0130:Frmd4a	UTSW	2	4,608,903 (GRCm39)	missense	probably damaging	0.98
R0376:Frmd4a	UTSW	2	4,577,198 (GRCm39)	missense	probably damaging	0.97
R0529:Frmd4a	UTSW	2	4,610,834 (GRCm39)	missense	probably damaging	1.00
R0549:Frmd4a	UTSW	2	4,608,778 (GRCm39)	missense	possibly damaging	0.76
R1593:Frmd4a	UTSW	2	4,477,999 (GRCm39)	missense	probably damaging	1.00
R1959:Frmd4a	UTSW	2	4,539,997 (GRCm39)	missense	probably damaging	1.00
R2002:Frmd4a	UTSW	2	4,577,176 (GRCm39)	missense	probably damaging	1.00
R2100:Frmd4a	UTSW	2	4,610,834 (GRCm39)	missense	probably damaging	1.00
R2310:Frmd4a	UTSW	2	4,577,210 (GRCm39)	frame shift	probably null
R2340:Frmd4a	UTSW	2	4,591,187 (GRCm39)	missense	probably damaging	1.00
R2426:Frmd4a	UTSW	2	4,534,673 (GRCm39)	missense	probably damaging	1.00
R2680:Frmd4a	UTSW	2	4,539,364 (GRCm39)	missense	probably damaging	1.00
R3409:Frmd4a	UTSW	2	4,157,839 (GRCm39)	intron	probably benign
R3772:Frmd4a	UTSW	2	4,595,433 (GRCm39)	missense	probably damaging	0.99
R3773:Frmd4a	UTSW	2	4,595,433 (GRCm39)	missense	probably damaging	0.99
R3932:Frmd4a	UTSW	2	4,542,071 (GRCm39)	missense	probably damaging	1.00
R4094:Frmd4a	UTSW	2	4,615,843 (GRCm39)	missense	probably damaging	1.00
R4226:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4299:Frmd4a	UTSW	2	4,337,882 (GRCm39)	missense	probably benign	0.02
R4304:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4306:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4307:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4346:Frmd4a	UTSW	2	4,612,844 (GRCm39)	missense	possibly damaging	0.92
R4360:Frmd4a	UTSW	2	4,606,052 (GRCm39)	missense	probably damaging	1.00
R4384:Frmd4a	UTSW	2	4,599,374 (GRCm39)	nonsense	probably null
R4547:Frmd4a	UTSW	2	4,477,956 (GRCm39)	missense	probably damaging	1.00
R4575:Frmd4a	UTSW	2	4,608,490 (GRCm39)	missense	possibly damaging	0.83
R4577:Frmd4a	UTSW	2	4,608,490 (GRCm39)	missense	possibly damaging	0.83
R4578:Frmd4a	UTSW	2	4,608,490 (GRCm39)	missense	possibly damaging	0.83
R4688:Frmd4a	UTSW	2	4,542,122 (GRCm39)	missense	possibly damaging	0.81
R4764:Frmd4a	UTSW	2	4,608,259 (GRCm39)	missense	probably damaging	1.00
R4826:Frmd4a	UTSW	2	4,606,108 (GRCm39)	missense	probably damaging	1.00
R4879:Frmd4a	UTSW	2	4,534,628 (GRCm39)	missense	probably damaging	1.00
R5053:Frmd4a	UTSW	2	4,608,732 (GRCm39)	missense	probably damaging	1.00
R5392:Frmd4a	UTSW	2	4,599,384 (GRCm39)	missense	probably damaging	1.00
R5762:Frmd4a	UTSW	2	4,488,876 (GRCm39)	missense	probably damaging	1.00
R5920:Frmd4a	UTSW	2	4,337,927 (GRCm39)	missense	probably benign	0.02
R5932:Frmd4a	UTSW	2	4,534,650 (GRCm39)	missense	probably damaging	1.00
R6117:Frmd4a	UTSW	2	4,607,060 (GRCm39)	missense	possibly damaging	0.66
R6328:Frmd4a	UTSW	2	4,595,509 (GRCm39)	missense	probably damaging	0.99
R6622:Frmd4a	UTSW	2	4,610,873 (GRCm39)	missense	probably benign	0.00
R6903:Frmd4a	UTSW	2	4,591,267 (GRCm39)	missense	probably damaging	1.00
R7065:Frmd4a	UTSW	2	4,570,923 (GRCm39)
R7098:Frmd4a	UTSW	2	4,577,244 (GRCm39)	missense	probably damaging	1.00
R7258:Frmd4a	UTSW	2	4,305,764 (GRCm39)	missense	probably benign
R7336:Frmd4a	UTSW	2	4,478,025 (GRCm39)	missense	possibly damaging	0.92
R7582:Frmd4a	UTSW	2	4,599,408 (GRCm39)	frame shift	probably null
R7607:Frmd4a	UTSW	2	4,596,747 (GRCm39)	nonsense	probably null
R7697:Frmd4a	UTSW	2	4,488,892 (GRCm39)	missense	probably damaging	1.00
R7750:Frmd4a	UTSW	2	4,606,160 (GRCm39)	missense	probably benign	0.14
R7795:Frmd4a	UTSW	2	4,595,506 (GRCm39)	missense	probably damaging	1.00
R7848:Frmd4a	UTSW	2	4,596,728 (GRCm39)	intron	probably benign
R7899:Frmd4a	UTSW	2	4,608,900 (GRCm39)	missense	probably damaging	1.00
R8024:Frmd4a	UTSW	2	4,608,513 (GRCm39)	missense	probably damaging	1.00
R8399:Frmd4a	UTSW	2	4,577,244 (GRCm39)	missense	probably damaging	1.00
R8778:Frmd4a	UTSW	2	4,478,026 (GRCm39)	missense	probably damaging	1.00
R8876:Frmd4a	UTSW	2	4,606,111 (GRCm39)	missense	probably damaging	0.99
R9074:Frmd4a	UTSW	2	4,608,765 (GRCm39)	missense	probably damaging	1.00
R9075:Frmd4a	UTSW	2	4,608,765 (GRCm39)	missense	probably damaging	1.00
R9076:Frmd4a	UTSW	2	4,608,765 (GRCm39)	missense	probably damaging	1.00
R9105:Frmd4a	UTSW	2	4,539,994 (GRCm39)	missense	probably damaging	0.96
R9213:Frmd4a	UTSW	2	4,608,372 (GRCm39)	missense	probably damaging	1.00
R9227:Frmd4a	UTSW	2	4,612,844 (GRCm39)	missense	possibly damaging	0.92
R9230:Frmd4a	UTSW	2	4,612,844 (GRCm39)	missense	possibly damaging	0.92
R9235:Frmd4a	UTSW	2	4,599,366 (GRCm39)	missense	probably damaging	0.99
R9266:Frmd4a	UTSW	2	4,610,846 (GRCm39)	missense	probably damaging	0.99
R9301:Frmd4a	UTSW	2	4,157,904 (GRCm39)	missense	probably benign	0.27
R9307:Frmd4a	UTSW	2	4,609,044 (GRCm39)	missense	probably benign
R9365:Frmd4a	UTSW	2	4,606,973 (GRCm39)	missense	probably benign	0.01
R9476:Frmd4a	UTSW	2	4,608,324 (GRCm39)	missense	probably benign	0.32
R9484:Frmd4a	UTSW	2	4,609,026 (GRCm39)	missense	possibly damaging	0.49
R9510:Frmd4a	UTSW	2	4,608,324 (GRCm39)	missense	probably benign	0.32
R9513:Frmd4a	UTSW	2	4,608,711 (GRCm39)	missense	probably damaging	0.99
Z1176:Frmd4a	UTSW	2	4,502,832 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGCAGAAAACGCTTTCAG -3'
(R):5'- GAAGTTCCCCTATTGCCCAG -3'

Sequencing Primer
(F):5'- TCTCCAGAAGACCACAGTTTAG -3'
(R):5'- TATTGCCCAGGAAAAACATCAGTAG -3'

Posted On

2017-01-03