Mutagenetix > Incidental Mutation

Incidental Mutation 'R5920:Frmd4a'

461505

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

2700017I06Rik, C230040M21Rik, Gm13190

MMRRC Submission

044117-MU

Accession Numbers

Essential gene?

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

Stock #

R5920 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4022528-4618854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4337927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 44 (N44K)

Ref Sequence

ENSEMBL: ENSMUSP00000135686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091497] [ENSMUST00000175669] [ENSMUST00000175944] [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: ENSMUST00000147156

Predicted Effect

probably benign
Transcript: ENSMUST00000175669

SMART Domains

Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657

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: ENSMUST00000175944
AA Change: N44K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: N44K

Domain	Start	End	E-Value	Type
B41	49	254	3.24e-40	SMART
FERM_C	258	359	7.69e-27	SMART
Pfam:DUF3338	388	525	6.5e-64	PFAM

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: 99.8%
3x: 99.4%
10x: 97.4%
20x: 92.4%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,164,091 (GRCm39)	K31E	probably damaging	Het
Ak9	T	A	10: 41,296,672 (GRCm39)	C1473S	probably benign	Het
Aox1	T	C	1: 58,088,631 (GRCm39)	L139S	probably damaging	Het
Arhgap45	T	A	10: 79,864,965 (GRCm39)	V849D	possibly damaging	Het
Atp13a1	G	A	8: 70,252,746 (GRCm39)	E689K	probably benign	Het
Calcr	G	A	6: 3,722,994 (GRCm39)	R11W	probably damaging	Het
Casd1	T	A	6: 4,641,853 (GRCm39)	L710Q	probably null	Het
Cenpc1	T	A	5: 86,168,769 (GRCm39)	T743S	probably benign	Het
Cfap43	A	G	19: 47,749,335 (GRCm39)	V1185A	possibly damaging	Het
Chd2	A	G	7: 73,187,060 (GRCm39)	L33P	probably damaging	Het
Col24a1	G	T	3: 145,133,985 (GRCm39)	G889C	probably damaging	Het
Cracdl	T	A	1: 37,677,062 (GRCm39)	K40M	probably damaging	Het
Dbh	T	C	2: 27,067,243 (GRCm39)		probably benign	Het
Dcdc2c	T	C	12: 28,585,536 (GRCm39)	I154V	possibly damaging	Het
Eif2b5	G	T	16: 20,317,694 (GRCm39)	A11S	unknown	Het
Fsip2	C	T	2: 82,818,852 (GRCm39)	Q4862*	probably null	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hspg2	A	T	4: 137,281,093 (GRCm39)	D3355V	probably damaging	Het
Ift56	A	G	6: 38,389,005 (GRCm39)	Y430C	probably damaging	Het
Il16	G	A	7: 83,301,552 (GRCm39)	T190I	probably benign	Het
Immt	T	A	6: 71,840,180 (GRCm39)	V319D	probably benign	Het
Kdm2b	G	C	5: 123,018,359 (GRCm39)	S989W	probably damaging	Het
Kmt2e	A	G	5: 23,704,440 (GRCm39)	E1211G	possibly damaging	Het
Ktn1	G	T	14: 47,961,481 (GRCm39)	G1061*	probably null	Het
Mast3	T	C	8: 71,240,577 (GRCm39)	I287V	probably benign	Het
Mrgpre	T	A	7: 143,335,465 (GRCm39)	T13S	probably benign	Het
Myoc	C	T	1: 162,467,128 (GRCm39)	A99V	probably benign	Het
Or10a49	C	A	7: 108,467,895 (GRCm39)	M155I	probably benign	Het
Otulinl	T	A	15: 27,664,442 (GRCm39)	R109S	possibly damaging	Het
Per3	G	A	4: 151,096,907 (GRCm39)	P873S	probably benign	Het
Phykpl	A	C	11: 51,493,622 (GRCm39)	E453A	probably benign	Het
Pkd2l2	A	T	18: 34,563,826 (GRCm39)	I514L	probably benign	Het
Plcl2	G	T	17: 50,915,703 (GRCm39)	R904L	probably damaging	Het
Ptpn1	A	G	2: 167,813,668 (GRCm39)	D137G	probably benign	Het
Rasal3	G	A	17: 32,614,143 (GRCm39)	P571S	probably damaging	Het
Sdha	A	G	13: 74,475,044 (GRCm39)		probably null	Het
Tbc1d31	C	A	15: 57,805,954 (GRCm39)	Q439K	probably benign	Het
Ttc12	T	C	9: 49,364,633 (GRCm39)	D381G	possibly damaging	Het
Uaca	T	A	9: 60,776,885 (GRCm39)	M424K	probably benign	Het
Usp33	G	T	3: 152,080,320 (GRCm39)	A484S	probably damaging	Het
Usp9y	A	G	Y: 1,316,730 (GRCm39)	S1940P	probably damaging	Het
Zfp532	G	A	18: 65,777,421 (GRCm39)	V893I	probably benign	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
R5733:Frmd4a	UTSW	2	4,305,768 (GRCm39)	missense	possibly damaging	0.53
R5762:Frmd4a	UTSW	2	4,488,876 (GRCm39)	missense	probably damaging	1.00
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'- CTCTGGGACTTTGCATTACTAAAG -3'
(R):5'- TTAGAGCACCTCACATGGGC -3'

Sequencing Primer
(F):5'- GGGACTTTGCATTACTAAAGGAACAC -3'
(R):5'- GCCCAGGCACCTAGGAAG -3'

Posted On

2017-02-28