Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01774:Frmd4a'

154058

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

2700017I06Rik, C230040M21Rik, Gm13190

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

4022528-4618854 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 4540047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000175669] [ENSMUST00000175944] [ENSMUST00000176803] [ENSMUST00000177457]

AlphaFold

Q8BIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000075767

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657

Domain	Start	End	E-Value	Type
B41	1	206	3.24e-40	SMART
FERM_C	210	311	7.69e-27	SMART
Pfam:DUF3338	340	477	1.9e-63	PFAM
low complexity region	558	571	N/A	INTRINSIC
low complexity region	610	623	N/A	INTRINSIC
low complexity region	732	741	N/A	INTRINSIC
low complexity region	764	785	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC
low complexity region	924	947	N/A	INTRINSIC

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: ENSMUST00000115039

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

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,077,058 (GRCm39)	D708G	probably damaging	Het
Abca16	T	C	7: 120,021,024 (GRCm39)		probably benign	Het
Abcc5	T	C	16: 20,197,207 (GRCm39)	D674G	probably damaging	Het
Abr	A	G	11: 76,355,125 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,619,363 (GRCm39)	I4T	possibly damaging	Het
Btla	A	G	16: 45,070,911 (GRCm39)	N290S	possibly damaging	Het
Catip	C	A	1: 74,407,642 (GRCm39)	R325S	probably damaging	Het
Cep120	A	G	18: 53,839,902 (GRCm39)	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,006,133 (GRCm39)	I221V	probably benign	Het
Eloc	A	T	1: 16,716,013 (GRCm39)	D37E	probably benign	Het
Fabp12	A	C	3: 10,312,754 (GRCm39)	N89K	probably benign	Het
Ficd	G	T	5: 113,877,073 (GRCm39)	R416L	probably damaging	Het
Frmd3	T	C	4: 74,106,075 (GRCm39)	Y574H	probably damaging	Het
Gatc	G	A	5: 115,479,076 (GRCm39)	Q45*	probably null	Het
Gm5414	T	C	15: 101,535,410 (GRCm39)	D225G	probably benign	Het
Itpkc	G	T	7: 26,911,795 (GRCm39)	A592E	probably benign	Het
Kl	G	T	5: 150,911,948 (GRCm39)	V566L	probably benign	Het
Lpin1	T	A	12: 16,608,477 (GRCm39)	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,692,880 (GRCm39)	Y483C	probably damaging	Het
Neb	C	T	2: 52,112,982 (GRCm39)	W67*	probably null	Het
Nrarp	T	C	2: 25,071,298 (GRCm39)	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or52n20	T	C	7: 104,320,149 (GRCm39)	I80T	probably benign	Het
Pacs2	T	A	12: 113,020,462 (GRCm39)	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,276 (GRCm39)	K420R	probably benign	Het
Rag2	A	G	2: 101,460,392 (GRCm39)	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,440,554 (GRCm39)	Q88*	probably null	Het
Rictor	T	C	15: 6,799,258 (GRCm39)	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,871,339 (GRCm39)	Q276*	probably null	Het
Tas2r134	C	T	2: 51,518,160 (GRCm39)	T213I	probably benign	Het
Tecpr1	A	G	5: 144,148,358 (GRCm39)	I349T	probably damaging	Het
Tnxb	T	C	17: 34,907,813 (GRCm39)	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,513,113 (GRCm39)	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,889 (GRCm39)	I229L	probably benign	Het
Vnn1	T	C	10: 23,776,608 (GRCm39)	Y320H	probably benign	Het
Zfp990	T	C	4: 145,263,518 (GRCm39)	V172A	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
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
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

Posted On

2014-02-04