Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03308:Frmd4a'

416441

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 #

IGL03308

Quality Score

Status

Chromosome

Chromosomal Location

4022528-4618854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4502837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 98 (A98S)

Ref Sequence

ENSEMBL: ENSMUSP00000075172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000115037] [ENSMUST00000175669] [ENSMUST00000177457] [ENSMUST00000176803] [ENSMUST00000175944]

AlphaFold

Q8BIE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075767
AA Change: A98S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: A98S

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

possibly damaging
Transcript: ENSMUST00000091497
AA Change: A109S

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: A109S

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

probably benign
Transcript: ENSMUST00000115037
AA Change: A98S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110689
Gene: ENSMUSG00000026657
AA Change: A98S

Domain	Start	End	E-Value	Type
B41	1	142	9.86e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147156

Predicted Effect

probably benign
Transcript: ENSMUST00000175669
AA Change: A128S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657
AA Change: A128S

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: ENSMUST00000177457
AA Change: A113S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: A113S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176803
AA Change: A99S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000135432
Gene: ENSMUSG00000026657
AA Change: A99S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175944
AA Change: A146S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: A146S

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,821 (GRCm39)	I216V	probably damaging	Het
Abcc1	A	G	16: 14,288,475 (GRCm39)	I1367V	possibly damaging	Het
Ap1g2	T	A	14: 55,342,333 (GRCm39)	I175F	probably benign	Het
Atad2	A	G	15: 57,965,919 (GRCm39)	V671A	probably benign	Het
Ccdc134	A	G	15: 82,015,721 (GRCm39)	D67G	probably damaging	Het
Cdk17	G	A	10: 93,057,506 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,369,777 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,719,675 (GRCm39)	L228P	unknown	Het
Eef1a2	A	G	2: 180,790,629 (GRCm39)		probably benign	Het
Fars2	T	G	13: 36,388,670 (GRCm39)	I53R	possibly damaging	Het
Gprin1	T	A	13: 54,887,957 (GRCm39)	M106L	probably benign	Het
Hspb8	T	C	5: 116,547,401 (GRCm39)	T194A	possibly damaging	Het
Ift27	A	G	15: 78,050,215 (GRCm39)	S65P	probably damaging	Het
Inpp5d	A	C	1: 87,630,919 (GRCm39)	Y430S	probably damaging	Het
Kat6b	T	C	14: 21,674,902 (GRCm39)	S356P	probably damaging	Het
Limch1	C	T	5: 67,159,901 (GRCm39)	T443M	possibly damaging	Het
Mcf2l	C	T	8: 13,059,512 (GRCm39)	R708C	probably damaging	Het
Mlf1	T	C	3: 67,305,140 (GRCm39)	W214R	probably damaging	Het
Naga	A	T	15: 82,220,088 (GRCm39)	L153Q	probably damaging	Het
Nbas	A	G	12: 13,374,349 (GRCm39)	Q559R	possibly damaging	Het
Or2ab1	T	C	11: 58,488,525 (GRCm39)	F101S	probably damaging	Het
Or2t6	T	A	14: 14,175,161 (GRCm38)	H307L	probably benign	Het
Prex2	A	G	1: 11,255,399 (GRCm39)	D1148G	possibly damaging	Het
Prss23	A	C	7: 89,158,938 (GRCm39)	L377R	probably benign	Het
Ptprc	G	T	1: 138,054,058 (GRCm39)	T27K	possibly damaging	Het
Rnf213	A	G	11: 119,364,998 (GRCm39)	T4553A	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Skint3	T	C	4: 112,111,264 (GRCm39)	F130L	probably damaging	Het
Slc8a1	A	G	17: 81,749,624 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,792,240 (GRCm39)	N433D	probably damaging	Het
Tapbpl	G	A	6: 125,205,142 (GRCm39)	A268V	possibly damaging	Het
Tmem131l	T	C	3: 83,848,209 (GRCm39)	I314V	probably benign	Het
Tmem44	A	G	16: 30,362,566 (GRCm39)	W151R	probably damaging	Het
Tnnc1	T	C	14: 30,931,798 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,461 (GRCm39)	N530T	probably damaging	Het
Ttn	A	G	2: 76,576,907 (GRCm39)	I24662T	probably damaging	Het
Vmn1r49	A	T	6: 90,049,341 (GRCm39)	H220Q	possibly damaging	Het
Vmn2r106	A	T	17: 20,498,785 (GRCm39)	C375*	probably null	Het
Vps26b	T	C	9: 26,940,796 (GRCm39)	Y41C	probably damaging	Het
Wdr64	T	C	1: 175,594,562 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,236,978 (GRCm39)	Q576*	probably null	Het
Zfp106	T	C	2: 120,354,505 (GRCm39)	D1422G	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
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

2016-08-02