Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02269:Frmd4a'

287068

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: 0.119) question?

Stock #

IGL02269

Quality Score

Status

Chromosome

Chromosomal Location

4022528-4618854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4609045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 971 (M971T)

Ref Sequence

ENSEMBL: ENSMUSP00000089079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000176828] [ENSMUST00000177457]

AlphaFold

Q8BIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000075767
AA Change: M960T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: M960T

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
AA Change: M971T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: M971T

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: ENSMUST00000176828
AA Change: M666T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: M666T

Domain	Start	End	E-Value	Type
Pfam:DUF3338	46	183	4.1e-64	PFAM
low complexity region	264	277	N/A	INTRINSIC
low complexity region	316	329	N/A	INTRINSIC
low complexity region	438	447	N/A	INTRINSIC
low complexity region	470	491	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
low complexity region	630	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177457
AA Change: M975T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: M975T

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,425 (GRCm39)	V59A	unknown	Het
A2ml1	C	A	6: 128,530,301 (GRCm39)		probably benign	Het
Akap13	G	A	7: 75,252,659 (GRCm39)	R263H	probably benign	Het
B3galt5	A	G	16: 96,116,730 (GRCm39)	D121G	possibly damaging	Het
Becn1	A	G	11: 101,182,361 (GRCm39)		probably benign	Het
Carmil1	A	T	13: 24,339,393 (GRCm39)	L150*	probably null	Het
Cep170	A	T	1: 176,596,932 (GRCm39)	M475K	probably benign	Het
Cyp24a1	C	T	2: 170,338,492 (GRCm39)	G68D	probably damaging	Het
Cyp3a44	A	T	5: 145,742,547 (GRCm39)	I18N	probably benign	Het
Dmrt2	T	C	19: 25,655,823 (GRCm39)	V474A	probably benign	Het
Dtnb	A	G	12: 3,646,691 (GRCm39)	D64G	probably damaging	Het
Epb41l3	T	C	17: 69,554,568 (GRCm39)	S223P	probably damaging	Het
Ephb2	A	G	4: 136,498,360 (GRCm39)	Y240H	possibly damaging	Het
Extl3	T	C	14: 65,315,032 (GRCm39)	Y50C	probably damaging	Het
Fat3	A	C	9: 15,826,873 (GRCm39)	S4360A	possibly damaging	Het
Fbxo9	A	T	9: 77,994,835 (GRCm39)	V230E	probably damaging	Het
Gm7275	A	G	16: 47,894,185 (GRCm39)		noncoding transcript	Het
Hyal6	C	T	6: 24,740,858 (GRCm39)	T337I	probably damaging	Het
Obsl1	C	T	1: 75,464,357 (GRCm39)	V1650M	probably damaging	Het
Or1j13	A	T	2: 36,369,579 (GRCm39)	S188T	possibly damaging	Het
Or52z14	T	A	7: 103,253,089 (GRCm39)	I76N	probably damaging	Het
Or7e169	A	T	9: 19,757,024 (GRCm39)	I297N	possibly damaging	Het
Or8c8	A	T	9: 38,165,232 (GRCm39)	D173V	possibly damaging	Het
Pcdh7	A	C	5: 58,070,664 (GRCm39)	E1114A	probably damaging	Het
Pde8a	C	T	7: 80,958,550 (GRCm39)		probably benign	Het
Pdzrn4	A	T	15: 92,667,731 (GRCm39)	S628C	probably damaging	Het
Pear1	C	T	3: 87,663,571 (GRCm39)	G376S	probably damaging	Het
Plekha6	C	T	1: 133,215,587 (GRCm39)	T644M	possibly damaging	Het
Plpp1	T	A	13: 112,993,526 (GRCm39)	C153S	probably damaging	Het
Ptpn3	G	A	4: 57,197,510 (GRCm39)	T793M	possibly damaging	Het
Rdh13	A	T	7: 4,448,497 (GRCm39)	L5Q	possibly damaging	Het
Rimbp2	G	T	5: 128,851,359 (GRCm39)	D862E	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scamp1	C	T	13: 94,368,694 (GRCm39)		probably benign	Het
Scamp3	A	G	3: 89,088,041 (GRCm39)	T178A	probably benign	Het
Sh3tc1	A	G	5: 35,863,628 (GRCm39)	V853A	probably benign	Het
Snrnp200	C	T	2: 127,071,911 (GRCm39)	T1197M	possibly damaging	Het
Sult3a1	T	C	10: 33,755,259 (GRCm39)	F275L	probably benign	Het
Tenm4	A	T	7: 96,473,029 (GRCm39)	I905F	probably damaging	Het
Tgm3	T	A	2: 129,866,438 (GRCm39)	S119T	probably benign	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tmem45b	G	T	9: 31,339,279 (GRCm39)	C145*	probably null	Het
Unc5c	G	A	3: 141,494,743 (GRCm39)	R352H	probably damaging	Het
Vmn2r12	A	G	5: 109,234,343 (GRCm39)	L623P	probably damaging	Het
Vmn2r68	T	C	7: 84,870,947 (GRCm39)	M779V	possibly damaging	Het
Zfhx2	T	C	14: 55,309,393 (GRCm39)	N902S	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
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

2015-04-16