Mutagenetix > Incidental Mutations

Incidental Mutation 'R0130:Frmd4a'

50093

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

Gm13190, 2700017I06Rik, C230040M21Rik

MMRRC Submission

038415-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R0130 (G1)

Quality Score

167

Status

Validated (trace)

Chromosome

Chromosomal Location

4017717-4614043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4604092 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 928 (Y928H)

Ref Sequence

ENSEMBL: ENSMUSP00000134788 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075767
AA Change: Y913H

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: Y913H

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 damaging
Transcript: ENSMUST00000091497
AA Change: Y924H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: Y924H

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 damaging
Transcript: ENSMUST00000176828
AA Change: Y619H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: Y619H

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 damaging
Transcript: ENSMUST00000177457
AA Change: Y928H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: Y928H

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

Meta Mutation Damage Score

0.1996

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,686,666	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Apol7c	A	G	15: 77,526,362	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Arfip2	A	G	7: 105,638,998		probably benign	Het
Atp5j2	A	T	5: 145,188,182		probably benign	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
Cd22	A	G	7: 30,869,964	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,069,962	T613A	probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Cenpc1	A	T	5: 86,046,546	D120E	probably benign	Het
Chd3	T	A	11: 69,359,830	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,921,913	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dync1h1	C	A	12: 110,618,674	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,881,732		probably benign	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Fat2	T	A	11: 55,252,118	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Gde1	A	T	7: 118,695,060	F63L	probably benign	Het
Gjc3	A	G	5: 137,957,940	S28P	probably benign	Het
Gm10250	G	A	15: 5,120,991		probably null	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k11	T	C	19: 5,690,815	L190P	probably damaging	Het
Mki67	T	A	7: 135,696,459	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,309,008	I272F	probably damaging	Het
Myom1	A	T	17: 71,045,755	D358V	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Nebl	T	C	2: 17,390,926		probably benign	Het
Nlrp2	T	A	7: 5,322,418	N14Y	possibly damaging	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr304	T	C	7: 86,386,306	Y118C	probably damaging	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pld2	T	G	11: 70,554,348	N591K	probably benign	Het
Plekha7	A	G	7: 116,170,704	M276T	probably damaging	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Prtg	A	G	9: 72,809,716	Y113C	probably damaging	Het
Rab38	T	A	7: 88,450,541	I88N	probably damaging	Het
Rbfox2	A	G	15: 77,091,857		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,156,407	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,471,448	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Tectb	G	T	19: 55,181,961	K81N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Tiam1	T	C	16: 89,897,754	M272V	probably benign	Het
Trav13-3	T	A	14: 53,729,776		noncoding transcript	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het

Other mutations in Frmd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Frmd4a	APN	2	4594714	missense	probably benign	0.00
IGL00508:Frmd4a	APN	2	4594734	nonsense	probably null
IGL01331:Frmd4a	APN	2	4602225	missense	probably benign	0.32
IGL01774:Frmd4a	APN	2	4535236	splice site	probably benign
IGL01909:Frmd4a	APN	2	4604033	missense	probably benign	0.11
IGL02170:Frmd4a	APN	2	4566177	missense	probably damaging	0.99
IGL02269:Frmd4a	APN	2	4604234	missense	probably benign	0.19
IGL02377:Frmd4a	APN	2	4534574	missense	possibly damaging	0.47
IGL03308:Frmd4a	APN	2	4498026	missense	possibly damaging	0.95
R0066:Frmd4a	UTSW	2	4473152	missense	probably damaging	1.00
R0066:Frmd4a	UTSW	2	4473152	missense	probably damaging	1.00
R0081:Frmd4a	UTSW	2	4572441	critical splice donor site	probably null
R0128:Frmd4a	UTSW	2	4604092	missense	probably damaging	0.98
R0376:Frmd4a	UTSW	2	4572387	missense	probably damaging	0.97
R0529:Frmd4a	UTSW	2	4606023	missense	probably damaging	1.00
R0549:Frmd4a	UTSW	2	4603967	missense	possibly damaging	0.76
R1593:Frmd4a	UTSW	2	4473188	missense	probably damaging	1.00
R1959:Frmd4a	UTSW	2	4535186	missense	probably damaging	1.00
R2002:Frmd4a	UTSW	2	4572365	missense	probably damaging	1.00
R2100:Frmd4a	UTSW	2	4606023	missense	probably damaging	1.00
R2310:Frmd4a	UTSW	2	4572399	frame shift	probably null
R2340:Frmd4a	UTSW	2	4586376	missense	probably damaging	1.00
R2426:Frmd4a	UTSW	2	4529862	missense	probably damaging	1.00
R2680:Frmd4a	UTSW	2	4534553	missense	probably damaging	1.00
R3409:Frmd4a	UTSW	2	4153028	intron	probably benign
R3772:Frmd4a	UTSW	2	4590622	missense	probably damaging	0.99
R3773:Frmd4a	UTSW	2	4590622	missense	probably damaging	0.99
R3932:Frmd4a	UTSW	2	4537260	missense	probably damaging	1.00
R4094:Frmd4a	UTSW	2	4611032	missense	probably damaging	1.00
R4226:Frmd4a	UTSW	2	4333078	missense	probably benign	0.00
R4299:Frmd4a	UTSW	2	4333071	missense	probably benign	0.02
R4304:Frmd4a	UTSW	2	4333078	missense	probably benign	0.00
R4306:Frmd4a	UTSW	2	4333078	missense	probably benign	0.00
R4307:Frmd4a	UTSW	2	4333078	missense	probably benign	0.00
R4346:Frmd4a	UTSW	2	4608033	missense	possibly damaging	0.92
R4360:Frmd4a	UTSW	2	4601241	missense	probably damaging	1.00
R4384:Frmd4a	UTSW	2	4594563	nonsense	probably null
R4547:Frmd4a	UTSW	2	4473145	missense	probably damaging	1.00
R4575:Frmd4a	UTSW	2	4603679	missense	possibly damaging	0.83
R4577:Frmd4a	UTSW	2	4603679	missense	possibly damaging	0.83
R4578:Frmd4a	UTSW	2	4603679	missense	possibly damaging	0.83
R4688:Frmd4a	UTSW	2	4537311	missense	possibly damaging	0.81
R4764:Frmd4a	UTSW	2	4603448	missense	probably damaging	1.00
R4826:Frmd4a	UTSW	2	4601297	missense	probably damaging	1.00
R4879:Frmd4a	UTSW	2	4529817	missense	probably damaging	1.00
R5053:Frmd4a	UTSW	2	4603921	missense	probably damaging	1.00
R5392:Frmd4a	UTSW	2	4594573	missense	probably damaging	1.00
R5733:Frmd4a	UTSW	2	4300957	missense	possibly damaging	0.53
R5762:Frmd4a	UTSW	2	4484065	missense	probably damaging	1.00
R5920:Frmd4a	UTSW	2	4333116	missense	probably benign	0.02
R5932:Frmd4a	UTSW	2	4529839	missense	probably damaging	1.00
R6117:Frmd4a	UTSW	2	4602249	missense	possibly damaging	0.66
R6328:Frmd4a	UTSW	2	4590698	missense	probably damaging	0.99
R6622:Frmd4a	UTSW	2	4606062	missense	probably benign	0.00
R6903:Frmd4a	UTSW	2	4586456	missense	probably damaging	1.00
R7065:Frmd4a	UTSW	2	4566112
R7098:Frmd4a	UTSW	2	4572433	missense	probably damaging	1.00
R7258:Frmd4a	UTSW	2	4300953	missense	probably benign
R7336:Frmd4a	UTSW	2	4473214	missense	possibly damaging	0.92
R7582:Frmd4a	UTSW	2	4594597	frame shift	probably null
R7607:Frmd4a	UTSW	2	4591936	nonsense	probably null
R7697:Frmd4a	UTSW	2	4484081	missense	probably damaging	1.00
R7750:Frmd4a	UTSW	2	4601349	missense	probably benign	0.14
R7795:Frmd4a	UTSW	2	4590695	missense	probably damaging	1.00
R7848:Frmd4a	UTSW	2	4591917	intron	probably benign
R7899:Frmd4a	UTSW	2	4604089	missense	probably damaging	1.00
R8024:Frmd4a	UTSW	2	4603702	missense	probably damaging	1.00
R8399:Frmd4a	UTSW	2	4572433	missense	probably damaging	1.00
R8778:Frmd4a	UTSW	2	4473215	missense	probably damaging	1.00
R8876:Frmd4a	UTSW	2	4601300	missense	probably damaging	0.99
Z1176:Frmd4a	UTSW	2	4498021	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGTCAAAGCGCAGTTTAAGACC -3'
(R):5'- GGCTTCCCACATTTCACAGCAAGG -3'

Sequencing Primer
(F):5'- GCAGTTTAAGACCTCCAACTCTTAC -3'
(R):5'- GGCCTCCAGAATAAGTGACTC -3'

Posted On

2013-06-12