Mutagenetix > Incidental Mutation

Incidental Mutation 'R1593:Frmd4a'

175597

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

Gm13190, 2700017I06Rik, C230040M21Rik

MMRRC Submission

039630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R1593 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4017717-4614043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4473188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 60 (Y60C)

Ref Sequence

ENSEMBL: ENSMUSP00000134788 (fasta)

Gene Model

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

AlphaFold

Q8BIE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000075767
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: Y45C

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: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: Y56C

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: ENSMUST00000115037
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110689
Gene: ENSMUSG00000026657
AA Change: Y45C

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 damaging
Transcript: ENSMUST00000175669
AA Change: Y75C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657
AA Change: Y75C

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 damaging
Transcript: ENSMUST00000175944
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: Y93C

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 damaging
Transcript: ENSMUST00000176803
AA Change: Y46C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135432
Gene: ENSMUSG00000026657
AA Change: Y46C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177457
AA Change: Y60C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: Y60C

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,481,755	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,323,308	D88G	probably damaging	Het
Adam1a	A	C	5: 121,519,643	I529S	probably benign	Het
Ap3b1	T	C	13: 94,501,927	V838A	unknown	Het
Arrdc2	T	C	8: 70,837,120	Y280C	probably damaging	Het
Atg10	T	C	13: 91,154,261	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,584	S699P	probably damaging	Het
Cdc23	C	A	18: 34,636,326	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,014,594	A431T	probably benign	Het
Cntn6	T	G	6: 104,832,580	H525Q	possibly damaging	Het
Ctr9	T	C	7: 111,042,853	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,036,172		probably null	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha6	A	T	16: 60,424,904	F311I	probably damaging	Het
Esrrg	A	T	1: 188,066,385	T150S	possibly damaging	Het
Exoc2	C	A	13: 30,856,761	R758L	possibly damaging	Het
Exosc7	G	C	9: 123,131,993	V242L	probably benign	Het
Fcho2	T	C	13: 98,784,807	D190G	possibly damaging	Het
Fgd6	T	C	10: 94,045,032	S583P	probably damaging	Het
Gldc	A	T	19: 30,113,750	I815N	probably damaging	Het
Grm2	A	T	9: 106,650,914	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,997,020	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,980,991	V207A	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Meis2	T	A	2: 116,000,264	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,478,854	R719G	probably null	Het
Olfr800	A	T	10: 129,660,225	R140*	probably null	Het
Pabpc6	A	T	17: 9,667,813	M603K	probably damaging	Het
Pcnx2	C	A	8: 125,759,273	R1862L	probably benign	Het
Pon2	T	C	6: 5,273,003	D122G	probably benign	Het
Ppig	T	A	2: 69,749,081	W378R	unknown	Het
Ralgapa1	T	A	12: 55,770,703	E389D	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rarg	A	G	15: 102,239,941	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,403,460	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,863,241	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,219,082	A198S	probably benign	Het
Spag9	A	G	11: 94,097,233	D441G	probably damaging	Het
Stxbp5l	A	G	16: 37,116,052	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,147,253	W146R	probably damaging	Het
Tmem8	T	A	17: 26,118,407	I399N	possibly damaging	Het
Tmod3	T	C	9: 75,511,163	D197G	probably benign	Het
Tpp2	A	G	1: 43,975,433	H644R	probably benign	Het
Trpm2	A	G	10: 77,943,076	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,362,701	K233E	probably damaging	Het
Vsir	A	G	10: 60,357,958	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,396,941	N487S	probably benign	Het
Zbtb20	A	G	16: 43,609,423	N99S	probably damaging	Het
Zfp583	C	T	7: 6,317,009	G335S	probably benign	Het
Zgrf1	T	A	3: 127,561,026	V98E	possibly damaging	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
R0130: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
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
R9074:Frmd4a	UTSW	2	4603954	missense	probably damaging	1.00
R9075:Frmd4a	UTSW	2	4603954	missense	probably damaging	1.00
R9076:Frmd4a	UTSW	2	4603954	missense	probably damaging	1.00
R9105:Frmd4a	UTSW	2	4535183	missense	probably damaging	0.96
R9213:Frmd4a	UTSW	2	4603561	missense	probably damaging	1.00
R9227:Frmd4a	UTSW	2	4608033	missense	possibly damaging	0.92
R9230:Frmd4a	UTSW	2	4608033	missense	possibly damaging	0.92
R9235:Frmd4a	UTSW	2	4594555	missense	probably damaging	0.99
R9266:Frmd4a	UTSW	2	4606035	missense	probably damaging	0.99
R9301:Frmd4a	UTSW	2	4153093	missense	probably benign	0.27
R9307:Frmd4a	UTSW	2	4604233	missense	probably benign
R9365:Frmd4a	UTSW	2	4602162	missense	probably benign	0.01
R9476:Frmd4a	UTSW	2	4603513	missense	probably benign	0.32
R9484:Frmd4a	UTSW	2	4604215	missense	possibly damaging	0.49
R9510:Frmd4a	UTSW	2	4603513	missense	probably benign	0.32
R9513:Frmd4a	UTSW	2	4603900	missense	probably damaging	0.99
Z1176:Frmd4a	UTSW	2	4498021	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGCTGCCAAGACTTCCCAC -3'
(R):5'- TGAACTTGGACTGACCCTGTAGCC -3'

Sequencing Primer
(F):5'- tgaactcctgctcctcctg -3'
(R):5'- TTTGCTGTGCACAGCAGA -3'

Posted On

2014-04-24