Mutagenetix > Incidental Mutations

Incidental Mutation 'R4384:Frmd4a'

326093

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

Gm13190, 2700017I06Rik, C230040M21Rik

MMRRC Submission

042002-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4017717-4614043 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 4594563 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 467 (R467*)

Ref Sequence

ENSEMBL: ENSMUSP00000134788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000175944] [ENSMUST00000176828] [ENSMUST00000176864] [ENSMUST00000177457]

Predicted Effect

probably null
Transcript: ENSMUST00000075767
AA Change: R452*

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: R452*

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 null
Transcript: ENSMUST00000091497
AA Change: R463*

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: R463*

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: ENSMUST00000153160

Predicted Effect

probably null
Transcript: ENSMUST00000175944
AA Change: R500*

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: R500*

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 null
Transcript: ENSMUST00000176828
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: R158*

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: ENSMUST00000176864

SMART Domains

Protein: ENSMUSP00000135057
Gene: ENSMUSG00000026657

Domain	Start	End	E-Value	Type
Pfam:DUF3338	35	150	2.6e-50	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000177457
AA Change: R467*

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: R467*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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
Acer2	T	A	4: 86,874,568	V27E	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,930,157	C132*	probably null	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Brip1	A	T	11: 86,148,429	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,988	Q654L	probably benign	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,748,460	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Ddias	G	A	7: 92,858,223	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Dscam	T	A	16: 96,709,216	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,919,393		probably benign	Het
E2f8	G	A	7: 48,867,099	T844I	possibly damaging	Het
Eps8	T	A	6: 137,499,592	H603L	probably benign	Het
Esrrg	G	A	1: 188,043,711	C122Y	probably damaging	Het
Gad2	G	A	2: 22,685,410	V509I	probably benign	Het
Gpat4	A	G	8: 23,174,586	I446T	probably benign	Het
Klhl12	T	G	1: 134,487,654	D435E	probably damaging	Het
Luc7l	T	C	17: 26,279,962		probably benign	Het
March2	C	A	17: 33,696,193	M142I	probably benign	Het
Marf1	T	A	16: 14,142,641	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,696,439	D114G	possibly damaging	Het
Med1	G	A	11: 98,152,862		probably benign	Het
Meikin	C	T	11: 54,417,787	Q404*	probably null	Het
Myh9	A	T	15: 77,791,712		probably benign	Het
Mylip	T	C	13: 45,389,958	M1T	probably null	Het
Ncapg2	T	C	12: 116,439,877		probably null	Het
Nmd3	T	C	3: 69,724,398		probably benign	Het
Nwd2	T	A	5: 63,806,571	L1166H	probably damaging	Het
Olfr341	A	G	2: 36,479,998	L44P	probably damaging	Het
Olfr912	T	C	9: 38,582,053	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,856,902	I71T	probably damaging	Het
Rwdd3	T	C	3: 121,158,757		probably benign	Het
Ryr2	T	C	13: 11,605,233	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,298,257	Q273R	probably benign	Het
Sdha	A	T	13: 74,326,985	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,702,883	L771P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,247,727	E624G	possibly damaging	Het
Tada3	G	T	6: 113,370,379	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,247,933	M130V	probably damaging	Het
Trpc1	C	A	9: 95,732,108	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,640,507	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,917,725	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,428,682	S80P	probably benign	Het
Usp54	A	T	14: 20,550,085		probably null	Het
Vmn2r27	A	G	6: 124,224,156	Y281H	probably benign	Het
Vwf	T	A	6: 125,655,116	I37N	unknown	Het
Zfp329	G	A	7: 12,811,657		probably benign	Het
Zfp616	G	T	11: 74,083,179	L91F	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
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
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
Z1176:Frmd4a	UTSW	2	4498021	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTAGCAACGGTTCTGACTTTC -3'
(R):5'- TCGATGACAAGTGAAGCCCTC -3'

Sequencing Primer
(F):5'- AGCAACGGTTCTGACTTTCCTCTAAG -3'
(R):5'- ACAAGTGAAGCCCTCTGGGTG -3'

Posted On

2015-07-06