Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Frmd4a'

323457

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

Gm13190, 2700017I06Rik, C230040M21Rik

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4017717-4614043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4333071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 29 (N29K)

Ref Sequence

ENSEMBL: ENSMUSP00000135686 (fasta)

Gene Model

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

AlphaFold

Q8BIE6

Predicted Effect

probably benign
Transcript: ENSMUST00000091497

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657

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: ENSMUST00000147156

Predicted Effect

probably benign
Transcript: ENSMUST00000175669

SMART Domains

Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657

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: ENSMUST00000175944
AA Change: N29K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: N29K

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 benign
Transcript: ENSMUST00000176803

SMART Domains

Protein: ENSMUSP00000135432
Gene: ENSMUSG00000026657

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177457

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657

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

0.0730

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,487,526	R208G	possibly damaging	Het
Abcc12	T	C	8: 86,531,525		probably null	Het
Akna	A	T	4: 63,398,032	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,313,378	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,283,724	Y47*	probably null	Het
AW551984	T	C	9: 39,592,979	T564A	probably benign	Het
BC048403	C	A	10: 121,745,446	H117Q	probably benign	Het
C4b	T	C	17: 34,731,144	D1384G	possibly damaging	Het
C87499	T	C	4: 88,628,182	K137E	probably damaging	Het
Cbfa2t2	G	A	2: 154,523,928	V353I	probably damaging	Het
Cdh7	T	C	1: 110,061,001	I211T	probably damaging	Het
Cep170b	T	C	12: 112,739,305	S1166P	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	G	A	16: 22,805,411	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,183,928	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,573,677	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,819,925	T3645A	probably damaging	Het
Dolk	A	T	2: 30,285,188	W282R	probably damaging	Het
Dsg2	T	A	18: 20,595,951		probably null	Het
Dysf	A	G	6: 84,068,077	T297A	possibly damaging	Het
Flt1	G	T	5: 147,683,907	D142E	probably benign	Het
Fxyd7	A	T	7: 31,044,982	M36K	probably benign	Het
Gabbr1	C	T	17: 37,055,900	R178*	probably null	Het
Gm14139	G	A	2: 150,190,733	D17N	probably damaging	Het
Gnal	C	G	18: 67,088,583	P19R	unknown	Het
Gprc5b	G	A	7: 118,984,214	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 87,300,707	I194N	probably damaging	Het
Klhl24	T	C	16: 20,107,004	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,464,914	I133N	probably damaging	Het
Macf1	A	G	4: 123,399,406	I5381T	probably damaging	Het
Madd	A	G	2: 91,169,803	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,257,449	T296M	probably damaging	Het
Micall2	T	C	5: 139,709,471		probably benign	Het
Myh9	T	C	15: 77,769,964	T1214A	probably benign	Het
Ncapd3	A	G	9: 27,052,327	N492S	probably benign	Het
Neurl4	A	C	11: 69,909,061	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,250,599		probably null	Het
Olfr1052	A	T	2: 86,298,241	I142F	possibly damaging	Het
Olfr27	T	C	9: 39,144,999	S300P	probably benign	Het
Olfr380	A	T	11: 73,454,001	D70E	probably damaging	Het
Olfr421-ps1	T	A	1: 174,152,312	Y265*	probably null	Het
Olfr53	T	C	7: 140,652,243	V88A	probably benign	Het
Olfr67	T	A	7: 103,787,995	H94L	probably benign	Het
Olfr901	T	G	9: 38,430,812	Y177D	probably damaging	Het
Olfr933	T	A	9: 38,975,759	F28I	probably damaging	Het
Patj	C	A	4: 98,677,321	N1090K	possibly damaging	Het
Pde8a	A	G	7: 81,328,035	D692G	probably benign	Het
Ppa2	G	T	3: 133,367,842	K220N	probably damaging	Het
Rad54b	A	G	4: 11,597,865	H250R	probably damaging	Het
Reln	A	C	5: 21,920,487	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,383,753	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 58,893,523		noncoding transcript	Het
Scn11a	T	G	9: 119,765,506	I1274L	probably damaging	Het
Sco1	A	T	11: 67,055,800	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,796,640		probably null	Het
Smc2	C	T	4: 52,440,238		probably benign	Het
Spata18	T	C	5: 73,666,902	I156T	probably benign	Het
St3gal2	T	C	8: 110,962,359	M177T	probably benign	Het
Stt3a	A	G	9: 36,763,344	F48L	probably damaging	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Szt2	A	G	4: 118,365,406		probably benign	Het
Telo2	A	T	17: 25,115,256	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,252,095	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,140,817		probably null	Het
Vmn1r234	A	T	17: 21,229,021	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,091,964	M244I	probably benign	Het
Wdfy2	T	A	14: 62,925,140	L97*	probably null	Het
Wdr63	C	T	3: 146,068,806	D429N	probably damaging	Het
Xrcc5	T	C	1: 72,394,720	*733Q	probably null	Het
Zadh2	A	T	18: 84,094,501	I101F	possibly damaging	Het
Zfp516	G	A	18: 82,987,497	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,155,162		probably null	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
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'- ACTCTGGGACTTTGCATTACTAAAG -3'
(R):5'- TTAGAGCACCTCACATGGGC -3'

Sequencing Primer
(F):5'- GGGACTTTGCATTACTAAAGGAACAC -3'
(R):5'- GGTTATCCAGATCCTAATTGATGGC -3'

Posted On

2015-06-20