Mutagenetix > Incidental Mutation

Incidental Mutation 'R9365:Frmd4a'

708879

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

Gm13190, 2700017I06Rik, C230040M21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R9365 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4017717-4614043 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4602162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 646 (V646A)

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: V635A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: V635A

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: V646A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: V646A

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: V341A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: V341A

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: V650A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: V650A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Ahi1	G	A	10: 20,972,136	R481Q	probably damaging	Het
Arhgef3	T	C	14: 27,379,598	I77T	probably damaging	Het
Ash1l	T	A	3: 88,981,900	V362E	possibly damaging	Het
Bcat2	T	A	7: 45,575,870	F57L	probably damaging	Het
Ccdc73	C	T	2: 104,907,666	L36F	probably damaging	Het
Ccl19	C	T	4: 42,756,288	V15I	probably benign	Het
Cenpe	T	A	3: 135,248,446	V1688E	possibly damaging	Het
Ces1a	A	T	8: 93,048,099	F4I	probably benign	Het
Chchd6	G	A	6: 89,574,431	P83S	probably benign	Het
Cnr1	T	C	4: 33,943,798	M62T	probably benign	Het
Colec12	T	C	18: 9,848,146	L108P	probably damaging	Het
Dhrs4	C	T	14: 55,487,319	T181I	probably benign	Het
Disc1	T	C	8: 125,124,546	S392P	probably benign	Het
Dnah3	A	G	7: 119,967,636	F69L		Het
Ehmt1	T	C	2: 24,838,710	D726G	probably damaging	Het
Epg5	T	A	18: 77,954,742	L462I	probably damaging	Het
Exoc2	A	T	13: 30,856,714	S774T	probably benign	Het
Fam135b	A	G	15: 71,462,964	S794P	probably benign	Het
Gm3543	G	T	14: 41,982,136	D57E	possibly damaging	Het
Golgb1	T	A	16: 36,915,762	D1831E	probably damaging	Het
Hace1	T	G	10: 45,709,996		probably null	Het
Irgc1	T	C	7: 24,432,447	E315G	possibly damaging	Het
Ism1	A	G	2: 139,740,401	Y211C	probably damaging	Het
Kpna1	T	G	16: 36,012,917	V121G	probably damaging	Het
Lifr	T	A	15: 7,169,040	F250L	probably damaging	Het
Llgl2	A	G	11: 115,849,581	T368A	probably benign	Het
Lmln	T	A	16: 33,104,799	C467*	probably null	Het
Lrrtm3	T	C	10: 64,088,164	E408G	probably benign	Het
Melk	C	T	4: 44,340,693	A330V	probably null	Het
Mmp13	T	G	9: 7,277,921	D271E	probably benign	Het
Myh11	T	C	16: 14,234,433	T390A		Het
Myh8	A	G	11: 67,283,806	K249R	probably benign	Het
Nr1h4	T	A	10: 89,483,453	M184L	probably damaging	Het
Obscn	T	A	11: 58,994,511		probably null	Het
Otog	T	G	7: 46,271,264	C964G	probably damaging	Het
Oxct2b	T	C	4: 123,116,796	S170P	probably benign	Het
Pcdha4	T	C	18: 36,954,059	S432P	possibly damaging	Het
Prb1	T	A	6: 132,207,238	R477S	unknown	Het
Prh1	G	A	6: 132,572,145	G205D	unknown	Het
Psg23	C	T	7: 18,610,468	G354D	probably damaging	Het
Pura	T	G	18: 36,287,860	D233E	possibly damaging	Het
Rb1cc1	G	T	1: 6,244,893	L423F	probably damaging	Het
Rimbp3	T	C	16: 17,208,756	S15P	possibly damaging	Het
Scn1a	A	G	2: 66,318,121	F7L	probably benign	Het
Sftpb	A	T	6: 72,307,205	R203*	probably null	Het
Slc30a9	A	G	5: 67,349,799	K478R	probably damaging	Het
Slc35f5	T	A	1: 125,568,596	M156K	probably benign	Het
Slc41a3	A	G	6: 90,635,345	I232V	probably benign	Het
Slit2	A	G	5: 48,304,192	D1527G	probably benign	Het
Srfbp1	T	G	18: 52,490,468	V389G	possibly damaging	Het
Sun2	C	T	15: 79,738,519		probably null	Het
Tep1	G	T	14: 50,827,140	A2386D	probably damaging	Het
Tex15	T	A	8: 33,574,536	S1331R	possibly damaging	Het
Tgm1	A	T	14: 55,704,892	N667K	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tsen54	T	C	11: 115,822,584	F438L	probably damaging	Het
Ube4a	T	C	9: 44,950,893	H150R	probably benign	Het
Uty	T	C	Y: 1,099,712	N1161S	possibly damaging	Het
Vmn2r16	T	A	5: 109,340,198	D312E	probably damaging	Het
Wdr55	T	G	18: 36,760,301	C5W	probably damaging	Het
Zbtb24	C	A	10: 41,456,544	P405Q	probably damaging	Het
Zkscan2	T	A	7: 123,480,368	I789F	probably 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
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
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'- TGCTTAACTTCGAGGAGTGGAG -3'
(R):5'- AGCCAATGATGTCTTACTACACC -3'

Sequencing Primer
(F):5'- TGGGATAGTGAGAGCTGGAGTCC -3'
(R):5'- CAATGATGTCTTACTACACCAGGGTC -3'

Posted On

2022-04-18