Mutagenetix > Incidental Mutation

Incidental Mutation 'R2340:Frmd4a'

246696

Institutional Source

Beutler Lab

Gene Symbol

Frmd4a

Ensembl Gene

ENSMUSG00000026657

Gene Name

FERM domain containing 4A

Synonyms

2700017I06Rik, C230040M21Rik, Gm13190

MMRRC Submission

040326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R2340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4022528-4618854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4591187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 69 (D69G)

Ref Sequence

ENSEMBL: ENSMUSP00000134803 (fasta)

Gene Model

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

AlphaFold

Q8BIE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000075767
AA Change: D363G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: D363G

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: D374G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: D374G

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: ENSMUST00000137801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153160

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175944
AA Change: D411G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: D411G

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

possibly damaging
Transcript: ENSMUST00000176864
AA Change: D58G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135057
Gene: ENSMUSG00000026657
AA Change: D58G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177457
AA Change: D378G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: D378G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176828
AA Change: D69G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: D69G

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

Meta Mutation Damage Score

0.3094

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (37/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca13	A	T	11: 9,349,165 (GRCm39)	I3580F	probably damaging	Het
B3glct	A	G	5: 149,668,905 (GRCm39)	K280E	probably benign	Het
Chd6	TG	T	2: 160,807,679 (GRCm39)		probably null	Het
Clu	T	C	14: 66,218,358 (GRCm39)	V406A	probably damaging	Het
D930020B18Rik	A	G	10: 121,490,741 (GRCm39)	K114E	probably damaging	Het
Dsg1c	T	A	18: 20,400,945 (GRCm39)	D149E	probably damaging	Het
Entrep2	A	G	7: 64,425,565 (GRCm39)	S176P	probably benign	Het
Fat2	A	T	11: 55,160,922 (GRCm39)	D3269E	possibly damaging	Het
Hacd1	G	T	2: 14,040,698 (GRCm39)	P186T	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Kif2c	A	G	4: 117,027,038 (GRCm39)	V320A	probably damaging	Het
Lypd2	T	A	15: 74,606,103 (GRCm39)	I12L	probably benign	Het
Midn	G	T	10: 79,985,946 (GRCm39)	R12L	possibly damaging	Het
Or2b6	T	C	13: 21,822,757 (GRCm39)	K312R	probably benign	Het
Or8g34	A	G	9: 39,373,105 (GRCm39)	Y126C	probably damaging	Het
Or9q2	A	G	19: 13,772,135 (GRCm39)	V280A	probably benign	Het
Pkhd1	A	T	1: 20,271,079 (GRCm39)	V3158E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rad51d	T	C	11: 82,772,647 (GRCm39)	D206G	probably damaging	Het
Rcan1	A	G	16: 92,194,240 (GRCm39)	F58L	probably damaging	Het
Rnf145	T	C	11: 44,422,205 (GRCm39)	I96T	probably benign	Het
Rnf216	A	T	5: 143,066,089 (GRCm39)	F500I	probably damaging	Het
Rph3al	T	C	11: 75,724,258 (GRCm39)	T282A	probably benign	Het
Serpina11	T	C	12: 103,951,002 (GRCm39)	R240G	probably benign	Het
Slc12a2	T	A	18: 58,033,122 (GRCm39)	I400N	probably benign	Het
Slco1a4	C	A	6: 141,787,103 (GRCm39)	C28F	probably benign	Het
Sned1	T	A	1: 93,184,174 (GRCm39)	I134N	probably damaging	Het
Spock3	T	A	8: 63,798,747 (GRCm39)	M253K	probably damaging	Het
Tmem184b	T	A	15: 79,262,732 (GRCm39)	M42L	probably benign	Het
Tnnt1	G	A	7: 4,516,615 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,938,922 (GRCm39)	S407T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zfat	T	C	15: 67,973,390 (GRCm39)	E1117G	probably damaging	Het
Zfp606	A	G	7: 12,227,016 (GRCm39)	E321G	possibly damaging	Het

Other mutations in Frmd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Frmd4a	APN	2	4,599,525 (GRCm39)	missense	probably benign	0.00
IGL00508:Frmd4a	APN	2	4,599,545 (GRCm39)	nonsense	probably null
IGL01331:Frmd4a	APN	2	4,607,036 (GRCm39)	missense	probably benign	0.32
IGL01774:Frmd4a	APN	2	4,540,047 (GRCm39)	splice site	probably benign
IGL01909:Frmd4a	APN	2	4,608,844 (GRCm39)	missense	probably benign	0.11
IGL02170:Frmd4a	APN	2	4,570,988 (GRCm39)	missense	probably damaging	0.99
IGL02269:Frmd4a	APN	2	4,609,045 (GRCm39)	missense	probably benign	0.19
IGL02377:Frmd4a	APN	2	4,539,385 (GRCm39)	missense	possibly damaging	0.47
IGL03308:Frmd4a	APN	2	4,502,837 (GRCm39)	missense	possibly damaging	0.95
R0066:Frmd4a	UTSW	2	4,477,963 (GRCm39)	missense	probably damaging	1.00
R0066:Frmd4a	UTSW	2	4,477,963 (GRCm39)	missense	probably damaging	1.00
R0081:Frmd4a	UTSW	2	4,577,252 (GRCm39)	critical splice donor site	probably null
R0128:Frmd4a	UTSW	2	4,608,903 (GRCm39)	missense	probably damaging	0.98
R0130:Frmd4a	UTSW	2	4,608,903 (GRCm39)	missense	probably damaging	0.98
R0376:Frmd4a	UTSW	2	4,577,198 (GRCm39)	missense	probably damaging	0.97
R0529:Frmd4a	UTSW	2	4,610,834 (GRCm39)	missense	probably damaging	1.00
R0549:Frmd4a	UTSW	2	4,608,778 (GRCm39)	missense	possibly damaging	0.76
R1593:Frmd4a	UTSW	2	4,477,999 (GRCm39)	missense	probably damaging	1.00
R1959:Frmd4a	UTSW	2	4,539,997 (GRCm39)	missense	probably damaging	1.00
R2002:Frmd4a	UTSW	2	4,577,176 (GRCm39)	missense	probably damaging	1.00
R2100:Frmd4a	UTSW	2	4,610,834 (GRCm39)	missense	probably damaging	1.00
R2310:Frmd4a	UTSW	2	4,577,210 (GRCm39)	frame shift	probably null
R2426:Frmd4a	UTSW	2	4,534,673 (GRCm39)	missense	probably damaging	1.00
R2680:Frmd4a	UTSW	2	4,539,364 (GRCm39)	missense	probably damaging	1.00
R3409:Frmd4a	UTSW	2	4,157,839 (GRCm39)	intron	probably benign
R3772:Frmd4a	UTSW	2	4,595,433 (GRCm39)	missense	probably damaging	0.99
R3773:Frmd4a	UTSW	2	4,595,433 (GRCm39)	missense	probably damaging	0.99
R3932:Frmd4a	UTSW	2	4,542,071 (GRCm39)	missense	probably damaging	1.00
R4094:Frmd4a	UTSW	2	4,615,843 (GRCm39)	missense	probably damaging	1.00
R4226:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4299:Frmd4a	UTSW	2	4,337,882 (GRCm39)	missense	probably benign	0.02
R4304:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4306:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4307:Frmd4a	UTSW	2	4,337,889 (GRCm39)	missense	probably benign	0.00
R4346:Frmd4a	UTSW	2	4,612,844 (GRCm39)	missense	possibly damaging	0.92
R4360:Frmd4a	UTSW	2	4,606,052 (GRCm39)	missense	probably damaging	1.00
R4384:Frmd4a	UTSW	2	4,599,374 (GRCm39)	nonsense	probably null
R4547:Frmd4a	UTSW	2	4,477,956 (GRCm39)	missense	probably damaging	1.00
R4575:Frmd4a	UTSW	2	4,608,490 (GRCm39)	missense	possibly damaging	0.83
R4577:Frmd4a	UTSW	2	4,608,490 (GRCm39)	missense	possibly damaging	0.83
R4578:Frmd4a	UTSW	2	4,608,490 (GRCm39)	missense	possibly damaging	0.83
R4688:Frmd4a	UTSW	2	4,542,122 (GRCm39)	missense	possibly damaging	0.81
R4764:Frmd4a	UTSW	2	4,608,259 (GRCm39)	missense	probably damaging	1.00
R4826:Frmd4a	UTSW	2	4,606,108 (GRCm39)	missense	probably damaging	1.00
R4879:Frmd4a	UTSW	2	4,534,628 (GRCm39)	missense	probably damaging	1.00
R5053:Frmd4a	UTSW	2	4,608,732 (GRCm39)	missense	probably damaging	1.00
R5392:Frmd4a	UTSW	2	4,599,384 (GRCm39)	missense	probably damaging	1.00
R5733:Frmd4a	UTSW	2	4,305,768 (GRCm39)	missense	possibly damaging	0.53
R5762:Frmd4a	UTSW	2	4,488,876 (GRCm39)	missense	probably damaging	1.00
R5920:Frmd4a	UTSW	2	4,337,927 (GRCm39)	missense	probably benign	0.02
R5932:Frmd4a	UTSW	2	4,534,650 (GRCm39)	missense	probably damaging	1.00
R6117:Frmd4a	UTSW	2	4,607,060 (GRCm39)	missense	possibly damaging	0.66
R6328:Frmd4a	UTSW	2	4,595,509 (GRCm39)	missense	probably damaging	0.99
R6622:Frmd4a	UTSW	2	4,610,873 (GRCm39)	missense	probably benign	0.00
R6903:Frmd4a	UTSW	2	4,591,267 (GRCm39)	missense	probably damaging	1.00
R7065:Frmd4a	UTSW	2	4,570,923 (GRCm39)
R7098:Frmd4a	UTSW	2	4,577,244 (GRCm39)	missense	probably damaging	1.00
R7258:Frmd4a	UTSW	2	4,305,764 (GRCm39)	missense	probably benign
R7336:Frmd4a	UTSW	2	4,478,025 (GRCm39)	missense	possibly damaging	0.92
R7582:Frmd4a	UTSW	2	4,599,408 (GRCm39)	frame shift	probably null
R7607:Frmd4a	UTSW	2	4,596,747 (GRCm39)	nonsense	probably null
R7697:Frmd4a	UTSW	2	4,488,892 (GRCm39)	missense	probably damaging	1.00
R7750:Frmd4a	UTSW	2	4,606,160 (GRCm39)	missense	probably benign	0.14
R7795:Frmd4a	UTSW	2	4,595,506 (GRCm39)	missense	probably damaging	1.00
R7848:Frmd4a	UTSW	2	4,596,728 (GRCm39)	intron	probably benign
R7899:Frmd4a	UTSW	2	4,608,900 (GRCm39)	missense	probably damaging	1.00
R8024:Frmd4a	UTSW	2	4,608,513 (GRCm39)	missense	probably damaging	1.00
R8399:Frmd4a	UTSW	2	4,577,244 (GRCm39)	missense	probably damaging	1.00
R8778:Frmd4a	UTSW	2	4,478,026 (GRCm39)	missense	probably damaging	1.00
R8876:Frmd4a	UTSW	2	4,606,111 (GRCm39)	missense	probably damaging	0.99
R9074:Frmd4a	UTSW	2	4,608,765 (GRCm39)	missense	probably damaging	1.00
R9075:Frmd4a	UTSW	2	4,608,765 (GRCm39)	missense	probably damaging	1.00
R9076:Frmd4a	UTSW	2	4,608,765 (GRCm39)	missense	probably damaging	1.00
R9105:Frmd4a	UTSW	2	4,539,994 (GRCm39)	missense	probably damaging	0.96
R9213:Frmd4a	UTSW	2	4,608,372 (GRCm39)	missense	probably damaging	1.00
R9227:Frmd4a	UTSW	2	4,612,844 (GRCm39)	missense	possibly damaging	0.92
R9230:Frmd4a	UTSW	2	4,612,844 (GRCm39)	missense	possibly damaging	0.92
R9235:Frmd4a	UTSW	2	4,599,366 (GRCm39)	missense	probably damaging	0.99
R9266:Frmd4a	UTSW	2	4,610,846 (GRCm39)	missense	probably damaging	0.99
R9301:Frmd4a	UTSW	2	4,157,904 (GRCm39)	missense	probably benign	0.27
R9307:Frmd4a	UTSW	2	4,609,044 (GRCm39)	missense	probably benign
R9365:Frmd4a	UTSW	2	4,606,973 (GRCm39)	missense	probably benign	0.01
R9476:Frmd4a	UTSW	2	4,608,324 (GRCm39)	missense	probably benign	0.32
R9484:Frmd4a	UTSW	2	4,609,026 (GRCm39)	missense	possibly damaging	0.49
R9510:Frmd4a	UTSW	2	4,608,324 (GRCm39)	missense	probably benign	0.32
R9513:Frmd4a	UTSW	2	4,608,711 (GRCm39)	missense	probably damaging	0.99
Z1176:Frmd4a	UTSW	2	4,502,832 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCACTCCTCACGCTTGGAAC -3'
(R):5'- GGGAGGGACAGTACATGTTTTC -3'

Sequencing Primer
(F):5'- TCACGCTTGGAACACTGC -3'
(R):5'- GGGACAGTACATGTTTTCCTGAAAG -3'

Posted On

2014-10-30