Mutagenetix > Incidental Mutations

Incidental Mutation 'R4948:Frmd4b'

383574

Institutional Source

Beutler Lab

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

6030440G05Rik, GRSP1

MMRRC Submission

042545-MU

Accession Numbers

Ncbi RefSeq: NM_145148.2; MGI:2141794

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97286867-97617541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97306730 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 393 (E393D)

Ref Sequence

ENSEMBL: ENSMUSP00000108986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032146] [ENSMUST00000113355] [ENSMUST00000113359]

Predicted Effect

probably benign
Transcript: ENSMUST00000032146
AA Change: E439D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: E439D

Domain	Start	End	E-Value	Type
B41	55	260	7.4e-35	SMART
FERM_C	264	365	8.7e-26	SMART
Pfam:DUF3338	395	529	4.5e-55	PFAM
coiled coil region	534	558	N/A	INTRINSIC
low complexity region	571	592	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	941	958	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113355
AA Change: E385D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: E385D

Domain	Start	End	E-Value	Type
B41	1	206	4.5e-37	SMART
FERM_C	210	311	4.1e-30	SMART
Pfam:DUF3338	340	476	6.9e-58	PFAM
coiled coil region	480	504	N/A	INTRINSIC
low complexity region	517	538	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
low complexity region	887	904	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113359
AA Change: E393D

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: E393D

Domain	Start	End	E-Value	Type
B41	9	214	7.4e-35	SMART
FERM_C	218	319	8.7e-26	SMART
Pfam:DUF3338	348	484	8e-61	PFAM
coiled coil region	488	512	N/A	INTRINSIC
low complexity region	525	546	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
low complexity region	895	912	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155326

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]

Allele List at MGI

All alleles(24) : Targeted(2) Gene trapped(22)

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,290		probably null	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Alas1	A	T	9: 106,246,878	L27*	probably null	Het
Aldh1a7	A	G	19: 20,727,010	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,194,583	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,769,144	M38L	probably benign	Het
Brd8	A	G	18: 34,614,532	V92A	probably damaging	Het
Btla	A	T	16: 45,242,728	E151D	probably benign	Het
C87499	A	T	4: 88,628,948	L162H	probably damaging	Het
Cd79b	T	A	11: 106,312,861	T67S	probably benign	Het
Cep192	A	G	18: 67,816,804	R320G	probably benign	Het
Chad	A	C	11: 94,565,702	D202A	probably damaging	Het
Chil6	A	G	3: 106,388,672		probably benign	Het
Cpz	T	C	5: 35,517,404	E167G	possibly damaging	Het
Crisp2	T	G	17: 40,765,268	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,021,699	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,479,767	L49H	probably damaging	Het
Dnah6	T	A	6: 73,053,689	H3380L	probably benign	Het
Dnm2	A	G	9: 21,504,533	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,316,760	T15K	probably benign	Het
Dock3	A	T	9: 106,991,155	D643E	probably damaging	Het
Ear6	C	T	14: 51,854,116	T40I	possibly damaging	Het
Fancm	A	G	12: 65,090,974	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,438,347	E272V	probably damaging	Het
Fryl	T	A	5: 73,089,130	M1100L	probably benign	Het
Gjc1	T	C	11: 102,800,421	H252R	probably damaging	Het
Gm10518	T	C	1: 179,803,912		probably benign	Het
Gna14	A	G	19: 16,603,292	M165V	probably benign	Het
Hells	C	A	19: 38,935,522	Q72K	probably damaging	Het
Herc1	A	G	9: 66,484,902	I4031V	probably benign	Het
Hspa2	C	T	12: 76,405,987	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,193,818	I70F	probably benign	Het
Il20rb	A	T	9: 100,461,539		probably benign	Het
Krt1	C	A	15: 101,845,941	V625L	unknown	Het
Lamc3	T	C	2: 31,940,736	I1495T	probably benign	Het
Larp6	A	G	9: 60,737,780	E401G	possibly damaging	Het
Ldha	A	T	7: 46,847,381	H19L	probably benign	Het
Lrba	A	G	3: 86,285,028	N83S	probably damaging	Het
Lrp4	G	T	2: 91,485,886	R783L	probably benign	Het
Lrrk2	T	G	15: 91,803,389	I2227S	probably benign	Het
Lvrn	T	C	18: 46,880,736	L495P	probably damaging	Het
Macf1	T	C	4: 123,497,755	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,241,230	T425A	probably damaging	Het
Mcam	A	G	9: 44,136,566	E36G	probably damaging	Het
Meis1	T	A	11: 19,016,308	T22S	probably benign	Het
Micu1	A	G	10: 59,863,254	K451R	possibly damaging	Het
Mrvi1	A	G	7: 110,888,029	V498A	probably damaging	Het
Nat8	A	T	6: 85,830,523	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,716,410	R56*	probably null	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1002	T	C	2: 85,647,572	I250V	probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr1451	A	T	19: 12,999,831	T282S	probably benign	Het
Olfr192	G	A	16: 59,098,977	T5I	probably damaging	Het
Palm3	A	T	8: 84,027,079	R132*	probably null	Het
Pax2	A	G	19: 44,816,040	Y272C	probably damaging	Het
Phc2	G	A	4: 128,723,115	A394T	probably benign	Het
Phf2	C	A	13: 48,807,722	G831C	unknown	Het
Pik3c2b	G	A	1: 133,099,715		probably null	Het
Plin2	T	A	4: 86,661,991	I178F	probably benign	Het
Prdm14	T	A	1: 13,122,631	I295F	probably damaging	Het
Psmd5	C	T	2: 34,870,783	R47H	probably benign	Het
Ptchd3	T	A	11: 121,842,516	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,776,545		probably benign	Het
Rab6a	A	G	7: 100,628,420	D49G	probably damaging	Het
Radil	A	T	5: 142,485,239	D1062E	probably benign	Het
Robo2	A	G	16: 74,352,838	V34A	possibly damaging	Het
Sall3	G	A	18: 80,971,411	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,068,101	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,244,166	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,689,751	V406A	probably damaging	Het
Sf3b3	T	C	8: 110,813,669	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,979,435	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,843,046	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,583,283	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,198,258	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,719,882	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc6a12	A	G	6: 121,355,322	D205G	probably benign	Het
Tas2r115	G	A	6: 132,737,161	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,797,011	I205N	probably damaging	Het
Tfeb	C	T	17: 47,785,979	T33I	probably benign	Het
Tgm3	A	G	2: 130,048,320	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,260	V201A	probably benign	Het
Tpcn1	T	A	5: 120,556,531	M158L	probably benign	Het
Trim47	A	C	11: 116,106,092	L612R	probably damaging	Het
Trmt10c	A	T	16: 56,034,075	L399*	probably null	Het
Trpm2	A	T	10: 77,917,792	S1293T	probably benign	Het
Ttn	C	T	2: 76,752,597	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,806,123	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,419,121	E565K	probably damaging	Het
Vmn2r97	T	C	17: 18,947,299	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,776,264	V399A	probably damaging	Het
Wdr63	T	A	3: 146,083,065	K254*	probably null	Het
Wnk4	G	A	11: 101,268,281	R508Q	probably damaging	Het
Zfp217	A	G	2: 170,119,210	V399A	probably damaging	Het
Zfp616	T	A	11: 74,084,004	N457K	possibly damaging	Het

Other mutations in Frmd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Frmd4b	APN	6	97308060	missense	probably damaging	1.00
IGL01478:Frmd4b	APN	6	97328293	missense	probably damaging	1.00
IGL01760:Frmd4b	APN	6	97308702	missense	probably damaging	1.00
IGL01777:Frmd4b	APN	6	97295944	missense	probably benign	0.03
IGL01960:Frmd4b	APN	6	97295780	missense	possibly damaging	0.93
IGL02408:Frmd4b	APN	6	97295809	missense	probably damaging	1.00
IGL02429:Frmd4b	APN	6	97325429	splice site	probably benign
IGL02525:Frmd4b	APN	6	97412533	missense	probably damaging	1.00
IGL02618:Frmd4b	APN	6	97308105	nonsense	probably null
IGL03051:Frmd4b	APN	6	97295982	nonsense	probably null
IGL03120:Frmd4b	APN	6	97396245	missense	possibly damaging	0.88
IGL03218:Frmd4b	APN	6	97308114	missense	probably benign	0.01
IGL03260:Frmd4b	APN	6	97396224	missense	probably damaging	1.00
IGL02984:Frmd4b	UTSW	6	97296260	missense	probably damaging	0.96
P0031:Frmd4b	UTSW	6	97354030	missense	probably damaging	1.00
R0055:Frmd4b	UTSW	6	97323649	splice site	probably benign
R0055:Frmd4b	UTSW	6	97323649	splice site	probably benign
R0058:Frmd4b	UTSW	6	97423499	missense	probably damaging	1.00
R0255:Frmd4b	UTSW	6	97308086	missense	probably damaging	1.00
R0437:Frmd4b	UTSW	6	97423463	missense	probably damaging	1.00
R0594:Frmd4b	UTSW	6	97325426	splice site	probably benign
R1525:Frmd4b	UTSW	6	97296386	missense	probably damaging	0.97
R1640:Frmd4b	UTSW	6	97308673	missense	possibly damaging	0.91
R1768:Frmd4b	UTSW	6	97306764	missense	possibly damaging	0.68
R1923:Frmd4b	UTSW	6	97288454	missense	probably benign	0.33
R2056:Frmd4b	UTSW	6	97412487	critical splice donor site	probably null
R2192:Frmd4b	UTSW	6	97487616	missense	probably damaging	0.98
R3809:Frmd4b	UTSW	6	97323729	missense	possibly damaging	0.49
R3831:Frmd4b	UTSW	6	97412525	nonsense	probably null
R4466:Frmd4b	UTSW	6	97323653	critical splice donor site	probably null
R4536:Frmd4b	UTSW	6	97310732	missense	possibly damaging	0.57
R4652:Frmd4b	UTSW	6	97295755	missense	probably benign	0.38
R4679:Frmd4b	UTSW	6	97295666	missense	possibly damaging	0.94
R4735:Frmd4b	UTSW	6	97459259	start gained	probably benign
R4793:Frmd4b	UTSW	6	97295861	missense	probably damaging	0.99
R4940:Frmd4b	UTSW	6	97298090	missense	probably damaging	1.00
R5092:Frmd4b	UTSW	6	97295980	missense	probably damaging	0.98
R5119:Frmd4b	UTSW	6	97300314	missense	probably benign	0.03
R5289:Frmd4b	UTSW	6	97302348	splice site	probably null
R5610:Frmd4b	UTSW	6	97306791	missense	probably benign
R5690:Frmd4b	UTSW	6	97353203	missense	possibly damaging	0.56
R6248:Frmd4b	UTSW	6	97459212	missense	probably benign	0.10
R6437:Frmd4b	UTSW	6	97296267	missense	probably damaging	1.00
R6459:Frmd4b	UTSW	6	97487640	missense	probably damaging	1.00
R6825:Frmd4b	UTSW	6	97325476	missense	possibly damaging	0.89
R6964:Frmd4b	UTSW	6	97305197	missense	probably damaging	1.00
R7110:Frmd4b	UTSW	6	97296231	nonsense	probably null
R7154:Frmd4b	UTSW	6	97306746	missense	probably damaging	1.00
R7764:Frmd4b	UTSW	6	97295930	missense	probably damaging	1.00
R8073:Frmd4b	UTSW	6	97306713	missense	probably benign	0.03
R8382:Frmd4b	UTSW	6	97305248	missense	probably benign
X0020:Frmd4b	UTSW	6	97305365	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAGTGGATACTCCTTTGGC -3'
(R):5'- GTGAACGGTCTCCTGGTTTC -3'

Sequencing Primer
(F):5'- CAGTGGATACTCCTTTGGCATTCTG -3'
(R):5'- TAAAAGCAGCATTGGGGCCC -3'

Posted On

2016-04-27