Mutagenetix > Incidental Mutations

Incidental Mutation 'R4679:Frmd4b'

349915

Institutional Source

Beutler Lab

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

6030440G05Rik, GRSP1

MMRRC Submission

041932-MU

Accession Numbers

Ncbi RefSeq: NM_145148.2; MGI:2141794

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97286867-97617541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97295666 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 868 (D868N)

Ref Sequence

ENSEMBL: ENSMUSP00000108982 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032146
AA Change: D922N

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: D922N

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

possibly damaging
Transcript: ENSMUST00000113355
AA Change: D868N

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: D868N

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

possibly damaging
Transcript: ENSMUST00000113359
AA Change: D876N

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: D876N

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: ENSMUST00000143698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203486

Meta Mutation Damage Score

0.1011

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	C	T	4: 35,226,033		probably benign	Het
AA986860	T	A	1: 130,742,403	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,078,804	V450A	probably benign	Het
Abcg1	A	T	17: 31,114,261	R659S	probably benign	Het
Acad9	A	T	3: 36,088,840	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,060,918	C393S	probably damaging	Het
Adcy7	T	C	8: 88,317,937	V486A	probably benign	Het
Adgrf1	G	T	17: 43,310,493	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,078,828	I285T	probably benign	Het
Arhgap27	G	T	11: 103,360,949		probably benign	Het
Armc5	A	T	7: 128,240,104	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955	K742M	probably benign	Het
Atp9a	T	G	2: 168,661,964	T603P	possibly damaging	Het
Bsn	A	G	9: 108,110,130	S2808P	unknown	Het
Catsper4	T	C	4: 134,226,605	N81S	probably damaging	Het
Ccl17	C	G	8: 94,810,500	T10S	probably benign	Het
Cdc123	A	T	2: 5,844,892	V6D	probably damaging	Het
Cdca2	T	C	14: 67,714,966	K14E	possibly damaging	Het
Cdh3	C	A	8: 106,539,856	T302K	probably damaging	Het
Cdh9	A	G	15: 16,850,959	M605V	probably benign	Het
Cdk4	A	G	10: 127,064,911	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,543,271	A879V	probably damaging	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,531	D518G	probably benign	Het
Cog1	C	T	11: 113,652,290	A208V	probably damaging	Het
Col4a2	T	A	8: 11,431,337	H836Q	possibly damaging	Het
Copb1	T	C	7: 114,248,976	D108G	probably damaging	Het
Csmd3	A	T	15: 48,161,083	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,407,833	H164Q	probably benign	Het
Dkc1	A	G	X: 75,100,992	I215V	probably benign	Het
Enpep	A	G	3: 129,303,713		probably null	Het
Fam71b	T	A	11: 46,404,813	M4K	possibly damaging	Het
Fbln7	A	G	2: 128,894,886	Y311C	probably damaging	Het
Fign	A	C	2: 63,979,261	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,671,688		probably benign	Het
Fmn2	T	C	1: 174,503,162	S373P	unknown	Het
Gfpt2	A	G	11: 49,823,737	N321S	probably benign	Het
Glmn	G	T	5: 107,561,075	T372K	probably damaging	Het
Gm26602	C	T	10: 79,910,974		probably benign	Het
Gm6797	A	G	X: 8,639,694		noncoding transcript	Het
Gpat3	T	A	5: 100,893,456	F383L	probably damaging	Het
Grrp1	A	G	4: 134,251,436	S244P	probably damaging	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,657,015	H268Y	probably benign	Het
Hectd4	G	T	5: 121,325,251	C2345F	possibly damaging	Het
Htt	A	G	5: 34,820,080	D770G	probably benign	Het
Ints3	T	C	3: 90,408,510	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,394,169	F608L	probably benign	Het
Irak1	A	C	X: 74,022,389		probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Lag3	T	A	6: 124,904,545	Q488L	possibly damaging	Het
Large2	A	T	2: 92,367,558	L266Q	probably benign	Het
Lrp3	T	G	7: 35,203,940	D327A	probably damaging	Het
Mamstr	C	A	7: 45,644,692		probably benign	Het
Mettl14	G	A	3: 123,369,414		probably benign	Het
Miga1	A	G	3: 152,322,475	V139A	probably damaging	Het
Mthfd2l	A	C	5: 90,948,911	R130S	probably benign	Het
Myo1b	A	G	1: 51,757,973	I970T	possibly damaging	Het
Nat10	C	A	2: 103,732,170	W607L	probably damaging	Het
Nop56	A	G	2: 130,278,273	T183A	probably benign	Het
Olfr1258	A	G	2: 89,930,664	Y285C	possibly damaging	Het
Olfr239	A	G	17: 33,199,393	H115R	probably benign	Het
Olfr291	T	A	7: 84,856,904	Y178*	probably null	Het
Olfr464	T	A	11: 87,914,310	M199L	probably benign	Het
Olfr592	A	G	7: 103,187,102	Y167C	probably benign	Het
Olfr710	A	T	7: 106,944,945	S19T	probably benign	Het
Pcdhb12	T	C	18: 37,436,949	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,695,005	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plscr2	T	G	9: 92,287,770	L91R	probably benign	Het
Plxnc1	T	A	10: 94,794,444	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,685,182	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,456,551	E158G	probably damaging	Het
Rasip1	T	A	7: 45,627,823	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,655,924	N166I	probably damaging	Het
Ripor1	T	A	8: 105,617,785	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,824,369	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sept14	T	C	5: 129,693,026	D202G	possibly damaging	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,161,584	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,182,669	Y927F	probably benign	Het
Spats2	T	G	15: 99,180,722	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,922,462		probably null	Het
T2	A	G	17: 8,391,016	E99G	possibly damaging	Het
Taf3	G	A	2: 10,048,564		probably benign	Het
Tnfsf10	A	T	3: 27,335,579	N263I	probably damaging	Het
Treml2	A	T	17: 48,308,175	R229S	probably benign	Het
Trmt13	T	C	3: 116,589,755	K125E	probably damaging	Het
Ttc9	G	T	12: 81,631,601	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,082,214		noncoding transcript	Het
Zfp932	A	T	5: 110,009,894	H486L	probably 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
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
R4948:Frmd4b	UTSW	6	97306730	missense	probably benign	0.06
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'- ACCACTCTGAATGACCTCGG -3'
(R):5'- ACAGCAGGTCTTTCCATGAAG -3'

Sequencing Primer
(F):5'- GGGACCAATTTATGACCCTGGAC -3'
(R):5'- CTTTCCATGAAGATGAAGTAGACCGC -3'

Posted On

2015-10-08