Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02429:Frmd4b'

293076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

6030440G05Rik, GRSP1

Accession Numbers

Ncbi RefSeq: NM_145148.2; MGI:2141794

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

97286867-97617541 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 97325429 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108986 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032146

SMART Domains

Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064

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

noncoding transcript
Transcript: ENSMUST00000113353

SMART Domains

Protein: ENSMUSP00000108980
Gene: ENSMUSG00000030064

Domain	Start	End	E-Value	Type
B41	55	260	7.4e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113355

SMART Domains

Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064

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

SMART Domains

Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064

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: ENSMUST00000152385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155326

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,759,716	D245V	probably damaging	Het
Adamts16	G	A	13: 70,787,170		probably benign	Het
Arhgap36	A	G	X: 49,494,706	D77G	possibly damaging	Het
Asap1	A	T	15: 64,167,740	M187K	probably damaging	Het
Aspm	T	C	1: 139,479,810	V2145A	probably benign	Het
Casc4	A	G	2: 121,911,987	T306A	probably benign	Het
Cd46	T	C	1: 195,085,424	T110A	probably benign	Het
Chl1	T	A	6: 103,664,809		probably benign	Het
Clca3b	A	G	3: 144,828,135	L493S	probably damaging	Het
Col11a2	C	T	17: 34,042,292	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,871,982		probably benign	Het
Glyr1	A	G	16: 5,019,376	M397T	probably benign	Het
Gtf2a1l	G	T	17: 88,668,713	M1I	probably null	Het
Hdac4	A	G	1: 92,012,695	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720	C422S	probably damaging	Het
Kng2	T	A	16: 23,012,079	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,778,167	A136S	probably damaging	Het
Ltf	T	C	9: 111,026,125	I402T	possibly damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 132,028,499	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,089,334	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,827,788	R114W	probably damaging	Het
Myh4	A	T	11: 67,258,982	K1818*	probably null	Het
Myo1h	C	T	5: 114,359,738		probably benign	Het
Ncapd3	T	A	9: 27,089,302	S1402T	probably benign	Het
Nutm2	A	G	13: 50,469,480	N71S	probably benign	Het
Oas1c	C	A	5: 120,802,068	M344I	probably benign	Het
Olfr978	T	A	9: 39,993,842	F11I	probably benign	Het
Phldb1	A	G	9: 44,700,950	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,882,591	E494G	probably benign	Het
Pole	T	C	5: 110,299,800	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,384,615	S203P	probably benign	Het
Pth2r	G	T	1: 65,346,839	M240I	probably benign	Het
Ptprr	T	A	10: 116,273,767	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,210,488	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,413,895	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,651,131	Y8H	probably benign	Het
Rph3a	A	T	5: 120,980,124		probably null	Het
Runx1t1	A	T	4: 13,865,294		probably benign	Het
Slc37a1	T	A	17: 31,300,509		probably null	Het
Slc38a10	T	C	11: 120,134,888		probably benign	Het
Slc38a6	T	C	12: 73,350,568	V328A	probably benign	Het
Slf2	T	C	19: 44,941,728	S415P	probably benign	Het
Spata17	C	A	1: 187,140,434	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369	D2237E	probably benign	Het
Swap70	T	A	7: 110,263,972	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,827,718	D505G	probably benign	Het
Traf1	A	G	2: 34,949,103	V70A	probably benign	Het
Traf3	T	A	12: 111,243,465	V165E	probably benign	Het
Trpc5	T	C	X: 144,411,799	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,241,305	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,334,244	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,552	I221V	probably benign	Het
Vmn2r97	T	A	17: 18,930,334	V481E	possibly damaging	Het
Wisp3	T	C	10: 39,154,993	N178S	probably benign	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
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
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
X0020:Frmd4b	UTSW	6	97305365	nonsense	probably null

Posted On

2015-04-16