Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Frmd4b'

541881

Institutional Source

Beutler Lab

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

6030440G05Rik, GRSP1

MMRRC Submission

045074-MU

Accession Numbers

Ncbi RefSeq: NM_145148.2; MGI:2141794

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97286867-97617541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97305197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 510 (R510Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108986 (fasta)

Gene Model

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

AlphaFold

Q920B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032146
AA Change: R556Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: R556Q

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 damaging
Transcript: ENSMUST00000113355
AA Change: R502Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: R502Q

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 damaging
Transcript: ENSMUST00000113359
AA Change: R510Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: R510Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	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
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
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
R8746:Frmd4b	UTSW	6	97292409	missense	probably benign
R8856:Frmd4b	UTSW	6	97292398	nonsense	probably null
R8881:Frmd4b	UTSW	6	97295774	missense	probably benign	0.00
R8885:Frmd4b	UTSW	6	97412519	missense	probably benign	0.01
R8907:Frmd4b	UTSW	6	97296085	missense	probably damaging	1.00
R8975:Frmd4b	UTSW	6	97306516	missense	possibly damaging	0.46
R9032:Frmd4b	UTSW	6	97292373	missense	probably benign	0.00
R9085:Frmd4b	UTSW	6	97292373	missense	probably benign	0.00
R9094:Frmd4b	UTSW	6	97421598	missense
R9429:Frmd4b	UTSW	6	97302291	missense	probably damaging	1.00
X0020:Frmd4b	UTSW	6	97305365	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGTTGACACACGCCTTTGAC -3'
(R):5'- CATTGTCTAAATGCAGGATCCGG -3'

Sequencing Primer
(F):5'- CTGAAAATTCAACTGTGTCTACCCGG -3'
(R):5'- AATGCAGGATCCGGCTTTAC -3'

Posted On

2018-11-28