Mutagenetix > Incidental Mutation

Incidental Mutation 'R4735:Frmd4b'

356455

Institutional Source

Beutler Lab

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

GRSP1, 6030440G05Rik

MMRRC Submission

041962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97263828-97594502 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 97436220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108986 (fasta)

Gene Model

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

AlphaFold

Q920B0

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: ENSMUST00000142589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,262,897 (GRCm39)	I1410N	possibly damaging	Het
9230106D20Rik	T	C	10: 19,536,001 (GRCm39)		noncoding transcript	Het
Acsf3	T	A	8: 123,508,218 (GRCm39)	I238N	probably damaging	Het
Ahctf1	T	C	1: 179,580,964 (GRCm39)	N1746S	probably benign	Het
Akap3	T	C	6: 126,842,601 (GRCm39)	S407P	probably damaging	Het
Ankfy1	T	A	11: 72,621,437 (GRCm39)	M241K	probably benign	Het
Ano7	C	A	1: 93,328,216 (GRCm39)	T622K	probably benign	Het
App	T	C	16: 84,900,202 (GRCm39)	T83A	probably damaging	Het
Arhgef28	T	A	13: 98,036,237 (GRCm39)	E1674V	probably damaging	Het
Asb2	C	A	12: 103,291,317 (GRCm39)	V489L	probably benign	Het
Atrn	T	C	2: 130,862,910 (GRCm39)	V1330A	probably benign	Het
Bltp1	T	A	3: 37,059,116 (GRCm39)	N3267K	possibly damaging	Het
Brca1	A	G	11: 101,383,001 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Ccdc168	A	G	1: 44,100,861 (GRCm39)	I79T	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr1	T	A	15: 85,790,230 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,369,384 (GRCm39)	V116A	possibly damaging	Het
Crb3	A	G	17: 57,372,207 (GRCm39)	T85A	probably damaging	Het
Cyld	T	C	8: 89,456,278 (GRCm39)	S443P	probably damaging	Het
Cyp27a1	T	G	1: 74,776,366 (GRCm39)	V434G	possibly damaging	Het
Cyp2b13	A	G	7: 25,787,720 (GRCm39)	T339A	probably benign	Het
Dars1	A	T	1: 128,303,971 (GRCm39)	L252*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Ddx55	T	C	5: 124,704,539 (GRCm39)	F382S	probably damaging	Het
Dmtf1l	T	A	X: 125,722,217 (GRCm39)	K296M	probably damaging	Het
Dnah7b	G	A	1: 46,106,115 (GRCm39)	R33Q	unknown	Het
Dnm2	G	T	9: 21,385,883 (GRCm39)	S302I	probably damaging	Het
Dock4	T	A	12: 40,681,525 (GRCm39)	F75I	probably benign	Het
Dpp10	T	C	1: 123,326,356 (GRCm39)	N365S	probably benign	Het
Dpy19l3	G	T	7: 35,422,146 (GRCm39)	Q236K	probably benign	Het
Dsp	T	C	13: 38,380,016 (GRCm39)	S1655P	probably damaging	Het
Ebpl	A	T	14: 61,579,567 (GRCm39)	I117N	probably damaging	Het
Edc4	T	A	8: 106,613,818 (GRCm39)	V386E	probably damaging	Het
Eif2s2	T	A	2: 154,720,467 (GRCm39)		probably null	Het
Elob	A	T	17: 24,046,562 (GRCm39)		probably null	Het
Enox2	T	C	X: 48,158,554 (GRCm39)	I71V	probably damaging	Het
Fez1	A	T	9: 36,772,141 (GRCm39)	K149*	probably null	Het
Fhip2a	A	G	19: 57,359,661 (GRCm39)	E67G	probably damaging	Het
Fign	A	G	2: 63,810,782 (GRCm39)	Y163H	probably damaging	Het
Flnc	G	A	6: 29,455,812 (GRCm39)	G2048S	probably damaging	Het
Fras1	A	G	5: 96,736,022 (GRCm39)	D539G	probably benign	Het
Gan	C	T	8: 117,920,970 (GRCm39)	T402M	probably damaging	Het
Ganc	T	A	2: 120,267,104 (GRCm39)		silent	Het
Ggt6	C	A	11: 72,327,425 (GRCm39)	R103S	probably benign	Het
Gli2	T	C	1: 118,768,052 (GRCm39)	D725G	probably damaging	Het
Gm15446	T	A	5: 110,090,818 (GRCm39)	C357S	probably damaging	Het
Gm44501	A	G	17: 40,889,810 (GRCm39)	N108S	probably benign	Het
Gm6309	A	T	5: 146,105,054 (GRCm39)	D286E	probably damaging	Het
Gm6358	G	A	16: 88,937,848 (GRCm39)	G29E	unknown	Het
Grik5	A	G	7: 24,757,713 (GRCm39)	I422T	probably damaging	Het
Grin2c	A	G	11: 115,140,422 (GRCm39)	I1232T	possibly damaging	Het
Gsg1	C	T	6: 135,214,405 (GRCm39)	R365H	possibly damaging	Het
H2-M2	A	G	17: 37,794,135 (GRCm39)	S30P	possibly damaging	Het
Hcfc2	A	G	10: 82,547,914 (GRCm39)	D302G	probably damaging	Het
Hk2	T	C	6: 82,721,955 (GRCm39)	D128G	probably benign	Het
Hmcn2	C	A	2: 31,273,787 (GRCm39)	Q1380K	probably benign	Het
Hsp90b1	G	T	10: 86,529,819 (GRCm39)	P617T	probably damaging	Het
Htr1d	A	G	4: 136,170,197 (GRCm39)	E142G	probably benign	Het
Hydin	G	A	8: 111,282,264 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,332,455 (GRCm39)	N81K	probably benign	Het
Inpp5b	T	C	4: 124,677,760 (GRCm39)	S407P	probably damaging	Het
Itpkb	T	C	1: 180,245,780 (GRCm39)	Y766H	probably damaging	Het
Lyrm2	T	A	4: 32,801,150 (GRCm39)	I65N	probably damaging	Het
Mink1	T	A	11: 70,500,086 (GRCm39)		probably null	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Msx3	G	A	7: 139,627,798 (GRCm39)	A157V	probably damaging	Het
Nrxn2	T	G	19: 6,548,484 (GRCm39)	V59G	possibly damaging	Het
Nt5c3b	T	C	11: 100,331,732 (GRCm39)	T12A	probably benign	Het
Nwd2	G	A	5: 63,965,594 (GRCm39)	R1726Q	probably benign	Het
Nynrin	A	G	14: 56,107,625 (GRCm39)	T911A	probably benign	Het
Or11i1	T	A	3: 106,728,996 (GRCm39)	Y293F	probably damaging	Het
Or4p18	T	C	2: 88,233,267 (GRCm39)	T4A	probably benign	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or51af1	C	T	7: 103,141,267 (GRCm39)	V273M	possibly damaging	Het
Or52n20	C	T	7: 104,320,200 (GRCm39)	T97I	probably benign	Het
Or5p66	A	G	7: 107,885,520 (GRCm39)	M271T	probably benign	Het
Or6c212	A	G	10: 129,558,792 (GRCm39)	I207T	probably benign	Het
Patl1	G	T	19: 11,899,869 (GRCm39)	M220I	probably benign	Het
Pcnx2	A	T	8: 126,554,780 (GRCm39)		probably null	Het
Pigr	A	T	1: 130,774,291 (GRCm39)	T424S	probably damaging	Het
Pik3c2b	T	A	1: 132,994,787 (GRCm39)	D250E	probably benign	Het
Ppa2	G	A	3: 133,076,186 (GRCm39)	E272K	probably benign	Het
Pramel7	G	A	2: 87,321,187 (GRCm39)	Q283*	probably null	Het
Prelid3b	A	G	2: 174,307,683 (GRCm39)	I81T	probably benign	Het
Prpf38a	T	C	4: 108,436,242 (GRCm39)	I24V	possibly damaging	Het
Ptger2	A	G	14: 45,239,295 (GRCm39)	D311G	possibly damaging	Het
Rab4b	A	T	7: 26,872,191 (GRCm39)		probably benign	Het
Rad17	A	C	13: 100,755,637 (GRCm39)	D581E	probably damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Scaf4	C	T	16: 90,049,320 (GRCm39)	D256N	unknown	Het
Serinc2	A	G	4: 130,157,438 (GRCm39)	F82L	probably benign	Het
Serpina3g	T	A	12: 104,205,372 (GRCm39)	V37E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,254 (GRCm39)	M263L	probably benign	Het
Shbg	A	G	11: 69,508,326 (GRCm39)	I67T	possibly damaging	Het
Slc25a48	G	A	13: 56,596,887 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 109,005,923 (GRCm39)	W144R	probably damaging	Het
Slc34a1	A	T	13: 55,561,397 (GRCm39)	T621S	probably benign	Het
Slc6a18	A	T	13: 73,814,554 (GRCm39)	C419S	probably benign	Het
Smc5	A	T	19: 23,220,069 (GRCm39)	D389E	probably benign	Het
Smco3	T	A	6: 136,808,636 (GRCm39)	E79D	probably damaging	Het
Sox5	A	G	6: 143,906,561 (GRCm39)	F298S	probably damaging	Het
Sphkap	A	G	1: 83,256,838 (GRCm39)	S304P	probably benign	Het
Tcea2	C	T	2: 181,328,514 (GRCm39)	T211I	probably damaging	Het
Tcf4	G	T	18: 69,697,226 (GRCm39)	S34I	possibly damaging	Het
Tlr4	C	T	4: 66,759,435 (GRCm39)	R743C	probably damaging	Het
Tmem183a	T	C	1: 134,288,620 (GRCm39)	E67G	probably damaging	Het
Tpr	C	T	1: 150,317,947 (GRCm39)	R2152C	possibly damaging	Het
Trbv15	T	C	6: 41,118,358 (GRCm39)	I38T	probably benign	Het
Treh	G	A	9: 44,592,849 (GRCm39)	A125T	probably damaging	Het
Trio	A	T	15: 27,752,875 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,782,293 (GRCm39)	V981A	probably damaging	Het
Uap1l1	A	G	2: 25,252,732 (GRCm39)	L436P	probably damaging	Het
Uba7	A	T	9: 107,854,115 (GRCm39)	I182F	possibly damaging	Het
Unc13c	A	T	9: 73,600,620 (GRCm39)	S1375T	probably benign	Het
Usp48	C	CT	4: 137,360,680 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,652,780 (GRCm39)	V378G	possibly damaging	Het
Vmn1r69	A	T	7: 10,314,926 (GRCm39)		probably benign	Het
Vmn1r86	A	T	7: 12,836,221 (GRCm39)	H218Q	probably damaging	Het
Vmn2r121	T	A	X: 123,038,335 (GRCm39)	I562L	probably benign	Het
Vmn2r45	A	T	7: 8,486,472 (GRCm39)	I272N	probably damaging	Het
Wdr90	A	G	17: 26,078,424 (GRCm39)	V320A	probably benign	Het
Wfikkn1	A	G	17: 26,097,367 (GRCm39)	V319A	possibly damaging	Het
Whamm	A	G	7: 81,221,122 (GRCm39)	D18G	probably benign	Het
Wrn	T	A	8: 33,775,250 (GRCm39)	I605F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,178 (GRCm39)	F232L	probably damaging	Het
Zfp41	T	C	15: 75,490,609 (GRCm39)	I187T	probably benign	Het
Zfp418	A	G	7: 7,185,561 (GRCm39)	Y508C	probably damaging	Het
Zfp560	T	G	9: 20,260,347 (GRCm39)	I172L	probably benign	Het
Zfp943	A	T	17: 22,211,391 (GRCm39)	D159V	probably benign	Het
Zfp955a	T	C	17: 33,460,696 (GRCm39)	I479V	probably benign	Het
Zfpm1	T	A	8: 123,062,219 (GRCm39)	V426D	probably benign	Het
Zic1	C	T	9: 91,246,558 (GRCm39)	M171I	possibly damaging	Het

Other mutations in Frmd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Frmd4b	APN	6	97,285,021 (GRCm39)	missense	probably damaging	1.00
IGL01478:Frmd4b	APN	6	97,305,254 (GRCm39)	missense	probably damaging	1.00
IGL01760:Frmd4b	APN	6	97,285,663 (GRCm39)	missense	probably damaging	1.00
IGL01777:Frmd4b	APN	6	97,272,905 (GRCm39)	missense	probably benign	0.03
IGL01960:Frmd4b	APN	6	97,272,741 (GRCm39)	missense	possibly damaging	0.93
IGL02408:Frmd4b	APN	6	97,272,770 (GRCm39)	missense	probably damaging	1.00
IGL02429:Frmd4b	APN	6	97,302,390 (GRCm39)	splice site	probably benign
IGL02525:Frmd4b	APN	6	97,389,494 (GRCm39)	missense	probably damaging	1.00
IGL02618:Frmd4b	APN	6	97,285,066 (GRCm39)	nonsense	probably null
IGL03051:Frmd4b	APN	6	97,272,943 (GRCm39)	nonsense	probably null
IGL03120:Frmd4b	APN	6	97,373,206 (GRCm39)	missense	possibly damaging	0.88
IGL03218:Frmd4b	APN	6	97,285,075 (GRCm39)	missense	probably benign	0.01
IGL03260:Frmd4b	APN	6	97,373,185 (GRCm39)	missense	probably damaging	1.00
IGL02984:Frmd4b	UTSW	6	97,273,221 (GRCm39)	missense	probably damaging	0.96
P0031:Frmd4b	UTSW	6	97,330,991 (GRCm39)	missense	probably damaging	1.00
R0055:Frmd4b	UTSW	6	97,300,610 (GRCm39)	splice site	probably benign
R0055:Frmd4b	UTSW	6	97,300,610 (GRCm39)	splice site	probably benign
R0058:Frmd4b	UTSW	6	97,400,460 (GRCm39)	missense	probably damaging	1.00
R0255:Frmd4b	UTSW	6	97,285,047 (GRCm39)	missense	probably damaging	1.00
R0437:Frmd4b	UTSW	6	97,400,424 (GRCm39)	missense	probably damaging	1.00
R0594:Frmd4b	UTSW	6	97,302,387 (GRCm39)	splice site	probably benign
R1525:Frmd4b	UTSW	6	97,273,347 (GRCm39)	missense	probably damaging	0.97
R1640:Frmd4b	UTSW	6	97,285,634 (GRCm39)	missense	possibly damaging	0.91
R1768:Frmd4b	UTSW	6	97,283,725 (GRCm39)	missense	possibly damaging	0.68
R1923:Frmd4b	UTSW	6	97,265,415 (GRCm39)	missense	probably benign	0.33
R2056:Frmd4b	UTSW	6	97,389,448 (GRCm39)	critical splice donor site	probably null
R2192:Frmd4b	UTSW	6	97,464,577 (GRCm39)	missense	probably damaging	0.98
R3809:Frmd4b	UTSW	6	97,300,690 (GRCm39)	missense	possibly damaging	0.49
R3831:Frmd4b	UTSW	6	97,389,486 (GRCm39)	nonsense	probably null
R4466:Frmd4b	UTSW	6	97,300,614 (GRCm39)	critical splice donor site	probably null
R4536:Frmd4b	UTSW	6	97,287,693 (GRCm39)	missense	possibly damaging	0.57
R4652:Frmd4b	UTSW	6	97,272,716 (GRCm39)	missense	probably benign	0.38
R4679:Frmd4b	UTSW	6	97,272,627 (GRCm39)	missense	possibly damaging	0.94
R4793:Frmd4b	UTSW	6	97,272,822 (GRCm39)	missense	probably damaging	0.99
R4940:Frmd4b	UTSW	6	97,275,051 (GRCm39)	missense	probably damaging	1.00
R4948:Frmd4b	UTSW	6	97,283,691 (GRCm39)	missense	probably benign	0.06
R5092:Frmd4b	UTSW	6	97,272,941 (GRCm39)	missense	probably damaging	0.98
R5119:Frmd4b	UTSW	6	97,277,275 (GRCm39)	missense	probably benign	0.03
R5289:Frmd4b	UTSW	6	97,279,309 (GRCm39)	splice site	probably null
R5610:Frmd4b	UTSW	6	97,283,752 (GRCm39)	missense	probably benign
R5690:Frmd4b	UTSW	6	97,330,164 (GRCm39)	missense	possibly damaging	0.56
R6248:Frmd4b	UTSW	6	97,436,173 (GRCm39)	missense	probably benign	0.10
R6437:Frmd4b	UTSW	6	97,273,228 (GRCm39)	missense	probably damaging	1.00
R6459:Frmd4b	UTSW	6	97,464,601 (GRCm39)	missense	probably damaging	1.00
R6825:Frmd4b	UTSW	6	97,302,437 (GRCm39)	missense	possibly damaging	0.89
R6964:Frmd4b	UTSW	6	97,282,158 (GRCm39)	missense	probably damaging	1.00
R7110:Frmd4b	UTSW	6	97,273,192 (GRCm39)	nonsense	probably null
R7154:Frmd4b	UTSW	6	97,283,707 (GRCm39)	missense	probably damaging	1.00
R7764:Frmd4b	UTSW	6	97,272,891 (GRCm39)	missense	probably damaging	1.00
R8073:Frmd4b	UTSW	6	97,283,674 (GRCm39)	missense	probably benign	0.03
R8382:Frmd4b	UTSW	6	97,282,209 (GRCm39)	missense	probably benign
R8746:Frmd4b	UTSW	6	97,269,370 (GRCm39)	missense	probably benign
R8856:Frmd4b	UTSW	6	97,269,359 (GRCm39)	nonsense	probably null
R8881:Frmd4b	UTSW	6	97,272,735 (GRCm39)	missense	probably benign	0.00
R8885:Frmd4b	UTSW	6	97,389,480 (GRCm39)	missense	probably benign	0.01
R8907:Frmd4b	UTSW	6	97,273,046 (GRCm39)	missense	probably damaging	1.00
R8975:Frmd4b	UTSW	6	97,283,477 (GRCm39)	missense	possibly damaging	0.46
R9032:Frmd4b	UTSW	6	97,269,334 (GRCm39)	missense	probably benign	0.00
R9085:Frmd4b	UTSW	6	97,269,334 (GRCm39)	missense	probably benign	0.00
R9094:Frmd4b	UTSW	6	97,398,559 (GRCm39)	missense
R9429:Frmd4b	UTSW	6	97,279,252 (GRCm39)	missense	probably damaging	1.00
X0020:Frmd4b	UTSW	6	97,282,326 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2015-11-11