Mutagenetix > Incidental Mutation

Incidental Mutation 'R1768:Frmd4b'

194566

Institutional Source

Beutler Lab

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

GRSP1, 6030440G05Rik

MMRRC Submission

039799-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97263828-97594502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97283725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 374 (L374Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108982 (fasta)

Gene Model

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

AlphaFold

Q920B0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032146
AA Change: L428Q

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: L428Q

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: L374Q

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: L374Q

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: L382Q

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: L382Q

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

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

91% (107/117)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,623,470 (GRCm39)	R60P	possibly damaging	Het
Aox1	T	A	1: 58,393,354 (GRCm39)	C1199S	probably benign	Het
Arhgap18	G	A	10: 26,763,857 (GRCm39)	M482I	probably damaging	Het
Arhgap18	G	T	10: 26,763,858 (GRCm39)	A483S	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
BC051019	T	C	7: 109,322,381 (GRCm39)	T38A	probably benign	Het
Bcam	T	C	7: 19,499,543 (GRCm39)	N192S	probably null	Het
Bend5	A	T	4: 111,311,438 (GRCm39)	K351*	probably null	Het
Bicdl2	T	A	17: 23,884,923 (GRCm39)	M208K	probably damaging	Het
Ccp110	A	T	7: 118,325,247 (GRCm39)		probably null	Het
Cdc6	A	T	11: 98,803,043 (GRCm39)	T328S	probably damaging	Het
Cdk5rap2	G	T	4: 70,225,470 (GRCm39)	N558K	probably benign	Het
Cdkn1c	C	T	7: 143,012,858 (GRCm39)	R146K	probably benign	Het
Ceacam18	G	A	7: 43,297,918 (GRCm39)	C371Y	probably benign	Het
Cep95	T	A	11: 106,697,177 (GRCm39)	C233*	probably null	Het
Chrnd	A	G	1: 87,122,650 (GRCm39)	I144V	probably benign	Het
Col6a4	T	A	9: 105,957,299 (GRCm39)	Q175L	probably benign	Het
Cym	A	T	3: 107,120,816 (GRCm39)	V263E	probably damaging	Het
Cyp2a4	G	T	7: 26,012,197 (GRCm39)	V327F	possibly damaging	Het
Dhx29	T	A	13: 113,084,774 (GRCm39)	M664K	probably damaging	Het
Dlec1	T	G	9: 118,975,075 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,792,863 (GRCm39)	Y293H	probably benign	Het
Dnase1l3	T	A	14: 7,974,104 (GRCm38)	N196Y	probably damaging	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Efcab14	A	T	4: 115,610,116 (GRCm39)		probably null	Het
Entpd5	C	T	12: 84,432,985 (GRCm39)	R189H	probably benign	Het
Exoc4	A	T	6: 33,734,985 (GRCm39)	K534M	probably damaging	Het
Extl1	T	A	4: 134,098,449 (GRCm39)	Y194F	probably benign	Het
Eya1	A	G	1: 14,323,299 (GRCm39)	L161S	possibly damaging	Het
Fam163b	T	C	2: 27,002,874 (GRCm39)	E41G	possibly damaging	Het
Fam180a	A	C	6: 35,292,287 (GRCm39)	S40A	probably benign	Het
Fbxl4	T	C	4: 22,385,950 (GRCm39)	S186P	probably benign	Het
Fbxw19	A	T	9: 109,323,840 (GRCm39)	L45*	probably null	Het
Fgf14	G	T	14: 124,913,924 (GRCm39)	T69N	probably benign	Het
Flt1	A	G	5: 147,609,519 (GRCm39)	Y432H	probably damaging	Het
G6pc2	T	A	2: 69,053,321 (GRCm39)	V125D	probably damaging	Het
Gm10033	T	C	8: 69,826,210 (GRCm39)	I119M	unknown	Het
Gna15	A	T	10: 81,347,954 (GRCm39)	L164Q	probably damaging	Het
Gnaz	C	A	10: 74,827,702 (GRCm39)	D151E	possibly damaging	Het
Has1	T	C	17: 18,070,562 (GRCm39)	T120A	probably benign	Het
Hectd4	T	A	5: 121,496,366 (GRCm39)	D3919E	possibly damaging	Het
Hs3st5	A	G	10: 36,709,165 (GRCm39)	I233M	probably benign	Het
Ilf3	T	C	9: 21,314,438 (GRCm39)		probably benign	Het
Inpp5b	T	A	4: 124,687,069 (GRCm39)	L765*	probably null	Het
Insr	A	T	8: 3,209,561 (GRCm39)	I1174N	probably damaging	Het
Kash5	T	A	7: 44,838,227 (GRCm39)		probably null	Het
Kcnq3	A	G	15: 65,877,755 (GRCm39)	L445P	probably damaging	Het
Kctd20	A	T	17: 29,181,824 (GRCm39)	N159Y	probably damaging	Het
Kctd20	A	T	17: 29,185,755 (GRCm39)	D366V	probably damaging	Het
Klk15	T	C	7: 43,587,757 (GRCm39)		probably benign	Het
Lama4	T	G	10: 38,979,497 (GRCm39)	N1658K	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mas1	T	C	17: 13,060,586 (GRCm39)	Y279C	probably damaging	Het
Mast2	G	T	4: 116,164,156 (GRCm39)	D1747E	probably damaging	Het
Mest	G	A	6: 30,745,138 (GRCm39)	M235I	probably benign	Het
Mfsd6	A	G	1: 52,699,964 (GRCm39)		probably null	Het
Mllt10	T	A	2: 18,167,657 (GRCm39)	S449R	probably damaging	Het
Mon2	T	A	10: 122,849,668 (GRCm39)	T1211S	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Myh15	A	T	16: 48,983,498 (GRCm39)	T1538S	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Npy1r	A	G	8: 67,157,177 (GRCm39)	D199G	possibly damaging	Het
Numbl	A	G	7: 26,980,379 (GRCm39)	T454A	probably benign	Het
Nutm2	T	G	13: 50,627,152 (GRCm39)	F436V	probably damaging	Het
Opa1	T	C	16: 29,439,628 (GRCm39)	S773P	probably benign	Het
Or12e1	T	A	2: 87,022,042 (GRCm39)	S4T	probably benign	Het
Or2d3	A	T	7: 106,491,184 (GRCm39)		probably null	Het
Or2d3	G	T	7: 106,491,185 (GRCm39)	L44M	probably damaging	Het
Or2r11	A	G	6: 42,437,611 (GRCm39)	L114S	probably damaging	Het
Or2t48	A	G	11: 58,420,602 (GRCm39)	L70P	probably damaging	Het
Or51b17	A	G	7: 103,542,484 (GRCm39)	S153P	probably benign	Het
Or51m1	C	T	7: 103,578,932 (GRCm39)	R301*	probably null	Het
Or52e7	A	G	7: 104,685,157 (GRCm39)	S251G	probably benign	Het
Or52i2	A	G	7: 102,319,508 (GRCm39)	Y127C	probably damaging	Het
Or8b12c	T	A	9: 37,715,599 (GRCm39)	Y131N	probably damaging	Het
Pde8a	G	C	7: 80,950,471 (GRCm39)		probably null	Het
Pgam1	T	C	19: 41,906,144 (GRCm39)	F232S	probably damaging	Het
Pgk1	T	A	X: 105,243,914 (GRCm39)	V303E	possibly damaging	Het
Pirb	A	T	7: 3,720,189 (GRCm39)	C395S	probably damaging	Het
Plxnc1	C	T	10: 94,680,184 (GRCm39)	V824I	probably benign	Het
Ppp6r1	A	G	7: 4,636,691 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,056,131 (GRCm39)		probably benign	Het
Rars1	T	A	11: 35,700,465 (GRCm39)	T539S	probably damaging	Het
Rbm44	G	T	1: 91,081,679 (GRCm39)		probably null	Het
Samd4b	A	G	7: 28,113,317 (GRCm39)	I216T	probably benign	Het
Serpine2	A	C	1: 79,794,532 (GRCm39)	F134V	probably damaging	Het
Shmt1	A	G	11: 60,683,790 (GRCm39)	Y341H	probably damaging	Het
Slc23a2	C	A	2: 131,917,561 (GRCm39)	V226F	probably benign	Het
Slc23a4	A	G	6: 34,933,896 (GRCm39)	I69T	probably damaging	Het
Slc37a1	C	A	17: 31,552,652 (GRCm39)	T319K	possibly damaging	Het
Slc6a4	A	T	11: 76,904,078 (GRCm39)	T178S	probably damaging	Het
Smarca4	G	A	9: 21,612,479 (GRCm39)	A1588T	possibly damaging	Het
Spag17	A	T	3: 99,934,668 (GRCm39)	Y650F	possibly damaging	Het
Stab2	C	T	10: 86,838,872 (GRCm39)	G65S	probably damaging	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Stip1	C	A	19: 6,999,165 (GRCm39)	C471F	probably damaging	Het
Taf1	T	C	X: 100,584,500 (GRCm39)	S223P	probably benign	Het
Tchh	C	A	3: 93,350,882 (GRCm39)	N107K	possibly damaging	Het
Tenm3	A	C	8: 48,685,139 (GRCm39)	H2432Q	probably damaging	Het
Tmem243	A	G	5: 9,168,548 (GRCm39)	N110S	probably damaging	Het
Toe1	A	T	4: 116,662,076 (GRCm39)	I306F	probably benign	Het
Trank1	G	A	9: 111,221,995 (GRCm39)	V2911M	probably damaging	Het
Trpm4	A	G	7: 44,958,036 (GRCm39)	I811T	probably damaging	Het
Tspear	T	A	10: 77,710,950 (GRCm39)		probably null	Het
Ttc28	A	T	5: 111,425,034 (GRCm39)	I1589F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,686 (GRCm39)		probably benign	Het
U2af2	C	A	7: 5,070,544 (GRCm39)	R78S	probably benign	Het
Wdr17	A	T	8: 55,126,689 (GRCm39)	D388E	possibly damaging	Het
Wdr3	A	T	3: 100,061,186 (GRCm39)	S261T	probably benign	Het
Zfp667	A	G	7: 6,308,066 (GRCm39)	N245D	possibly damaging	Het
Zfp692	A	G	11: 58,201,002 (GRCm39)		probably benign	Het
Zfp729a	T	C	13: 67,767,370 (GRCm39)	H953R	probably benign	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
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
R4735:Frmd4b	UTSW	6	97,436,220 (GRCm39)	start gained	probably benign
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

PCR Primer
(F):5'- ACCATCATACCTCCTCAGTAGGCAG -3'
(R):5'- ATGACTCAGCCACGAAGTGCAG -3'

Sequencing Primer
(F):5'- CCTCAGTAGGCAGTAAGTTGTCATC -3'
(R):5'- GCAGGAGACATTTTCTTACCAGG -3'

Posted On

2014-05-23