Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01777:Frmd4b'

154119

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frmd4b

Ensembl Gene

ENSMUSG00000030064

Gene Name

FERM domain containing 4B

Synonyms

GRSP1, 6030440G05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01777

Quality Score

Status

Chromosome

Chromosomal Location

97263828-97594502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97272905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 783 (D783G)

Ref Sequence

ENSEMBL: ENSMUSP00000108986 (fasta)

Gene Model

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

AlphaFold

Q920B0

Predicted Effect

probably benign
Transcript: ENSMUST00000032146
AA Change: D829G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000032146
Gene: ENSMUSG00000030064
AA Change: D829G

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 benign
Transcript: ENSMUST00000113355
AA Change: D775G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108982
Gene: ENSMUSG00000030064
AA Change: D775G

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: D783G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108986
Gene: ENSMUSG00000030064
AA Change: D783G

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,205 (GRCm39)	V240A	possibly damaging	Het
Aftph	A	T	11: 20,676,554 (GRCm39)	C352S	possibly damaging	Het
Cand2	T	C	6: 115,769,818 (GRCm39)	V876A	probably damaging	Het
Ccar1	T	C	10: 62,616,356 (GRCm39)	I125V	possibly damaging	Het
Celsr3	A	T	9: 108,713,141 (GRCm39)	M1858L	probably benign	Het
Csmd3	A	T	15: 47,561,594 (GRCm39)	N2134K	probably benign	Het
Dhx29	A	G	13: 113,067,406 (GRCm39)	I96V	probably benign	Het
Dst	A	G	1: 34,238,478 (GRCm39)	T3727A	probably benign	Het
Elavl4	T	A	4: 110,063,858 (GRCm39)		probably null	Het
Eno2	C	T	6: 124,743,600 (GRCm39)	G113D	probably damaging	Het
Esf1	A	C	2: 139,999,092 (GRCm39)		probably null	Het
Grin2a	C	T	16: 9,461,994 (GRCm39)	V713I	probably benign	Het
Impa1	C	T	3: 10,388,008 (GRCm39)	G138D	probably damaging	Het
Kcnt2	A	G	1: 140,523,736 (GRCm39)	T1079A	probably benign	Het
Kmt2a	A	G	9: 44,760,302 (GRCm39)	S549P	probably damaging	Het
Magoh	C	A	4: 107,740,373 (GRCm39)	Q86K	probably benign	Het
Moxd1	C	A	10: 24,128,494 (GRCm39)	T182K	probably benign	Het
Or5p55	A	G	7: 107,566,709 (GRCm39)	Y35C	probably damaging	Het
Pramel25	T	G	4: 143,521,688 (GRCm39)	C435G	possibly damaging	Het
Rab3b	A	T	4: 108,786,607 (GRCm39)	Q119L	probably damaging	Het
Snap47	T	A	11: 59,312,477 (GRCm39)		probably null	Het
Taar3	A	G	10: 23,825,903 (GRCm39)	R150G	probably benign	Het
Tas2r102	C	T	6: 132,739,815 (GRCm39)	T241I	probably damaging	Het
Tas2r114	C	T	6: 131,666,664 (GRCm39)	W121*	probably null	Het
Trak1	G	A	9: 121,260,626 (GRCm39)		probably null	Het
Ubn1	T	C	16: 4,890,013 (GRCm39)	V426A	possibly damaging	Het
Vmn1r40	T	C	6: 89,691,204 (GRCm39)	L7P	probably benign	Het
Vmn2r43	T	C	7: 8,258,272 (GRCm39)	I314V	probably damaging	Het
Vrtn	T	G	12: 84,695,696 (GRCm39)	S149A	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
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
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

Posted On

2014-02-04