Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02187:Srp54b'

283688

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srp54b

Ensembl Gene

ENSMUSG00000112449

Gene Name

signal recognition particle 54B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL02187

Quality Score

Status

Chromosome

Chromosomal Location

55201889-55235998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55299560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 297 (M297K)

Ref Sequence

ENSEMBL: ENSMUSP00000151681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164243] [ENSMUST00000218879]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000164243
AA Change: M297K

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132835
Gene: ENSMUSG00000079108
AA Change: M297K

Domain	Start	End	E-Value	Type
SRP54_N	2	87	7.47e-19	SMART
AAA	100	277	2.15e-7	SMART
SRP54	101	296	7.25e-90	SMART
Pfam:SRP_SPB	326	431	9.2e-33	PFAM
low complexity region	490	504	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218879
AA Change: M297K

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,439,826 (GRCm39)	E922D	possibly damaging	Het
Asxl3	T	A	18: 22,658,035 (GRCm39)	M2015K	probably damaging	Het
C8a	C	A	4: 104,719,933 (GRCm39)	R15L	probably damaging	Het
Catsperg2	A	G	7: 29,420,791 (GRCm39)	V47A	probably benign	Het
Cdhr2	C	T	13: 54,881,523 (GRCm39)	T1081I	possibly damaging	Het
Cenatac	C	T	9: 44,322,084 (GRCm39)		probably benign	Het
Cep85	T	A	4: 133,858,616 (GRCm39)	M752L	possibly damaging	Het
Cxcr3	T	A	X: 100,776,483 (GRCm39)	S60C	probably damaging	Het
Cyp24a1	T	A	2: 170,336,013 (GRCm39)	N208I	probably damaging	Het
Cyp2c38	A	G	19: 39,424,649 (GRCm39)	I223T	probably benign	Het
Dennd6a	A	G	14: 26,328,081 (GRCm39)	I35V	probably benign	Het
Emb	T	G	13: 117,405,507 (GRCm39)		probably benign	Het
Fbxo3	T	C	2: 103,858,295 (GRCm39)	Y30H	probably damaging	Het
Fnbp1l	G	A	3: 122,362,449 (GRCm39)	R120*	probably null	Het
Galnt2	T	C	8: 125,032,245 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,464,768 (GRCm39)		probably benign	Het
Gpr101	A	G	X: 56,546,841 (GRCm39)	F103S	probably damaging	Het
Gprasp1	T	A	X: 134,699,912 (GRCm39)	V35E	probably damaging	Het
Ift80	C	A	3: 68,892,789 (GRCm39)	W133L	probably damaging	Het
Impdh1	C	A	6: 29,207,086 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,275,938 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,269,657 (GRCm39)		probably null	Het
Klhl20	C	T	1: 160,937,280 (GRCm39)	V32I	probably benign	Het
Lrfn3	A	G	7: 30,055,389 (GRCm39)	S519P	probably damaging	Het
Mrpl51	A	G	6: 125,170,294 (GRCm39)	N100S	probably benign	Het
Mybpc3	T	C	2: 90,965,797 (GRCm39)	I1203T	probably benign	Het
Nbr1	A	G	11: 101,460,185 (GRCm39)	I394V	possibly damaging	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Or7g34	T	A	9: 19,478,393 (GRCm39)	T96S	probably benign	Het
Pan3	T	C	5: 147,463,398 (GRCm39)	I440T	probably benign	Het
Patz1	T	C	11: 3,241,134 (GRCm39)	L174P	probably damaging	Het
Paxx	A	G	2: 25,350,668 (GRCm39)	L62P	probably damaging	Het
Plekhh1	T	C	12: 79,119,592 (GRCm39)	S972P	probably damaging	Het
Ppp1r13b	G	T	12: 111,801,472 (GRCm39)	T404K	probably damaging	Het
Prkaa2	T	C	4: 104,904,363 (GRCm39)	N238S	probably benign	Het
Prpf6	T	C	2: 181,257,809 (GRCm39)	Y94H	probably damaging	Het
Rtn4	T	C	11: 29,658,291 (GRCm39)	I815T	possibly damaging	Het
Slc44a5	A	G	3: 153,968,554 (GRCm39)	T582A	probably benign	Het
Slitrk3	A	G	3: 72,957,605 (GRCm39)	L389S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zmym4	T	A	4: 126,764,066 (GRCm39)	I1325L	probably damaging	Het
Zswim2	C	A	2: 83,753,982 (GRCm39)	R226L	probably damaging	Het

Other mutations in Srp54b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0101:Srp54b	UTSW	12	55,302,405 (GRCm39)	splice site	probably benign
R0395:Srp54b	UTSW	12	55,296,884 (GRCm39)	missense	probably damaging	1.00
R1076:Srp54b	UTSW	12	55,302,313 (GRCm39)	splice site	probably benign
R1186:Srp54b	UTSW	12	55,302,313 (GRCm39)	splice site	probably benign
R1520:Srp54b	UTSW	12	55,304,354 (GRCm39)	missense	possibly damaging	0.68
R1541:Srp54b	UTSW	12	55,302,844 (GRCm39)	missense	probably benign	0.27
R1732:Srp54b	UTSW	12	55,299,544 (GRCm39)	splice site	probably null
R1836:Srp54b	UTSW	12	55,296,945 (GRCm39)	splice site	probably null
R5344:Srp54b	UTSW	12	55,302,366 (GRCm39)	missense	probably damaging	1.00
R5841:Srp54b	UTSW	12	55,299,614 (GRCm39)	missense	probably benign	0.01
R6269:Srp54b	UTSW	12	55,302,757 (GRCm39)	missense	possibly damaging	0.94
R6417:Srp54b	UTSW	12	55,296,855 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16