Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01563:Rps19bp1'

90887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps19bp1

Ensembl Gene

ENSMUSG00000051518

Gene Name

ribosomal protein S19 binding protein 1

Synonyms

2510038A11Rik, S19BP

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

IGL01563

Quality Score

Status

Chromosome

Chromosomal Location

80144815-80148507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80145532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 84 (M84T)

Ref Sequence

ENSEMBL: ENSMUSP00000061167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052499] [ENSMUST00000109605] [ENSMUST00000229828]

AlphaFold

Q8C6B9

Predicted Effect

probably benign
Transcript: ENSMUST00000052499
AA Change: M84T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061167
Gene: ENSMUSG00000051518
AA Change: M84T

Domain	Start	End	E-Value	Type
Pfam:AROS	23	141	6.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109605

SMART Domains

Protein: ENSMUSP00000105234
Gene: ENSMUSG00000042406

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	101	121	N/A	INTRINSIC
low complexity region	246	257	N/A	INTRINSIC
BRLZ	274	338	6.16e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229962

Predicted Effect

probably benign
Transcript: ENSMUST00000230189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230434

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,604,965 (GRCm39)	E2205G	probably damaging	Het
Arid2	G	A	15: 96,270,278 (GRCm39)	V1464I	probably damaging	Het
Axin2	A	G	11: 108,814,631 (GRCm39)	Q173R	probably damaging	Het
Best1	A	G	19: 9,964,099 (GRCm39)	F454L	probably benign	Het
CK137956	T	G	4: 127,864,428 (GRCm39)	K67T	possibly damaging	Het
Col14a1	G	A	15: 55,351,337 (GRCm39)	G1555R	unknown	Het
Csad	G	A	15: 102,095,598 (GRCm39)	S153F	probably damaging	Het
Cyp4f40	A	T	17: 32,892,930 (GRCm39)	D315V	probably damaging	Het
Galnt3	G	A	2: 65,928,101 (GRCm39)	A265V	probably damaging	Het
Gm5901	C	A	7: 105,026,722 (GRCm39)	Y163*	probably null	Het
Golga4	A	G	9: 118,356,074 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,469,399 (GRCm39)	D138G	probably damaging	Het
Has1	A	T	17: 18,063,924 (GRCm39)		probably benign	Het
Ighv1-42	A	G	12: 114,900,804 (GRCm39)	S94P	probably damaging	Het
Katnb1	T	A	8: 95,824,787 (GRCm39)	L569Q	probably damaging	Het
Nedd1	C	T	10: 92,534,031 (GRCm39)		probably null	Het
Or2b2	A	G	13: 21,887,243 (GRCm39)	E24G	probably benign	Het
Or8c15	T	A	9: 38,120,997 (GRCm39)	I214N	probably damaging	Het
Pdcd4	G	A	19: 53,917,552 (GRCm39)	R463H	probably benign	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ro60	A	G	1: 143,637,120 (GRCm39)	V364A	probably benign	Het
Sass6	A	T	3: 116,398,847 (GRCm39)	D43V	probably damaging	Het
Senp6	G	A	9: 80,029,290 (GRCm39)	S551N	probably benign	Het
Sh2d2a	A	G	3: 87,759,432 (GRCm39)	E273G	probably damaging	Het
Slc16a14	T	C	1: 84,889,908 (GRCm39)		probably benign	Het
Smcr8	C	T	11: 60,674,671 (GRCm39)	R816C	possibly damaging	Het
Trappc8	A	T	18: 20,970,103 (GRCm39)	N962K	probably benign	Het
Trpc6	A	G	9: 8,656,604 (GRCm39)	E677G	probably damaging	Het
Ubap2	G	T	4: 41,195,998 (GRCm39)	P961T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vps41	T	C	13: 18,966,897 (GRCm39)		probably benign	Het
Vwf	A	T	6: 125,568,128 (GRCm39)	D341V	probably damaging	Het
Zfp618	C	T	4: 62,998,133 (GRCm39)	P45L	probably benign	Het

Other mutations in Rps19bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Rps19bp1	APN	15	80,145,198 (GRCm39)	missense	probably damaging	1.00
R1257:Rps19bp1	UTSW	15	80,145,250 (GRCm39)	utr 3 prime	probably benign
R1783:Rps19bp1	UTSW	15	80,145,250 (GRCm39)	utr 3 prime	probably benign
R1918:Rps19bp1	UTSW	15	80,148,280 (GRCm39)	missense	probably benign
R5512:Rps19bp1	UTSW	15	80,145,250 (GRCm39)	utr 3 prime	probably benign
R6565:Rps19bp1	UTSW	15	80,145,250 (GRCm39)	utr 3 prime	probably benign

Posted On

2013-12-09