Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01746:Rps19bp1'

153008

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 #

IGL01746

Quality Score

Status

Chromosome

Chromosomal Location

80144815-80148507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80145198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 140 (Y140C)

Ref Sequence

ENSEMBL: ENSMUSP00000061167 (fasta)

Gene Model

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

AlphaFold

Q8C6B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000052499
AA Change: Y140C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061167
Gene: ENSMUSG00000051518
AA Change: Y140C

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,982,276 (GRCm39)	M1187V	possibly damaging	Het
Ctsm	T	C	13: 61,687,630 (GRCm39)	E76G	probably benign	Het
Ctsm	T	C	13: 61,686,717 (GRCm39)		probably benign	Het
Egfl8	T	C	17: 34,833,890 (GRCm39)	T63A	probably damaging	Het
Fat4	T	A	3: 39,045,880 (GRCm39)	C3966*	probably null	Het
Fsd2	T	C	7: 81,202,755 (GRCm39)	T275A	probably benign	Het
Fyb2	A	T	4: 104,802,404 (GRCm39)	H102L	probably benign	Het
Galnt9	T	C	5: 110,736,188 (GRCm39)	I168T	probably damaging	Het
Hc	A	G	2: 34,947,338 (GRCm39)	Y59H	probably damaging	Het
Khnyn	T	C	14: 56,124,439 (GRCm39)	V231A	probably benign	Het
Larp4b	T	A	13: 9,208,160 (GRCm39)	V378E	probably damaging	Het
Lbx1	A	T	19: 45,222,214 (GRCm39)	S270T	possibly damaging	Het
Mcm6	G	A	1: 128,281,261 (GRCm39)	R101*	probably null	Het
Mcph1	T	C	8: 18,721,143 (GRCm39)	L657P	probably damaging	Het
Ndst2	G	T	14: 20,779,482 (GRCm39)	P253T	probably benign	Het
Nek4	G	A	14: 30,699,541 (GRCm39)		probably null	Het
Nsd1	T	A	13: 55,424,328 (GRCm39)		probably null	Het
Oc90	A	G	15: 65,761,250 (GRCm39)		probably benign	Het
Plcl2	T	A	17: 50,914,724 (GRCm39)	S578T	probably benign	Het
Ranbp3l	T	A	15: 9,063,167 (GRCm39)	C325*	probably null	Het
Sec62	T	A	3: 30,868,395 (GRCm39)	I208K	probably benign	Het
Slc25a48	T	A	13: 56,618,166 (GRCm39)	F268I	probably damaging	Het
Slc35e3	T	C	10: 117,580,807 (GRCm39)	T166A	possibly damaging	Het
Tmem253	G	A	14: 52,254,614 (GRCm39)	W23*	probably null	Het
Tmem97	T	C	11: 78,433,586 (GRCm39)	Y103C	probably damaging	Het
Traf6	A	G	2: 101,527,237 (GRCm39)	E329G	possibly damaging	Het
Ttll12	A	G	15: 83,462,877 (GRCm39)	F530L	probably damaging	Het
Ugt3a1	C	T	15: 9,361,754 (GRCm39)	P177S	probably damaging	Het
Veph1	T	C	3: 66,065,508 (GRCm39)	T520A	probably benign	Het
Vmn2r98	T	A	17: 19,286,713 (GRCm39)	Y404N	probably damaging	Het

Other mutations in Rps19bp1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01563:Rps19bp1	APN	15	80,145,532 (GRCm39)	missense	probably benign
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

2014-02-04