Mutagenetix > Incidental Mutation

Incidental Mutation 'R1291:Rps23rg1'

150788

Institutional Source

Beutler Lab

Gene Symbol

Rps23rg1

Ensembl Gene

ENSMUSG00000065952

Gene Name

ribosomal protein S23, retrogene 1

Synonyms

C330021F23Rik

MMRRC Submission

039357-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1291 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

3617998-3634776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3633938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 13 (I13T)

Ref Sequence

ENSEMBL: ENSMUSP00000119487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057028] [ENSMUST00000086479] [ENSMUST00000136592] [ENSMUST00000151633] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000208240] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208036]

AlphaFold

Q8C7T0

Predicted Effect

probably benign
Transcript: ENSMUST00000057028

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CH	166	315	5.5e-27	PFAM
Pfam:CAMSAP_CH	214	296	1.2e-29	PFAM
low complexity region	359	373	N/A	INTRINSIC
coiled coil region	595	633	N/A	INTRINSIC
low complexity region	645	655	N/A	INTRINSIC
coiled coil region	696	727	N/A	INTRINSIC
low complexity region	749	779	N/A	INTRINSIC
low complexity region	828	837	N/A	INTRINSIC
low complexity region	866	881	N/A	INTRINSIC
coiled coil region	900	943	N/A	INTRINSIC
low complexity region	944	965	N/A	INTRINSIC
low complexity region	1002	1024	N/A	INTRINSIC
CAMSAP_CKK	1111	1240	1.29e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086479
AA Change: I37T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136628
Gene: ENSMUSG00000065952
AA Change: I37T

Domain	Start	End	E-Value	Type
transmembrane domain	104	126	N/A	INTRINSIC
low complexity region	129	140	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136592
AA Change: I37T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123235
Gene: ENSMUSG00000065952
AA Change: I37T

Domain	Start	End	E-Value	Type
transmembrane domain	104	126	N/A	INTRINSIC
low complexity region	129	140	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146939

Predicted Effect

probably damaging
Transcript: ENSMUST00000151633
AA Change: I13T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119487
Gene: ENSMUSG00000065952
AA Change: I13T

Domain	Start	End	E-Value	Type
transmembrane domain	72	94	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171962

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CAMSAP_CH	214	296	6e-31	PFAM
low complexity region	360	374	N/A	INTRINSIC
Pfam:CAMSAP_CC1	587	645	1.1e-27	PFAM
low complexity region	646	656	N/A	INTRINSIC
coiled coil region	697	728	N/A	INTRINSIC
low complexity region	750	780	N/A	INTRINSIC
low complexity region	829	838	N/A	INTRINSIC
low complexity region	867	882	N/A	INTRINSIC
coiled coil region	901	944	N/A	INTRINSIC
low complexity region	945	966	N/A	INTRINSIC
low complexity region	1003	1025	N/A	INTRINSIC
CAMSAP_CKK	1112	1241	1.29e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207077

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Predicted Effect

probably benign
Transcript: ENSMUST00000207432

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

probably benign
Transcript: ENSMUST00000207970

Predicted Effect

probably benign
Transcript: ENSMUST00000208036

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	C	A	5: 30,404,532 (GRCm39)	L301F	probably damaging	Het
Apba1	G	T	19: 23,895,036 (GRCm39)	A491S	probably damaging	Het
Bmp5	A	T	9: 75,793,955 (GRCm39)	K355*	probably null	Het
Chdh	C	T	14: 29,753,519 (GRCm39)	R143*	probably null	Het
Evc2	A	G	5: 37,544,159 (GRCm39)	E636G	probably damaging	Het
Hmcn1	T	A	1: 150,623,942 (GRCm39)	I1120F	probably damaging	Het
Lama4	A	T	10: 38,924,065 (GRCm39)	H491L	probably benign	Het
Lrp1b	A	T	2: 41,231,907 (GRCm39)	S1074T	probably benign	Het
Nell1	T	C	7: 49,879,998 (GRCm39)	V330A	probably benign	Het
Psg20	T	C	7: 18,418,599 (GRCm39)	D56G	possibly damaging	Het
Ptk2	C	T	15: 73,082,605 (GRCm39)	V951I	probably damaging	Het
Qrfprl	T	A	6: 65,429,884 (GRCm39)	Y193*	probably null	Het
Rtel1	A	G	2: 180,992,836 (GRCm39)	D632G	probably damaging	Het
Smoc1	T	C	12: 81,226,365 (GRCm39)	F397L	probably damaging	Het
Spsb3	G	T	17: 25,106,782 (GRCm39)		probably null	Het
Srp68	A	T	11: 116,154,107 (GRCm39)	L154H	probably damaging	Het
Timp3	A	G	10: 86,181,702 (GRCm39)	Y191C	probably damaging	Het
Vmn2r50	T	C	7: 9,771,404 (GRCm39)	T766A	probably damaging	Het
Ythdc2	C	T	18: 44,988,276 (GRCm39)	S28F	probably benign	Het
Ywhaz	T	C	15: 36,772,978 (GRCm39)		probably benign	Het

Other mutations in Rps23rg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Rps23rg1	APN	8	3,633,904 (GRCm39)	missense	probably benign	0.02
R4755:Rps23rg1	UTSW	8	3,633,922 (GRCm39)	missense	probably damaging	1.00
R7796:Rps23rg1	UTSW	8	3,634,160 (GRCm39)	missense	probably benign	0.00
R7835:Rps23rg1	UTSW	8	3,630,452 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CTAGGCTGCAACCCAAGTGCTG -3'
(R):5'- GTCACCGACGGGATCAGAAGTG -3'

Sequencing Primer
(F):5'- cacacacacacacacacacac -3'
(R):5'- CTGAAGGCCAATCCGTTTG -3'

Posted On

2014-01-29