Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Mrpl23'

185415

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl23

Ensembl Gene

ENSMUSG00000037772

Gene Name

mitochondrial ribosomal protein L23

Synonyms

L23mrp, Rpl23l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

142086423-142094484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142094319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 76 (P76S)

Ref Sequence

ENSEMBL: ENSMUSP00000147311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038675] [ENSMUST00000210662] [ENSMUST00000210803]

AlphaFold

O35972

Predicted Effect

probably benign
Transcript: ENSMUST00000038675
AA Change: P121S

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

SMART Domains

Protein: ENSMUSP00000039784
Gene: ENSMUSG00000037772
AA Change: P121S

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L23	29	107	1.3e-15	PFAM
low complexity region	116	133	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209576

Predicted Effect

probably benign
Transcript: ENSMUST00000210662
AA Change: P147S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210803
AA Change: P76S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,931,193 (GRCm39)	D3E	probably benign	Het
Atp4a	A	G	7: 30,414,454 (GRCm39)	Y159C	probably damaging	Het
Card10	A	G	15: 78,662,415 (GRCm39)	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,188,002 (GRCm39)	V279A	probably damaging	Het
Cndp1	G	A	18: 84,652,751 (GRCm39)	R136W	probably damaging	Het
Eif2b3	A	G	4: 116,885,608 (GRCm39)	E50G	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Eva1c	C	T	16: 90,663,163 (GRCm39)	Q67*	probably null	Het
Exoc1	A	G	5: 76,689,967 (GRCm39)	E169G	probably damaging	Het
Fsd2	T	A	7: 81,190,172 (GRCm39)	K537*	probably null	Het
Gbf1	T	G	19: 46,267,697 (GRCm39)	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,583,617 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,486,609 (GRCm39)		probably benign	Het
Hdac6	A	C	X: 7,809,878 (GRCm39)		probably null	Het
Ivns1abp	T	A	1: 151,227,324 (GRCm39)	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,790,494 (GRCm39)		probably null	Het
Kdm2b	A	G	5: 123,021,404 (GRCm39)	I58T	probably damaging	Het
Nbea	A	G	3: 55,625,308 (GRCm39)	I2261T	possibly damaging	Het
Oasl1	G	A	5: 115,061,651 (GRCm39)	V61M	probably damaging	Het
Or4g7	T	A	2: 111,309,614 (GRCm39)	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,908,046 (GRCm39)	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,340,639 (GRCm39)	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,503,624 (GRCm39)	T66A	probably benign	Het
Prss55	A	G	14: 64,313,192 (GRCm39)	Y231H	possibly damaging	Het
Psmb10	T	C	8: 106,664,343 (GRCm39)	T38A	probably damaging	Het
Rfx5	A	G	3: 94,865,792 (GRCm39)	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,642,610 (GRCm39)	N107S	probably benign	Het
Seh1l	A	G	18: 67,920,328 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,277,660 (GRCm39)		probably null	Het
Sod1	T	A	16: 90,022,126 (GRCm39)	H111Q	probably benign	Het
Thbs2	A	T	17: 14,900,176 (GRCm39)	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526 (GRCm39)	A740V	probably damaging	Het
Tra2a	A	G	6: 49,226,032 (GRCm39)	V136A	possibly damaging	Het
Utp18	T	C	11: 93,772,967 (GRCm39)	D158G	probably benign	Het
Zfp524	A	G	7: 5,020,871 (GRCm39)	E133G	probably damaging	Het

Other mutations in Mrpl23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Mrpl23	APN	7	142,089,802 (GRCm39)	splice site	probably benign
IGL02350:Mrpl23	APN	7	142,089,802 (GRCm39)	splice site	probably benign
IGL02357:Mrpl23	APN	7	142,089,802 (GRCm39)	splice site	probably benign
R0166:Mrpl23	UTSW	7	142,088,851 (GRCm39)	missense	probably damaging	1.00
R5420:Mrpl23	UTSW	7	142,089,874 (GRCm39)	missense	probably damaging	1.00
R6569:Mrpl23	UTSW	7	142,088,776 (GRCm39)	missense	probably damaging	1.00
R7477:Mrpl23	UTSW	7	142,091,018 (GRCm39)	missense	possibly damaging	0.95
R9500:Mrpl23	UTSW	7	142,089,859 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07