Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03033:Rpl23a'

408514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl23a

Ensembl Gene

ENSMUSG00000058546

Gene Name

ribosomal protein L23A

Synonyms

MDA20

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03033

Quality Score

Status

Chromosome

Chromosomal Location

78071761-78074410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78072408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 74 (Y74C)

Ref Sequence

ENSEMBL: ENSMUSP00000099541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000092880] [ENSMUST00000098545] [ENSMUST00000102483] [ENSMUST00000148154] [ENSMUST00000147819] [ENSMUST00000108338] [ENSMUST00000127587]

AlphaFold

P62751

Predicted Effect

probably benign
Transcript: ENSMUST00000017549

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405

Domain	Start	End	E-Value	Type
S_TKc	4	258	1.59e-81	SMART
low complexity region	288	316	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
Pfam:RCC1	415	464	4.1e-12	PFAM
Pfam:RCC1_2	451	480	9.2e-10	PFAM
Pfam:RCC1	467	516	9.9e-16	PFAM
Pfam:RCC1	585	634	4.4e-15	PFAM
Pfam:RCC1	637	687	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083742

Predicted Effect

probably benign
Transcript: ENSMUST00000092880

SMART Domains

Protein: ENSMUSP00000090556
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
TLC	28	217	1.19e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098545

SMART Domains

Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
TLC	40	207	5.98e-33	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102483
AA Change: Y74C

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099541
Gene: ENSMUSG00000058546
AA Change: Y74C

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L23eN	15	68	9.7e-26	PFAM
Pfam:Ribosomal_L23	74	153	1.8e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127270

Predicted Effect

probably benign
Transcript: ENSMUST00000148154

SMART Domains

Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	103	4.1e-20	PFAM
Pfam:Pkinase_Tyr	1	103	3.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147819

SMART Domains

Protein: ENSMUSP00000126593
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
Pfam:TRAM_LAG1_CLN8	33	103	4.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108338

SMART Domains

Protein: ENSMUSP00000103975
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
Pfam:TRAM_LAG1_CLN8	44	122	3.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127587

SMART Domains

Protein: ENSMUSP00000114202
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
TLC	40	234	1.41e-52	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,452 (GRCm39)	T566S	probably benign	Het
Ap3b1	A	G	13: 94,585,003 (GRCm39)	T405A	probably benign	Het
Bicd2	G	T	13: 49,533,396 (GRCm39)	V587L	probably benign	Het
Bsn	A	T	9: 107,993,192 (GRCm39)	D853E	probably damaging	Het
Cacna1i	C	A	15: 80,246,440 (GRCm39)	N611K	probably damaging	Het
Capn11	A	G	17: 45,953,473 (GRCm39)	L227P	probably damaging	Het
Copb2	A	G	9: 98,452,426 (GRCm39)	N70S	probably benign	Het
Ddb1	T	C	19: 10,603,290 (GRCm39)	V866A	possibly damaging	Het
Dst	A	G	1: 34,208,826 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,551 (GRCm39)	Y117C	probably damaging	Het
Esyt1	T	G	10: 128,352,252 (GRCm39)	R758S	probably benign	Het
Gm20441	A	G	10: 75,607,326 (GRCm39)	F55S	probably damaging	Het
Gm20547	A	T	17: 35,078,492 (GRCm39)	M362K	probably damaging	Het
Gucy1b2	A	G	14: 62,653,393 (GRCm39)	V334A	probably benign	Het
Hnrnph3	A	T	10: 62,853,958 (GRCm39)	F53L	probably benign	Het
Kcnk18	C	T	19: 59,223,616 (GRCm39)	P254S	probably benign	Het
Lrfn5	T	A	12: 61,886,833 (GRCm39)	L207Q	probably damaging	Het
Lrp3	T	C	7: 34,902,052 (GRCm39)	M589V	possibly damaging	Het
Nlrp1b	A	G	11: 71,052,665 (GRCm39)	V918A	probably benign	Het
Nsg2	A	G	11: 31,951,836 (GRCm39)	T29A	probably damaging	Het
Or51b4	T	A	7: 103,530,724 (GRCm39)	H242L	probably damaging	Het
Pank4	C	T	4: 155,059,172 (GRCm39)	T435I	probably damaging	Het
Prom1	C	T	5: 44,163,502 (GRCm39)		probably null	Het
Prr14	G	T	7: 127,071,135 (GRCm39)	L3F	probably damaging	Het
Rfx7	A	T	9: 72,440,271 (GRCm39)		probably benign	Het
Rhbdl3	A	G	11: 80,237,653 (GRCm39)	N295S	probably damaging	Het
Ripk3	A	G	14: 56,024,622 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,269,092 (GRCm39)	N310I	possibly damaging	Het
Rtp3	A	T	9: 110,815,162 (GRCm39)		probably benign	Het
Sbno1	A	T	5: 124,514,213 (GRCm39)	N1326K	probably damaging	Het
Sepsecs	T	C	5: 52,818,018 (GRCm39)	N253S	probably damaging	Het
Setd2	A	C	9: 110,380,343 (GRCm39)	E1386A	possibly damaging	Het
Sf3b3	T	C	8: 111,537,596 (GRCm39)	I1211V	possibly damaging	Het
Sh3tc2	G	A	18: 62,107,549 (GRCm39)	V187M	possibly damaging	Het
Slc30a6	G	T	17: 74,716,373 (GRCm39)	E136*	probably null	Het
Sptan1	T	A	2: 29,881,045 (GRCm39)	V438E	probably damaging	Het
Stab2	A	G	10: 86,832,667 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,635 (GRCm39)		probably benign	Het
Tmem198	A	G	1: 75,459,612 (GRCm39)	D189G	possibly damaging	Het
Tnfrsf8	C	A	4: 145,019,219 (GRCm39)	L205F	possibly damaging	Het
Vmn1r68	T	A	7: 10,262,074 (GRCm39)	E8V	probably damaging	Het
Wnk3	G	A	X: 150,059,924 (GRCm39)	D742N	probably damaging	Het
Xpc	A	T	6: 91,468,297 (GRCm39)		probably null	Het
Zfp113	A	T	5: 138,149,458 (GRCm39)		probably benign	Het
Zfp120	A	T	2: 149,961,794 (GRCm39)	D51E	probably benign	Het
Zfp473	C	T	7: 44,382,522 (GRCm39)	V603M	probably benign	Het

Other mutations in Rpl23a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7781:Rpl23a	UTSW	11	78,073,654 (GRCm39)	missense	probably benign	0.04
R8903:Rpl23a	UTSW	11	78,073,720 (GRCm39)	missense	probably benign	0.00
R9057:Rpl23a	UTSW	11	78,072,021 (GRCm39)	missense	probably benign	0.29

Posted On

2016-08-02