Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01974:Rad23a'

181678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad23a

Ensembl Gene

ENSMUSG00000003813

Gene Name

RAD23 homolog A, nucleotide excision repair protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

IGL01974

Quality Score

Status

Chromosome

Chromosomal Location

85561540-85567361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85565568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 30 (E30G)

Ref Sequence

ENSEMBL: ENSMUSP00000003911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003911] [ENSMUST00000003912] [ENSMUST00000036734] [ENSMUST00000109761] [ENSMUST00000128035]

AlphaFold

P54726

Predicted Effect

probably damaging
Transcript: ENSMUST00000003911
AA Change: E30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003911
Gene: ENSMUSG00000003813
AA Change: E30G

Domain	Start	End	E-Value	Type
UBQ	3	77	3.28e-23	SMART
low complexity region	123	151	N/A	INTRINSIC
UBA	163	200	8.76e-11	SMART
STI1	229	272	5.7e-8	SMART
low complexity region	296	307	N/A	INTRINSIC
UBA	319	356	9.11e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000003912

SMART Domains

Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Calreticulin	23	258	2.7e-64	PFAM
Pfam:Calreticulin	257	332	3.3e-24	PFAM
low complexity region	358	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036734

SMART Domains

Protein: ENSMUSP00000037783
Gene: ENSMUSG00000033751

Domain	Start	End	E-Value	Type
Pfam:CR6_interact	1	211	1.5e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109761
AA Change: E30G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105383
Gene: ENSMUSG00000003813
AA Change: E30G

Domain	Start	End	E-Value	Type
UBQ	3	77	3.28e-23	SMART
low complexity region	123	151	N/A	INTRINSIC
UBA	163	200	8.76e-11	SMART
STI1	230	273	5.7e-8	SMART
low complexity region	297	308	N/A	INTRINSIC
UBA	320	357	9.11e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125711

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128035
AA Change: E30G

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115664
Gene: ENSMUSG00000003813
AA Change: E30G

Domain	Start	End	E-Value	Type
UBQ	3	77	3.28e-23	SMART
low complexity region	123	151	N/A	INTRINSIC
UBA	163	200	8.76e-11	SMART
STI1	230	273	5.7e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144994

Predicted Effect

probably benign
Transcript: ENSMUST00000144675

SMART Domains

Protein: ENSMUSP00000114431
Gene: ENSMUSG00000003813

Domain	Start	End	E-Value	Type
SCOP:d1ifya_	2	18	3e-3	SMART
STI1	44	87	5.7e-8	SMART
low complexity region	111	122	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice with a targeted disruption of this gene show no obvious phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,762 (GRCm39)	D1401G	possibly damaging	Het
Adamts2	G	A	11: 50,667,001 (GRCm39)	G433S	probably damaging	Het
Cacna2d2	A	C	9: 107,394,621 (GRCm39)	S598R	probably benign	Het
Cdkl3	A	G	11: 51,902,064 (GRCm39)	Q91R	probably damaging	Het
Celf2	T	C	2: 6,608,842 (GRCm39)	Y313C	probably damaging	Het
Clint1	C	A	11: 45,799,862 (GRCm39)	N558K	probably benign	Het
Dcbld1	A	G	10: 52,180,777 (GRCm39)	H147R	probably benign	Het
Ednrb	A	C	14: 104,058,254 (GRCm39)	Y350D	probably damaging	Het
Elp2	C	T	18: 24,759,260 (GRCm39)	P539L	probably damaging	Het
Fam217b	G	A	2: 178,063,020 (GRCm39)	R328Q	probably damaging	Het
Gm9991	G	T	1: 90,603,197 (GRCm39)		noncoding transcript	Het
Herc4	T	G	10: 63,135,020 (GRCm39)		probably null	Het
Hus1	T	C	11: 8,950,088 (GRCm39)	N211S	possibly damaging	Het
Immt	A	G	6: 71,849,842 (GRCm39)	D454G	probably damaging	Het
Itga4	G	A	2: 79,103,471 (GRCm39)		probably benign	Het
Kank1	A	T	19: 25,387,596 (GRCm39)	N423I	possibly damaging	Het
Kynu	T	A	2: 43,571,352 (GRCm39)		probably benign	Het
Mycbp2	A	C	14: 103,380,647 (GRCm39)	S3670A	possibly damaging	Het
Ndufv3	T	C	17: 31,740,583 (GRCm39)	V30A	probably benign	Het
Or8k17	G	T	2: 86,066,304 (GRCm39)	L292I	probably benign	Het
Per2	C	T	1: 91,351,440 (GRCm39)	R1022Q	probably benign	Het
Ropn1l	T	A	15: 31,449,255 (GRCm39)	Y91F	probably benign	Het
Sertad4	C	A	1: 192,529,274 (GRCm39)	E181*	probably null	Het
Styxl2	A	T	1: 165,928,105 (GRCm39)	C502*	probably null	Het
Tnfrsf1b	G	A	4: 144,942,421 (GRCm39)	P454L	probably damaging	Het
Ttbk2	G	A	2: 120,616,564 (GRCm39)	R110W	probably damaging	Het
Usp17le	G	T	7: 104,417,642 (GRCm39)	S500Y	probably benign	Het

Other mutations in Rad23a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Rad23a	APN	8	85,562,524 (GRCm39)	missense	probably damaging	1.00
IGL03350:Rad23a	APN	8	85,564,108 (GRCm39)	missense	possibly damaging	0.80
R3620:Rad23a	UTSW	8	85,567,193 (GRCm39)	start codon destroyed	probably null	1.00
R5967:Rad23a	UTSW	8	85,565,568 (GRCm39)	missense	probably damaging	1.00
R6281:Rad23a	UTSW	8	85,564,739 (GRCm39)	missense	probably damaging	1.00
R7577:Rad23a	UTSW	8	85,565,108 (GRCm39)	missense	probably benign
R9630:Rad23a	UTSW	8	85,564,919 (GRCm39)	missense	probably benign	0.10
X0028:Rad23a	UTSW	8	85,565,515 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07