Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03350:Rad23a'

419687

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?

Possibly non essential (E-score: 0.282) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

85561540-85567361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85564108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 265 (E265G)

Ref Sequence

ENSEMBL: ENSMUSP00000115664 (fasta)

Gene Model

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

AlphaFold

P54726

Predicted Effect

probably benign
Transcript: ENSMUST00000003911
AA Change: E264G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003911
Gene: ENSMUSG00000003813
AA Change: E264G

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

possibly damaging
Transcript: ENSMUST00000109761
AA Change: E265G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105383
Gene: ENSMUSG00000003813
AA Change: E265G

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: E265G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115664
Gene: ENSMUSG00000003813
AA Change: E265G

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

unknown
Transcript: ENSMUST00000144675
AA Change: E78G

SMART Domains

Protein: ENSMUSP00000114431
Gene: ENSMUSG00000003813
AA Change: E78G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144994

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,022,589 (GRCm39)	Y300*	probably null	Het
Adgre1	T	A	17: 57,708,908 (GRCm39)	V33E	probably benign	Het
AI987944	A	G	7: 41,042,661 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,420,292 (GRCm39)	L813P	probably damaging	Het
Blmh	A	G	11: 76,862,774 (GRCm39)	N396D	probably damaging	Het
Brat1	T	C	5: 140,691,750 (GRCm39)	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,599,615 (GRCm39)	I810T	possibly damaging	Het
Clec2m	C	A	6: 129,307,986 (GRCm39)	V28L	probably benign	Het
Cyp2a22	T	C	7: 26,634,279 (GRCm39)	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,674,420 (GRCm39)	T280I	probably benign	Het
Fa2h	C	T	8: 112,075,928 (GRCm39)	V232I	probably benign	Het
Fbxw24	T	C	9: 109,436,081 (GRCm39)	D317G	probably damaging	Het
Flt4	C	A	11: 49,525,620 (GRCm39)	S722*	probably null	Het
Fryl	T	C	5: 73,290,649 (GRCm39)	Q85R	probably damaging	Het
Gm3239	A	G	14: 15,882,083 (GRCm39)	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,554,717 (GRCm39)	S456R	probably damaging	Het
Htr1b	T	C	9: 81,514,175 (GRCm39)	Y144C	probably damaging	Het
Hydin	A	G	8: 111,038,856 (GRCm39)	H198R	possibly damaging	Het
Krt78	A	T	15: 101,854,952 (GRCm39)	M953K	probably benign	Het
Lgr5	G	T	10: 115,307,893 (GRCm39)	T255K	probably damaging	Het
Lrp2	T	A	2: 69,268,797 (GRCm39)	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,345,201 (GRCm39)	D342G	probably damaging	Het
Miip	A	G	4: 147,946,979 (GRCm39)	V258A	probably benign	Het
Muc6	T	C	7: 141,238,324 (GRCm39)	H52R	probably damaging	Het
Nfs1	T	C	2: 155,969,660 (GRCm39)	E329G	probably benign	Het
Npsr1	T	C	9: 24,009,605 (GRCm39)	V37A	probably benign	Het
Or1ak2	T	C	2: 36,827,595 (GRCm39)	Y155H	probably damaging	Het
Or1e17	A	T	11: 73,831,664 (GRCm39)	L197F	probably damaging	Het
Or5aq1b	A	C	2: 86,901,904 (GRCm39)	D191E	probably damaging	Het
Pex16	T	A	2: 92,207,842 (GRCm39)	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,285,517 (GRCm39)	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,588,460 (GRCm39)	D103V	probably damaging	Het
Pnpla1	A	G	17: 29,095,966 (GRCm39)	D129G	probably damaging	Het
Rbm11	C	T	16: 75,397,696 (GRCm39)	P209S	probably benign	Het
Ribc2	T	A	15: 85,019,703 (GRCm39)	W162R	probably damaging	Het
Rnf4	A	G	5: 34,504,204 (GRCm39)	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,320,154 (GRCm39)	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,291,558 (GRCm39)	Y240F	probably benign	Het
Sorbs2	C	T	8: 46,258,844 (GRCm39)	P1047L	probably damaging	Het
Ttn	T	C	2: 76,580,166 (GRCm39)	I23576V	probably damaging	Het
Usp24	T	G	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Wee2	T	C	6: 40,426,665 (GRCm39)	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188 (GRCm39)	T126A	probably benign	Het
Zpld1	A	G	16: 55,061,692 (GRCm39)		probably benign	Het
Zup1	G	A	10: 33,804,107 (GRCm39)	R456C	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
IGL01974:Rad23a	APN	8	85,565,568 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02