Mutagenetix > Incidental Mutation

Incidental Mutation 'R5967:Rad23a'

470668

Institutional Source

Beutler Lab

Gene Symbol

Rad23a

Ensembl Gene

ENSMUSG00000003813

Gene Name

RAD23 homolog A, nucleotide excision repair protein

Synonyms

MMRRC Submission

043248-MU

Accession Numbers

Essential gene?

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

Stock #

R5967 (G1)

Quality Score

225

Status

Not validated

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

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	A	3: 116,587,357 (GRCm39)	D66V	probably benign	Het
Agrn	G	A	4: 156,259,560 (GRCm39)	P792S	probably damaging	Het
Angptl2	A	G	2: 33,118,718 (GRCm39)	N164S	probably damaging	Het
Birc6	T	C	17: 74,967,434 (GRCm39)	F4112L	probably damaging	Het
C8b	A	G	4: 104,650,530 (GRCm39)	E446G	possibly damaging	Het
Ceacam1	C	T	7: 25,174,167 (GRCm39)	V163I	probably damaging	Het
Cngb1	T	C	8: 95,978,534 (GRCm39)	K1068R	probably damaging	Het
Gna11	A	G	10: 81,366,643 (GRCm39)	Y356H	probably benign	Het
Gnl2	A	G	4: 124,934,823 (GRCm39)	M160V	probably benign	Het
Gpsm1	A	G	2: 26,230,546 (GRCm39)		probably null	Het
Grep1	C	A	17: 23,931,332 (GRCm39)	G192W	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Kif20a	G	T	18: 34,763,580 (GRCm39)	R609L	probably benign	Het
Meis2	G	A	2: 115,694,790 (GRCm39)	T444I	probably benign	Het
Muc17	T	A	5: 137,175,485 (GRCm39)	I62L	probably benign	Het
Myorg	G	A	4: 41,497,830 (GRCm39)	A600V	probably benign	Het
Ncor2	C	T	5: 125,146,048 (GRCm39)	D526N	unknown	Het
Nodal	G	T	10: 61,259,446 (GRCm39)	E294D	probably damaging	Het
Nup214	T	C	2: 31,869,790 (GRCm39)	V161A	possibly damaging	Het
Or10a48	C	T	7: 108,424,921 (GRCm39)	G95D	probably benign	Het
Or5k1b	G	T	16: 58,580,725 (GRCm39)	D271E	probably damaging	Het
Or5m11b	G	A	2: 85,806,535 (GRCm39)	R316H	probably benign	Het
Pclo	A	T	5: 14,590,669 (GRCm39)	T990S	unknown	Het
Piwil2	A	T	14: 70,628,013 (GRCm39)	M752K	probably benign	Het
Ppargc1b	A	G	18: 61,431,837 (GRCm39)	S1004P	probably damaging	Het
Prkd1	A	T	12: 50,411,333 (GRCm39)	M805K	probably damaging	Het
Ralbp1	A	G	17: 66,171,274 (GRCm39)	V233A	probably benign	Het
Scin	C	T	12: 40,127,537 (GRCm39)	E418K	probably benign	Het
Scn7a	T	A	2: 66,506,057 (GRCm39)	I1611F	probably damaging	Het
Slit2	A	T	5: 48,142,506 (GRCm39)	H42L	probably damaging	Het
Stard9	T	A	2: 120,537,375 (GRCm39)	V4259D	probably damaging	Het
Trhde	T	A	10: 114,403,039 (GRCm39)	Y528F	probably damaging	Het
Txlnb	A	G	10: 17,675,168 (GRCm39)	E107G	probably damaging	Het
Zfp715	T	C	7: 42,948,572 (GRCm39)	T463A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCCAGCATCCCAGCTAATC -3'
(R):5'- CCTAAGGGTTCGTGATGGTC -3'

Sequencing Primer
(F):5'- AGCTAATCTCCCCACCTTGG -3'
(R):5'- GCCTGGAACTTAAAGAGATCCACTTG -3'

Posted On

2017-03-31