Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Uvssa'

698627

Institutional Source

Beutler Lab

Gene Symbol

Uvssa

Ensembl Gene

ENSMUSG00000037355

Gene Name

UV stimulated scaffold protein A

Synonyms

D330017J19Rik, 4933407H18Rik

MMRRC Submission

068982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33535893-33577098 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 33571419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000085170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087864] [ENSMUST00000202046] [ENSMUST00000202816]

AlphaFold

Q9D479

Predicted Effect

probably null
Transcript: ENSMUST00000087864

SMART Domains

Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355

Domain	Start	End	E-Value	Type
low complexity region	97	113	N/A	INTRINSIC
coiled coil region	169	199	N/A	INTRINSIC
low complexity region	282	295	N/A	INTRINSIC
coiled coil region	363	388	N/A	INTRINSIC
Pfam:DUF2043	504	610	6e-43	PFAM
low complexity region	613	625	N/A	INTRINSIC
low complexity region	648	662	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202046

SMART Domains

Protein: ENSMUSP00000144025
Gene: ENSMUSG00000037355

Domain	Start	End	E-Value	Type
low complexity region	97	113	N/A	INTRINSIC
coiled coil region	169	199	N/A	INTRINSIC
low complexity region	282	295	N/A	INTRINSIC
coiled coil region	363	388	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202816

SMART Domains

Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355

Domain	Start	End	E-Value	Type
low complexity region	97	113	N/A	INTRINSIC
coiled coil region	169	199	N/A	INTRINSIC
low complexity region	282	295	N/A	INTRINSIC
coiled coil region	363	388	N/A	INTRINSIC
Pfam:DUF2043	504	610	6e-43	PFAM
low complexity region	613	625	N/A	INTRINSIC
low complexity region	648	662	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	T	A	12: 84,153,358 (GRCm39)	L200Q	possibly damaging	Het
Apbb1	A	G	7: 105,208,727 (GRCm39)	S569P	probably damaging	Het
Atl3	A	G	19: 7,487,447 (GRCm39)	I121V	probably benign	Het
C87436	A	G	6: 86,423,227 (GRCm39)	D267G	probably benign	Het
Ccdc7a	T	A	8: 129,472,482 (GRCm39)	I1617F	possibly damaging	Het
Cic	T	C	7: 24,987,502 (GRCm39)	F1397L	probably benign	Het
Cln6	T	A	9: 62,756,465 (GRCm39)	M203K	probably benign	Het
Clock	A	G	5: 76,384,871 (GRCm39)	S449P	probably benign	Het
Cse1l	C	A	2: 166,783,185 (GRCm39)	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,589,583 (GRCm39)	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,943,932 (GRCm39)	I443V	probably benign	Het
Dctn1	T	C	6: 83,176,684 (GRCm39)	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,002,698 (GRCm39)	E37G	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Ecpas	A	T	4: 58,875,444 (GRCm39)	D173E	probably damaging	Het
Ercc5	T	C	1: 44,217,503 (GRCm39)	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,388,869 (GRCm39)	E465G	probably damaging	Het
Fam83d	T	A	2: 158,610,466 (GRCm39)	C145S	probably damaging	Het
Fbln7	T	A	2: 128,737,343 (GRCm39)	V386E	probably damaging	Het
Fpr3	A	T	17: 18,191,131 (GRCm39)	Q134L	probably damaging	Het
Gm3636	T	A	14: 17,955,001 (GRCm39)	R5S	possibly damaging	Het
Gna15	A	G	10: 81,345,224 (GRCm39)	S214P	probably benign	Het
Hdac9	A	G	12: 34,220,101 (GRCm39)	M897T	probably benign	Het
Hdc	T	C	2: 126,436,600 (GRCm39)	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,468,316 (GRCm39)	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,900,995 (GRCm39)	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,197,298 (GRCm39)	D1180G	probably benign	Het
Macf1	A	G	4: 123,577,925 (GRCm39)	C20R	unknown	Het
Mphosph9	T	C	5: 124,450,854 (GRCm39)	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327 (GRCm39)	R328G	probably benign	Het
Mslnl	C	T	17: 25,961,694 (GRCm39)	P117S	possibly damaging	Het
Muc16	T	A	9: 18,419,833 (GRCm39)	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,532,664 (GRCm39)	N430S	probably benign	Het
Myl1	T	C	1: 66,973,683 (GRCm39)	I8V	probably benign	Het
Ncdn	A	T	4: 126,644,041 (GRCm39)	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,919,114 (GRCm39)	R291S	probably damaging	Het
Nr4a2	A	G	2: 56,999,093 (GRCm39)	V448A	probably damaging	Het
Nrip1	T	C	16: 76,089,616 (GRCm39)	E647G	possibly damaging	Het
Or4c12	C	A	2: 89,773,725 (GRCm39)	V245L	possibly damaging	Het
Or52a5b	A	G	7: 103,417,478 (GRCm39)	I42T	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,120 (GRCm39)	M33T	possibly damaging	Het
Or8s10	C	A	15: 98,335,614 (GRCm39)	A88E	probably benign	Het
Patj	A	T	4: 98,427,310 (GRCm39)	I172F	unknown	Het
Per1	T	C	11: 68,995,636 (GRCm39)	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,306,859 (GRCm39)	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Pram1	A	G	17: 33,859,801 (GRCm39)	T123A	probably benign	Het
Ptpn23	C	A	9: 110,237,101 (GRCm39)		probably null	Het
Rcbtb2	C	T	14: 73,414,500 (GRCm39)	S437L	probably damaging	Het
Resf1	C	T	6: 149,228,027 (GRCm39)	L358F	probably damaging	Het
Rxfp4	T	A	3: 88,559,390 (GRCm39)	R354*	probably null	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,281,359 (GRCm39)	D317V	probably damaging	Het
Slco5a1	A	G	1: 13,059,802 (GRCm39)		probably null	Het
Snx14	T	A	9: 88,265,832 (GRCm39)	T768S	probably benign	Het
Sorbs1	T	A	19: 40,353,462 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,528,954 (GRCm39)	A364T	probably damaging	Het
Tgm3	T	A	2: 129,865,618 (GRCm39)	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,430 (GRCm39)	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,752,450 (GRCm39)	V205A	probably benign	Het
Treml2	A	T	17: 48,614,922 (GRCm39)	R136*	probably null	Het
Trim46	T	C	3: 89,142,466 (GRCm39)	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,376,356 (GRCm39)	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,173,568 (GRCm39)	H20R	probably benign	Het
Vmn1r192	A	T	13: 22,371,401 (GRCm39)	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,486,298 (GRCm39)	I330N	probably damaging	Het
Zfp40	A	G	17: 23,394,551 (GRCm39)	F679L	probably damaging	Het

Other mutations in Uvssa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Uvssa	APN	5	33,566,192 (GRCm39)	missense	probably benign	0.00
IGL02136:Uvssa	APN	5	33,549,192 (GRCm39)	missense	probably damaging	1.00
IGL02339:Uvssa	APN	5	33,572,193 (GRCm39)	missense	probably damaging	1.00
IGL03096:Uvssa	APN	5	33,568,268 (GRCm39)	missense	probably benign	0.29
IGL03130:Uvssa	APN	5	33,549,189 (GRCm39)	missense	possibly damaging	0.57
IGL03248:Uvssa	APN	5	33,549,160 (GRCm39)	missense	probably damaging	1.00
blinkered	UTSW	5	33,547,096 (GRCm39)	missense	probably benign	0.04
lowbrow	UTSW	5	33,571,228 (GRCm39)	splice site	probably benign
BB001:Uvssa	UTSW	5	33,568,295 (GRCm39)	missense	probably damaging	1.00
BB011:Uvssa	UTSW	5	33,568,295 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Uvssa	UTSW	5	33,559,914 (GRCm39)	missense	possibly damaging	0.50
PIT4142001:Uvssa	UTSW	5	33,549,428 (GRCm39)	missense	probably benign	0.05
R0326:Uvssa	UTSW	5	33,566,191 (GRCm39)	missense	probably benign	0.01
R0443:Uvssa	UTSW	5	33,546,168 (GRCm39)	missense	possibly damaging	0.68
R1438:Uvssa	UTSW	5	33,571,228 (GRCm39)	splice site	probably benign
R1474:Uvssa	UTSW	5	33,546,165 (GRCm39)	missense	probably benign	0.00
R1521:Uvssa	UTSW	5	33,571,278 (GRCm39)	missense	probably damaging	0.99
R1522:Uvssa	UTSW	5	33,545,152 (GRCm39)	missense	probably damaging	1.00
R1839:Uvssa	UTSW	5	33,547,096 (GRCm39)	missense	probably benign	0.00
R2223:Uvssa	UTSW	5	33,549,407 (GRCm39)	missense	probably damaging	1.00
R3404:Uvssa	UTSW	5	33,547,162 (GRCm39)	missense	probably damaging	0.99
R3405:Uvssa	UTSW	5	33,547,162 (GRCm39)	missense	probably damaging	0.99
R3406:Uvssa	UTSW	5	33,547,162 (GRCm39)	missense	probably damaging	0.99
R3892:Uvssa	UTSW	5	33,547,096 (GRCm39)	missense	probably benign	0.04
R4624:Uvssa	UTSW	5	33,547,300 (GRCm39)	missense	possibly damaging	0.87
R4898:Uvssa	UTSW	5	33,571,257 (GRCm39)	nonsense	probably null
R5413:Uvssa	UTSW	5	33,568,252 (GRCm39)	missense	probably damaging	1.00
R5921:Uvssa	UTSW	5	33,547,096 (GRCm39)	missense	probably benign	0.00
R5977:Uvssa	UTSW	5	33,547,204 (GRCm39)	missense	probably damaging	1.00
R6198:Uvssa	UTSW	5	33,566,854 (GRCm39)	missense	probably damaging	1.00
R6566:Uvssa	UTSW	5	33,549,520 (GRCm39)	missense	possibly damaging	0.66
R6884:Uvssa	UTSW	5	33,566,461 (GRCm39)	splice site	probably null
R7924:Uvssa	UTSW	5	33,568,295 (GRCm39)	missense	probably damaging	1.00
R8022:Uvssa	UTSW	5	33,566,848 (GRCm39)	missense	probably damaging	1.00
R8196:Uvssa	UTSW	5	33,568,311 (GRCm39)	missense	probably benign	0.07
R8252:Uvssa	UTSW	5	33,549,523 (GRCm39)	missense	probably benign	0.00
R9104:Uvssa	UTSW	5	33,571,404 (GRCm39)	missense	probably damaging	0.99
R9276:Uvssa	UTSW	5	33,572,180 (GRCm39)	missense	possibly damaging	0.89
R9320:Uvssa	UTSW	5	33,547,365 (GRCm39)	missense	probably benign	0.20
R9658:Uvssa	UTSW	5	33,568,333 (GRCm39)	missense	probably damaging	1.00
R9723:Uvssa	UTSW	5	33,547,382 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAAGTTGTGCTCAGATTGGC -3'
(R):5'- CCCAGCTCTACTTACAGAGAGG -3'

Sequencing Primer
(F):5'- CAGGACCCTGAGTTTCTGAAG -3'
(R):5'- CTGTAGACTCCTAGGAAGAGTGCTC -3'

Posted On

2022-02-07