Mutagenetix > Incidental Mutation

Incidental Mutation 'R3892:Uvssa'

309971

Institutional Source

Beutler Lab

Gene Symbol

Uvssa

Ensembl Gene

ENSMUSG00000037355

Gene Name

UV stimulated scaffold protein A

Synonyms

D330017J19Rik, 4933407H18Rik

MMRRC Submission

040804-MU

Accession Numbers

Essential gene?

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

Stock #

R3892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33535893-33577098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33547096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 221 (S221T)

Ref Sequence

ENSEMBL: ENSMUSP00000144400 (fasta)

Gene Model

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

AlphaFold

Q9D479

Predicted Effect

probably benign
Transcript: ENSMUST00000087864
AA Change: S221T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: S221T

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

noncoding transcript
Transcript: ENSMUST00000200682

Predicted Effect

probably benign
Transcript: ENSMUST00000202046
AA Change: S221T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144025
Gene: ENSMUSG00000037355
AA Change: S221T

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
AA Change: S221T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: S221T

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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
BC061237	A	G	14: 44,738,730 (GRCm39)	D43G	probably benign	Het
Bckdhb	A	C	9: 83,870,863 (GRCm39)	E124D	probably damaging	Het
Card6	T	C	15: 5,128,778 (GRCm39)	T873A	probably benign	Het
Cbs	C	A	17: 31,835,048 (GRCm39)	C476F	probably benign	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Cd248	C	T	19: 5,119,534 (GRCm39)	P461S	probably damaging	Het
Cdh16	T	C	8: 105,342,959 (GRCm39)	Y19C	probably damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Cnnm2	T	A	19: 46,750,232 (GRCm39)	C7*	probably null	Het
Ctnnb1	T	G	9: 120,779,580 (GRCm39)		probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dnah12	A	G	14: 26,578,573 (GRCm39)	M491V	probably benign	Het
Eftud2	A	C	11: 102,737,013 (GRCm39)	I590S	probably damaging	Het
Ep300	T	C	15: 81,504,198 (GRCm39)		probably benign	Het
Fam209	A	G	2: 172,314,618 (GRCm39)	K36E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Flg	A	T	3: 93,186,833 (GRCm39)	Q95L	probably benign	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Ggcx	G	A	6: 72,395,355 (GRCm39)	V149M	probably damaging	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
H2-M10.1	T	A	17: 36,635,281 (GRCm39)	Q250L	possibly damaging	Het
Hecw2	A	T	1: 53,965,280 (GRCm39)	N515K	probably benign	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Klf5	T	A	14: 99,536,509 (GRCm39)	F27I	probably benign	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lrrc14b	T	C	13: 74,511,787 (GRCm39)	S98G	probably benign	Het
Lrrc7	A	G	3: 157,866,333 (GRCm39)	V1136A	probably benign	Het
Map3k11	G	T	19: 5,752,311 (GRCm39)	C831F	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Myd88	T	C	9: 119,166,882 (GRCm39)	D225G	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or4f15	A	C	2: 111,813,486 (GRCm39)	M311R	probably benign	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Plxna4	C	A	6: 32,192,589 (GRCm39)	D791Y	probably damaging	Het
Pole	T	G	5: 110,484,305 (GRCm39)	I320M	probably damaging	Het
Psg23	G	T	7: 18,345,966 (GRCm39)	T243N	probably damaging	Het
Ptma-ps1	A	G	7: 23,763,543 (GRCm39)		noncoding transcript	Het
Ptprk	A	T	10: 28,139,617 (GRCm39)	Q114L	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rabgef1	A	G	5: 130,237,520 (GRCm39)		probably benign	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sacs	T	G	14: 61,441,836 (GRCm39)	I1294R	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snrnp48	G	A	13: 38,401,365 (GRCm39)	S204N	possibly damaging	Het
Sp3	A	G	2: 72,809,376 (GRCm39)		probably benign	Het
St8sia6	G	A	2: 13,677,335 (GRCm39)	H161Y	probably benign	Het
Strip2	A	T	6: 29,917,074 (GRCm39)		probably benign	Het
Trank1	T	C	9: 111,193,827 (GRCm39)	V617A	probably benign	Het
Vmn2r75	A	T	7: 85,813,494 (GRCm39)	L436Q	probably null	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het
Zfp407	C	T	18: 84,578,477 (GRCm39)	V879I	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	probably benign	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
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
R9208:Uvssa	UTSW	5	33,571,419 (GRCm39)	critical splice donor site	probably null
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'- GGTTTATATGCCAGTCCACTTGG -3'
(R):5'- TTGGGGTAGTGCCTTCAGAC -3'

Sequencing Primer
(F):5'- GAAGCAGTCTTGGCCATCTG -3'
(R):5'- GGTAGTGCCTTCAGACCAACAAC -3'

Posted On

2015-04-17