Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Uvssa'

461568

Institutional Source

Beutler Lab

Gene Symbol

Uvssa

Ensembl Gene

ENSMUSG00000037355

Gene Name

UV stimulated scaffold protein A

Synonyms

D330017J19Rik, 4933407H18Rik

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33535893-33577098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33547096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 221 (S221P)

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: S221P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: S221P

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: S221P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144025
Gene: ENSMUSG00000037355
AA Change: S221P

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: S221P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: S221P

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

0.0721

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	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
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'- AATATCATGTCCCCTTGGTGTC -3'
(R):5'- TCCCTGGAGGAGTCTTTCATG -3'

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

Posted On

2017-02-28