Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Uvssa'

346399

Institutional Source

Beutler Lab

Gene Symbol

Uvssa

Ensembl Gene

ENSMUSG00000037355

Gene Name

UV stimulated scaffold protein A

Synonyms

D330017J19Rik, 4933407H18Rik

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

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

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33535893-33577098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33547300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 289 (E289K)

Ref Sequence

ENSEMBL: ENSMUSP00000144025 (fasta)

Gene Model

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

AlphaFold

Q9D479

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087864
AA Change: E289K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085170
Gene: ENSMUSG00000037355
AA Change: E289K

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: ENSMUST00000153980
AA Change: R515Q

Predicted Effect

not run
Transcript: ENSMUST00000185821
AA Change: E289K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200682

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202046
AA Change: E289K

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144025
Gene: ENSMUSG00000037355
AA Change: E289K

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

possibly damaging
Transcript: ENSMUST00000202816
AA Change: E289K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144400
Gene: ENSMUSG00000037355
AA Change: E289K

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

0.0791

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	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
R3892:Uvssa	UTSW	5	33,547,096 (GRCm39)	missense	probably benign	0.04
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'- CTAGCATGACAGAGGGCTATGC -3'
(R):5'- CAACCCAAGGAGATGCTGTC -3'

Sequencing Primer
(F):5'- ACAGAGGGCTATGCTCCTTG -3'
(R):5'- AAGGAGATGCTGTCCCTACGTC -3'

Posted On

2015-09-25