Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Uaca'

585924

Institutional Source

Beutler Lab

Gene Symbol

Uaca

Ensembl Gene

ENSMUSG00000034485

Gene Name

uveal autoantigen with coiled-coil domains and ankyrin repeats

Synonyms

2700059D02Rik, nucling

MMRRC Submission

045583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R7510 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60794542-60880370 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 60850205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050183] [ENSMUST00000214354]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050183

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
ANK	35	68	2.66e3	SMART
ANK	69	98	1.96e-3	SMART
ANK	102	131	1.65e-1	SMART
ANK	135	164	1.38e-3	SMART
ANK	168	197	3.65e-3	SMART
ANK	201	230	6.26e-2	SMART
Blast:ANK	234	263	7e-9	BLAST
coiled coil region	301	381	N/A	INTRINSIC
coiled coil region	445	626	N/A	INTRINSIC
Pfam:TolA_bind_tri	869	943	4e-11	PFAM
coiled coil region	1009	1382	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000214354

Predicted Effect

probably null
Transcript: ENSMUST00000217656

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

MGI Phenotype

PHENOTYPE: Homozygous mice display swelling of and inflammatory lesions in the preputial gland. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,993,896	R320C	probably benign	Het
Bend4	A	G	5: 67,427,384	F66L	unknown	Het
Brca2	T	C	5: 150,536,691	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,845,322	K134*	probably null	Het
Catsper1	A	T	19: 5,339,550	T498S	probably benign	Het
Ccdc177	C	A	12: 80,757,683	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,713,489	A56S	possibly damaging	Het
Disp1	T	C	1: 183,088,411	N815S	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Fancf	A	G	7: 51,862,205	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,737,789	H361Q	possibly damaging	Het
Furin	A	G	7: 80,393,585	S293P	probably damaging	Het
Ghsr	A	T	3: 27,372,374	D193V	probably benign	Het
Gm14403	T	A	2: 177,508,610	N116K	probably benign	Het
Gpr31b	A	G	17: 13,051,670	L204P	probably damaging	Het
Hexim1	A	G	11: 103,117,241	E107G	probably benign	Het
Hspa14	T	C	2: 3,498,122	S212G	probably benign	Het
Il18r1	T	A	1: 40,474,875	H80Q	probably benign	Het
Itpr3	A	G	17: 27,089,039	T267A	probably damaging	Het
Kidins220	T	A	12: 24,992,269	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,993,377	F228L	probably benign	Het
Ltbp1	T	A	17: 75,352,717	V1288E	probably damaging	Het
Madd	T	C	2: 91,177,976	T194A	possibly damaging	Het
Mlana	G	A	19: 29,704,672	G42S	probably benign	Het
Mlxipl	A	G	5: 135,133,118	E548G	possibly damaging	Het
Mmab	A	T	5: 114,435,222	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nrf1	C	T	6: 30,151,634	T490I	possibly damaging	Het
Numbl	A	G	7: 27,271,987		probably null	Het
Olfr1014	T	A	2: 85,776,809	V75D	probably damaging	Het
Olfr111	T	A	17: 37,530,589	I204N	probably damaging	Het
Olfr1148	T	A	2: 87,833,528	I163K	probably damaging	Het
Olfr1350	C	T	7: 6,569,961		probably benign	Het
Olfr155	A	G	4: 43,854,482	T58A	probably benign	Het
Olfr803	G	T	10: 129,691,920	N40K	probably damaging	Het
Papln	G	A	12: 83,772,173	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,449,592	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,413,015	D310G	possibly damaging	Het
Plin5	T	A	17: 56,113,975	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,368,801	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,927,992	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,376,470	R728G	possibly damaging	Het
Prkca	A	T	11: 107,983,994	V374E	possibly damaging	Het
Prss3	A	T	6: 41,375,110	L73*	probably null	Het
Prss51	G	A	14: 64,096,040	D33N	probably damaging	Het
Rfwd3	A	G	8: 111,280,027	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 98,994,230	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,616,068	I182V	possibly damaging	Het
Saa2	T	A	7: 46,753,509	D61E	probably damaging	Het
Samd3	A	T	10: 26,230,108	I22F	probably benign	Het
Sap130	C	T	18: 31,667,004	P403L	probably damaging	Het
Sap130	A	G	18: 31,711,215	T813A	probably damaging	Het
Scfd2	A	G	5: 74,212,327	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,512,603	F119I	probably benign	Het
Serpinb9	T	A	13: 33,010,785	F175I	probably damaging	Het
Slc12a3	G	T	8: 94,365,849	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,428,268	V169A	probably benign	Het
Synj1	A	G	16: 90,938,677	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,233	H182L	probably benign	Het
Tigd5	T	C	15: 75,910,419	V210A	probably benign	Het
Tssc4	G	A	7: 143,069,981	E9K	possibly damaging	Het
Txk	C	G	5: 72,736,383	C18S	unknown	Het
Vmn2r1	A	C	3: 64,086,501	K89N	probably damaging	Het
Zfp160	G	A	17: 21,026,393	E402K	probably benign	Het

Other mutations in Uaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Uaca	APN	9	60872225	missense	probably benign
IGL01751:Uaca	APN	9	60869857	missense	probably damaging	1.00
IGL02868:Uaca	APN	9	60863637	missense	probably damaging	1.00
IGL02977:Uaca	APN	9	60866380	missense	probably benign	0.00
IGL03037:Uaca	APN	9	60840865	missense	probably damaging	1.00
IGL03060:Uaca	APN	9	60869866	missense	probably damaging	1.00
IGL03083:Uaca	APN	9	60863663	missense	probably benign	0.28
IGL03266:Uaca	APN	9	60863407	missense	probably damaging	1.00
IGL03346:Uaca	APN	9	60854318	missense	probably damaging	1.00
Ixtapa	UTSW	9	60870413	missense	probably damaging	0.99
oaxaca	UTSW	9	60871451	missense	probably benign
R0408:Uaca	UTSW	9	60871859	missense	possibly damaging	0.71
R0567:Uaca	UTSW	9	60871381	missense	probably benign	0.01
R0598:Uaca	UTSW	9	60870921	nonsense	probably null
R0603:Uaca	UTSW	9	60871097	missense	possibly damaging	0.60
R0655:Uaca	UTSW	9	60872029	missense	probably benign	0.03
R0707:Uaca	UTSW	9	60848618	splice site	probably benign
R0791:Uaca	UTSW	9	60872059	missense	possibly damaging	0.50
R1466:Uaca	UTSW	9	60854321	missense	possibly damaging	0.88
R1466:Uaca	UTSW	9	60854321	missense	possibly damaging	0.88
R1520:Uaca	UTSW	9	60871381	missense	probably benign	0.30
R1673:Uaca	UTSW	9	60872156	missense	probably damaging	1.00
R1894:Uaca	UTSW	9	60870436	missense	possibly damaging	0.87
R1997:Uaca	UTSW	9	60870341	missense	probably damaging	1.00
R2042:Uaca	UTSW	9	60869891	missense	probably damaging	1.00
R2095:Uaca	UTSW	9	60840843	missense	probably benign	0.00
R2148:Uaca	UTSW	9	60869679	missense	probably damaging	1.00
R2384:Uaca	UTSW	9	60869917	missense	probably damaging	1.00
R3110:Uaca	UTSW	9	60871499	missense	probably damaging	1.00
R3112:Uaca	UTSW	9	60871499	missense	probably damaging	1.00
R4001:Uaca	UTSW	9	60871084	missense	probably benign	0.04
R4155:Uaca	UTSW	9	60871753	missense	probably benign	0.02
R4156:Uaca	UTSW	9	60871753	missense	probably benign	0.02
R4157:Uaca	UTSW	9	60871753	missense	probably benign	0.02
R4410:Uaca	UTSW	9	60869891	missense	probably damaging	1.00
R4674:Uaca	UTSW	9	60854429	missense	possibly damaging	0.94
R4871:Uaca	UTSW	9	60846001	missense	probably damaging	1.00
R5130:Uaca	UTSW	9	60880228	missense	probably damaging	0.96
R5328:Uaca	UTSW	9	60870532	missense	probably benign	0.44
R5358:Uaca	UTSW	9	60871148	missense	probably benign
R5415:Uaca	UTSW	9	60870139	missense	possibly damaging	0.65
R5437:Uaca	UTSW	9	60871451	missense	probably benign
R5647:Uaca	UTSW	9	60872098	missense	probably benign	0.28
R5710:Uaca	UTSW	9	60871811	missense	probably damaging	1.00
R5920:Uaca	UTSW	9	60869603	missense	probably benign	0.19
R5931:Uaca	UTSW	9	60872012	missense	probably damaging	0.97
R5933:Uaca	UTSW	9	60840956	missense	probably damaging	1.00
R5959:Uaca	UTSW	9	60870770	missense	probably damaging	1.00
R6193:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6195:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6242:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6243:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6244:Uaca	UTSW	9	60870044	missense	probably damaging	0.99
R6274:Uaca	UTSW	9	60850291	splice site	probably null
R6670:Uaca	UTSW	9	60872024	missense	probably benign	0.09
R6883:Uaca	UTSW	9	60869891	missense	probably damaging	1.00
R7011:Uaca	UTSW	9	60870368	missense	probably damaging	1.00
R7111:Uaca	UTSW	9	60871838	missense	probably benign	0.06
R7146:Uaca	UTSW	9	60870413	missense	probably damaging	0.99
R7424:Uaca	UTSW	9	60870110	missense	probably damaging	1.00
R7485:Uaca	UTSW	9	60846000	missense	probably damaging	1.00
R7688:Uaca	UTSW	9	60874127	missense	probably benign	0.11
R7724:Uaca	UTSW	9	60869905	missense	probably benign	0.24
R7743:Uaca	UTSW	9	60876395	missense	probably damaging	0.99
R8556:Uaca	UTSW	9	60870641	missense	probably damaging	0.97
R8699:Uaca	UTSW	9	60871065	missense	probably damaging	1.00
R8814:Uaca	UTSW	9	60866398	missense	possibly damaging	0.82
R8828:Uaca	UTSW	9	60871570	missense	probably benign	0.00
R9475:Uaca	UTSW	9	60872216	missense	possibly damaging	0.88
R9477:Uaca	UTSW	9	60870826	missense	probably benign	0.33
R9509:Uaca	UTSW	9	60872216	missense	possibly damaging	0.88
X0067:Uaca	UTSW	9	60859149	missense	possibly damaging	0.69
Z1177:Uaca	UTSW	9	60874123	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGTGCAGTTCTGCCGAG -3'
(R):5'- CTGGAATTGACATCTGCCCC -3'

Sequencing Primer
(F):5'- CCTCTTCTGTGCTAGGCTGAG -3'
(R):5'- CCTCTGTCTATCAGCAACTGAC -3'

Posted On

2019-10-18