Mutagenetix > Incidental Mutations

Incidental Mutation 'R0791:Uaca'

82403

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

038971-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60794542-60880370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60872059 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1243 (Q1243K)

Ref Sequence

ENSEMBL: ENSMUSP00000062047 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050183
AA Change: Q1243K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: Q1243K

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 benign
Transcript: ENSMUST00000214354
AA Change: Q1241K

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216574

Predicted Effect

unknown
Transcript: ENSMUST00000217656
AA Change: Q1065K

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,933,868		probably null	Het
Ahnak	G	A	19: 9,016,734	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,194,112	Y55H	probably damaging	Het
Atp2b2	C	T	6: 113,773,388	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,878,519	V66A	probably benign	Het
Ccdc33	T	C	9: 58,028,763	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,882,632		probably null	Het
Cenpn	T	A	8: 116,940,820		probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Clca1	A	C	3: 145,004,854	S863A	probably benign	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Dock4	C	T	12: 40,704,481	R490W	probably damaging	Het
Evpl	T	A	11: 116,227,723	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,847,456	S59G	probably benign	Het
Glb1l2	A	G	9: 26,769,751	V218A	possibly damaging	Het
Gpatch1	A	T	7: 35,281,376		probably benign	Het
Grin2c	G	A	11: 115,250,646	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,242,614	T109N	probably damaging	Het
Ipo8	A	G	6: 148,821,727	V64A	possibly damaging	Het
Jpt2	C	A	17: 24,948,673	A101S	probably benign	Het
Lamc1	C	A	1: 153,234,580	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,234,595	Q1111H	probably damaging	Het
Lamc1	T	C	1: 153,234,612	S1106G	probably benign	Het
Large1	A	G	8: 73,048,479		probably benign	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Mpz	C	A	1: 171,158,774	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,704,684	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,382		probably benign	Het
Mtor	T	C	4: 148,462,910	V450A	probably benign	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Myo6	T	A	9: 80,262,374		probably benign	Het
Myom1	A	T	17: 71,121,136	I1450F	probably damaging	Het
Nbas	T	A	12: 13,482,633	S1781T	probably benign	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,886,749	T149A	probably benign	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Osbp2	G	A	11: 3,711,882		probably benign	Het
Paip1	T	C	13: 119,430,318	S54P	possibly damaging	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Prdm14	G	T	1: 13,125,744	A31E	probably benign	Het
Ptpn14	C	T	1: 189,836,440		probably benign	Het
Rims2	A	G	15: 39,679,625		probably benign	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sema3g	T	A	14: 31,220,904		probably benign	Het
Slc30a6	T	C	17: 74,415,645	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,158,077		probably benign	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Synpo2	A	G	3: 123,113,186	V827A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trak2	A	T	1: 58,903,661	M862K	probably benign	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Twnk	T	C	19: 45,010,254		probably benign	Het
Tymp	T	C	15: 89,374,818	K221R	probably damaging	Het
Vwa8	T	C	14: 78,994,576		probably benign	Het
Wnt4	C	T	4: 137,289,283	R83W	probably damaging	Het
Zfp820	T	C	17: 21,819,528	D273G	probably benign	Het
Zfp974	A	T	7: 27,910,085	Y738*	probably null	Het
Zkscan4	A	C	13: 21,483,911	E177D	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
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
R7510:Uaca	UTSW	9	60850205	splice site	probably null
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
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'- ATCAGAAGAACTCCTCGGTGACCC -3'
(R):5'- AATGGCTTGGTAGACCGGACTGTG -3'

Sequencing Primer
(F):5'- TGAAGCTAAAGGAAGCCCTC -3'
(R):5'- TTCTGTGCTAAGGAGCCAC -3'

Posted On

2013-11-08