Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Uaca'

224360

Institutional Source

Beutler Lab

Gene Symbol

Uaca

Ensembl Gene

ENSMUSG00000034485

Gene Name

uveal autoantigen with coiled-coil domains and ankyrin repeats

Synonyms

nucling, 2700059D02Rik

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60777623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 668 (E668G)

Ref Sequence

ENSEMBL: ENSMUSP00000151172 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050183
AA Change: E670G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: E670G

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 damaging
Transcript: ENSMUST00000214354
AA Change: E668G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216574

Predicted Effect

probably benign
Transcript: ENSMUST00000217656

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,005 (GRCm39)	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca17	A	G	17: 24,504,700 (GRCm39)	I1233T	probably benign	Het
Acin1	T	C	14: 54,884,156 (GRCm39)		probably null	Het
Acly	A	T	11: 100,409,977 (GRCm39)	I185N	probably damaging	Het
Adamts16	T	C	13: 70,901,386 (GRCm39)	D897G	probably benign	Het
Allc	A	C	12: 28,613,482 (GRCm39)	D153E	probably benign	Het
Ankrd12	A	G	17: 66,291,879 (GRCm39)	S1185P	probably damaging	Het
Aoc1l2	A	T	6: 48,909,363 (GRCm39)	Q536L	probably damaging	Het
Ap1g2	T	C	14: 55,339,835 (GRCm39)	E448G	probably benign	Het
Atg9a	A	T	1: 75,166,270 (GRCm39)	V50D	probably benign	Het
Bace2	A	T	16: 97,216,289 (GRCm39)	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,199,283 (GRCm39)	K708E	probably damaging	Het
Card10	G	A	15: 78,678,175 (GRCm39)	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,547,271 (GRCm39)	V39E	probably damaging	Het
Cdh20	A	T	1: 109,976,668 (GRCm39)	D111V	probably damaging	Het
Cercam	C	A	2: 29,762,935 (GRCm39)	T223K	probably benign	Het
Cimip2a	T	G	2: 25,110,217 (GRCm39)	L43R	probably damaging	Het
Cog5	A	G	12: 31,710,848 (GRCm39)	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,779,446 (GRCm39)	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 26,857,038 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,630,254 (GRCm39)	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,710,672 (GRCm39)	V287A	probably benign	Het
Dennd4c	A	G	4: 86,755,634 (GRCm39)	T1609A	probably benign	Het
Depdc5	T	A	5: 33,059,250 (GRCm39)		probably null	Het
Dhcr7	T	G	7: 143,401,167 (GRCm39)	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680 (GRCm39)	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,046,203 (GRCm39)	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,181,281 (GRCm39)	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,129,005 (GRCm39)	L205P	probably damaging	Het
Fam91a1	A	G	15: 58,296,044 (GRCm39)		probably null	Het
Fank1	C	T	7: 133,463,954 (GRCm39)	T50I	probably damaging	Het
Fhod3	A	G	18: 25,223,473 (GRCm39)	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,306,841 (GRCm39)	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502 (GRCm39)	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,751,387 (GRCm39)	L138I	probably damaging	Het
Gm2832	T	A	14: 41,002,943 (GRCm39)		probably null	Het
Gm5084	T	A	13: 60,360,344 (GRCm39)		noncoding transcript	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241 (GRCm39)	S39P	probably damaging	Het
Hesx1	A	T	14: 26,723,340 (GRCm39)	N57Y	probably damaging	Het
Kcnh1	G	A	1: 191,959,243 (GRCm39)	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904 (GRCm39)	T1168A	possibly damaging	Het
Kng2	A	T	16: 22,843,626 (GRCm39)	F118I	possibly damaging	Het
Lig3	C	T	11: 82,678,492 (GRCm39)	P245S	probably benign	Het
Loxhd1	G	T	18: 77,383,465 (GRCm39)	W121C	probably damaging	Het
Ltn1	A	G	16: 87,178,525 (GRCm39)	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,473,882 (GRCm39)		probably null	Het
Mcm10	C	T	2: 4,998,571 (GRCm39)	V790M	probably damaging	Het
Mia3	A	T	1: 183,125,707 (GRCm39)	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,288,405 (GRCm39)	K150N	probably damaging	Het
Morn4	T	C	19: 42,064,977 (GRCm39)	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,037,195 (GRCm39)		probably null	Het
Myocd	G	A	11: 65,095,147 (GRCm39)	Q47*	probably null	Het
Nav2	T	A	7: 49,198,219 (GRCm39)	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,461,266 (GRCm39)	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003 (GRCm38)	G67V	probably benign	Het
Nlgn2	A	C	11: 69,718,876 (GRCm39)	V271G	probably damaging	Het
Or1o2	A	G	17: 37,542,523 (GRCm39)	V246A	probably damaging	Het
Or2l5	A	C	16: 19,333,792 (GRCm39)	V198G	probably damaging	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Per2	T	C	1: 91,368,581 (GRCm39)	E264G	probably damaging	Het
Phf2	A	G	13: 48,982,384 (GRCm39)	L113P	unknown	Het
Piwil2	A	G	14: 70,664,107 (GRCm39)	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pms2	T	C	5: 143,850,518 (GRCm39)	L111P	probably damaging	Het
Polg	A	G	7: 79,108,979 (GRCm39)	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,774,093 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,778,671 (GRCm39)	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Prkar2b	A	G	12: 32,013,934 (GRCm39)	V314A	probably damaging	Het
Proser1	T	A	3: 53,386,292 (GRCm39)	S725T	probably benign	Het
Psg20	A	G	7: 18,416,535 (GRCm39)	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,496 (GRCm39)	I2255V	probably damaging	Het
Sardh	T	G	2: 27,134,409 (GRCm39)	T36P	probably damaging	Het
Sec23a	T	A	12: 59,048,793 (GRCm39)	I110L	probably benign	Het
Slc22a29	T	A	19: 8,195,162 (GRCm39)	I158L	probably benign	Het
Slc35c1	T	C	2: 92,284,984 (GRCm39)	D210G	probably benign	Het
Syde2	A	G	3: 145,704,746 (GRCm39)	N566S	probably benign	Het
Tcf20	G	A	15: 82,741,431 (GRCm39)	Q7*	probably null	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,192,350 (GRCm39)	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,420,973 (GRCm39)	Y29C	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Ube2o	T	A	11: 116,436,163 (GRCm39)	E326V	probably damaging	Het
Ubr1	C	T	2: 120,776,754 (GRCm39)		probably null	Het
Vmn1r19	T	A	6: 57,382,033 (GRCm39)	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,292,880 (GRCm39)	D307E	probably damaging	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Zan	A	T	5: 137,401,376 (GRCm39)	C4114*	probably null	Het
Zbed6	A	G	1: 133,584,451 (GRCm39)	L962P	probably damaging	Het
Zdhhc23	A	T	16: 43,799,305 (GRCm39)	C37S	probably damaging	Het
Zfp628	G	T	7: 4,921,831 (GRCm39)	G18W	probably damaging	Het
Zfp712	T	A	13: 67,190,114 (GRCm39)	K138*	probably null	Het
Zfp867	A	T	11: 59,354,417 (GRCm39)	V304D	probably damaging	Het
Zfp870	T	C	17: 33,103,027 (GRCm39)	T102A	possibly damaging	Het
Zmym5	G	A	14: 57,035,210 (GRCm39)	S286L	possibly damaging	Het

Other mutations in Uaca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Uaca	APN	9	60,779,507 (GRCm39)	missense	probably benign
IGL01751:Uaca	APN	9	60,777,139 (GRCm39)	missense	probably damaging	1.00
IGL02868:Uaca	APN	9	60,770,919 (GRCm39)	missense	probably damaging	1.00
IGL02977:Uaca	APN	9	60,773,662 (GRCm39)	missense	probably benign	0.00
IGL03037:Uaca	APN	9	60,748,147 (GRCm39)	missense	probably damaging	1.00
IGL03060:Uaca	APN	9	60,777,148 (GRCm39)	missense	probably damaging	1.00
IGL03083:Uaca	APN	9	60,770,945 (GRCm39)	missense	probably benign	0.28
IGL03266:Uaca	APN	9	60,770,689 (GRCm39)	missense	probably damaging	1.00
IGL03346:Uaca	APN	9	60,761,600 (GRCm39)	missense	probably damaging	1.00
Ixtapa	UTSW	9	60,777,695 (GRCm39)	missense	probably damaging	0.99
oaxaca	UTSW	9	60,778,733 (GRCm39)	missense	probably benign
R0408:Uaca	UTSW	9	60,779,141 (GRCm39)	missense	possibly damaging	0.71
R0567:Uaca	UTSW	9	60,778,663 (GRCm39)	missense	probably benign	0.01
R0598:Uaca	UTSW	9	60,778,203 (GRCm39)	nonsense	probably null
R0603:Uaca	UTSW	9	60,778,379 (GRCm39)	missense	possibly damaging	0.60
R0655:Uaca	UTSW	9	60,779,311 (GRCm39)	missense	probably benign	0.03
R0707:Uaca	UTSW	9	60,755,900 (GRCm39)	splice site	probably benign
R0791:Uaca	UTSW	9	60,779,341 (GRCm39)	missense	possibly damaging	0.50
R1466:Uaca	UTSW	9	60,761,603 (GRCm39)	missense	possibly damaging	0.88
R1466:Uaca	UTSW	9	60,761,603 (GRCm39)	missense	possibly damaging	0.88
R1520:Uaca	UTSW	9	60,778,663 (GRCm39)	missense	probably benign	0.30
R1673:Uaca	UTSW	9	60,779,438 (GRCm39)	missense	probably damaging	1.00
R1894:Uaca	UTSW	9	60,777,718 (GRCm39)	missense	possibly damaging	0.87
R2042:Uaca	UTSW	9	60,777,173 (GRCm39)	missense	probably damaging	1.00
R2095:Uaca	UTSW	9	60,748,125 (GRCm39)	missense	probably benign	0.00
R2148:Uaca	UTSW	9	60,776,961 (GRCm39)	missense	probably damaging	1.00
R2384:Uaca	UTSW	9	60,777,199 (GRCm39)	missense	probably damaging	1.00
R3110:Uaca	UTSW	9	60,778,781 (GRCm39)	missense	probably damaging	1.00
R3112:Uaca	UTSW	9	60,778,781 (GRCm39)	missense	probably damaging	1.00
R4001:Uaca	UTSW	9	60,778,366 (GRCm39)	missense	probably benign	0.04
R4155:Uaca	UTSW	9	60,779,035 (GRCm39)	missense	probably benign	0.02
R4156:Uaca	UTSW	9	60,779,035 (GRCm39)	missense	probably benign	0.02
R4157:Uaca	UTSW	9	60,779,035 (GRCm39)	missense	probably benign	0.02
R4410:Uaca	UTSW	9	60,777,173 (GRCm39)	missense	probably damaging	1.00
R4674:Uaca	UTSW	9	60,761,711 (GRCm39)	missense	possibly damaging	0.94
R4871:Uaca	UTSW	9	60,753,283 (GRCm39)	missense	probably damaging	1.00
R5130:Uaca	UTSW	9	60,787,510 (GRCm39)	missense	probably damaging	0.96
R5328:Uaca	UTSW	9	60,777,814 (GRCm39)	missense	probably benign	0.44
R5358:Uaca	UTSW	9	60,778,430 (GRCm39)	missense	probably benign
R5415:Uaca	UTSW	9	60,777,421 (GRCm39)	missense	possibly damaging	0.65
R5437:Uaca	UTSW	9	60,778,733 (GRCm39)	missense	probably benign
R5647:Uaca	UTSW	9	60,779,380 (GRCm39)	missense	probably benign	0.28
R5710:Uaca	UTSW	9	60,779,093 (GRCm39)	missense	probably damaging	1.00
R5920:Uaca	UTSW	9	60,776,885 (GRCm39)	missense	probably benign	0.19
R5931:Uaca	UTSW	9	60,779,294 (GRCm39)	missense	probably damaging	0.97
R5933:Uaca	UTSW	9	60,748,238 (GRCm39)	missense	probably damaging	1.00
R5959:Uaca	UTSW	9	60,778,052 (GRCm39)	missense	probably damaging	1.00
R6193:Uaca	UTSW	9	60,777,326 (GRCm39)	missense	probably damaging	0.99
R6195:Uaca	UTSW	9	60,777,326 (GRCm39)	missense	probably damaging	0.99
R6242:Uaca	UTSW	9	60,777,326 (GRCm39)	missense	probably damaging	0.99
R6243:Uaca	UTSW	9	60,777,326 (GRCm39)	missense	probably damaging	0.99
R6244:Uaca	UTSW	9	60,777,326 (GRCm39)	missense	probably damaging	0.99
R6274:Uaca	UTSW	9	60,757,573 (GRCm39)	splice site	probably null
R6670:Uaca	UTSW	9	60,779,306 (GRCm39)	missense	probably benign	0.09
R6883:Uaca	UTSW	9	60,777,173 (GRCm39)	missense	probably damaging	1.00
R7011:Uaca	UTSW	9	60,777,650 (GRCm39)	missense	probably damaging	1.00
R7111:Uaca	UTSW	9	60,779,120 (GRCm39)	missense	probably benign	0.06
R7146:Uaca	UTSW	9	60,777,695 (GRCm39)	missense	probably damaging	0.99
R7424:Uaca	UTSW	9	60,777,392 (GRCm39)	missense	probably damaging	1.00
R7485:Uaca	UTSW	9	60,753,282 (GRCm39)	missense	probably damaging	1.00
R7510:Uaca	UTSW	9	60,757,487 (GRCm39)	splice site	probably null
R7688:Uaca	UTSW	9	60,781,409 (GRCm39)	missense	probably benign	0.11
R7724:Uaca	UTSW	9	60,777,187 (GRCm39)	missense	probably benign	0.24
R7743:Uaca	UTSW	9	60,783,677 (GRCm39)	missense	probably damaging	0.99
R8556:Uaca	UTSW	9	60,777,923 (GRCm39)	missense	probably damaging	0.97
R8699:Uaca	UTSW	9	60,778,347 (GRCm39)	missense	probably damaging	1.00
R8814:Uaca	UTSW	9	60,773,680 (GRCm39)	missense	possibly damaging	0.82
R8828:Uaca	UTSW	9	60,778,852 (GRCm39)	missense	probably benign	0.00
R9475:Uaca	UTSW	9	60,779,498 (GRCm39)	missense	possibly damaging	0.88
R9477:Uaca	UTSW	9	60,778,108 (GRCm39)	missense	probably benign	0.33
R9509:Uaca	UTSW	9	60,779,498 (GRCm39)	missense	possibly damaging	0.88
X0067:Uaca	UTSW	9	60,766,431 (GRCm39)	missense	possibly damaging	0.69
Z1177:Uaca	UTSW	9	60,781,405 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACATGTGAAGTCGAGCTGG -3'
(R):5'- CACCTGCTGGTTGAGAAGTTTG -3'

Sequencing Primer
(F):5'- CATGTGAAGTCGAGCTGGAGAGG -3'
(R):5'- CCTGCTGGTTGAGAAGTTTGTTGTC -3'

Posted On

2014-08-25