Mutagenetix > Incidental Mutation

Incidental Mutation 'R7688:Uaca'

593217

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

045752-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R7688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60781409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1349 (Q1349R)

Ref Sequence

ENSEMBL: ENSMUSP00000062047 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050183
AA Change: Q1349R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: Q1349R

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: Q1347R

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217656
AA Change: Q1171R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	C	17: 35,365,868 (GRCm39)	Y1102H	probably damaging	Het
Cldn24	G	A	8: 48,275,740 (GRCm39)	C188Y	probably damaging	Het
Dennd4c	T	C	4: 86,713,377 (GRCm39)	W443R	probably damaging	Het
Dmxl1	T	A	18: 50,088,938 (GRCm39)	C2806S	probably benign	Het
Epb41l2	T	C	10: 25,355,036 (GRCm39)	Y449H	probably damaging	Het
Ets1	T	A	9: 32,607,720 (GRCm39)	I14N	probably benign	Het
F11	A	T	8: 45,703,127 (GRCm39)	F188I	probably damaging	Het
Fam13a	C	T	6: 58,912,692 (GRCm39)	V654I	probably benign	Het
Flt1	C	T	5: 147,613,135 (GRCm39)	V369I	probably benign	Het
Focad	T	A	4: 88,096,370 (GRCm39)	Y251N	probably damaging	Het
Gm5150	A	G	3: 16,017,747 (GRCm39)	S175P	probably benign	Het
Hnrnpul2	T	A	19: 8,797,994 (GRCm39)	S117T	probably benign	Het
Kcnj5	A	G	9: 32,234,264 (GRCm39)	V17A	probably benign	Het
Kctd1	T	G	18: 15,107,255 (GRCm39)	T737P	probably benign	Het
Kif14	T	C	1: 136,422,392 (GRCm39)	V894A	probably damaging	Het
Klhl12	A	T	1: 134,416,768 (GRCm39)	T497S	probably benign	Het
Klhl6	C	A	16: 19,765,881 (GRCm39)	V574L	probably damaging	Het
Lama1	A	T	17: 68,068,623 (GRCm39)	D774V		Het
Leng1	G	A	7: 3,665,809 (GRCm39)	P176L	probably benign	Het
Lig1	T	C	7: 13,023,389 (GRCm39)	L196P	probably benign	Het
Macrod1	C	A	19: 7,174,230 (GRCm39)	Y245*	probably null	Het
Mcf2l	T	A	8: 12,998,130 (GRCm39)	I6N	possibly damaging	Het
Megf11	A	G	9: 64,599,146 (GRCm39)	D687G	possibly damaging	Het
Muc4	A	T	16: 32,570,278 (GRCm39)	H446L	possibly damaging	Het
Oasl2	A	T	5: 115,035,909 (GRCm39)	I62F	probably benign	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or14a257	A	G	7: 86,138,183 (GRCm39)	V192A	probably benign	Het
Or4b12	A	T	2: 90,095,959 (GRCm39)	F272I	probably damaging	Het
Or52e8	C	A	7: 104,624,332 (GRCm39)	A291S	possibly damaging	Het
Pdcl2	T	C	5: 76,465,770 (GRCm39)	N150S	probably benign	Het
Pfkfb3	A	G	2: 11,497,450 (GRCm39)	Y54H	probably damaging	Het
Rab25	A	T	3: 88,452,270 (GRCm39)		probably null	Het
Slc22a18	G	A	7: 143,033,560 (GRCm39)	G104S	probably damaging	Het
Slc44a5	T	A	3: 153,679,437 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Spata18	A	G	5: 73,809,005 (GRCm39)	N26S	probably benign	Het
Tas2r115	T	A	6: 132,714,643 (GRCm39)	S103C	probably damaging	Het
Tigd2	T	A	6: 59,187,382 (GRCm39)	M83K	probably damaging	Het
Tnxb	T	A	17: 34,890,880 (GRCm39)	C408S	probably benign	Het
Trbj2-3	T	A	6: 41,520,159 (GRCm39)	S1R	possibly damaging	Het
Triobp	T	C	15: 78,845,311 (GRCm39)		probably null	Het
Ube2j2	T	A	4: 156,040,885 (GRCm39)	L171I	probably damaging	Het
Usp17ld	C	A	7: 102,899,982 (GRCm39)	G317W	probably damaging	Het
Vinac1	G	A	2: 128,880,964 (GRCm39)	Q321*	probably null	Het
Vmn2r72	T	A	7: 85,404,098 (GRCm39)	D31V	probably benign	Het
Zfp317	T	G	9: 19,559,251 (GRCm39)	H488Q	probably 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
R1997:Uaca	UTSW	9	60,777,623 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTTCGTGTCTCAAGTGAGG -3'
(R):5'- CAGCTTCAAATGCGTTTCAAC -3'

Sequencing Primer
(F):5'- CGTGTCTCAAGTGAGGAGTGATTTC -3'
(R):5'- GCGTTTCAACTCCATGGAAG -3'

Posted On

2019-11-12