Mutagenetix > Incidental Mutation

Incidental Mutation 'R7485:Uaca'

580087

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

045559-MU

Accession Numbers

Essential gene?

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

Stock #

R7485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60753282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 76 (V76I)

Ref Sequence

ENSEMBL: ENSMUSP00000062047 (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: V76I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: V76I

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: V76I

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (99/100)

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
Adat3	C	T	10: 80,442,234 (GRCm39)	A24V	probably benign	Het
Agbl1	A	T	7: 76,239,241 (GRCm39)	E832D	unknown	Het
Akap8l	G	A	17: 32,554,545 (GRCm39)	S347L	probably benign	Het
Ankmy1	G	T	1: 92,804,379 (GRCm39)	A868E	probably damaging	Het
Ankrd49	A	T	9: 14,693,837 (GRCm39)	L110*	probably null	Het
Aoc3	A	G	11: 101,228,229 (GRCm39)	T679A	probably damaging	Het
Ap1s3	A	G	1: 79,592,018 (GRCm39)	Y111H	probably damaging	Het
Arnt	T	A	3: 95,402,659 (GRCm39)	N777K	probably damaging	Het
Atp4b	A	T	8: 13,436,732 (GRCm39)	M260K	probably benign	Het
Bcl2l15	A	T	3: 103,740,729 (GRCm39)	D65V	probably damaging	Het
Bicdl1	G	T	5: 115,801,845 (GRCm39)	S340*	probably null	Het
Ccdc15	T	C	9: 37,226,574 (GRCm39)	R467G	probably benign	Het
Ccdc68	T	A	18: 70,102,084 (GRCm39)	M327K	possibly damaging	Het
Ccdc83	T	C	7: 89,873,138 (GRCm39)	T406A	probably benign	Het
Ccnf	A	T	17: 24,468,232 (GRCm39)	V55D	probably damaging	Het
Cdcp3	C	A	7: 130,830,562 (GRCm39)	P332Q	probably damaging	Het
Cldn12	A	G	5: 5,558,008 (GRCm39)	F140L	probably benign	Het
Copb1	A	C	7: 113,844,720 (GRCm39)	I213S	possibly damaging	Het
Cps1	G	A	1: 67,179,016 (GRCm39)	G76D	probably damaging	Het
Ctrc	A	G	4: 141,567,627 (GRCm39)	W159R	probably damaging	Het
Cul4a	C	T	8: 13,190,279 (GRCm39)	T572M	possibly damaging	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Dcc	A	G	18: 71,553,317 (GRCm39)	Y780H	probably benign	Het
Dctn1	C	T	6: 83,166,887 (GRCm39)	A283V	possibly damaging	Het
Dio1	T	C	4: 107,154,874 (GRCm39)	D134G	probably benign	Het
Dlg5	A	T	14: 24,198,390 (GRCm39)	D1514E	probably benign	Het
Dlg5	A	T	14: 24,227,907 (GRCm39)	L338Q	probably damaging	Het
Dlgap2	A	T	8: 14,879,952 (GRCm39)	K767N	probably damaging	Het
Dst	A	T	1: 34,313,270 (GRCm39)	I4346F	probably benign	Het
Dzip1l	T	C	9: 99,543,065 (GRCm39)	F507L	probably benign	Het
Erich2	A	T	2: 70,362,109 (GRCm39)	D300V	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam131a	C	T	16: 20,520,444 (GRCm39)	A299V	probably benign	Het
Fbln2	A	G	6: 91,247,143 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,204,912 (GRCm39)	D1177G	possibly damaging	Het
Fbxl6	T	C	15: 76,422,113 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,339,965 (GRCm39)	I753F	probably damaging	Het
Gfra1	A	G	19: 58,288,744 (GRCm39)	S234P	probably damaging	Het
Gtse1	T	A	15: 85,752,901 (GRCm39)	S339T	probably benign	Het
Hdgfl3	T	C	7: 81,550,106 (GRCm39)	N76S	probably benign	Het
Herc6	A	G	6: 57,558,089 (GRCm39)	E23G	probably benign	Het
Hid1	T	A	11: 115,245,545 (GRCm39)	H420L	probably damaging	Het
Igsf21	G	A	4: 139,755,049 (GRCm39)	T440I	probably benign	Het
Ikzf4	T	A	10: 128,468,451 (GRCm39)	H676L	unknown	Het
Il18r1	A	G	1: 40,520,140 (GRCm39)	E177G	probably benign	Het
Iqch	A	G	9: 63,415,599 (GRCm39)	Y558H	possibly damaging	Het
Kif11	A	T	19: 37,399,072 (GRCm39)	N752I	possibly damaging	Het
Kntc1	T	A	5: 123,925,019 (GRCm39)	C1111S	possibly damaging	Het
Krtap9-5	A	G	11: 99,839,800 (GRCm39)	K167R	unknown	Het
Lgalsl2	C	T	7: 5,362,440 (GRCm39)	R24C	probably benign	Het
Lipe	G	T	7: 25,080,036 (GRCm39)	T704K	probably benign	Het
Lrrc32	A	T	7: 98,147,414 (GRCm39)	I65F	possibly damaging	Het
Mogs	C	T	6: 83,093,188 (GRCm39)	H179Y	probably damaging	Het
Mtnr1b	A	T	9: 15,774,590 (GRCm39)	Y156*	probably null	Het
Mtus1	T	C	8: 41,537,590 (GRCm39)	H42R	probably benign	Het
Mx2	T	A	16: 97,346,918 (GRCm39)	D128E	probably benign	Het
Myof	A	T	19: 37,939,939 (GRCm39)	L829*	probably null	Het
Naip6	T	C	13: 100,420,359 (GRCm39)	K1304E	probably benign	Het
Neo1	A	C	9: 58,791,826 (GRCm39)	S1307R	probably benign	Het
Nipbl	A	T	15: 8,359,779 (GRCm39)	D1475E	probably benign	Het
Nlrp9b	T	A	7: 19,757,875 (GRCm39)	F371I	probably damaging	Het
Nrip1	A	T	16: 76,088,338 (GRCm39)	M1073K	probably damaging	Het
Obox6	T	C	7: 15,567,863 (GRCm39)	N195D	probably damaging	Het
Or13a18	T	A	7: 140,190,091 (GRCm39)	I4K	probably benign	Het
Or1j18	T	A	2: 36,624,650 (GRCm39)	F106I	probably benign	Het
Or5ac24	A	T	16: 59,165,687 (GRCm39)	C126S	probably damaging	Het
Or5b99	C	T	19: 12,976,922 (GRCm39)	H191Y	probably benign	Het
Or5p64	C	A	7: 107,855,045 (GRCm39)	C100F	probably damaging	Het
Pax7	T	C	4: 139,511,880 (GRCm39)	K232E	probably benign	Het
Phldb3	C	T	7: 24,310,689 (GRCm39)		probably benign	Het
Pkd1l1	C	A	11: 8,915,148 (GRCm39)	V131L		Het
Ppp2r5a	A	G	1: 191,128,532 (GRCm39)	S28P	probably benign	Het
Prl8a1	A	G	13: 27,758,068 (GRCm39)	S214P	probably damaging	Het
Prmt2	A	T	10: 76,056,838 (GRCm39)	C228*	probably null	Het
Prpf8	C	T	11: 75,399,738 (GRCm39)	R2266*	probably null	Het
Rabl6	A	G	2: 25,474,153 (GRCm39)	S648P	unknown	Het
Ralgapa1	T	C	12: 55,759,457 (GRCm39)	K1022R	probably damaging	Het
Ralgapb	T	A	2: 158,285,275 (GRCm39)	D591E	probably benign	Het
Rprd1a	A	G	18: 24,639,889 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,221,686 (GRCm39)	R165G	probably damaging	Het
Samd8	A	G	14: 21,842,491 (GRCm39)	E334G	probably benign	Het
Scn9a	T	A	2: 66,364,561 (GRCm39)	Q804L	probably damaging	Het
Sez6	A	G	11: 77,864,711 (GRCm39)	D557G	probably benign	Het
Sgsm1	A	T	5: 113,427,501 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,039,832 (GRCm39)	M290K		Het
Snd1	T	A	6: 28,531,449 (GRCm39)	V330E	probably benign	Het
Tceanc2	T	C	4: 107,022,852 (GRCm39)	K45R	probably damaging	Het
Tg	A	T	15: 66,568,437 (GRCm39)	I1375F	probably benign	Het
Tmem116	T	A	5: 121,633,124 (GRCm39)	I357K		Het
Tmem39a	G	T	16: 38,408,658 (GRCm39)	R407L	possibly damaging	Het
Tmem74	A	T	15: 43,730,761 (GRCm39)	M94K	probably benign	Het
Tpp1	C	T	7: 105,398,751 (GRCm39)	C226Y	probably damaging	Het
Trbv21	T	C	6: 41,179,861 (GRCm39)	I59T	not run	Het
Trim11	A	G	11: 58,869,463 (GRCm39)	D133G	probably benign	Het
Ugt2a3	A	G	5: 87,475,539 (GRCm39)		probably null	Het
Vmn2r104	G	T	17: 20,249,737 (GRCm39)	H845N	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb46	A	G	2: 181,065,512 (GRCm39)	S213P	probably benign	Het
Zdhhc13	C	A	7: 48,461,103 (GRCm39)	Y346*	probably null	Het
Zfp280b	A	T	10: 75,875,075 (GRCm39)	H318L	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
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'- GTGCACATGTGTATGTTAATAAGGG -3'
(R):5'- GTTTGCCCCGTGTATGAAAGAC -3'

Sequencing Primer
(F):5'- AAGAAGGTGTTGGATCCCCC -3'
(R):5'- CCGTGTATGAAAGACCCAAGCTTTAG -3'

Posted On

2019-10-07