Mutagenetix > Incidental Mutation

Incidental Mutation 'R8556:Uaca'

660113

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

068519-MU

Accession Numbers

Essential gene?

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

Stock #

R8556 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60777923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 768 (K768M)

Ref Sequence

ENSEMBL: ENSMUSP00000151172 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050183
AA Change: K770M

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: K770M

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: K768M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	A	T	11: 69,904,376 (GRCm39)	M148K	probably benign	Het
Adcy2	T	C	13: 68,779,094 (GRCm39)	Y982C	possibly damaging	Het
Adgrl4	T	C	3: 151,216,302 (GRCm39)	I495T	probably damaging	Het
Ankfn1	A	T	11: 89,332,268 (GRCm39)	I426K	possibly damaging	Het
Birc6	T	G	17: 74,864,949 (GRCm39)	S236R	probably benign	Het
Cdan1	C	T	2: 120,553,471 (GRCm39)	V971M	probably damaging	Het
Col6a4	A	G	9: 105,944,252 (GRCm39)	F1074S	probably damaging	Het
Crk	A	G	11: 75,583,347 (GRCm39)	K189R	probably benign	Het
Dennd5b	A	G	6: 148,895,268 (GRCm39)	L1254P	probably damaging	Het
Dlec1	A	G	9: 118,955,289 (GRCm39)	T658A	probably benign	Het
Dock2	T	C	11: 34,212,457 (GRCm39)	D1228G	possibly damaging	Het
Dync2h1	T	C	9: 7,113,198 (GRCm39)	Y209C	probably benign	Het
Edem3	G	A	1: 151,660,586 (GRCm39)	V283I	possibly damaging	Het
Elavl1	A	G	8: 4,345,388 (GRCm39)	S202P	possibly damaging	Het
Eprs1	G	A	1: 185,152,485 (GRCm39)		probably null	Het
Esp31	A	T	17: 38,951,942 (GRCm39)	M1L	probably benign	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Helz2	A	G	2: 180,871,350 (GRCm39)	V2754A	probably damaging	Het
Hgsnat	C	T	8: 26,443,308 (GRCm39)		probably null	Het
Hoxb6	G	T	11: 96,191,543 (GRCm39)	R155L	probably damaging	Het
Igkv6-17	T	C	6: 70,348,746 (GRCm39)	V39A	probably damaging	Het
Iqgap1	G	A	7: 80,375,787 (GRCm39)	L1363F	probably damaging	Het
Lcor	TCA	T	19: 41,546,863 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,382,136 (GRCm39)	S476P	probably damaging	Het
Mdh1b	A	C	1: 63,750,141 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,552,233 (GRCm39)	I4687L	probably benign	Het
Mylk3	T	C	8: 86,053,902 (GRCm39)	M672V	possibly damaging	Het
Nbea	A	G	3: 55,554,807 (GRCm39)	F2614L	probably benign	Het
Or4p8	A	T	2: 88,727,382 (GRCm39)	C186*	probably null	Het
Otop3	T	A	11: 115,235,782 (GRCm39)	D471E	probably benign	Het
Pds5b	G	A	5: 150,716,073 (GRCm39)	M1077I	probably benign	Het
Plppr5	T	A	3: 117,465,679 (GRCm39)	L310Q	probably benign	Het
Ptpn13	G	A	5: 103,707,038 (GRCm39)	E1416K	probably damaging	Het
Ptprj	A	G	2: 90,271,044 (GRCm39)	L1228P	probably damaging	Het
Rbm12	T	C	2: 155,938,481 (GRCm39)	D597G	probably damaging	Het
Ret	A	G	6: 118,146,149 (GRCm39)	F777L	probably damaging	Het
Rrbp1	A	T	2: 143,831,045 (GRCm39)	V374D	possibly damaging	Het
Scin	T	C	12: 40,127,593 (GRCm39)		probably null	Het
Serpina1a	T	A	12: 103,822,229 (GRCm39)	K234N	probably damaging	Het
Snx20	T	A	8: 89,356,661 (GRCm39)	M52L	probably benign	Het
Svs6	T	C	2: 164,159,485 (GRCm39)	S83P	possibly damaging	Het
Tdp1	T	C	12: 99,857,527 (GRCm39)	S29P	probably benign	Het
Tet1	T	C	10: 62,675,985 (GRCm39)	N697S	probably benign	Het
Trgc4	A	G	13: 19,528,952 (GRCm39)		probably benign	Het
Trpv3	A	G	11: 73,178,291 (GRCm39)	I453V	probably benign	Het
Trrap	T	C	5: 144,762,747 (GRCm39)	F2407L	probably benign	Het
Tsc22d4	T	C	5: 137,745,849 (GRCm39)	S158P	probably damaging	Het
Wdr20rt	G	A	12: 65,273,739 (GRCm39)	V228I	probably benign	Het
Zbtb7b	T	C	3: 89,300,444 (GRCm39)		probably null	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
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
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'- CGGAGGAGCATGAACAGCTC -3'
(R):5'- AGTTCTGCGATATTGGATTTCAGAC -3'

Sequencing Primer
(F):5'- CTCAGAAGCAGGTTGGAGC -3'
(R):5'- GCGATATTGGATTTCAGACCCATTAG -3'

Posted On

2021-01-18