Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03346:Uaca'

417455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uaca

Ensembl Gene

ENSMUSG00000034485

Gene Name

uveal autoantigen with coiled-coil domains and ankyrin repeats

Synonyms

nucling, 2700059D02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03346

Quality Score

Status

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60761600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 204 (T204K)

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: T204K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: T204K

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: T204K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000217656
AA Change: T198K

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	C	T	16: 29,133,422 (GRCm39)	V410M	probably benign	Het
Cdkn2aip	G	T	8: 48,166,653 (GRCm39)	D51E	probably benign	Het
Chd6	A	G	2: 160,802,282 (GRCm39)	V2184A	probably benign	Het
Clcn1	C	T	6: 42,288,153 (GRCm39)	T797I	probably benign	Het
Cldn23	G	A	8: 36,292,594 (GRCm39)		probably benign	Het
Cntnap4	A	G	8: 113,500,208 (GRCm39)	D500G	probably benign	Het
Cog5	A	T	12: 31,944,037 (GRCm39)	I641F	possibly damaging	Het
Cr2	A	T	1: 194,852,067 (GRCm39)	V94E	probably damaging	Het
Creg2	T	G	1: 39,689,915 (GRCm39)	D65A	probably damaging	Het
Dennd4a	A	G	9: 64,795,808 (GRCm39)	R711G	possibly damaging	Het
Efr3b	A	G	12: 4,034,648 (GRCm39)	V58A	probably damaging	Het
Fbxo3	A	G	2: 103,880,639 (GRCm39)	T250A	probably damaging	Het
Fzr1	T	C	10: 81,205,018 (GRCm39)	T300A	probably benign	Het
Gabrg1	A	T	5: 70,935,474 (GRCm39)	Y227N	possibly damaging	Het
Gins3	A	G	8: 96,369,903 (GRCm39)	I197V	probably benign	Het
Gm17079	T	C	14: 51,930,420 (GRCm39)	T142A	possibly damaging	Het
Gna15	T	C	10: 81,338,879 (GRCm39)	Y320C	probably damaging	Het
H2-T5	C	A	17: 36,479,001 (GRCm39)	D83Y	probably damaging	Het
Hibch	G	A	1: 52,959,539 (GRCm39)		probably benign	Het
Kif5b	G	A	18: 6,222,767 (GRCm39)	R355W	probably damaging	Het
Klf1	T	C	8: 85,629,561 (GRCm39)	S129P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Nat8f5	A	G	6: 85,794,640 (GRCm39)	S107P	probably damaging	Het
Or2t49	A	G	11: 58,392,581 (GRCm39)	L267P	possibly damaging	Het
Or8g24	T	A	9: 38,989,258 (GRCm39)	Q261L	probably damaging	Het
Or8g24	C	A	9: 38,989,257 (GRCm39)	Q261H	probably benign	Het
Pcdhb18	G	A	18: 37,622,674 (GRCm39)	M1I	probably null	Het
Plcb3	A	G	19: 6,932,420 (GRCm39)	F1080L	probably benign	Het
Polr2g	T	C	19: 8,775,669 (GRCm39)	H14R	probably damaging	Het
Rp1l1	A	G	14: 64,266,889 (GRCm39)	D825G	probably benign	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Slc25a54	T	C	3: 108,993,046 (GRCm39)		probably benign	Het
Smad9	C	A	3: 54,696,636 (GRCm39)	Q234K	probably benign	Het
Tie1	T	C	4: 118,330,025 (GRCm39)	Y1066C	probably damaging	Het
Traf1	T	C	2: 34,838,484 (GRCm39)	E118G	probably benign	Het
Ttc21b	T	C	2: 66,068,192 (GRCm39)	D278G	possibly damaging	Het
Utrn	A	T	10: 12,401,096 (GRCm39)	Y154N	probably benign	Het
Virma	A	G	4: 11,518,984 (GRCm39)	T694A	probably benign	Het
Vmn2r50	T	C	7: 9,779,929 (GRCm39)	D500G	probably damaging	Het
Vmn2r59	T	A	7: 41,693,253 (GRCm39)	H449L	probably benign	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
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
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

Posted On

2016-08-02