Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02868:Uaca'

362399

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 #

IGL02868

Quality Score

Status

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60770919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 362 (K362M)

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: K364M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: K364M

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: K362M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216574

Predicted Effect

unknown
Transcript: ENSMUST00000217656
AA Change: K356M

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap4	A	G	X: 72,944,008 (GRCm39)	I224T	probably benign	Het
Atp12a	A	G	14: 56,621,639 (GRCm39)	D758G	probably damaging	Het
Clca3b	C	A	3: 144,533,325 (GRCm39)	G569V	probably damaging	Het
Dlgap4	G	A	2: 156,542,816 (GRCm39)	R73Q	probably damaging	Het
Efcc1	C	T	6: 87,728,743 (GRCm39)		probably benign	Het
Eno3	T	A	11: 70,552,826 (GRCm39)	V369E	probably damaging	Het
Espl1	T	A	15: 102,222,425 (GRCm39)	C1022*	probably null	Het
Grhl3	T	C	4: 135,281,915 (GRCm39)	D319G	probably damaging	Het
Huwe1	G	A	X: 150,691,829 (GRCm39)	R2538H	possibly damaging	Het
Lrrc37	A	T	11: 103,505,965 (GRCm39)	L2001H	probably benign	Het
Ms4a4d	T	A	19: 11,527,646 (GRCm39)	I51N	probably damaging	Het
Mtmr9	T	C	14: 63,761,588 (GRCm39)	N522S	probably benign	Het
Nfe2l1	A	G	11: 96,710,966 (GRCm39)	I133T	probably damaging	Het
Ninl	A	G	2: 150,778,974 (GRCm39)	Y1296H	probably benign	Het
Nipal3	A	G	4: 135,194,182 (GRCm39)	S284P	probably damaging	Het
Or4k40	A	T	2: 111,250,838 (GRCm39)	F153I	possibly damaging	Het
Or5g9	A	T	2: 85,551,919 (GRCm39)	T57S	probably benign	Het
Pramel5	G	T	4: 143,997,922 (GRCm39)	N440K	probably benign	Het
Rabep1	T	C	11: 70,765,572 (GRCm39)	V12A	probably benign	Het
Rbm5	G	T	9: 107,626,899 (GRCm39)		probably benign	Het
Ric3	T	C	7: 108,653,626 (GRCm39)	E155G	probably damaging	Het
Slc12a7	T	A	13: 73,954,507 (GRCm39)	M897K	probably benign	Het
Slc39a8	G	T	3: 135,561,787 (GRCm39)	A169S	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Synrg	G	A	11: 83,877,876 (GRCm39)		probably benign	Het
Tas2r107	T	C	6: 131,636,249 (GRCm39)	T267A	probably benign	Het
Tead3	G	T	17: 28,552,069 (GRCm39)	Y354*	probably null	Het
Trim3	T	C	7: 105,262,239 (GRCm39)	K579R	possibly damaging	Het
Vmn2r94	A	G	17: 18,464,316 (GRCm39)	I658T	possibly damaging	Het
Vps13b	C	T	15: 35,884,665 (GRCm39)	P3113S	probably benign	Het
Zfp251	A	G	15: 76,738,734 (GRCm39)	S115P	probably damaging	Het
Zfp683	G	A	4: 133,783,177 (GRCm39)	V214M	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
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
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

2015-12-18