Mutagenetix > Incidental Mutation

Incidental Mutation 'R5130:Uaca'

394958

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

042718-MU

Accession Numbers

Essential gene?

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

Stock #

R5130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60787510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1409 (Q1409K)

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: Q1409K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: Q1409K

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

possibly damaging
Transcript: ENSMUST00000214354
AA Change: Q1407K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214997

Predicted Effect

unknown
Transcript: ENSMUST00000217656
AA Change: Q1231K

Meta Mutation Damage Score

0.1586

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

96% (51/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	C	1: 161,780,184 (GRCm39)	N110S	possibly damaging	Het
Acss3	T	C	10: 106,840,586 (GRCm39)	I392V	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef11	A	G	3: 87,633,321 (GRCm39)	H696R	possibly damaging	Het
Baiap3	G	T	17: 25,464,316 (GRCm39)	D847E	probably benign	Het
Cdc27	T	C	11: 104,425,600 (GRCm39)	K72R	probably benign	Het
Cry2	T	C	2: 92,254,944 (GRCm39)	E137G	probably benign	Het
Dhodh	A	T	8: 110,322,388 (GRCm39)	L237Q	possibly damaging	Het
Dscam	A	T	16: 96,620,979 (GRCm39)	N576K	probably benign	Het
Eng	A	G	2: 32,571,518 (GRCm39)	N636S	probably damaging	Het
Ephx2	A	T	14: 66,345,511 (GRCm39)	I151K	probably damaging	Het
Fahd1	A	G	17: 25,068,733 (GRCm39)	C115R	probably damaging	Het
Fer1l4	T	A	2: 155,891,386 (GRCm39)	I143F	possibly damaging	Het
Iqgap3	C	A	3: 88,016,161 (GRCm39)	N981K	probably damaging	Het
Kcna5	T	C	6: 126,511,496 (GRCm39)	I211V	probably benign	Het
Mcm9	A	T	10: 53,506,495 (GRCm39)	V14E	possibly damaging	Het
Mlh1	A	G	9: 111,058,906 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,809,367 (GRCm39)	K1775E	probably damaging	Het
Myo18b	T	C	5: 113,021,769 (GRCm39)	D541G	probably benign	Het
Ncapd2	A	T	6: 125,146,887 (GRCm39)	M1233K	possibly damaging	Het
Nf2	A	T	11: 4,779,862 (GRCm39)		probably benign	Het
Nova2	C	T	7: 18,660,069 (GRCm39)	T22I	unknown	Het
Or3a1d	A	T	11: 74,237,993 (GRCm39)	M19K	probably damaging	Het
Or7g28	T	A	9: 19,272,369 (GRCm39)	Y94F	possibly damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcdha2	A	T	18: 37,073,722 (GRCm39)	N451I	probably damaging	Het
Pcdhb12	T	A	18: 37,568,877 (GRCm39)	F8I	probably benign	Het
Pdzph1	A	C	17: 59,229,604 (GRCm39)	L1018W	probably damaging	Het
Prdm9	T	C	17: 15,764,729 (GRCm39)	R684G	probably benign	Het
Rabep1	T	A	11: 70,795,557 (GRCm39)	V261E	probably damaging	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Samd9l	A	T	6: 3,374,548 (GRCm39)	D904E	possibly damaging	Het
Siah3	A	T	14: 75,763,381 (GRCm39)	K211*	probably null	Het
Slc5a8	T	A	10: 88,762,077 (GRCm39)	N572K	probably benign	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Sowahb	T	A	5: 93,190,630 (GRCm39)	K696N	possibly damaging	Het
St7l	A	T	3: 104,803,080 (GRCm39)	H330L	probably damaging	Het
Tnrc6c	T	A	11: 117,629,176 (GRCm39)		probably null	Het
Ttc28	G	T	5: 111,040,722 (GRCm39)	V37F	probably benign	Het
V1rd19	T	A	7: 23,702,537 (GRCm39)	M1K	probably null	Het
Vmn1r225	A	G	17: 20,723,047 (GRCm39)	R163G	possibly damaging	Het
Wdr87-ps	T	C	7: 29,228,699 (GRCm39)		noncoding transcript	Het
Zc3h3	C	A	15: 75,651,139 (GRCm39)	V694L	probably damaging	Het
Zfp442	G	T	2: 150,251,530 (GRCm39)	T123K	possibly damaging	Het
Zmym1	A	T	4: 126,942,451 (GRCm39)	S646T	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
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

Predicted Primers

PCR Primer
(F):5'- TTGGTTTTCAGGAGCCCCTC -3'
(R):5'- ATCCACTGGAAAACTCGGTG -3'

Sequencing Primer
(F):5'- TCCGTGTGACCTGATGCC -3'
(R):5'- TCGGTGACACACTCATCTCAG -3'

Posted On

2016-06-21