Mutagenetix > Incidental Mutation

Incidental Mutation 'R4155:Uaca'

315093

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

040999-MU

Accession Numbers

Essential gene?

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

Stock #

R4155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60701824-60787652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60779035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1141 (S1141G)

Ref Sequence

ENSEMBL: ENSMUSP00000062047 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050183
AA Change: S1141G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062047
Gene: ENSMUSG00000034485
AA Change: S1141G

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: S1139G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216574

Predicted Effect

unknown
Transcript: ENSMUST00000217656
AA Change: S963G

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,644,018 (GRCm39)	F69I	possibly damaging	Het
Akt3	A	G	1: 176,924,543 (GRCm39)	I184T	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Armc2	A	G	10: 41,887,863 (GRCm39)	V40A	probably damaging	Het
Ash2l	A	G	8: 26,307,482 (GRCm39)	Y485H	probably damaging	Het
Atr	T	A	9: 95,770,177 (GRCm39)	C1202*	probably null	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,903,934 (GRCm39)	S1242R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Bsx	A	G	9: 40,787,632 (GRCm39)	E102G	probably benign	Het
Casq2	A	T	3: 102,040,418 (GRCm39)		probably null	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Copa	T	G	1: 171,928,992 (GRCm39)	N251K	probably damaging	Het
Cst8	C	A	2: 148,641,996 (GRCm39)	A31E	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Fbn2	C	A	18: 58,156,359 (GRCm39)	E2487*	probably null	Het
Hoxd9	A	G	2: 74,529,667 (GRCm39)	I308V	probably benign	Het
Ica1l	G	A	1: 60,053,052 (GRCm39)	A162V	possibly damaging	Het
Kcnj15	A	T	16: 95,097,166 (GRCm39)	K263*	probably null	Het
Mettl4	T	C	17: 95,048,003 (GRCm39)	M213V	probably benign	Het
Nalf1	T	A	8: 9,283,023 (GRCm39)	Y342F	possibly damaging	Het
Ncan	C	A	8: 70,562,727 (GRCm39)	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Or14a259	T	A	7: 86,013,270 (GRCm39)	I92L	probably benign	Het
Or4c127	A	G	2: 89,833,004 (GRCm39)	S85G	probably benign	Het
Or52s19	T	C	7: 103,008,363 (GRCm39)	T13A	probably benign	Het
Or8d1b	A	T	9: 38,887,451 (GRCm39)	T160S	probably damaging	Het
P2rx5	A	G	11: 73,062,655 (GRCm39)	T455A	probably damaging	Het
Pcdh1	T	A	18: 38,336,159 (GRCm39)	T159S	probably damaging	Het
Poln	A	G	5: 34,166,993 (GRCm39)	V755A	possibly damaging	Het
Pou4f1	C	T	14: 104,705,153 (GRCm39)	S6N	possibly damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Samd4	T	A	14: 47,290,403 (GRCm39)	M170K	possibly damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Tmcc1	C	T	6: 116,110,765 (GRCm39)	G176D	probably benign	Het
Tmem232	A	T	17: 65,743,328 (GRCm39)	M321K	probably damaging	Het
Tnfsf11	A	G	14: 78,537,309 (GRCm39)	M118T	probably benign	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Ttc27	T	G	17: 75,147,455 (GRCm39)	I669S	probably benign	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Wdr64	T	A	1: 175,597,172 (GRCm39)	L73H	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	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
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

Predicted Primers

PCR Primer
(F):5'- GGACCTGTCCCAAAAGTACAGC -3'
(R):5'- CCGTCTGGAGTTTGGAGACTTC -3'

Sequencing Primer
(F):5'- GTCCCAAAAGTACAGCGACGTG -3'
(R):5'- GAGACTTCCTTGGTTTTCTTCTGGC -3'

Posted On

2015-05-14