Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01896:Ubap2'

179416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubap2

Ensembl Gene

ENSMUSG00000028433

Gene Name

ubiquitin-associated protein 2

Synonyms

1190005K07Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

IGL01896

Quality Score

Status

Chromosome

Chromosomal Location

41194313-41275144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41202362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 689 (P689T)

Ref Sequence

ENSEMBL: ENSMUSP00000103703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030143] [ENSMUST00000108068] [ENSMUST00000135323]

AlphaFold

Q91VX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030143
AA Change: P690T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: P690T

Domain	Start	End	E-Value	Type
UBA	53	91	9.62e-8	SMART
low complexity region	115	127	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC
low complexity region	256	266	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
low complexity region	436	448	N/A	INTRINSIC
Pfam:DUF3697	512	544	1.5e-18	PFAM
low complexity region	583	618	N/A	INTRINSIC
low complexity region	631	644	N/A	INTRINSIC
low complexity region	696	722	N/A	INTRINSIC
low complexity region	744	768	N/A	INTRINSIC
low complexity region	787	800	N/A	INTRINSIC
low complexity region	888	914	N/A	INTRINSIC
low complexity region	1007	1024	N/A	INTRINSIC
low complexity region	1057	1078	N/A	INTRINSIC
low complexity region	1084	1098	N/A	INTRINSIC
low complexity region	1101	1115	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108068
AA Change: P689T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: P689T

Domain	Start	End	E-Value	Type
UBA	52	90	9.62e-8	SMART
low complexity region	114	126	N/A	INTRINSIC
low complexity region	129	143	N/A	INTRINSIC
low complexity region	165	184	N/A	INTRINSIC
low complexity region	255	265	N/A	INTRINSIC
low complexity region	340	357	N/A	INTRINSIC
low complexity region	435	447	N/A	INTRINSIC
Pfam:DUF3697	511	543	1.2e-20	PFAM
low complexity region	582	617	N/A	INTRINSIC
low complexity region	630	643	N/A	INTRINSIC
low complexity region	695	721	N/A	INTRINSIC
low complexity region	743	767	N/A	INTRINSIC
low complexity region	786	799	N/A	INTRINSIC
low complexity region	887	913	N/A	INTRINSIC
low complexity region	1006	1023	N/A	INTRINSIC
low complexity region	1056	1077	N/A	INTRINSIC
low complexity region	1083	1097	N/A	INTRINSIC
low complexity region	1100	1114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135323

SMART Domains

Protein: ENSMUSP00000122256
Gene: ENSMUSG00000028433

Domain	Start	End	E-Value	Type
low complexity region	74	91	N/A	INTRINSIC
low complexity region	169	181	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158640

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,154 (GRCm39)	F509Y	possibly damaging	Het
Acot11	T	A	4: 106,628,564 (GRCm39)	I75F	probably damaging	Het
Atp1a2	T	A	1: 172,113,578 (GRCm39)	N427Y	probably damaging	Het
Cd19	T	C	7: 126,013,522 (GRCm39)	D89G	possibly damaging	Het
Clca3a1	T	A	3: 144,721,438 (GRCm39)	T378S	possibly damaging	Het
Cltc	A	T	11: 86,615,959 (GRCm39)	C436S	probably damaging	Het
Def8	G	A	8: 124,186,634 (GRCm39)	V429M	probably benign	Het
Dnah9	A	T	11: 66,021,492 (GRCm39)	D311E	possibly damaging	Het
Dpy19l4	T	C	4: 11,267,752 (GRCm39)	K396R	possibly damaging	Het
Eif4b	T	C	15: 102,003,721 (GRCm39)	S597P	probably benign	Het
Ezh1	A	T	11: 101,104,581 (GRCm39)	N155K	probably benign	Het
Glud1	A	G	14: 34,041,862 (GRCm39)	S157G	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5600	T	C	7: 113,307,221 (GRCm39)		noncoding transcript	Het
Hnf4g	T	A	3: 3,716,470 (GRCm39)	V298E	probably damaging	Het
Hspd1	C	T	1: 55,118,268 (GRCm39)	R446Q	probably benign	Het
Lyst	A	G	13: 13,810,162 (GRCm39)	I611V	probably benign	Het
Map4k3	T	C	17: 80,921,360 (GRCm39)	E524G	probably benign	Het
Mepe	A	G	5: 104,486,135 (GRCm39)	D425G	possibly damaging	Het
Myo1a	G	T	10: 127,555,773 (GRCm39)	V921L	probably benign	Het
Plxdc1	A	T	11: 97,815,408 (GRCm39)	M470K	probably damaging	Het
Prim1	A	G	10: 127,858,758 (GRCm39)	Y222C	probably damaging	Het
Ptpn13	A	G	5: 103,649,389 (GRCm39)	N264S	possibly damaging	Het
Qrsl1	T	C	10: 43,752,500 (GRCm39)	D441G	probably benign	Het
Samd9l	G	T	6: 3,375,120 (GRCm39)	Q714K	probably benign	Het
Scrib	T	C	15: 75,937,967 (GRCm39)	E293G	possibly damaging	Het
Slc12a2	T	A	18: 58,029,380 (GRCm39)	N255K	probably benign	Het
Slc6a6	T	C	6: 91,703,050 (GRCm39)	I141T	probably damaging	Het
Slc9a1	T	C	4: 133,145,370 (GRCm39)	L485P	probably damaging	Het
Slfn8	A	T	11: 82,894,522 (GRCm39)	Y706N	probably damaging	Het
Tlr5	T	C	1: 182,802,444 (GRCm39)	F583L	possibly damaging	Het
Tmprss15	A	G	16: 78,887,678 (GRCm39)	V43A	probably benign	Het
Ttc24	T	C	3: 87,977,720 (GRCm39)		probably null	Het
Ttc7	A	G	17: 87,666,552 (GRCm39)	T606A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wfdc8	A	T	2: 164,447,700 (GRCm39)	M120K	probably damaging	Het

Other mutations in Ubap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Ubap2	APN	4	41,195,328 (GRCm39)	splice site	probably benign
IGL01109:Ubap2	APN	4	41,195,155 (GRCm39)	missense	probably damaging	1.00
IGL01354:Ubap2	APN	4	41,207,005 (GRCm39)	missense	probably damaging	1.00
IGL01563:Ubap2	APN	4	41,195,998 (GRCm39)	missense	probably damaging	0.96
IGL01602:Ubap2	APN	4	41,227,237 (GRCm39)	missense	probably damaging	1.00
IGL01605:Ubap2	APN	4	41,227,237 (GRCm39)	missense	probably damaging	1.00
IGL01688:Ubap2	APN	4	41,226,308 (GRCm39)	missense	probably benign
IGL01733:Ubap2	APN	4	41,195,862 (GRCm39)	unclassified	probably benign
IGL01942:Ubap2	APN	4	41,251,608 (GRCm39)	missense	probably benign	0.00
IGL02095:Ubap2	APN	4	41,229,709 (GRCm39)	missense	probably benign
R0608:Ubap2	UTSW	4	41,218,319 (GRCm39)	missense	probably benign	0.10
R0938:Ubap2	UTSW	4	41,202,304 (GRCm39)	missense	probably damaging	1.00
R1449:Ubap2	UTSW	4	41,209,351 (GRCm39)	critical splice donor site	probably null
R1484:Ubap2	UTSW	4	41,235,593 (GRCm39)	missense	probably damaging	1.00
R1548:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R1549:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R1604:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R1607:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R1739:Ubap2	UTSW	4	41,206,849 (GRCm39)	missense	probably benign	0.00
R1772:Ubap2	UTSW	4	41,202,380 (GRCm39)	missense	probably benign	0.02
R1862:Ubap2	UTSW	4	41,221,607 (GRCm39)	missense	probably benign
R1869:Ubap2	UTSW	4	41,233,617 (GRCm39)	missense	probably damaging	1.00
R1886:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R1887:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R2063:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R2064:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R2065:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R2066:Ubap2	UTSW	4	41,199,872 (GRCm39)	missense	probably benign	0.12
R2095:Ubap2	UTSW	4	41,206,901 (GRCm39)	missense	possibly damaging	0.68
R2214:Ubap2	UTSW	4	41,199,714 (GRCm39)	critical splice donor site	probably null
R2215:Ubap2	UTSW	4	41,196,483 (GRCm39)	splice site	probably null
R2318:Ubap2	UTSW	4	41,251,542 (GRCm39)	missense	probably damaging	0.99
R3755:Ubap2	UTSW	4	41,195,482 (GRCm39)	missense	probably damaging	1.00
R4620:Ubap2	UTSW	4	41,233,698 (GRCm39)	missense	probably damaging	1.00
R4717:Ubap2	UTSW	4	41,218,333 (GRCm39)	missense	possibly damaging	0.93
R4756:Ubap2	UTSW	4	41,211,771 (GRCm39)	missense	probably damaging	1.00
R4942:Ubap2	UTSW	4	41,245,461 (GRCm39)	intron	probably benign
R5344:Ubap2	UTSW	4	41,251,578 (GRCm39)	missense	possibly damaging	0.46
R5763:Ubap2	UTSW	4	41,195,809 (GRCm39)	missense	probably damaging	1.00
R5851:Ubap2	UTSW	4	41,206,268 (GRCm39)	nonsense	probably null
R5951:Ubap2	UTSW	4	41,205,753 (GRCm39)	splice site	probably null
R6178:Ubap2	UTSW	4	41,206,981 (GRCm39)	missense	probably benign
R6489:Ubap2	UTSW	4	41,203,574 (GRCm39)	critical splice acceptor site	probably null
R6520:Ubap2	UTSW	4	41,195,155 (GRCm39)	missense	probably damaging	1.00
R6652:Ubap2	UTSW	4	41,196,743 (GRCm39)	missense	possibly damaging	0.68
R6702:Ubap2	UTSW	4	41,227,210 (GRCm39)	small insertion	probably benign
R6736:Ubap2	UTSW	4	41,227,224 (GRCm39)	small insertion	probably benign
R6736:Ubap2	UTSW	4	41,227,210 (GRCm39)	small insertion	probably benign
R6860:Ubap2	UTSW	4	41,233,631 (GRCm39)	missense	probably damaging	1.00
R7007:Ubap2	UTSW	4	41,206,221 (GRCm39)	missense	probably damaging	0.97
R7048:Ubap2	UTSW	4	41,196,033 (GRCm39)	missense	possibly damaging	0.49
R7121:Ubap2	UTSW	4	41,205,550 (GRCm39)	missense	probably benign	0.00
R7371:Ubap2	UTSW	4	41,195,779 (GRCm39)	missense	probably benign	0.16
R7378:Ubap2	UTSW	4	41,235,515 (GRCm39)	critical splice donor site	probably null
R7695:Ubap2	UTSW	4	41,211,740 (GRCm39)	missense	probably damaging	0.98
R7811:Ubap2	UTSW	4	41,211,710 (GRCm39)	missense	probably benign	0.22
R7828:Ubap2	UTSW	4	41,221,615 (GRCm39)	missense	probably benign	0.00
R7838:Ubap2	UTSW	4	41,233,655 (GRCm39)	missense	probably damaging	1.00
R8016:Ubap2	UTSW	4	41,195,201 (GRCm39)	missense	possibly damaging	0.91
R8790:Ubap2	UTSW	4	41,209,351 (GRCm39)	critical splice donor site	probably null
R8817:Ubap2	UTSW	4	41,223,425 (GRCm39)	missense	possibly damaging	0.66
R9379:Ubap2	UTSW	4	41,216,630 (GRCm39)	missense	possibly damaging	0.67
R9470:Ubap2	UTSW	4	41,195,434 (GRCm39)	missense	possibly damaging	0.64
R9536:Ubap2	UTSW	4	41,195,661 (GRCm39)	missense	probably benign	0.01
X0061:Ubap2	UTSW	4	41,196,507 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07