Mutagenetix > Incidental Mutation

Incidental Mutation 'R4717:Ubap2'

354108

Institutional Source

Beutler Lab

Gene Symbol

Ubap2

Ensembl Gene

ENSMUSG00000028433

Gene Name

ubiquitin-associated protein 2

Synonyms

1190005K07Rik

MMRRC Submission

041984-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41194313-41275144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41218333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 258 (T258I)

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: T259I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: T259I

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: T258I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: T258I

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

noncoding transcript
Transcript: ENSMUST00000132499

Predicted Effect

probably benign
Transcript: ENSMUST00000134782

SMART Domains

Protein: ENSMUSP00000121724
Gene: ENSMUSG00000028433

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
UBA	61	99	9.62e-8	SMART
low complexity region	123	135	N/A	INTRINSIC
low complexity region	138	152	N/A	INTRINSIC
low complexity region	174	193	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: ENSMUST00000177331

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,097,783 (GRCm39)	L60P	probably damaging	Het
Acsf2	T	G	11: 94,450,372 (GRCm39)	M512L	probably benign	Het
Ahrr	T	A	13: 74,363,885 (GRCm39)	H312L	probably benign	Het
Akr1c18	T	C	13: 4,186,717 (GRCm39)	M244V	probably benign	Het
Aldh3b2	A	G	19: 4,031,128 (GRCm39)	Y459C	probably damaging	Het
Arhgap29	A	T	3: 121,803,607 (GRCm39)	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,391,406 (GRCm39)	D287V	probably damaging	Het
Astn2	A	T	4: 65,562,991 (GRCm39)	I930N	possibly damaging	Het
Bace2	T	A	16: 97,238,073 (GRCm39)	L508Q	probably damaging	Het
Baz2a	G	T	10: 127,960,811 (GRCm39)	C1537F	possibly damaging	Het
Cad	A	G	5: 31,224,030 (GRCm39)		probably null	Het
Capn5	A	T	7: 97,773,126 (GRCm39)	I626N	probably benign	Het
Car8	A	T	4: 8,169,685 (GRCm39)	N274K	probably damaging	Het
Casp14	T	C	10: 78,550,958 (GRCm39)	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,882,925 (GRCm39)	V1649A	probably benign	Het
Cemip	A	T	7: 83,596,488 (GRCm39)	I1092N	probably damaging	Het
Clspn	A	G	4: 126,453,849 (GRCm39)	N91D	probably damaging	Het
Cpxm2	A	G	7: 131,656,574 (GRCm39)	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,473,749 (GRCm39)	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,318,285 (GRCm39)		probably null	Het
Cyp4x1	T	C	4: 114,978,902 (GRCm39)	H206R	probably benign	Het
Dapk1	T	A	13: 60,874,476 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,290,888 (GRCm39)	W76R	probably damaging	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah2	T	C	11: 69,320,183 (GRCm39)	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,642,113 (GRCm39)	C12S	possibly damaging	Het
Dock1	T	C	7: 134,449,899 (GRCm39)	I804T	probably damaging	Het
Efs	G	T	14: 55,157,801 (GRCm39)	S170Y	probably damaging	Het
Eml4	G	T	17: 83,755,654 (GRCm39)	W295C	probably benign	Het
Fkbp15	A	G	4: 62,226,306 (GRCm39)	S748P	probably damaging	Het
Ghr	T	G	15: 3,349,235 (GRCm39)	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,523,494 (GRCm39)	I942N	probably damaging	Het
Gpam	T	A	19: 55,064,046 (GRCm39)	E682D	probably benign	Het
Gsr	A	T	8: 34,183,886 (GRCm39)	K383*	probably null	Het
Hapln1	C	A	13: 89,753,579 (GRCm39)	S248R	probably benign	Het
Haus2	G	T	2: 120,449,583 (GRCm39)	R209L	probably benign	Het
Hhatl	A	G	9: 121,618,943 (GRCm39)	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,494,816 (GRCm39)	M4091T	probably benign	Het
Hspb7	A	G	4: 141,149,896 (GRCm39)	D94G	probably damaging	Het
Irf6	T	A	1: 192,849,742 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,381,878 (GRCm39)	L60*	probably null	Het
Jmjd1c	C	T	10: 66,993,830 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 191,959,025 (GRCm39)	D193G	probably damaging	Het
Klhl25	G	T	7: 75,516,528 (GRCm39)	C478F	probably damaging	Het
Klhl3	T	C	13: 58,178,330 (GRCm39)	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,762,708 (GRCm39)	H80Q	probably null	Het
Lhcgr	C	A	17: 89,049,895 (GRCm39)	V544F	probably benign	Het
Mfsd4a	T	C	1: 131,985,633 (GRCm39)	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881 (GRCm39)	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,293,000 (GRCm39)	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394 (GRCm39)	A562V	possibly damaging	Het
Nid1	T	C	13: 13,681,086 (GRCm39)	V1072A	probably benign	Het
Nsf	T	G	11: 103,714,595 (GRCm39)	K728T	probably damaging	Het
Or10ak7	T	C	4: 118,791,626 (GRCm39)	N140D	probably benign	Het
Or12j3	T	C	7: 139,953,328 (GRCm39)	N65S	probably damaging	Het
Or1e17	T	A	11: 73,831,641 (GRCm39)	S190T	possibly damaging	Het
Or2a5	T	C	6: 42,874,158 (GRCm39)	Y258H	probably damaging	Het
Or4k15b	A	T	14: 50,272,821 (GRCm39)	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,502,631 (GRCm39)	C894S	probably damaging	Het
Pde2a	A	G	7: 101,143,879 (GRCm39)	D166G	probably benign	Het
Pfpl	G	A	19: 12,406,618 (GRCm39)	E290K	probably benign	Het
Pi4kb	A	C	3: 94,906,162 (GRCm39)	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,041,622 (GRCm39)	C1727*	probably null	Het
Poln	A	T	5: 34,286,792 (GRCm39)	D125E	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,412 (GRCm39)	D259G	possibly damaging	Het
Prx	A	T	7: 27,216,152 (GRCm39)	M218L	probably benign	Het
Pxn	A	T	5: 115,690,001 (GRCm39)	Q342L	probably damaging	Het
Rhpn2	A	G	7: 35,033,775 (GRCm39)	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,400,174 (GRCm39)	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,591,075 (GRCm39)	T142K	probably damaging	Het
Sacs	T	C	14: 61,450,304 (GRCm39)	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,745,195 (GRCm39)	N700S	probably damaging	Het
Sec62	A	C	3: 30,864,020 (GRCm39)	K101Q	unknown	Het
Sel1l2	A	C	2: 140,071,943 (GRCm39)	L659R	possibly damaging	Het
Septin11	A	G	5: 93,304,815 (GRCm39)	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,642,107 (GRCm39)	E112K	probably damaging	Het
Spem2	T	C	11: 69,708,609 (GRCm39)	N119D	probably benign	Het
Themis	G	A	10: 28,665,748 (GRCm39)	E604K	probably benign	Het
Tie1	T	C	4: 118,343,414 (GRCm39)	K150E	probably damaging	Het
Top6bl	A	G	19: 4,675,901 (GRCm39)		probably benign	Het
Ushbp1	C	T	8: 71,838,313 (GRCm39)	A664T	probably damaging	Het
Vmn1r1	T	C	1: 181,984,774 (GRCm39)	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,402,637 (GRCm39)	I291L	probably damaging	Het
Yy1	A	G	12: 108,759,972 (GRCm39)	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,250,149 (GRCm39)	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,099,069 (GRCm39)	H632L	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
IGL01896:Ubap2	APN	4	41,202,362 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTTTCTAAGATCCATGTGCTAGG -3'
(R):5'- CTGTTTGGGAAGTATGATTTAAGGA -3'

Sequencing Primer
(F):5'- AACAACAAAAACCCAACTACTTGAG -3'
(R):5'- GATTGTCAAGTAAATACACAGAATC -3'

Posted On

2015-10-21