Mutagenetix > Incidental Mutation

Incidental Mutation 'R2318:Ubap2'

245547

Institutional Source

Beutler Lab

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 #

R2318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41194313-41275144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41251542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000103703 (fasta)

Gene Model

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

AlphaFold

Q91VX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030143
AA Change: V31A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: V31A

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

probably damaging
Transcript: ENSMUST00000108068
AA Change: V30A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: V30A

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: ENSMUST00000118435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132499

Predicted Effect

unknown
Transcript: ENSMUST00000134782
AA Change: W26R

SMART Domains

Protein: ENSMUSP00000121724
Gene: ENSMUSG00000028433
AA Change: W26R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10	G	A	8: 14,978,855 (GRCm39)	A41T	probably damaging	Het
Car15	T	C	16: 17,654,463 (GRCm39)	M158V	probably benign	Het
Cinp	C	A	12: 110,840,443 (GRCm39)	W113L	probably damaging	Het
Col4a3	T	A	1: 82,626,290 (GRCm39)		probably null	Het
Csnk2b	T	C	17: 35,337,037 (GRCm39)	Y101C	possibly damaging	Het
Ddb1	C	T	19: 10,603,992 (GRCm39)	R900C	probably damaging	Het
Eif4g2	A	G	7: 110,673,065 (GRCm39)	F876L	possibly damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
H4c4	A	G	13: 23,765,739 (GRCm39)	Y52C	probably damaging	Het
Mast1	T	C	8: 85,647,754 (GRCm39)	D540G	probably damaging	Het
Mis18bp1	C	T	12: 65,187,617 (GRCm39)	V829M	possibly damaging	Het
Mtus2	C	T	5: 148,043,892 (GRCm39)	R827*	probably null	Het
Nlrp9a	G	A	7: 26,273,277 (GRCm39)	V860M	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prr14l	T	C	5: 32,987,422 (GRCm39)	E691G	probably benign	Het
Rad1	A	G	15: 10,490,495 (GRCm39)	N154S	probably benign	Het
Sanbr	A	G	11: 23,538,701 (GRCm39)	Y66H	probably damaging	Het
Slc10a4-ps	T	C	5: 72,743,638 (GRCm39)	T27A	probably benign	Het
Smc2	T	C	4: 52,446,030 (GRCm39)	S133P	probably damaging	Het
Sstr1	T	A	12: 58,259,562 (GRCm39)	S62T	possibly damaging	Het
Thsd7a	T	C	6: 12,405,146 (GRCm39)	Y766C	probably damaging	Het
Timm44	A	G	8: 4,318,307 (GRCm39)	V129A	probably benign	Het
Tinag	T	C	9: 76,952,693 (GRCm39)	Y97C	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAATTCGGAACTACACAATG -3'
(R):5'- CCCACTCCCCGAATTAGATG -3'

Sequencing Primer
(F):5'- TCGGAACTACACAATGATTCTCCTGG -3'
(R):5'- GTTTTGCTCACAATGCCT -3'

Posted On

2014-10-30