Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Ubap2'

572067

Institutional Source

Beutler Lab

Gene Symbol

Ubap2

Ensembl Gene

ENSMUSG00000028433

Gene Name

ubiquitin-associated protein 2

Synonyms

1190005K07Rik

MMRRC Submission

045454-MU

Accession Numbers

Essential gene?

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

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41194313-41275144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41195779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 1005 (P1005T)

Ref Sequence

ENSEMBL: ENSMUSP00000030143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030143] [ENSMUST00000040008] [ENSMUST00000108068]

AlphaFold

Q91VX2

Predicted Effect

probably benign
Transcript: ENSMUST00000030143
AA Change: P1005T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: P1005T

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 benign
Transcript: ENSMUST00000040008

SMART Domains

Protein: ENSMUSP00000038813
Gene: ENSMUSG00000036241

Domain	Start	End	E-Value	Type
UBCc	11	174	1.55e-65	SMART
low complexity region	204	232	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108068
AA Change: P1004T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: P1004T

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: ENSMUST00000136057

SMART Domains

Protein: ENSMUSP00000120205
Gene: ENSMUSG00000028433

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
low complexity region	49	70	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
low complexity region	117	136	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	C	12: 81,607,064 (GRCm39)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,571,067 (GRCm39)	H1222L	probably benign	Het
Aftph	T	C	11: 20,676,836 (GRCm39)	T258A	probably benign	Het
Ano3	A	C	2: 110,715,194 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,303,013 (GRCm39)	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,955,750 (GRCm39)	I133N	probably damaging	Het
Borcs7	T	A	19: 46,688,057 (GRCm39)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,285,670 (GRCm39)	I774N	probably benign	Het
Catsperd	A	T	17: 56,957,801 (GRCm39)	Y236F	probably benign	Het
Cblc	T	C	7: 19,526,828 (GRCm39)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,100,537 (GRCm39)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,263,195 (GRCm39)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,878,186 (GRCm39)	G109R	probably damaging	Het
Cdh3	T	A	8: 107,279,109 (GRCm39)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,174,145 (GRCm39)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,457,652 (GRCm39)	H55P	possibly damaging	Het
Celsr1	C	T	15: 85,914,875 (GRCm39)	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,725,683 (GRCm39)	S807G	probably benign	Het
Ces1b	A	G	8: 93,783,982 (GRCm39)		probably null	Het
Chn1	T	C	2: 73,510,234 (GRCm39)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,263,365 (GRCm39)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm39)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,049,459 (GRCm39)	N629S	probably benign	Het
Cpd	T	C	11: 76,737,437 (GRCm39)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,484,775 (GRCm39)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,509,203 (GRCm39)	A38V	probably benign	Het
Cry1	A	T	10: 84,983,783 (GRCm39)	H224Q	probably benign	Het
Ctr9	T	A	7: 110,633,014 (GRCm39)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,087,144 (GRCm39)	N479I	probably benign	Het
Dip2c	A	G	13: 9,642,785 (GRCm39)	N672D	probably benign	Het
Dnah14	T	C	1: 181,454,450 (GRCm39)	V820A	probably benign	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fgb	T	C	3: 82,953,359 (GRCm39)	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,239,293 (GRCm39)	V604A	possibly damaging	Het
Flii	A	T	11: 60,609,090 (GRCm39)	N682K	probably benign	Het
Fmo3	A	G	1: 162,781,796 (GRCm39)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,607,385 (GRCm39)	M538L	probably benign	Het
Gbp11	A	G	5: 105,489,971 (GRCm39)	V69A	probably benign	Het
Ggn	T	A	7: 28,871,605 (GRCm39)	D364E	probably benign	Het
Gm10377	G	A	14: 42,614,853 (GRCm39)	P171S	probably benign	Het
Gramd4	C	T	15: 86,019,607 (GRCm39)	A625V	probably benign	Het
Il2ra	T	A	2: 11,647,831 (GRCm39)	M7K	probably benign	Het
Iqgap2	A	T	13: 95,836,846 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,888,906 (GRCm39)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,544,638 (GRCm39)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 86,995,729 (GRCm39)	T402A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,828,823 (GRCm39)	Q347L	probably damaging	Het
Map3k21	T	A	8: 126,661,804 (GRCm39)	I467N	probably damaging	Het
Mastl	A	T	2: 23,030,585 (GRCm39)	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,205,368 (GRCm39)	T268K	probably benign	Het
Mmp17	G	A	5: 129,682,836 (GRCm39)	G492S	probably null	Het
Myc	T	A	15: 61,860,031 (GRCm39)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,117,848 (GRCm39)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,201,680 (GRCm39)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,376 (GRCm39)		probably null	Het
Oog4	T	C	4: 143,165,346 (GRCm39)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,904,469 (GRCm39)	Y101*	probably null	Het
Or4l15	A	T	14: 50,198,563 (GRCm39)		probably null	Het
Or56a5	A	G	7: 104,793,086 (GRCm39)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,664,587 (GRCm39)	E425G	probably benign	Het
Piwil4	A	C	9: 14,638,729 (GRCm39)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,076,212 (GRCm39)	M47T	possibly damaging	Het
Potefam1	A	T	2: 111,023,826 (GRCm39)	S475T	unknown	Het
Prkcg	G	A	7: 3,368,069 (GRCm39)	G372D	probably benign	Het
Prune2	A	G	19: 17,096,734 (GRCm39)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Rab3gap2	C	G	1: 184,983,265 (GRCm39)	A468G	probably damaging	Het
Ralb	A	G	1: 119,400,129 (GRCm39)	L123P		Het
Ralgapa2	G	A	2: 146,189,046 (GRCm39)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,122,926 (GRCm39)	C44F	probably benign	Het
Satb1	C	A	17: 52,090,008 (GRCm39)	E280*	probably null	Het
Sec1	T	C	7: 45,328,034 (GRCm39)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,331,734 (GRCm39)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,656,086 (GRCm39)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,620,305 (GRCm39)	T525S	probably benign	Het
Skor1	T	C	9: 63,054,169 (GRCm39)		probably null	Het
Spc24	A	G	9: 21,668,664 (GRCm39)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,616,675 (GRCm39)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,689,422 (GRCm39)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,997,890 (GRCm39)	I1149N	probably damaging	Het
Tph2	A	T	10: 114,987,016 (GRCm39)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,879,557 (GRCm39)	M781L	probably benign	Het
Upf2	A	G	2: 5,965,851 (GRCm39)	E157G	unknown	Het
Urb2	C	A	8: 124,755,008 (GRCm39)	D238E	probably benign	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Zc3h18	T	A	8: 123,139,760 (GRCm39)	S734T	unknown	Het
Zmym6	T	A	4: 126,998,106 (GRCm39)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,041,251 (GRCm39)	K207R	probably benign	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
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
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'- GTTGAACTGCACTCTTCGCC -3'
(R):5'- TTACAGCACAGGTAAGGACTG -3'

Sequencing Primer
(F):5'- TGTGCGACCTCACCTGTG -3'
(R):5'- GGTAAGGACTGCATCACTCC -3'

Posted On

2019-09-13