Mutagenetix > Incidental Mutation

Incidental Mutation 'R1449:Ubap2'

159112

Institutional Source

Beutler Lab

Gene Symbol

Ubap2

Ensembl Gene

ENSMUSG00000028433

Gene Name

ubiquitin-associated protein 2

Synonyms

1190005K07Rik

MMRRC Submission

039504-MU

Accession Numbers

Essential gene?

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

Stock #

R1449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41194313-41275144 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 41209351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122256 (fasta)

Gene Model

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

AlphaFold

Q91VX2

Predicted Effect

probably null
Transcript: ENSMUST00000030143

SMART Domains

Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433

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 null
Transcript: ENSMUST00000108068

SMART Domains

Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433

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 null
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: ENSMUST00000158683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177331

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 94.7%
20x: 87.4%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	G	4: 137,182,666 (GRCm39)	N274D	possibly damaging	Het
6430571L13Rik	T	A	9: 107,219,689 (GRCm39)	N47K	probably damaging	Het
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Abca13	A	G	11: 9,248,580 (GRCm39)	T2776A	probably damaging	Het
Adamts10	T	A	17: 33,764,613 (GRCm39)	V711D	probably damaging	Het
Adrb3	G	A	8: 27,717,415 (GRCm39)	R345C	probably damaging	Het
Ak7	T	C	12: 105,708,520 (GRCm39)	V325A	possibly damaging	Het
Armc6	G	A	8: 70,677,943 (GRCm39)	L129F	probably benign	Het
Bend6	T	C	1: 33,917,424 (GRCm39)	N10S	probably benign	Het
Bmpr1b	T	C	3: 141,577,134 (GRCm39)	E59G	possibly damaging	Het
Brd3	A	G	2: 27,340,263 (GRCm39)		probably null	Het
Brd3	A	G	2: 27,347,028 (GRCm39)	Y369H	probably damaging	Het
Cacna1e	C	T	1: 154,361,408 (GRCm39)		probably null	Het
Camk4	A	G	18: 33,072,528 (GRCm39)	D27G	probably damaging	Het
Camkk1	T	G	11: 72,924,710 (GRCm39)	S308A	probably damaging	Het
Catsperb	A	G	12: 101,554,456 (GRCm39)	T717A	probably benign	Het
Cdh23	A	T	10: 60,212,730 (GRCm39)	S1563R	probably damaging	Het
Cep44	A	T	8: 56,993,985 (GRCm39)	S197R	probably benign	Het
Col3a1	T	A	1: 45,360,771 (GRCm39)	I67N	unknown	Het
Dcaf12l1	T	C	X: 43,878,304 (GRCm39)	T165A	probably benign	Het
Dicer1	T	C	12: 104,695,502 (GRCm39)	Y143C	possibly damaging	Het
Dlg5	A	G	14: 24,185,711 (GRCm39)	I1898T	possibly damaging	Het
Dnah1	T	C	14: 30,985,908 (GRCm39)	N3762D	probably damaging	Het
Dscaml1	A	T	9: 45,653,521 (GRCm39)	T1382S	possibly damaging	Het
Entpd3	A	T	9: 120,395,555 (GRCm39)	R513W	probably damaging	Het
Foxred1	A	G	9: 35,120,738 (GRCm39)	S132P	probably damaging	Het
Ftsj3	T	C	11: 106,143,826 (GRCm39)	I273V	probably benign	Het
Hsd17b7	C	T	1: 169,787,251 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,887,186 (GRCm39)	V1253D	probably damaging	Het
Iqsec1	T	A	6: 90,667,790 (GRCm39)	K216*	probably null	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Kcnk2	G	A	1: 189,072,223 (GRCm39)	S35L	probably benign	Het
Kif13a	T	C	13: 46,966,212 (GRCm39)	Y402C	probably damaging	Het
Lamc1	A	G	1: 153,126,241 (GRCm39)	S484P	probably benign	Het
Lap3	T	C	5: 45,666,861 (GRCm39)		probably null	Het
Lhx8	G	T	3: 154,033,742 (GRCm39)	S46*	probably null	Het
Lin7a	T	C	10: 107,159,813 (GRCm39)	S42P	probably damaging	Het
Lrba	G	A	3: 86,261,585 (GRCm39)	R1513Q	probably damaging	Het
Maml2	C	A	9: 13,531,980 (GRCm39)	P398Q	possibly damaging	Het
Mast2	T	C	4: 116,166,210 (GRCm39)	I1201V	probably damaging	Het
Mmp20	A	T	9: 7,642,769 (GRCm39)	D201V	probably damaging	Het
Morn5	T	A	2: 35,947,092 (GRCm39)	C123*	probably null	Het
Mrpl4	A	G	9: 20,918,807 (GRCm39)	K175E	possibly damaging	Het
Nav3	A	T	10: 109,689,372 (GRCm39)	S302T	probably benign	Het
Ndrg2	T	C	14: 52,145,591 (GRCm39)	Y217C	probably damaging	Het
Nfx1	A	G	4: 40,976,803 (GRCm39)	D159G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,089 (GRCm39)	T109S	possibly damaging	Het
Npepps	A	G	11: 97,097,980 (GRCm39)	Y909H	probably benign	Het
Or10g1	A	G	14: 52,648,024 (GRCm39)	C102R	probably damaging	Het
Or11g7	A	G	14: 50,691,378 (GRCm39)	N290D	probably damaging	Het
Or51a25	A	T	7: 102,373,397 (GRCm39)	F100Y	probably damaging	Het
Or6c211	T	A	10: 129,506,238 (GRCm39)	D50V	probably damaging	Het
Or6c69b	A	C	10: 129,626,723 (GRCm39)	V245G	probably damaging	Het
Pcdh1	T	C	18: 38,322,929 (GRCm39)	H968R	probably damaging	Het
Pde1b	T	A	15: 103,433,470 (GRCm39)	I296N	probably damaging	Het
Phldb1	T	A	9: 44,627,930 (GRCm39)	T172S	probably benign	Het
Plxdc2	T	C	2: 16,665,592 (GRCm39)	V215A	possibly damaging	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pou6f2	G	T	13: 18,347,000 (GRCm39)	Q31K	probably damaging	Het
Psd	T	A	19: 46,313,250 (GRCm39)	Y40F	probably damaging	Het
Rnf126	T	C	10: 79,597,448 (GRCm39)	N155D	probably benign	Het
Rpl36-ps3	C	A	12: 12,962,032 (GRCm39)		noncoding transcript	Het
Rrp15	C	A	1: 186,468,465 (GRCm39)	V184F	possibly damaging	Het
Rslcan18	G	T	13: 67,250,164 (GRCm39)	L24M	possibly damaging	Het
Sall1	A	G	8: 89,759,111 (GRCm39)	I331T	probably benign	Het
Slamf7	A	T	1: 171,468,606 (GRCm39)	N95K	possibly damaging	Het
Slc1a6	T	C	10: 78,635,951 (GRCm39)	Y339H	probably damaging	Het
Slc39a8	A	G	3: 135,532,446 (GRCm39)	N72D	probably benign	Het
Slf1	A	G	13: 77,231,568 (GRCm39)	S604P	probably damaging	Het
Slfn4	C	T	11: 83,079,819 (GRCm39)	T110M	probably benign	Het
Tnpo1	T	C	13: 99,015,220 (GRCm39)	T116A	probably damaging	Het
Tor1b	T	C	2: 30,845,893 (GRCm39)	I190T	probably damaging	Het
Ttn	C	A	2: 76,800,138 (GRCm39)	E357*	probably null	Het
Tubg2	G	T	11: 101,047,699 (GRCm39)	E95*	probably null	Het
Ube2i	T	C	17: 25,487,538 (GRCm39)	D67G	possibly damaging	Het
Ubxn11	A	G	4: 133,852,203 (GRCm39)	E50G	probably damaging	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Zcchc7	A	G	4: 44,929,124 (GRCm39)	T38A	possibly damaging	Het
Zfp236	A	G	18: 82,664,130 (GRCm39)	S552P	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
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

Predicted Primers

PCR Primer
(F):5'- GCTATCCACACTGGCTTGTGCTTG -3'
(R):5'- GCTGCCTCAATCAAACATGGTGAAC -3'

Sequencing Primer
(F):5'- tgaaacaggctctcactctac -3'
(R):5'- TGGTGAACATCTCCAACTCC -3'

Posted On

2014-03-14