Mutagenetix > Incidental Mutation

Incidental Mutation 'R6820:Ubap1'

537557

Institutional Source

Beutler Lab

Gene Symbol

Ubap1

Ensembl Gene

ENSMUSG00000028437

Gene Name

ubiquitin-associated protein 1

Synonyms

NAG20, 2700092A01Rik

MMRRC Submission

044932-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41348996-41389766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41379854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 356 (P356L)

Ref Sequence

ENSEMBL: ENSMUSP00000103695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072866] [ENSMUST00000108060]

AlphaFold

Q8BH48

Predicted Effect

probably benign
Transcript: ENSMUST00000072866
AA Change: P356L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: P356L

Domain	Start	End	E-Value	Type
coiled coil region	64	95	N/A	INTRINSIC
low complexity region	333	348	N/A	INTRINSIC
SCOP:d1ifya_	387	430	5e-10	SMART
PDB:4AE4\|B	388	502	1e-74	PDB
Blast:UBA	392	428	7e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108060
AA Change: P356L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437
AA Change: P356L

Domain	Start	End	E-Value	Type
coiled coil region	64	95	N/A	INTRINSIC
low complexity region	333	348	N/A	INTRINSIC
PDB:4AE4\|B	362	441	2e-50	PDB
SCOP:d1exja1	394	437	1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132235

SMART Domains

Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437

Domain	Start	End	E-Value	Type
SCOP:d1ifya_	68	111	2e-11	SMART
PDB:4AE4\|B	69	140	2e-44	PDB
Blast:UBA	73	109	7e-15	BLAST

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,673,266 (GRCm39)	N141Y	probably null	Het
Chkb	A	G	15: 89,312,379 (GRCm39)	L46P	probably damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Dna2	T	C	10: 62,800,683 (GRCm39)	I739T	possibly damaging	Het
Dnah17	T	C	11: 117,959,826 (GRCm39)	H2620R	probably damaging	Het
Dsel	A	G	1: 111,787,547 (GRCm39)	V996A	probably damaging	Het
Dst	T	C	1: 34,250,337 (GRCm39)	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,286,387 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,034,468 (GRCm39)	V1048E	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,311,079 (GRCm39)	T377S	probably benign	Het
Fbxw28	A	T	9: 109,167,493 (GRCm39)	F88Y	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Gtsf1	T	C	15: 103,328,954 (GRCm39)	T92A	probably benign	Het
Hoxc13	A	G	15: 102,830,257 (GRCm39)	Y212C	probably damaging	Het
Itih2	T	C	2: 10,102,909 (GRCm39)	I742V	probably benign	Het
Kat7	T	C	11: 95,174,965 (GRCm39)	T351A	probably damaging	Het
Mlh3	T	C	12: 85,294,497 (GRCm39)	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,982,756 (GRCm39)	D1525G	probably damaging	Het
Nme5	T	C	18: 34,704,626 (GRCm39)	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,969,086 (GRCm39)	V957A	probably damaging	Het
Nup153	A	G	13: 46,863,459 (GRCm39)	S301P	probably benign	Het
Obscn	T	C	11: 58,942,019 (GRCm39)	D5013G	probably damaging	Het
Or4f54	C	T	2: 111,123,455 (GRCm39)	P281S	probably damaging	Het
Or5p51	A	G	7: 107,444,298 (GRCm39)	V214A	probably benign	Het
Or8g51	A	G	9: 38,608,771 (GRCm39)	V297A	possibly damaging	Het
Pak1	A	G	7: 97,535,586 (GRCm39)	N226D	probably benign	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pkp3	T	C	7: 140,659,757 (GRCm39)		probably null	Het
Prxl2b	A	T	4: 154,982,623 (GRCm39)	D50E	probably damaging	Het
Psd	G	T	19: 46,309,283 (GRCm39)	A558E	probably damaging	Het
Psmd14	C	A	2: 61,607,068 (GRCm39)	H172N	probably benign	Het
Pygb	G	T	2: 150,658,674 (GRCm39)	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,021,146 (GRCm39)	M1K	probably null	Het
Rnf213	T	C	11: 119,339,664 (GRCm39)	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,932,790 (GRCm39)	V88A	probably damaging	Het
Tha1	T	C	11: 117,762,504 (GRCm39)	E80G	probably benign	Het
Tie1	A	G	4: 118,341,583 (GRCm39)	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926 (GRCm39)	M1T	probably null	Het
Tpm2	A	G	4: 43,518,443 (GRCm39)	Y221H	probably damaging	Het
Wbp2nl	G	T	15: 82,197,996 (GRCm39)	A178S	possibly damaging	Het
Wdr54	A	T	6: 83,131,601 (GRCm39)	S139T	probably benign	Het
Wipi2	G	C	5: 142,615,555 (GRCm39)	Q14H	probably benign	Het
Zan	T	C	5: 137,406,106 (GRCm39)		probably benign	Het
Zfp735	A	G	11: 73,579,783 (GRCm39)	M1V	probably null	Het

Other mutations in Ubap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Ubap1	APN	4	41,379,562 (GRCm39)	missense	probably benign
IGL01413:Ubap1	APN	4	41,387,333 (GRCm39)	missense	probably benign	0.04
IGL01418:Ubap1	APN	4	41,387,333 (GRCm39)	missense	probably benign	0.04
IGL01867:Ubap1	APN	4	41,379,236 (GRCm39)	missense	probably benign	0.00
IGL02535:Ubap1	APN	4	41,379,667 (GRCm39)	nonsense	probably null
R0090:Ubap1	UTSW	4	41,379,826 (GRCm39)	missense	probably damaging	0.98
R0980:Ubap1	UTSW	4	41,379,832 (GRCm39)	missense	probably damaging	1.00
R1941:Ubap1	UTSW	4	41,378,968 (GRCm39)	missense	probably damaging	0.96
R2049:Ubap1	UTSW	4	41,379,257 (GRCm39)	missense	probably damaging	1.00
R2142:Ubap1	UTSW	4	41,379,257 (GRCm39)	missense	probably damaging	1.00
R2310:Ubap1	UTSW	4	41,379,341 (GRCm39)	missense	possibly damaging	0.86
R3508:Ubap1	UTSW	4	41,379,163 (GRCm39)	missense	probably damaging	1.00
R4118:Ubap1	UTSW	4	41,371,767 (GRCm39)	missense	probably damaging	1.00
R4375:Ubap1	UTSW	4	41,371,850 (GRCm39)	critical splice donor site	probably null
R5053:Ubap1	UTSW	4	41,387,315 (GRCm39)	nonsense	probably null
R5121:Ubap1	UTSW	4	41,379,688 (GRCm39)	missense	probably benign
R6137:Ubap1	UTSW	4	41,379,262 (GRCm39)	missense	possibly damaging	0.60
R7393:Ubap1	UTSW	4	41,379,764 (GRCm39)	nonsense	probably null
R8923:Ubap1	UTSW	4	41,379,170 (GRCm39)	missense	probably benign
R9096:Ubap1	UTSW	4	41,379,872 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGAAGACAGTCAAGCTTGCG -3'
(R):5'- ATACACAAGCTGCCCTCAGG -3'

Sequencing Primer
(F):5'- TGCGAGCACTTTCCATAGCAC -3'
(R):5'- CTCAGGAAAAGAAGCAGAATTCTATC -3'

Posted On

2018-10-18