Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Ubap1'

278451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubap1

Ensembl Gene

ENSMUSG00000028437

Gene Name

ubiquitin-associated protein 1

Synonyms

NAG20, 2700092A01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

41348996-41389766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41387333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 414 (R414S)

Ref Sequence

ENSEMBL: ENSMUSP00000072643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030148] [ENSMUST00000072866] [ENSMUST00000108055] [ENSMUST00000108060]

AlphaFold

Q8BH48

Predicted Effect

probably benign
Transcript: ENSMUST00000030148

SMART Domains

Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438

Domain	Start	End	E-Value	Type
KISc	216	413	2.51e-29	SMART
low complexity region	481	499	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC
low complexity region	626	644	N/A	INTRINSIC
low complexity region	678	695	N/A	INTRINSIC
low complexity region	1119	1130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072866
AA Change: R414S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437
AA Change: R414S

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: ENSMUST00000108055

SMART Domains

Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438

Domain	Start	End	E-Value	Type
Blast:KISc	82	205	1e-47	BLAST
KISc	216	547	3.09e-134	SMART
low complexity region	615	633	N/A	INTRINSIC
low complexity region	697	708	N/A	INTRINSIC
low complexity region	760	778	N/A	INTRINSIC
low complexity region	812	829	N/A	INTRINSIC
low complexity region	1253	1264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108060

SMART Domains

Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437

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

unknown
Transcript: ENSMUST00000132235
AA Change: R94S

SMART Domains

Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437
AA Change: R94S

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

Coding Region Coverage

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ass1	A	G	2: 31,366,934 (GRCm39)	Y11C	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hadha	T	A	5: 30,346,025 (GRCm39)	M200L	probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Samd4	A	G	14: 47,254,249 (GRCm39)	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	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
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
R6820:Ubap1	UTSW	4	41,379,854 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16