Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:Ubap2l'

544109

Institutional Source

Beutler Lab

Gene Symbol

Ubap2l

Ensembl Gene

ENSMUSG00000042520

Gene Name

ubiquitin-associated protein 2-like

Synonyms

4932431F02Rik, A430103N23Rik, NICE-4, 3110083O19Rik

MMRRC Submission

045101-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89907447-89959935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89916548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 909 (T909A)

Ref Sequence

ENSEMBL: ENSMUSP00000029553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000090908] [ENSMUST00000195995] [ENSMUST00000196843] [ENSMUST00000198322] [ENSMUST00000199834]

AlphaFold

Q80X50

PDB Structure

Solution structure of RSGI RUH-015, a UBA domain from mouse cDNA [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029553
AA Change: T909A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: T909A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	389	398	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC
Pfam:DUF3697	514	546	4e-22	PFAM
low complexity region	554	589	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	714	745	N/A	INTRINSIC
low complexity region	748	804	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	893	916	N/A	INTRINSIC
low complexity region	1038	1051	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000064639
AA Change: T914A

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: T914A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	394	403	N/A	INTRINSIC
low complexity region	405	414	N/A	INTRINSIC
low complexity region	464	489	N/A	INTRINSIC
Pfam:DUF3697	520	551	4.1e-18	PFAM
low complexity region	559	594	N/A	INTRINSIC
low complexity region	670	680	N/A	INTRINSIC
low complexity region	719	750	N/A	INTRINSIC
low complexity region	753	809	N/A	INTRINSIC
low complexity region	813	827	N/A	INTRINSIC
low complexity region	898	921	N/A	INTRINSIC
low complexity region	1043	1056	N/A	INTRINSIC
low complexity region	1077	1092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090908
AA Change: T889A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: T889A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	148	N/A	INTRINSIC
low complexity region	173	201	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	411	420	N/A	INTRINSIC
low complexity region	470	495	N/A	INTRINSIC
Pfam:DUF3697	525	557	3.6e-22	PFAM
low complexity region	565	600	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	725	756	N/A	INTRINSIC
low complexity region	759	815	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000195995
AA Change: T920A

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: T920A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	148	N/A	INTRINSIC
low complexity region	173	201	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	411	420	N/A	INTRINSIC
low complexity region	470	495	N/A	INTRINSIC
Pfam:DUF3697	526	557	3.7e-18	PFAM
low complexity region	565	600	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	725	756	N/A	INTRINSIC
low complexity region	759	815	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000196843
AA Change: T909A

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: T909A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	389	398	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC
Pfam:DUF3697	514	546	4e-22	PFAM
low complexity region	554	589	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
low complexity region	714	745	N/A	INTRINSIC
low complexity region	748	804	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	893	916	N/A	INTRINSIC
low complexity region	1038	1051	N/A	INTRINSIC
low complexity region	1072	1087	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000198322
AA Change: T889A

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: T889A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	152	N/A	INTRINSIC
low complexity region	162	190	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	369	378	N/A	INTRINSIC
low complexity region	380	389	N/A	INTRINSIC
low complexity region	439	464	N/A	INTRINSIC
Pfam:DUF3697	494	526	4.1e-22	PFAM
low complexity region	534	569	N/A	INTRINSIC
low complexity region	645	655	N/A	INTRINSIC
low complexity region	694	725	N/A	INTRINSIC
low complexity region	728	784	N/A	INTRINSIC
low complexity region	788	802	N/A	INTRINSIC
low complexity region	873	896	N/A	INTRINSIC
low complexity region	1017	1030	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000199834
AA Change: T920A

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: T920A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	1.31e-9	SMART
low complexity region	124	148	N/A	INTRINSIC
low complexity region	173	201	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	400	409	N/A	INTRINSIC
low complexity region	411	420	N/A	INTRINSIC
low complexity region	470	495	N/A	INTRINSIC
Pfam:DUF3697	525	557	3.6e-22	PFAM
low complexity region	565	600	N/A	INTRINSIC
low complexity region	676	686	N/A	INTRINSIC
low complexity region	725	756	N/A	INTRINSIC
low complexity region	759	815	N/A	INTRINSIC
low complexity region	819	833	N/A	INTRINSIC
low complexity region	904	927	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased female body size and reduced female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,644,149 (GRCm39)	Y606C	probably benign	Het
Acad9	A	G	3: 36,139,630 (GRCm39)	Y410C	probably damaging	Het
Acot6	C	T	12: 84,156,149 (GRCm39)	P366S	probably damaging	Het
Adrm1b	T	C	3: 92,336,315 (GRCm39)		probably benign	Het
Anks1	G	T	17: 28,273,273 (GRCm39)	G964V	probably damaging	Het
Apol7a	A	T	15: 77,274,176 (GRCm39)		probably benign	Het
Arid3c	G	A	4: 41,725,087 (GRCm39)	A320V	probably damaging	Het
Bnip3l	A	T	14: 67,237,101 (GRCm39)	N50K	probably benign	Het
C1qtnf4	C	A	2: 90,720,297 (GRCm39)	A190D	probably benign	Het
Calhm5	A	T	10: 33,972,189 (GRCm39)	M82K	probably benign	Het
Cdcp3	G	T	7: 130,824,400 (GRCm39)	W165L	probably damaging	Het
Cdh1	G	T	8: 107,387,545 (GRCm39)	V482L	probably benign	Het
Cdrt4	A	C	11: 62,883,486 (GRCm39)	I63L	probably benign	Het
Cic	A	T	7: 24,970,736 (GRCm39)	T156S	possibly damaging	Het
Ckm	A	G	7: 19,154,156 (GRCm39)	N301S	probably benign	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Cop1	A	G	1: 159,134,154 (GRCm39)	D132G	probably damaging	Het
Cpd	G	T	11: 76,675,881 (GRCm39)	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,604,123 (GRCm39)	H411R	probably damaging	Het
Cyp2r1	A	T	7: 114,152,316 (GRCm39)	F5I	probably damaging	Het
Dclk3	T	A	9: 111,296,768 (GRCm39)	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,494,973 (GRCm39)	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,147,671 (GRCm39)	E365*	probably null	Het
Dst	A	T	1: 34,205,315 (GRCm39)	I502F	probably damaging	Het
Espl1	T	C	15: 102,212,535 (GRCm39)	V547A	possibly damaging	Het
Foxa1	C	T	12: 57,589,264 (GRCm39)	A319T	probably benign	Het
Frem1	G	T	4: 82,904,838 (GRCm39)	H859N	probably damaging	Het
Frem3	T	A	8: 81,339,208 (GRCm39)	D500E	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grip1	A	G	10: 119,822,375 (GRCm39)	D394G	probably damaging	Het
Gsap	C	A	5: 21,476,235 (GRCm39)	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,522,658 (GRCm39)	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,920,131 (GRCm39)	T115S	probably benign	Het
Kirrel2	A	C	7: 30,154,604 (GRCm39)	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,803,368 (GRCm39)	T397M	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lrig1	T	C	6: 94,588,610 (GRCm39)	D513G	possibly damaging	Het
Lrrk1	T	C	7: 65,942,090 (GRCm39)	D716G	probably damaging	Het
Matn4	G	A	2: 164,231,584 (GRCm39)	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374 (GRCm39)	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,489 (GRCm39)	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,165,578 (GRCm39)	D744G	possibly damaging	Het
Nampt	T	G	12: 32,898,742 (GRCm39)	Y453D	probably benign	Het
Nlrp12	A	G	7: 3,288,481 (GRCm39)	V677A	probably benign	Het
Ntng2	T	C	2: 29,087,080 (GRCm39)	N414S	probably damaging	Het
Or1e16	A	G	11: 73,286,410 (GRCm39)	V146A	probably benign	Het
Or4g17	A	G	2: 111,209,708 (GRCm39)	D121G	probably damaging	Het
Or5p52	A	G	7: 107,502,829 (GRCm39)	R302G	probably benign	Het
Or9m1b	A	C	2: 87,836,529 (GRCm39)	F189V	probably benign	Het
Parp4	A	C	14: 56,851,196 (GRCm39)	Q733P	probably damaging	Het
Pdcl3	G	A	1: 39,034,417 (GRCm39)	V56I	probably benign	Het
Pepd	A	G	7: 34,721,144 (GRCm39)	Y256C	probably damaging	Het
Plg	G	T	17: 12,637,938 (GRCm39)	R788L	probably benign	Het
Plod1	A	T	4: 148,000,675 (GRCm39)		probably benign	Het
Ptprc	A	G	1: 138,016,482 (GRCm39)	V513A	probably damaging	Het
Pxdn	T	C	12: 30,045,370 (GRCm39)	I373T	possibly damaging	Het
Qrfprl	A	T	6: 65,418,285 (GRCm39)	K151I	probably damaging	Het
Rbbp8	G	A	18: 11,851,965 (GRCm39)	G262E	probably damaging	Het
Rfc2	T	A	5: 134,623,104 (GRCm39)	Y240*	probably null	Het
Rps15	A	G	10: 80,129,598 (GRCm39)	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr1	A	C	7: 28,793,607 (GRCm39)	M1287R	probably damaging	Het
Scart2	G	A	7: 139,841,514 (GRCm39)	D273N	probably benign	Het
Serpina9	A	G	12: 103,967,495 (GRCm39)	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,234,606 (GRCm39)	A130T	probably damaging	Het
Slc12a8	G	A	16: 33,355,263 (GRCm39)	W26*	probably null	Het
Snx18	A	T	13: 113,731,265 (GRCm39)	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,543,321 (GRCm39)	T107I	probably benign	Het
Thap1	C	A	8: 26,652,679 (GRCm39)	T139K	probably damaging	Het
Tle4	T	A	19: 14,541,817 (GRCm39)		probably null	Het
Tmem87a	A	T	2: 120,193,409 (GRCm39)	M502K	possibly damaging	Het
Tpcn2	A	T	7: 144,810,522 (GRCm39)	V605E	probably benign	Het
Trgj1	C	A	13: 19,394,529 (GRCm39)		probably benign	Het
Tsc2	A	T	17: 24,847,028 (GRCm39)	V179E	probably damaging	Het
Ubl4b	T	G	3: 107,462,140 (GRCm39)	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 21,035,277 (GRCm39)	D174G	probably damaging	Het
Vmn2r50	A	T	7: 9,779,964 (GRCm39)	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vmn2r74	T	A	7: 85,606,860 (GRCm39)		probably null	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Zfp335	G	A	2: 164,735,210 (GRCm39)	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,310,772 (GRCm39)	K327Q	probably benign	Het
Zwilch	G	A	9: 64,072,731 (GRCm39)	Q27*	probably null	Het

Other mutations in Ubap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Ubap2l	APN	3	89,916,563 (GRCm39)	nonsense	probably null
IGL02606:Ubap2l	APN	3	89,945,735 (GRCm39)	missense	probably damaging	0.98
IGL02809:Ubap2l	APN	3	89,928,553 (GRCm39)	missense	probably damaging	1.00
Panhandle	UTSW	3	89,938,683 (GRCm39)	splice site	probably benign
plainview	UTSW	3	89,946,157 (GRCm39)	missense	probably damaging	1.00
R0052:Ubap2l	UTSW	3	89,946,235 (GRCm39)	missense	possibly damaging	0.93
R0052:Ubap2l	UTSW	3	89,946,235 (GRCm39)	missense	possibly damaging	0.93
R0128:Ubap2l	UTSW	3	89,928,680 (GRCm39)	missense	possibly damaging	0.89
R0130:Ubap2l	UTSW	3	89,928,680 (GRCm39)	missense	possibly damaging	0.89
R0502:Ubap2l	UTSW	3	89,916,520 (GRCm39)	missense	probably damaging	1.00
R0619:Ubap2l	UTSW	3	89,924,527 (GRCm39)	missense	probably benign	0.01
R0726:Ubap2l	UTSW	3	89,928,553 (GRCm39)	missense	probably damaging	1.00
R1023:Ubap2l	UTSW	3	89,955,180 (GRCm39)	utr 5 prime	probably benign
R1172:Ubap2l	UTSW	3	89,930,807 (GRCm39)	missense	probably benign	0.24
R1174:Ubap2l	UTSW	3	89,930,807 (GRCm39)	missense	probably benign	0.24
R1175:Ubap2l	UTSW	3	89,930,807 (GRCm39)	missense	probably benign	0.24
R1191:Ubap2l	UTSW	3	89,930,882 (GRCm39)	missense	probably damaging	1.00
R1432:Ubap2l	UTSW	3	89,926,635 (GRCm39)	missense	probably benign	0.11
R1582:Ubap2l	UTSW	3	89,941,978 (GRCm39)	missense	probably damaging	1.00
R1771:Ubap2l	UTSW	3	89,926,538 (GRCm39)	missense	probably damaging	1.00
R2058:Ubap2l	UTSW	3	89,938,683 (GRCm39)	splice site	probably benign
R2059:Ubap2l	UTSW	3	89,938,683 (GRCm39)	splice site	probably benign
R2081:Ubap2l	UTSW	3	89,946,271 (GRCm39)	missense	possibly damaging	0.92
R2408:Ubap2l	UTSW	3	89,916,439 (GRCm39)	missense	probably null	0.99
R3404:Ubap2l	UTSW	3	89,946,157 (GRCm39)	missense	probably damaging	1.00
R3551:Ubap2l	UTSW	3	89,922,758 (GRCm39)	missense	unknown
R4132:Ubap2l	UTSW	3	89,916,491 (GRCm39)	missense	probably damaging	1.00
R4782:Ubap2l	UTSW	3	89,928,210 (GRCm39)	missense	probably damaging	0.98
R4798:Ubap2l	UTSW	3	89,928,210 (GRCm39)	missense	probably damaging	0.98
R5173:Ubap2l	UTSW	3	89,928,337 (GRCm39)	missense	possibly damaging	0.86
R5274:Ubap2l	UTSW	3	89,920,037 (GRCm39)	missense	probably damaging	1.00
R5387:Ubap2l	UTSW	3	89,913,903 (GRCm39)	missense	probably benign	0.10
R6548:Ubap2l	UTSW	3	89,930,867 (GRCm39)	missense	probably damaging	1.00
R6912:Ubap2l	UTSW	3	89,946,155 (GRCm39)	missense	possibly damaging	0.84
R7039:Ubap2l	UTSW	3	89,909,662 (GRCm39)	missense	probably damaging	1.00
R7323:Ubap2l	UTSW	3	89,922,713 (GRCm39)	missense	unknown
R7512:Ubap2l	UTSW	3	89,917,803 (GRCm39)	missense	unknown
R7815:Ubap2l	UTSW	3	89,951,071 (GRCm39)	nonsense	probably null
R7975:Ubap2l	UTSW	3	89,946,076 (GRCm39)	splice site	probably null
R8200:Ubap2l	UTSW	3	89,930,933 (GRCm39)	missense	probably benign	0.34
R8291:Ubap2l	UTSW	3	89,915,538 (GRCm39)	makesense	probably null
R8424:Ubap2l	UTSW	3	89,928,338 (GRCm39)	missense	probably damaging	1.00
R8441:Ubap2l	UTSW	3	89,920,007 (GRCm39)	missense	unknown
R9098:Ubap2l	UTSW	3	89,909,756 (GRCm39)	missense	unknown
R9373:Ubap2l	UTSW	3	89,915,587 (GRCm39)	missense	unknown
R9421:Ubap2l	UTSW	3	89,955,108 (GRCm39)	missense	possibly damaging	0.95
R9488:Ubap2l	UTSW	3	89,928,656 (GRCm39)	missense	probably benign	0.02
Z1176:Ubap2l	UTSW	3	89,926,511 (GRCm39)	missense	probably damaging	1.00
Z1176:Ubap2l	UTSW	3	89,909,124 (GRCm39)	critical splice donor site	probably null
Z1186:Ubap2l	UTSW	3	89,916,543 (GRCm39)	missense	unknown
Z1191:Ubap2l	UTSW	3	89,916,543 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTAGGATGGTGCTCAGGAC -3'
(R):5'- CTTTGGAGAAACAAGGGTGC -3'

Sequencing Primer
(F):5'- ATGGTGCTCAGGACTGGATC -3'
(R):5'- CTTTGGAGAAACAAGGGTGCATTGG -3'

Posted On

2019-05-13