Mutagenetix > Incidental Mutation

Incidental Mutation 'R5274:Ubap2l'

403803

Institutional Source

Beutler Lab

Gene Symbol

Ubap2l

Ensembl Gene

ENSMUSG00000042520

Gene Name

ubiquitin-associated protein 2-like

Synonyms

A430103N23Rik, NICE-4, 3110083O19Rik, 4932431F02Rik

MMRRC Submission

042837-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90000140-90052628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90012730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 818 (Y818H)

Ref Sequence

ENSEMBL: ENSMUSP00000088424 (fasta)

Gene Model

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

AlphaFold

Q80X50

Predicted Effect

unknown
Transcript: ENSMUST00000029553
AA Change: Y838H

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: Y838H

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: Y843H

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: Y843H

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 damaging
Transcript: ENSMUST00000090908
AA Change: Y818H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: Y818H

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

noncoding transcript
Transcript: ENSMUST00000104381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183442

Predicted Effect

unknown
Transcript: ENSMUST00000195995
AA Change: Y849H

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: Y849H

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

noncoding transcript
Transcript: ENSMUST00000196568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196747

Predicted Effect

unknown
Transcript: ENSMUST00000196843
AA Change: Y838H

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: Y838H

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: ENSMUST00000197177
AA Change: Y339H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197633

Predicted Effect

unknown
Transcript: ENSMUST00000199834
AA Change: Y849H

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: Y849H

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: ENSMUST00000198322
AA Change: Y818H

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: Y818H

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

noncoding transcript
Transcript: ENSMUST00000199612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200320

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 98.0%
20x: 96.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,235,659	R155H	probably benign	Het
Ace	T	C	11: 105,968,037	M19T	probably benign	Het
Agl	A	G	3: 116,772,486	L995P	probably damaging	Het
AY761185	T	C	8: 20,943,873	N90S	unknown	Het
Brca2	T	C	5: 150,539,689	S973P	probably benign	Het
Cacna1e	T	C	1: 154,700,504	T66A	probably damaging	Het
Cbarp	T	C	10: 80,131,815	S531G	possibly damaging	Het
Cd96	G	T	16: 46,069,703	T319K	possibly damaging	Het
Chil5	A	C	3: 106,028,853	F41C	probably damaging	Het
Col24a1	A	C	3: 145,484,678	E1239D	probably benign	Het
Dip2b	A	G	15: 100,212,104	E1490G	possibly damaging	Het
Dync1li1	T	C	9: 114,715,205	V315A	possibly damaging	Het
Dync2h1	T	C	9: 7,116,540	S99G	probably benign	Het
E2f8	C	T	7: 48,867,177	R818H	probably damaging	Het
Eomes	T	C	9: 118,480,529	V250A	probably damaging	Het
Esyt3	T	C	9: 99,318,297	T615A	probably benign	Het
Fbxo38	A	T	18: 62,515,069	D799E	probably damaging	Het
Fdft1	A	G	14: 63,152,343	F288S	probably damaging	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm4871	C	G	5: 145,030,370	E185Q	probably damaging	Het
Gm5155	T	C	7: 17,915,717		probably null	Het
Gm5901	C	A	7: 105,377,448	P141Q	probably damaging	Het
Herc1	T	A	9: 66,399,409	I933N	probably benign	Het
Ifih1	T	C	2: 62,611,718	Q385R	probably benign	Het
Ighmbp2	T	C	19: 3,265,518	E634G	probably damaging	Het
Klk6	C	G	7: 43,829,129		probably null	Het
Kmt2d	A	G	15: 98,854,230		probably benign	Het
Lig3	T	A	11: 82,797,292		probably null	Het
Lrp1b	T	C	2: 41,344,444	D310G	probably null	Het
Mroh6	A	G	15: 75,885,000	V571A	possibly damaging	Het
Olfm5	A	G	7: 104,159,983	S132P	probably damaging	Het
Olfr488	A	T	7: 108,255,635	F168I	probably benign	Het
Olfr659	T	C	7: 104,671,526	S275P	probably damaging	Het
Patj	G	C	4: 98,518,981	S4T	probably damaging	Het
Pcdhga12	T	A	18: 37,766,422	C102*	probably null	Het
Pik3ap1	T	C	19: 41,281,952	D766G	possibly damaging	Het
Plch2	A	T	4: 154,998,954	L408Q	probably damaging	Het
Pnma2	G	T	14: 66,916,760	R211L	probably damaging	Het
Prkg2	T	A	5: 98,969,991	H468L	probably damaging	Het
Rad1	T	A	15: 10,487,973		probably null	Het
Rims3	A	G	4: 120,891,374	D264G	probably damaging	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rrm2	T	A	12: 24,710,407	Y75*	probably null	Het
Sall3	T	C	18: 80,969,837	N1128S	probably benign	Het
Slc26a5	T	C	5: 21,813,901	T610A	possibly damaging	Het
Snx29	G	T	16: 11,738,404	E766D	probably damaging	Het
Sox17	A	G	1: 4,491,888	V298A	possibly damaging	Het
Spert	A	G	14: 75,583,226	V362A	probably benign	Het
Ss18	G	A	18: 14,641,049	Q228*	probably null	Het
Tas2r121	A	G	6: 132,700,848	S54P	probably damaging	Het
Tctex1d1	A	T	4: 103,002,571	T103S	possibly damaging	Het
Tmem206	T	C	1: 191,348,468	V295A	probably damaging	Het
Ttc21b	T	C	2: 66,236,283	E342G	possibly damaging	Het
Usp15	C	A	10: 123,168,351	R166I	probably damaging	Het
Vmn1r34	T	G	6: 66,637,139	H205P	probably damaging	Het
Vmn2r22	A	T	6: 123,650,634	M1K	probably null	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zdhhc1	T	C	8: 105,483,770	N5S	probably benign	Het
Zfp758	T	A	17: 22,375,855	C441S	probably benign	Het
Zp2	T	C	7: 120,138,092	E291G	possibly damaging	Het

Other mutations in Ubap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Ubap2l	APN	3	90009256	nonsense	probably null
IGL02606:Ubap2l	APN	3	90038428	missense	probably damaging	0.98
IGL02809:Ubap2l	APN	3	90021246	missense	probably damaging	1.00
Panhandle	UTSW	3	90031376	splice site	probably benign
plainview	UTSW	3	90038850	missense	probably damaging	1.00
R0052:Ubap2l	UTSW	3	90038928	missense	possibly damaging	0.93
R0052:Ubap2l	UTSW	3	90038928	missense	possibly damaging	0.93
R0128:Ubap2l	UTSW	3	90021373	missense	possibly damaging	0.89
R0130:Ubap2l	UTSW	3	90021373	missense	possibly damaging	0.89
R0502:Ubap2l	UTSW	3	90009213	missense	probably damaging	1.00
R0619:Ubap2l	UTSW	3	90017220	missense	probably benign	0.01
R0726:Ubap2l	UTSW	3	90021246	missense	probably damaging	1.00
R1023:Ubap2l	UTSW	3	90047873	utr 5 prime	probably benign
R1172:Ubap2l	UTSW	3	90023500	missense	probably benign	0.24
R1174:Ubap2l	UTSW	3	90023500	missense	probably benign	0.24
R1175:Ubap2l	UTSW	3	90023500	missense	probably benign	0.24
R1191:Ubap2l	UTSW	3	90023575	missense	probably damaging	1.00
R1432:Ubap2l	UTSW	3	90019328	missense	probably benign	0.11
R1582:Ubap2l	UTSW	3	90034671	missense	probably damaging	1.00
R1771:Ubap2l	UTSW	3	90019231	missense	probably damaging	1.00
R2058:Ubap2l	UTSW	3	90031376	splice site	probably benign
R2059:Ubap2l	UTSW	3	90031376	splice site	probably benign
R2081:Ubap2l	UTSW	3	90038964	missense	possibly damaging	0.92
R2408:Ubap2l	UTSW	3	90009132	missense	probably null	0.99
R3404:Ubap2l	UTSW	3	90038850	missense	probably damaging	1.00
R3551:Ubap2l	UTSW	3	90015451	missense	unknown
R4132:Ubap2l	UTSW	3	90009184	missense	probably damaging	1.00
R4782:Ubap2l	UTSW	3	90020903	missense	probably damaging	0.98
R4798:Ubap2l	UTSW	3	90020903	missense	probably damaging	0.98
R5173:Ubap2l	UTSW	3	90021030	missense	possibly damaging	0.86
R5387:Ubap2l	UTSW	3	90006596	missense	probably benign	0.10
R6548:Ubap2l	UTSW	3	90023560	missense	probably damaging	1.00
R6912:Ubap2l	UTSW	3	90038848	missense	possibly damaging	0.84
R6995:Ubap2l	UTSW	3	90009241	missense	probably damaging	0.98
R7039:Ubap2l	UTSW	3	90002355	missense	probably damaging	1.00
R7323:Ubap2l	UTSW	3	90015406	missense	unknown
R7512:Ubap2l	UTSW	3	90010496	missense	unknown
R7815:Ubap2l	UTSW	3	90043764	nonsense	probably null
R7975:Ubap2l	UTSW	3	90038769	splice site	probably null
R8200:Ubap2l	UTSW	3	90023626	missense	probably benign	0.34
R8291:Ubap2l	UTSW	3	90008231	makesense	probably null
R8424:Ubap2l	UTSW	3	90021031	missense	probably damaging	1.00
R8441:Ubap2l	UTSW	3	90012700	missense	unknown
R9098:Ubap2l	UTSW	3	90002449	missense	unknown
R9373:Ubap2l	UTSW	3	90008280	missense	unknown
R9421:Ubap2l	UTSW	3	90047801	missense	possibly damaging	0.95
R9488:Ubap2l	UTSW	3	90021349	missense	probably benign	0.02
Z1176:Ubap2l	UTSW	3	90001817	critical splice donor site	probably null
Z1176:Ubap2l	UTSW	3	90019204	missense	probably damaging	1.00
Z1186:Ubap2l	UTSW	3	90009236	missense	unknown
Z1191:Ubap2l	UTSW	3	90009236	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAACATCTGAGAATCCTTCCATCAG -3'
(R):5'- CAGGAAAGCTTTAAGACCTTTCATG -3'

Sequencing Primer
(F):5'- TGGGCATGCCATTAATCCCAG -3'
(R):5'- GCTTTGTTCTGACAATGAGG -3'

Posted On

2016-07-22