Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Ubap2l'

268325

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

040668-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90000140-90052628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90015451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 766 (T766N)

Ref Sequence

ENSEMBL: ENSMUSP00000143254 (fasta)

Gene Model

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

AlphaFold

Q80X50

Predicted Effect

unknown
Transcript: ENSMUST00000029553
AA Change: T755N

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: T755N

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: T760N

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: T760N

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

unknown
Transcript: ENSMUST00000090908
AA Change: T735N

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: T735N

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: T766N

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: T766N

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: T755N

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: T755N

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: T256N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197633

Predicted Effect

unknown
Transcript: ENSMUST00000198322
AA Change: T735N

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: T735N

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

unknown
Transcript: ENSMUST00000199834
AA Change: T766N

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: T766N

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: ENSMUST00000200320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200195

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Ect2l	A	G	10: 18,163,393	I339T	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,633,103	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Lrfn1	T	C	7: 28,460,054	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	probably benign	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
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
R5274:Ubap2l	UTSW	3	90012730	missense	probably damaging	1.00
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'- CTCCTAGGCAAAGCTACCTG -3'
(R):5'- GAATTTGTCCCCAGCCACTTTG -3'

Sequencing Primer
(F):5'- TCCTAGGCAAAGCTACCTGAAGTTG -3'
(R):5'- CCAATGGGCAATTGCGAG -3'

Posted On

2015-02-19