Mutagenetix > Incidental Mutation

Incidental Mutation 'R8424:Ubap2l'

653341

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8424 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90000140-90052628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90021031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 535 (D535E)

Ref Sequence

ENSEMBL: ENSMUSP00000066138 (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: D530E

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: D530E

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

probably damaging
Transcript: ENSMUST00000064639
AA Change: D535E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: D535E

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: D510E

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: D510E

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

probably damaging
Transcript: ENSMUST00000195995
AA Change: D541E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: D541E

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

probably damaging
Transcript: ENSMUST00000196843
AA Change: D530E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: D530E

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

probably damaging
Transcript: ENSMUST00000198322
AA Change: D510E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: D510E

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

probably damaging
Transcript: ENSMUST00000199834
AA Change: D541E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: D541E

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 79,297,137	P42S	probably damaging	Het
Acss2	A	G	2: 155,574,618	T694A	unknown	Het
Adar	C	T	3: 89,735,994	P394L	probably damaging	Het
Alx4	A	G	2: 93,677,469	M370V	probably benign	Het
Bag6	T	A	17: 35,146,854	L1089Q	probably damaging	Het
Bms1	T	C	6: 118,388,760	Y1155C	probably benign	Het
Cbl	G	A	9: 44,152,854	T795I	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Cdc5l	C	A	17: 45,415,600	A349S	probably benign	Het
Cdh5	G	A	8: 104,129,371	R312H	probably benign	Het
Cdk5rap1	T	C	2: 154,346,012	T465A	probably damaging	Het
Cep135	C	T	5: 76,594,059	T114I	possibly damaging	Het
Csrp1	T	C	1: 135,739,450	V17A	probably damaging	Het
Cutal	T	C	2: 34,887,792	S105P	probably benign	Het
Dgki	C	A	6: 36,850,915	V1016L	probably benign	Het
Dnmt1	T	C	9: 20,918,540	N746S	probably benign	Het
Ep400	A	T	5: 110,693,278	V1796E	unknown	Het
Fam83a	T	A	15: 58,009,650	S292T	possibly damaging	Het
Hist1h2ab	A	G	13: 23,751,284	Y51C	probably damaging	Het
Keap1	C	A	9: 21,230,790	R596L	probably benign	Het
Klhl5	A	C	5: 65,162,962	T620P	probably benign	Het
Lbhd1	T	A	19: 8,883,977	D16E	possibly damaging	Het
Nadk2	T	C	15: 9,083,334	V110A	possibly damaging	Het
Ncbp1	A	T	4: 46,144,839	H30L	probably benign	Het
Olfr203	A	T	16: 59,303,409	L85F	possibly damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Pmp22	G	T	11: 63,133,076		probably benign	Het
Rc3h1	C	T	1: 160,965,772	L1076F	probably damaging	Het
Ryr3	T	C	2: 112,841,894	I1431V	possibly damaging	Het
S100a7a	T	A	3: 90,655,561	H18Q	probably damaging	Het
Scd2	G	T	19: 44,301,304	C246F	probably benign	Het
Serpina1c	T	C	12: 103,896,037	T340A	possibly damaging	Het
Setd5	A	G	6: 113,149,683	E1227G	probably benign	Het
Sh3yl1	G	A	12: 30,924,863	R71H	probably damaging	Het
Spry2	A	G	14: 105,893,402	S117P	probably damaging	Het
Srcap	T	C	7: 127,542,388	V1780A	probably benign	Het
Tas2r130	T	G	6: 131,630,827	T2P	probably benign	Het
Tiam2	T	A	17: 3,516,041	F1454I	probably damaging	Het
Tiam2	T	C	17: 3,516,042	F1454S	probably damaging	Het
Tmem173	A	C	18: 35,739,170	I93S	probably benign	Het
Tnpo3	A	G	6: 29,555,206	S793P	probably benign	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Ube2h	A	G	6: 30,260,941	S65P	probably damaging	Het
Vmn1r203	T	C	13: 22,524,834	S262P	probably damaging	Het
Wfdc8	A	G	2: 164,603,158	F179S	probably benign	Het
Wnk1	T	C	6: 119,934,427	T2153A	unknown	Het
Zfhx3	G	T	8: 108,856,753	G1084V	probably damaging	Het
Zfp273	A	G	13: 67,822,352	N40D	probably benign	Het
Zfp352	C	T	4: 90,224,243	P207S	possibly damaging	Het
Zfp952	T	A	17: 33,003,217	F223L	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
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
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
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'- CCAAAAGAGGTCTTCTGGGTG -3'
(R):5'- AAGAAAACCTCCTTGACGTCTAAGG -3'

Sequencing Primer
(F):5'- GGTGATGATTCCTCTACCTGGC -3'
(R):5'- ACTTGAGCTTCTTAGGGAGATG -3'

Posted On

2020-10-20