Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Ubap2l'

50101

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

038415-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0130 (G1)

Quality Score

205

Status

Validated (trace)

Chromosome

Chromosomal Location

90000140-90052628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90021373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 478 (S478T)

Ref Sequence

ENSEMBL: ENSMUSP00000066138 (fasta)

Gene Model

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

AlphaFold

Q80X50

Predicted Effect

probably benign
Transcript: ENSMUST00000029553
AA Change: S473T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: S473T

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

possibly damaging
Transcript: ENSMUST00000064639
AA Change: S478T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: S478T

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: S453T

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: S453T

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 benign
Transcript: ENSMUST00000195995
AA Change: S484T

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: S484T

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

probably benign
Transcript: ENSMUST00000196843
AA Change: S473T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: S473T

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

noncoding transcript
Transcript: ENSMUST00000196952

Predicted Effect

probably benign
Transcript: ENSMUST00000197177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197633

Predicted Effect

probably benign
Transcript: ENSMUST00000198322
AA Change: S453T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: S453T

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: ENSMUST00000199301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199612

Predicted Effect

probably benign
Transcript: ENSMUST00000199834
AA Change: S484T

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: S484T

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: ENSMUST00000200195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200320

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,686,666	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Apol7c	A	G	15: 77,526,362	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Arfip2	A	G	7: 105,638,998		probably benign	Het
Atp5j2	A	T	5: 145,188,182		probably benign	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
Cd22	A	G	7: 30,869,964	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,069,962	T613A	probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Cenpc1	A	T	5: 86,046,546	D120E	probably benign	Het
Chd3	T	A	11: 69,359,830	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,921,913	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dync1h1	C	A	12: 110,618,674	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,881,732		probably benign	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Fat2	T	A	11: 55,252,118	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Gde1	A	T	7: 118,695,060	F63L	probably benign	Het
Gjc3	A	G	5: 137,957,940	S28P	probably benign	Het
Gm10250	G	A	15: 5,120,991		probably null	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k11	T	C	19: 5,690,815	L190P	probably damaging	Het
Mki67	T	A	7: 135,696,459	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,309,008	I272F	probably damaging	Het
Myom1	A	T	17: 71,045,755	D358V	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Nebl	T	C	2: 17,390,926		probably benign	Het
Nlrp2	T	A	7: 5,322,418	N14Y	possibly damaging	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr304	T	C	7: 86,386,306	Y118C	probably damaging	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pld2	T	G	11: 70,554,348	N591K	probably benign	Het
Plekha7	A	G	7: 116,170,704	M276T	probably damaging	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Prtg	A	G	9: 72,809,716	Y113C	probably damaging	Het
Rab38	T	A	7: 88,450,541	I88N	probably damaging	Het
Rbfox2	A	G	15: 77,091,857		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,156,407	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,471,448	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Tectb	G	T	19: 55,181,961	K81N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Tiam1	T	C	16: 89,897,754	M272V	probably benign	Het
Trav13-3	T	A	14: 53,729,776		noncoding transcript	Het
Vmn2r85	A	G	10: 130,419,185		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
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
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'- CCACAGCCAGAGCAGGAATCTATG -3'
(R):5'- TGGCAAGAATCTTTATGCACTGAGAGC -3'

Sequencing Primer
(F):5'- ATAAACCCTTAGACTATCTCATCCTG -3'
(R):5'- ATGCACTGAGAGCCATTTTGC -3'

Posted On

2013-06-12