Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Ubap2l'

171457

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

039619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89907447-89959935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89941978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 203 (S203P)

Ref Sequence

ENSEMBL: ENSMUSP00000143254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000090908] [ENSMUST00000195995] [ENSMUST00000196633] [ENSMUST00000196843] [ENSMUST00000198322] [ENSMUST00000199834]

AlphaFold

Q80X50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029553
AA Change: S192P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: S192P

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: S192P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: S192P

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

possibly damaging
Transcript: ENSMUST00000090908
AA Change: S192P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: S192P

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: S203P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: S203P

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: ENSMUST00000196633

SMART Domains

Protein: ENSMUSP00000143423
Gene: ENSMUSG00000042520

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
UBA	50	88	6.3e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196843
AA Change: S192P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: S192P

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: S192P

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

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: S192P

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: S203P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: S203P

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: ENSMUST00000199016

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

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
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,330,926 (GRCm39)	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Ddx25	T	C	9: 35,457,272 (GRCm39)	T348A	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc15	A	T	2: 110,567,817 (GRCm39)	M321L	probably benign	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Relt	C	T	7: 100,500,560 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Thbs2	G	T	17: 14,891,550 (GRCm39)	P996T	probably damaging	Het
Tmem131l	T	C	3: 83,839,090 (GRCm39)	Q620R	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly damaging	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
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
R6995:Ubap2l	UTSW	3	89,916,548 (GRCm39)	missense	probably damaging	0.98
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'- GCTACTGGGAAATGGCATAGCATAAGC -3'
(R):5'- TGCTAAGATGTCAAGCACTTTACCTGC -3'

Sequencing Primer
(F):5'- tttcagaggctgaggcaagac -3'
(R):5'- ATGTCAAGCACTTTACCTGCATTATC -3'

Posted On

2014-04-13