Mutagenetix > Incidental Mutation

Incidental Mutation 'R4132:Ubap2l'

314697

Institutional Source

Beutler Lab

Gene Symbol

Ubap2l

Ensembl Gene

ENSMUSG00000042520

Gene Name

ubiquitin-associated protein 2-like

Synonyms

4932431F02Rik, A430103N23Rik, NICE-4, 3110083O19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4132 (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 89916491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 908 (Y908H)

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: Y928H

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: Y928H

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: Y933H

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: Y933H

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: Y908H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: Y908H

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: Y939H

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: Y939H

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

unknown
Transcript: ENSMUST00000196843
AA Change: Y928H

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: Y928H

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: ENSMUST00000199834
AA Change: Y939H

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: Y939H

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: Y908H

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: Y908H

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

unknown
Transcript: ENSMUST00000197177
AA Change: Y429H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200320

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy1	T	C	1: 92,812,822 (GRCm39)	M496V	probably benign	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Cmklr1	C	A	5: 113,752,545 (GRCm39)	R152L	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Gm1527	A	T	3: 28,974,779 (GRCm39)	I531L	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Heca	A	G	10: 17,777,987 (GRCm39)	S537P	probably damaging	Het
Icam5	T	C	9: 20,947,953 (GRCm39)	I617T	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhdc4	C	T	8: 122,524,804 (GRCm39)	G375R	possibly damaging	Het
Myo5c	G	A	9: 75,159,850 (GRCm39)	V293I	probably benign	Het
Ncbp1	C	T	4: 46,169,241 (GRCm39)	R672*	probably null	Het
Pcdhga2	T	C	18: 37,803,107 (GRCm39)	I317T	possibly damaging	Het
Safb	C	A	17: 56,907,848 (GRCm39)		probably benign	Het
Tspan5	C	T	3: 138,602,628 (GRCm39)	R106*	probably null	Het
Uspl1	A	G	5: 149,141,159 (GRCm39)	N372S	probably damaging	Het
Vmn1r210	T	C	13: 23,011,819 (GRCm39)	I156V	probably benign	Het
Zbtb8os	A	G	4: 129,229,906 (GRCm39)	Y24C	probably 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
R1582:Ubap2l	UTSW	3	89,941,978 (GRCm39)	missense	probably damaging	1.00
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
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'- ATACCCTTTATTCCCAGGCCAG -3'
(R):5'- CACATTATAGAGTGTACAGCTGCC -3'

Sequencing Primer
(F):5'- TGGGCCAAAGGTACAAGTTATCCTC -3'
(R):5'- GTACAGCTGCCCTTCTTTTCATAGG -3'

Posted On

2015-05-14