Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Ubap2l'

53480

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

89907447-89959935 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 89916563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 915 (Q915*)

Ref Sequence

ENSEMBL: ENSMUSP00000143254 (fasta)

Gene Model

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

AlphaFold

Q80X50

Predicted Effect

probably null
Transcript: ENSMUST00000029553
AA Change: Q904*

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: Q904*

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 null
Transcript: ENSMUST00000064639
AA Change: Q909*

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: Q909*

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 null
Transcript: ENSMUST00000090908
AA Change: Q884*

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: Q884*

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

probably null
Transcript: ENSMUST00000195995
AA Change: Q915*

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: Q915*

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: ENSMUST00000196747

Predicted Effect

probably null
Transcript: ENSMUST00000196843
AA Change: Q904*

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: Q904*

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 null
Transcript: ENSMUST00000198322
AA Change: Q884*

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: Q884*

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 null
Transcript: ENSMUST00000197177
AA Change: Q405*

Predicted Effect

probably null
Transcript: ENSMUST00000199834
AA Change: Q915*

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: Q915*

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

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,279,934 (GRCm39)	R517*	probably null	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Cnbp	C	T	6: 87,822,682 (GRCm39)	R27H	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,519,368 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
H1f6	C	T	13: 23,880,032 (GRCm39)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Or5h22	T	A	16: 58,894,793 (GRCm39)	T217S	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,404,740 (GRCm39)	D202G	probably damaging	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	probably benign	Het

Other mutations in Ubap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-28