Mutagenetix > Incidental Mutation

Incidental Mutation 'R2408:Ubap2l'

332084

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

040374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2408 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89907447-89959935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89916439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 925 (Q925R)

Ref Sequence

ENSEMBL: ENSMUSP00000088424 (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: Q945R

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: Q945R

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: Q950R

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: Q950R

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: Q925R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: Q925R

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: Q956R

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: Q956R

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 null
Transcript: ENSMUST00000196843
AA Change: Q945R

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: Q945R

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: ENSMUST00000197177
AA Change: Q446R

Predicted Effect

probably null
Transcript: ENSMUST00000198322
AA Change: Q925R

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: Q925R

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: ENSMUST00000199834
AA Change: Q956R

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: Q956R

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

Meta Mutation Damage Score

0.8049

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (33/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,730,121 (GRCm39)	L103V	probably null	Het
BC051076	C	T	5: 88,111,684 (GRCm39)		noncoding transcript	Het
Ccdc191	A	T	16: 43,751,561 (GRCm39)	Q239L	probably benign	Het
Dennd4b	G	T	3: 90,178,882 (GRCm39)	G538*	probably null	Het
Dipk1a	T	C	5: 108,062,291 (GRCm39)	D78G	possibly damaging	Het
Dusp7	C	T	9: 106,246,361 (GRCm39)	A122V	probably benign	Het
Exd2	T	G	12: 80,531,015 (GRCm39)		probably benign	Het
Gm10782	C	A	13: 56,510,944 (GRCm39)		noncoding transcript	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hhipl1	T	A	12: 108,284,806 (GRCm39)	D386E	probably benign	Het
Hnf1a	C	T	5: 115,098,070 (GRCm39)		probably null	Het
Ifi204	A	G	1: 173,583,198 (GRCm39)	F340S	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Med26	T	C	8: 73,249,476 (GRCm39)	D541G	probably benign	Het
Mgam	T	A	6: 40,663,456 (GRCm39)	L1218Q	probably damaging	Het
Msh5	T	C	17: 35,264,095 (GRCm39)	D136G	probably damaging	Het
Nbl1	C	T	4: 138,810,843 (GRCm39)	C117Y	probably damaging	Het
Niban2	A	G	2: 32,813,482 (GRCm39)	Y565C	probably damaging	Het
Noct	T	C	3: 51,132,710 (GRCm39)		probably null	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Prmt2	A	T	10: 76,044,301 (GRCm39)	M417K	probably damaging	Het
Rptor	A	G	11: 119,748,277 (GRCm39)	E3G	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc13a5	A	G	11: 72,152,902 (GRCm39)	S60P	probably damaging	Het
Sycp1	T	C	3: 102,832,575 (GRCm39)	Y197C	probably damaging	Het
Tmem222	T	C	4: 132,998,335 (GRCm39)	H73R	possibly damaging	Het
Trmt1l	G	A	1: 151,315,267 (GRCm39)	G151D	possibly damaging	Het
Ttc16	A	G	2: 32,658,020 (GRCm39)	F409L	probably benign	Het
Ucn3	T	G	13: 3,991,413 (GRCm39)	I80L	probably benign	Het
Vwa3a	T	C	7: 120,372,517 (GRCm39)	S302P	probably benign	Het
Zfp804b	A	T	5: 7,229,410 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,848,937 (GRCm39)	E144G	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
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
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'- ATACCCTTTATTCCCAGGCCAG -3'
(R):5'- CACATTATAGAGTGTACAGCTGCC -3'

Sequencing Primer
(F):5'- CTTTATTCCCAGGCCAGAAATGG -3'
(R):5'- TAGGCGACCTCACCAAATTCGG -3'

Posted On

2015-07-27