Mutagenetix > Incidental Mutation

Incidental Mutation 'R1191:Ubap2l'

100779

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

039263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89907447-89959935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89930882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 357 (T357A)

Ref Sequence

ENSEMBL: ENSMUSP00000142524 (fasta)

Gene Model

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

AlphaFold

Q80X50

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029553
AA Change: T377A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
AA Change: T377A

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: T382A

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
AA Change: T382A

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: T357A

SMART Domains

Protein: ENSMUSP00000088424
Gene: ENSMUSG00000042520
AA Change: T357A

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: T388A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143638
Gene: ENSMUSG00000042520
AA Change: T388A

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

possibly damaging
Transcript: ENSMUST00000196843
AA Change: T377A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
AA Change: T377A

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 damaging
Transcript: ENSMUST00000198322
AA Change: T357A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
AA Change: T357A

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 benign
Transcript: ENSMUST00000199834
AA Change: T388A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143254
Gene: ENSMUSG00000042520
AA Change: T388A

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: ENSMUST00000199301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200320

Predicted Effect

probably benign
Transcript: ENSMUST00000197177

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.1%
20x: 87.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd27	T	C	7: 35,301,912 (GRCm39)	F144L	probably damaging	Het
C8b	C	T	4: 104,650,520 (GRCm39)	P377S	probably damaging	Het
Cfi	C	A	3: 129,662,176 (GRCm39)	T385N	probably benign	Het
Col15a1	G	T	4: 47,254,083 (GRCm39)	G300*	probably null	Het
Crlf1	G	A	8: 70,951,478 (GRCm39)	C119Y	probably damaging	Het
Dcaf4	A	T	12: 83,582,741 (GRCm39)	S279C	probably damaging	Het
Gde1	A	T	7: 118,304,664 (GRCm39)	H70Q	probably damaging	Het
Gpt2	A	T	8: 86,235,901 (GRCm39)	N179I	probably damaging	Het
Grik5	G	A	7: 24,757,750 (GRCm39)	Q410*	probably null	Het
Hspa2	C	T	12: 76,452,655 (GRCm39)	R450W	probably damaging	Het
Idh3b	A	T	2: 130,123,810 (GRCm39)	M118K	probably benign	Het
Ighv5-21	T	C	12: 114,286,423 (GRCm39)		probably benign	Het
Il12rb2	C	T	6: 67,275,200 (GRCm39)	V642M	possibly damaging	Het
Iqcg	A	G	16: 32,870,313 (GRCm39)	V60A	probably benign	Het
Irx6	T	A	8: 93,403,580 (GRCm39)	Y102N	probably damaging	Het
Itgb6	C	T	2: 60,483,481 (GRCm39)		probably null	Het
Mmp27	A	T	9: 7,579,067 (GRCm39)		probably null	Het
Or10d5j	A	T	9: 39,868,264 (GRCm39)	M1K	probably null	Het
Or1j21	T	A	2: 36,683,350 (GRCm39)	M34K	probably damaging	Het
Or2f2	C	A	6: 42,767,451 (GRCm39)	H159Q	probably benign	Het
Or5k8	T	A	16: 58,644,922 (GRCm39)	Y50F	probably benign	Het
Or8c8	G	T	9: 38,165,501 (GRCm39)	V263F	probably damaging	Het
Pcdhb16	A	G	18: 37,612,926 (GRCm39)	R629G	probably damaging	Het
Pde3b	A	T	7: 114,118,810 (GRCm39)	M650L	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Skint3	T	A	4: 112,092,939 (GRCm39)	M1K	probably null	Het
Strn	T	C	17: 78,999,855 (GRCm39)	Q127R	possibly damaging	Het
Taar2	T	G	10: 23,816,927 (GRCm39)	W156G	probably damaging	Het
Trpt1	G	T	19: 6,974,138 (GRCm39)	M45I	probably benign	Het
Ubr3	C	T	2: 69,851,525 (GRCm39)	R1831*	probably null	Het
Unc79	T	A	12: 103,013,271 (GRCm39)	Y287*	probably null	Het
Utrn	T	A	10: 12,509,777 (GRCm39)	K2398N	probably benign	Het
Vav2	A	T	2: 27,182,792 (GRCm39)		probably null	Het
Vps9d1	A	T	8: 123,974,706 (GRCm39)	H249Q	possibly damaging	Het
Vwf	T	A	6: 125,576,215 (GRCm39)	C432S	probably damaging	Het
Zfp369	T	A	13: 65,439,776 (GRCm39)	Y153*	probably null	Het
Zfp760	C	T	17: 21,942,286 (GRCm39)	P487L	probably damaging	Het
Zswim2	A	C	2: 83,754,039 (GRCm39)	V207G	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
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

Predicted Primers

PCR Primer
(F):5'- CATCAACTTACCATACTGCACCAGTGA -3'
(R):5'- CCACTCTCCATTGCAAGAAACTTTTGAC -3'

Sequencing Primer
(F):5'- TACTGCACCAGTGATGGTGATTG -3'
(R):5'- cctcttgtctctgccttcc -3'

Posted On

2014-01-15