Mutagenetix > Incidental Mutation

Incidental Mutation 'R4522:Ubqlnl'

334267

Institutional Source

Beutler Lab

Gene Symbol

Ubqlnl

Ensembl Gene

ENSMUSG00000051437

Gene Name

ubiquilin-like

Synonyms

4922504M18Rik, LOC244179

MMRRC Submission

041765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103797466-103799763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103798925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 191 (V191M)

Ref Sequence

ENSEMBL: ENSMUSP00000056365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051137] [ENSMUST00000059121] [ENSMUST00000154555]

AlphaFold

Q14DL0

PDB Structure

Solution Structure of RSGI RUH-056, a UBA domain from mouse cDNA [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000051137

SMART Domains

Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	47	85	N/A	INTRINSIC
coiled coil region	157	198	N/A	INTRINSIC
OLF	211	468	3.13e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059121
AA Change: V191M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: V191M

Domain	Start	End	E-Value	Type
UBQ	31	101	5.13e-16	SMART
Blast:STI1	199	237	8e-11	BLAST
low complexity region	339	350	N/A	INTRINSIC
low complexity region	402	419	N/A	INTRINSIC
PDB:2DNA\|A	561	610	3e-26	PDB
Blast:UBA	568	604	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154555

SMART Domains

Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	47	123	N/A	INTRINSIC
OLF	136	304	3.65e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal in terms of growth and behavior. Adult males are fertile and show no apparent defects in spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Babam2	G	A	5: 32,164,586 (GRCm39)	V287M	probably damaging	Het
Brip1	T	C	11: 86,080,627 (GRCm39)	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,544,442 (GRCm39)	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Chaf1b	G	A	16: 93,698,183 (GRCm39)	A485T	probably benign	Het
Dock7	T	C	4: 98,850,461 (GRCm39)	R1594G	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Mark2	A	T	19: 7,263,313 (GRCm39)	D151E	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nwd1	A	T	8: 73,397,579 (GRCm39)	D606V	probably damaging	Het
Or8w1	T	A	2: 87,465,495 (GRCm39)	I199L	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcbp1	T	C	6: 86,502,032 (GRCm39)	N289S	probably benign	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,512,041 (GRCm39)	L55P	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23b	T	A	2: 144,420,286 (GRCm39)	I450N	possibly damaging	Het
Speg	A	G	1: 75,404,974 (GRCm39)	E2922G	probably damaging	Het
Spem1	C	A	11: 69,712,631 (GRCm39)		probably null	Het
Stxbp3-ps	A	T	19: 9,536,474 (GRCm39)		noncoding transcript	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,499,866 (GRCm39)	T129A	probably benign	Het
Ttc28	A	G	5: 111,428,038 (GRCm39)	T1845A	probably benign	Het
Ush2a	C	T	1: 188,596,822 (GRCm39)	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het
Zfp105	T	A	9: 122,759,121 (GRCm39)	V264E	possibly damaging	Het

Other mutations in Ubqlnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ubqlnl	APN	7	103,798,372 (GRCm39)	missense	probably benign
IGL01592:Ubqlnl	APN	7	103,799,496 (GRCm39)	unclassified	probably benign
IGL01972:Ubqlnl	APN	7	103,798,904 (GRCm39)	missense	probably benign	0.00
IGL02266:Ubqlnl	APN	7	103,798,754 (GRCm39)	nonsense	probably null
IGL02447:Ubqlnl	APN	7	103,797,856 (GRCm39)	missense	probably damaging	1.00
IGL03232:Ubqlnl	APN	7	103,797,836 (GRCm39)	missense	possibly damaging	0.71
FR4737:Ubqlnl	UTSW	7	103,799,042 (GRCm39)	unclassified	probably benign
R0066:Ubqlnl	UTSW	7	103,798,145 (GRCm39)	missense	probably damaging	0.98
R0066:Ubqlnl	UTSW	7	103,798,145 (GRCm39)	missense	probably damaging	0.98
R0077:Ubqlnl	UTSW	7	103,799,254 (GRCm39)	missense	probably damaging	1.00
R0109:Ubqlnl	UTSW	7	103,799,399 (GRCm39)	missense	probably damaging	1.00
R0109:Ubqlnl	UTSW	7	103,799,399 (GRCm39)	missense	probably damaging	1.00
R0517:Ubqlnl	UTSW	7	103,797,845 (GRCm39)	missense	probably damaging	1.00
R1129:Ubqlnl	UTSW	7	103,798,857 (GRCm39)	missense	probably damaging	0.98
R1885:Ubqlnl	UTSW	7	103,799,272 (GRCm39)	missense	possibly damaging	0.88
R1987:Ubqlnl	UTSW	7	103,797,692 (GRCm39)	missense	probably benign
R2151:Ubqlnl	UTSW	7	103,797,890 (GRCm39)	missense	probably benign	0.00
R2152:Ubqlnl	UTSW	7	103,797,890 (GRCm39)	missense	probably benign	0.00
R2153:Ubqlnl	UTSW	7	103,797,890 (GRCm39)	missense	probably benign	0.00
R3712:Ubqlnl	UTSW	7	103,798,345 (GRCm39)	missense	probably benign	0.03
R3914:Ubqlnl	UTSW	7	103,798,813 (GRCm39)	missense	probably benign
R4367:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4404:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4405:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4406:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4407:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4449:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4458:Ubqlnl	UTSW	7	103,798,396 (GRCm39)	missense	probably benign	0.01
R4508:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4516:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4517:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4518:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4523:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4524:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4529:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4531:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4738:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4739:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4740:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R5339:Ubqlnl	UTSW	7	103,798,972 (GRCm39)	missense	probably benign	0.00
R5357:Ubqlnl	UTSW	7	103,798,138 (GRCm39)	missense	probably damaging	1.00
R5386:Ubqlnl	UTSW	7	103,798,424 (GRCm39)	missense	probably benign	0.01
R5542:Ubqlnl	UTSW	7	103,798,904 (GRCm39)	nonsense	probably null
R5588:Ubqlnl	UTSW	7	103,798,339 (GRCm39)	missense	probably damaging	1.00
R6058:Ubqlnl	UTSW	7	103,797,959 (GRCm39)	missense	probably benign
R6084:Ubqlnl	UTSW	7	103,797,905 (GRCm39)	missense	probably benign	0.01
R6207:Ubqlnl	UTSW	7	103,797,915 (GRCm39)	missense	possibly damaging	0.73
R6794:Ubqlnl	UTSW	7	103,797,992 (GRCm39)	missense	probably benign	0.34
R7500:Ubqlnl	UTSW	7	103,798,048 (GRCm39)	missense	probably damaging	1.00
R7575:Ubqlnl	UTSW	7	103,797,697 (GRCm39)	missense	probably damaging	1.00
R8491:Ubqlnl	UTSW	7	103,798,582 (GRCm39)	missense	probably benign	0.22
R8757:Ubqlnl	UTSW	7	103,799,206 (GRCm39)	missense	probably damaging	1.00
R8759:Ubqlnl	UTSW	7	103,799,206 (GRCm39)	missense	probably damaging	1.00
R9324:Ubqlnl	UTSW	7	103,798,962 (GRCm39)	missense	possibly damaging	0.74
R9366:Ubqlnl	UTSW	7	103,798,592 (GRCm39)	missense	possibly damaging	0.75
R9651:Ubqlnl	UTSW	7	103,799,122 (GRCm39)	missense	possibly damaging	0.46
Z1088:Ubqlnl	UTSW	7	103,799,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Ubqlnl	UTSW	7	103,797,835 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCAAGAATGGCTGTGAGTTTG -3'
(R):5'- ATCCCTGCCATCAAGACAGG -3'

Sequencing Primer
(F):5'- AGTTTGGTGGATACTCAGGGTTC -3'
(R):5'- CCCTAAAGGAAATAGCAGCATG -3'

Posted On

2015-08-18