Mutagenetix > Incidental Mutation

Incidental Mutation 'R4517:Ubqlnl'

332950

Institutional Source

Beutler Lab

Gene Symbol

Ubqlnl

Ensembl Gene

ENSMUSG00000051437

Gene Name

ubiquilin-like

Synonyms

4922504M18Rik, LOC244179

MMRRC Submission

041761-MU

Accession Numbers

Essential gene?

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

Stock #

R4517 (G1)

Quality Score

225

Status

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: 99.4%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (39/41)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank	A	G	15: 27,562,835 (GRCm39)	H181R	possibly damaging	Het
B4galnt4	A	G	7: 140,647,635 (GRCm39)	K408E	probably damaging	Het
Cd209a	T	A	8: 3,795,525 (GRCm39)	D123V	probably damaging	Het
Cyp4f37	A	G	17: 32,850,566 (GRCm39)	I340V	probably benign	Het
Echs1	A	G	7: 139,692,409 (GRCm39)	S113P	possibly damaging	Het
Fap	T	C	2: 62,361,059 (GRCm39)	I391V	probably benign	Het
Glb1l	C	T	1: 75,185,347 (GRCm39)	C121Y	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Ibsp	C	A	5: 104,453,863 (GRCm39)	S67*	probably null	Het
Ifit1bl2	C	T	19: 34,607,164 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,800,569 (GRCm39)		probably null	Het
Kcnma1	A	G	14: 23,387,097 (GRCm39)	S982P	probably damaging	Het
Kif5b	T	C	18: 6,213,272 (GRCm39)	S707G	probably benign	Het
Lrrk2	A	G	15: 91,589,323 (GRCm39)	I437V	probably benign	Het
Mapkbp1	T	C	2: 119,855,545 (GRCm39)		probably benign	Het
Mcu	T	C	10: 59,303,456 (GRCm39)	Y127C	probably damaging	Het
Mlst8	T	C	17: 24,695,031 (GRCm39)	Y284C	probably damaging	Het
Nr2f2	T	G	7: 70,007,870 (GRCm39)	N204T	probably benign	Het
Or13a26	A	G	7: 140,285,004 (GRCm39)	Y280C	probably damaging	Het
Or7a42	T	A	10: 78,791,877 (GRCm39)	Y279*	probably null	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcf11	T	C	7: 92,295,696 (GRCm39)	Y1451C	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Rttn	T	C	18: 89,047,097 (GRCm39)	S920P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Tas2r135	A	T	6: 42,383,013 (GRCm39)	H184L	probably benign	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Vmn2r102	A	G	17: 19,901,475 (GRCm39)	Y534C	probably damaging	Het
Wdr62	A	G	7: 29,969,683 (GRCm39)	V259A	probably damaging	Het
Whrn	A	G	4: 63,379,517 (GRCm39)		probably null	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
R4518:Ubqlnl	UTSW	7	103,798,925 (GRCm39)	missense	probably benign	0.00
R4522: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'- GGATACTCAGGGTTCTGTGC -3'
(R):5'- TTCCGGAACCTGGTAACCAAC -3'

Sequencing Primer
(F):5'- CTGGCTGCTGGATCTGCATTATC -3'
(R):5'- TCCCTGCCATCAAGACAGG -3'

Posted On

2015-08-18