Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Ubqlnl'

234393

Institutional Source

Beutler Lab

Gene Symbol

Ubqlnl

Ensembl Gene

ENSMUSG00000051437

Gene Name

ubiquilin-like

Synonyms

4922504M18Rik, LOC244179

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

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

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103797466-103799763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103797890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 536 (C536S)

Ref Sequence

ENSEMBL: ENSMUSP00000056365 (fasta)

Gene Model

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

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: C536S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: C536S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Add2	T	C	6: 86,075,580 (GRCm39)	L243P	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm39)	T424K	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Otop1	T	A	5: 38,460,194 (GRCm39)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,739,803 (GRCm39)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,834,039 (GRCm39)	N241K	probably benign	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	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
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
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'- TAGCAGCATTAGTGTCACCATC -3'
(R):5'- GCTTTTAGCCCTAGCCAACC -3'

Sequencing Primer
(F):5'- GTGTCACCATCAGTAGCTATGAGC -3'
(R):5'- CCCAAAACATCACAAGCATTATTAC -3'

Posted On

2014-10-01