Mutagenetix > Incidental Mutation

Incidental Mutation 'R1572:Uchl4'

170860

Institutional Source

Beutler Lab

Gene Symbol

Uchl4

Ensembl Gene

ENSMUSG00000035337

Gene Name

ubiquitin carboxyl-terminal esterase L4

Synonyms

MMRRC Submission

039611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64235201-64236362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64235731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 165 (I165L)

Ref Sequence

ENSEMBL: ENSMUSP00000045208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005066] [ENSMUST00000039011]

AlphaFold

P58321

Predicted Effect

probably benign
Transcript: ENSMUST00000005066

SMART Domains

Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936

Domain	Start	End	E-Value	Type
low complexity region	30	51	N/A	INTRINSIC
S_TKc	68	361	4.44e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039011
AA Change: I165L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: I165L

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C12	6	217	2.2e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214497

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 92.9%
20x: 80.7%

Validation Efficiency

97% (130/134)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	G	A	9: 50,740,673 (GRCm38)	T85M	probably damaging	Het
5430419D17Rik	T	A	7: 131,244,831 (GRCm38)	Y777*	probably null	Het
Actn1	A	G	12: 80,172,957 (GRCm38)		probably benign	Het
Afap1l1	A	T	18: 61,737,499 (GRCm38)	S603T	probably damaging	Het
Ahcy	T	C	2: 155,068,931 (GRCm38)	Y39C	probably benign	Het
Ankmy2	T	C	12: 36,186,942 (GRCm38)		probably null	Het
Anxa13	A	T	15: 58,348,807 (GRCm38)		noncoding transcript	Het
Aoc1	T	C	6: 48,905,786 (GRCm38)	S221P	possibly damaging	Het
Arhgef10	C	A	8: 14,991,211 (GRCm38)	A770D	possibly damaging	Het
Arhgef19	A	G	4: 141,254,754 (GRCm38)	D707G	probably benign	Het
Arhgef3	G	A	14: 27,401,735 (GRCm38)	R444H	probably damaging	Het
Asphd1	T	C	7: 126,949,099 (GRCm38)	I11V	probably benign	Het
Atp2b1	A	G	10: 98,994,675 (GRCm38)	M333V	probably benign	Het
BC051665	T	C	13: 60,785,027 (GRCm38)	Y40C	probably damaging	Het
Ccdc87	T	A	19: 4,840,313 (GRCm38)	S278T	probably benign	Het
Chaf1b	G	A	16: 93,901,230 (GRCm38)	G463D	possibly damaging	Het
Chrna4	T	C	2: 181,029,307 (GRCm38)	T219A	possibly damaging	Het
Clcnkb	T	G	4: 141,407,095 (GRCm38)	T584P	possibly damaging	Het
Clptm1l	T	C	13: 73,607,747 (GRCm38)	S161P	probably benign	Het
Cmya5	T	C	13: 93,094,269 (GRCm38)	E1437G	possibly damaging	Het
Col13a1	A	T	10: 61,866,426 (GRCm38)		probably null	Het
Col3a1	T	C	1: 45,345,968 (GRCm38)	S82P	possibly damaging	Het
Cpeb3	A	T	19: 37,139,082 (GRCm38)	M383K	probably benign	Het
Cr2	T	A	1: 195,163,314 (GRCm38)	H111L	probably damaging	Het
Cttnbp2	T	C	6: 18,375,975 (GRCm38)	S1522G	possibly damaging	Het
Cul3	T	C	1: 80,282,789 (GRCm38)	D281G	possibly damaging	Het
Cyp2c70	T	G	19: 40,183,982 (GRCm38)	K72T	probably benign	Het
Cyp39a1	A	T	17: 43,680,129 (GRCm38)	I110F	probably damaging	Het
Cyp46a1	T	A	12: 108,351,939 (GRCm38)	M203K	probably null	Het
Cyp8b1	A	T	9: 121,914,958 (GRCm38)	V436D	possibly damaging	Het
Ddx17	T	C	15: 79,538,565 (GRCm38)	D324G	probably damaging	Het
Dopey2	A	G	16: 93,770,153 (GRCm38)	N1274S	probably damaging	Het
Dscaml1	G	A	9: 45,721,333 (GRCm38)	V1166I	probably benign	Het
Dsp	T	C	13: 38,195,738 (GRCm38)	V1554A	probably damaging	Het
Dusp27	C	T	1: 166,099,455 (GRCm38)	V863M	possibly damaging	Het
Efr3a	T	A	15: 65,854,792 (GRCm38)		probably null	Het
Egfem1	A	T	3: 29,648,271 (GRCm38)	N223I	probably benign	Het
Egr2	T	C	10: 67,539,975 (GRCm38)	S147P	probably damaging	Het
Elmo3	A	G	8: 105,308,301 (GRCm38)	T408A	probably benign	Het
Flnb	A	G	14: 7,883,908 (GRCm38)	D378G	probably damaging	Het
Foxj2	T	A	6: 122,833,261 (GRCm38)	M193K	probably benign	Het
Gm6327	A	G	16: 12,760,156 (GRCm38)		noncoding transcript	Het
Gm7694	T	C	1: 170,302,766 (GRCm38)	H21R	probably benign	Het
Gpr107	A	G	2: 31,167,025 (GRCm38)	D43G	probably damaging	Het
Grid2	T	A	6: 64,429,694 (GRCm38)	Y679*	probably null	Het
Grin2c	G	A	11: 115,256,074 (GRCm38)	P432S	possibly damaging	Het
H2-M10.1	A	G	17: 36,325,733 (GRCm38)	F60L	possibly damaging	Het
Hectd4	A	G	5: 121,301,878 (GRCm38)	D1147G	possibly damaging	Het
Idua	G	T	5: 108,680,589 (GRCm38)	A223S	probably benign	Het
Ifi206	T	C	1: 173,486,853 (GRCm38)	Q7R	probably benign	Het
Itgad	T	A	7: 128,203,234 (GRCm38)	V986E	probably damaging	Het
Itsn2	G	A	12: 4,650,044 (GRCm38)	R670H	probably benign	Het
Kdm4a	T	C	4: 118,138,949 (GRCm38)	E961G	possibly damaging	Het
Klra5	T	A	6: 129,906,622 (GRCm38)	I91L	probably damaging	Het
Kntc1	A	G	5: 123,772,113 (GRCm38)	T525A	probably damaging	Het
Lct	A	G	1: 128,294,195 (GRCm38)	F1536L	probably benign	Het
Lmod1	T	A	1: 135,363,933 (GRCm38)	D175E	probably benign	Het
Lonrf1	A	C	8: 36,233,972 (GRCm38)	D361E	probably benign	Het
Lrrc19	T	C	4: 94,638,429 (GRCm38)	Y297C	probably damaging	Het
Mast4	T	C	13: 102,736,923 (GRCm38)	E1787G	possibly damaging	Het
Mpp2	G	A	11: 102,060,548 (GRCm38)	A452V	probably benign	Het
Msh2	T	C	17: 87,718,652 (GRCm38)	V686A	possibly damaging	Het
Mthfd1	C	T	12: 76,270,419 (GRCm38)	Q15*	probably null	Het
Mtnr1b	A	T	9: 15,863,142 (GRCm38)	I207N	probably damaging	Het
Nid2	A	G	14: 19,805,412 (GRCm38)	T1207A	probably benign	Het
Nin	A	T	12: 70,038,750 (GRCm38)	V1569D	probably damaging	Het
Nov	T	A	15: 54,749,252 (GRCm38)	M219K	possibly damaging	Het
Nrcam	T	A	12: 44,537,364 (GRCm38)		probably benign	Het
Nsd1	T	A	13: 55,246,969 (GRCm38)	H897Q	probably damaging	Het
Olfr102	A	T	17: 37,313,480 (GRCm38)	N301K	probably benign	Het
Olfr1364	T	A	13: 21,574,310 (GRCm38)	I49F	possibly damaging	Het
Olfr77	G	T	9: 19,920,912 (GRCm38)	K234N	probably benign	Het
Olfr979	A	G	9: 40,001,194 (GRCm38)	F11S	probably benign	Het
Paip1	T	C	13: 119,451,784 (GRCm38)		probably benign	Het
Pcnx3	G	A	19: 5,685,347 (GRCm38)	R484*	probably null	Het
Pdxk	A	G	10: 78,447,980 (GRCm38)	Y127H	probably damaging	Het
Phf20	T	A	2: 156,287,834 (GRCm38)	V442E	probably benign	Het
Phlpp1	G	A	1: 106,392,789 (GRCm38)	D1505N	probably damaging	Het
Pkhd1	T	C	1: 20,347,440 (GRCm38)	T2496A	probably benign	Het
Pkhd1l1	A	G	15: 44,543,473 (GRCm38)	T2369A	probably benign	Het
Plod2	T	A	9: 92,603,067 (GRCm38)		probably benign	Het
Pnpla7	T	A	2: 25,015,251 (GRCm38)	M617K	possibly damaging	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Prkch	T	A	12: 73,649,357 (GRCm38)		probably null	Het
Prr12	G	A	7: 45,028,800 (GRCm38)	H1974Y	unknown	Het
Prr16	A	G	18: 51,302,970 (GRCm38)	I174V	probably benign	Het
Prss45	A	T	9: 110,838,429 (GRCm38)	T39S	probably benign	Het
Pum1	T	A	4: 130,718,204 (GRCm38)	D161E	probably damaging	Het
Rad51ap2	A	G	12: 11,457,112 (GRCm38)	D345G	probably damaging	Het
Ralgapb	A	G	2: 158,446,199 (GRCm38)		probably benign	Het
Rasgrp3	A	G	17: 75,500,734 (GRCm38)	H262R	possibly damaging	Het
Rnf213	T	A	11: 119,436,611 (GRCm38)	I1809N	probably damaging	Het
Ryr1	A	G	7: 29,062,191 (GRCm38)	L3177P	probably damaging	Het
Scyl2	C	A	10: 89,650,956 (GRCm38)	R230L	probably damaging	Het
Sfxn2	T	C	19: 46,582,476 (GRCm38)		probably benign	Het
Slc18b1	T	C	10: 23,798,741 (GRCm38)		probably benign	Het
Spata31d1d	T	C	13: 59,728,191 (GRCm38)	H510R	probably benign	Het
Stab1	A	T	14: 31,150,823 (GRCm38)	N1109K	probably damaging	Het
Sult3a2	A	G	10: 33,781,977 (GRCm38)	S47P	probably damaging	Het
Tenm3	T	C	8: 48,228,993 (GRCm38)	N2518S	possibly damaging	Het
Tex21	G	T	12: 76,206,891 (GRCm38)	P416Q	probably benign	Het
Tex38	T	C	4: 115,780,306 (GRCm38)	N100S	probably benign	Het
Thsd4	A	C	9: 60,394,553 (GRCm38)		probably benign	Het
Ticrr	T	C	7: 79,681,824 (GRCm38)	V723A	probably damaging	Het
Tmprss15	A	G	16: 79,090,829 (GRCm38)	V30A	probably benign	Het
Uba3	A	G	6: 97,185,337 (GRCm38)		probably benign	Het
Ubr1	T	C	2: 120,935,319 (GRCm38)		probably benign	Het
Vmn2r112	A	T	17: 22,603,144 (GRCm38)	T268S	possibly damaging	Het
Wfdc3	T	C	2: 164,744,194 (GRCm38)		probably benign	Het
Zfp282	T	A	6: 47,892,867 (GRCm38)	L282Q	probably damaging	Het
Zfp422	A	T	6: 116,626,784 (GRCm38)	C85S	probably damaging	Het
Zfp790	A	T	7: 29,828,139 (GRCm38)	Q83L	probably benign	Het

Other mutations in Uchl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Uchl4	APN	9	64,235,716 (GRCm38)	missense	possibly damaging	0.82
IGL01710:Uchl4	APN	9	64,235,506 (GRCm38)	missense	probably benign	0.20
IGL02030:Uchl4	APN	9	64,235,629 (GRCm38)	missense	probably benign
IGL02739:Uchl4	APN	9	64,235,537 (GRCm38)	missense	probably damaging	1.00
R0026:Uchl4	UTSW	9	64,235,371 (GRCm38)	splice site	probably null
R0026:Uchl4	UTSW	9	64,235,371 (GRCm38)	splice site	probably null
R1801:Uchl4	UTSW	9	64,235,475 (GRCm38)	missense	probably benign
R2113:Uchl4	UTSW	9	64,235,536 (GRCm38)	missense	probably damaging	1.00
R4042:Uchl4	UTSW	9	64,235,557 (GRCm38)	missense	probably benign	0.00
R4500:Uchl4	UTSW	9	64,235,881 (GRCm38)	missense	possibly damaging	0.96
R4625:Uchl4	UTSW	9	64,235,798 (GRCm38)	missense	probably damaging	1.00
R5176:Uchl4	UTSW	9	64,235,740 (GRCm38)	nonsense	probably null
R5364:Uchl4	UTSW	9	64,235,539 (GRCm38)	missense	possibly damaging	0.88
R6581:Uchl4	UTSW	9	64,235,793 (GRCm38)	missense	possibly damaging	0.93
R7134:Uchl4	UTSW	9	64,235,339 (GRCm38)	missense	probably damaging	1.00
R7451:Uchl4	UTSW	9	64,235,731 (GRCm38)	missense	probably benign
R8268:Uchl4	UTSW	9	64,235,509 (GRCm38)	missense	probably damaging	1.00
R8804:Uchl4	UTSW	9	64,235,324 (GRCm38)	missense	probably damaging	1.00
R9177:Uchl4	UTSW	9	64,235,704 (GRCm38)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- TGTGGAACGATTGGAACGATTGGAC -3'
(R):5'- CAAGATGCTATGCTGCCGAGAGAG -3'

Sequencing Primer
(F):5'- GATTGGACTAATCCATGCCATTGC -3'
(R):5'- AATCTTAACTCATCAGGGTCACG -3'

Posted On

2014-04-13