Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Zup1'

460103

Institutional Source

Beutler Lab

Gene Symbol

Zup1

Ensembl Gene

ENSMUSG00000039531

Gene Name

zinc finger containing ubiquitin peptidase 1

Synonyms

2700019D07Rik, Zufsp

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R5929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33795138-33827265 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 33825043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 146 (Y146*)

Ref Sequence

ENSEMBL: ENSMUSP00000151477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048222] [ENSMUST00000218055] [ENSMUST00000218222] [ENSMUST00000218275] [ENSMUST00000218880] [ENSMUST00000218892] [ENSMUST00000219457] [ENSMUST00000219878]

AlphaFold

Q3T9Z9

Predicted Effect

probably null
Transcript: ENSMUST00000048222
AA Change: Y146*

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: Y146*

Domain	Start	End	E-Value	Type
ZnF_C2H2	2	24	5.42e-2	SMART
ZnF_C2H2	29	52	1.13e1	SMART
ZnF_C2H2	153	176	2.47e1	SMART
ZnF_C2H2	192	214	6.23e-2	SMART
coiled coil region	236	267	N/A	INTRINSIC
Pfam:Peptidase_C78	334	550	1.2e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000218055
AA Change: Y146*

Predicted Effect

probably benign
Transcript: ENSMUST00000218222

Predicted Effect

probably null
Transcript: ENSMUST00000218275
AA Change: Y146*

Predicted Effect

probably null
Transcript: ENSMUST00000218880
AA Change: Y146*

Predicted Effect

probably benign
Transcript: ENSMUST00000218892

Predicted Effect

probably null
Transcript: ENSMUST00000219457
AA Change: Y146*

Predicted Effect

probably null
Transcript: ENSMUST00000219878
AA Change: Y146*

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gabra6	T	A	11: 42,208,389 (GRCm39)	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif12	T	C	4: 63,086,754 (GRCm39)	T361A	probably damaging	Het
Kif21b	A	G	1: 136,078,945 (GRCm39)	E431G	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Kifbp	A	T	10: 62,395,181 (GRCm39)	I487N	probably damaging	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Odad3	T	C	9: 21,913,718 (GRCm39)	E18G	possibly damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Slc35b2	G	T	17: 45,877,587 (GRCm39)	W238L	probably benign	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het

Other mutations in Zup1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02510:Zup1	APN	10	33,806,150 (GRCm39)	critical splice donor site	probably null
IGL02586:Zup1	APN	10	33,811,261 (GRCm39)	intron	probably benign
IGL03350:Zup1	APN	10	33,804,107 (GRCm39)	missense	probably benign	0.04
R0145:Zup1	UTSW	10	33,819,709 (GRCm39)	missense	probably damaging	0.96
R1156:Zup1	UTSW	10	33,825,222 (GRCm39)	missense	probably benign	0.15
R1523:Zup1	UTSW	10	33,803,436 (GRCm39)	missense	probably damaging	1.00
R1769:Zup1	UTSW	10	33,811,172 (GRCm39)	missense	probably damaging	1.00
R1802:Zup1	UTSW	10	33,819,714 (GRCm39)	missense	probably damaging	0.98
R2013:Zup1	UTSW	10	33,805,820 (GRCm39)	missense	possibly damaging	0.75
R2014:Zup1	UTSW	10	33,805,820 (GRCm39)	missense	possibly damaging	0.75
R2015:Zup1	UTSW	10	33,805,820 (GRCm39)	missense	possibly damaging	0.75
R2017:Zup1	UTSW	10	33,803,460 (GRCm39)	missense	possibly damaging	0.46
R2342:Zup1	UTSW	10	33,804,113 (GRCm39)	missense	probably damaging	1.00
R2901:Zup1	UTSW	10	33,804,059 (GRCm39)	missense	probably benign
R2901:Zup1	UTSW	10	33,803,608 (GRCm39)	missense	probably damaging	1.00
R3813:Zup1	UTSW	10	33,816,218 (GRCm39)	missense	possibly damaging	0.63
R4488:Zup1	UTSW	10	33,824,960 (GRCm39)	missense	probably damaging	1.00
R4674:Zup1	UTSW	10	33,824,980 (GRCm39)	missense	possibly damaging	0.92
R4883:Zup1	UTSW	10	33,825,038 (GRCm39)	missense	probably damaging	0.98
R4926:Zup1	UTSW	10	33,825,434 (GRCm39)	missense	probably damaging	1.00
R5163:Zup1	UTSW	10	33,825,439 (GRCm39)	missense	probably damaging	1.00
R5373:Zup1	UTSW	10	33,803,462 (GRCm39)	missense	possibly damaging	0.46
R5374:Zup1	UTSW	10	33,803,462 (GRCm39)	missense	possibly damaging	0.46
R5924:Zup1	UTSW	10	33,803,543 (GRCm39)	missense	probably damaging	0.96
R5941:Zup1	UTSW	10	33,825,458 (GRCm39)	missense	probably damaging	1.00
R6337:Zup1	UTSW	10	33,825,252 (GRCm39)	missense	probably benign	0.00
R6663:Zup1	UTSW	10	33,825,431 (GRCm39)	missense	possibly damaging	0.86
R6753:Zup1	UTSW	10	33,804,025 (GRCm39)	missense	probably damaging	1.00
R7690:Zup1	UTSW	10	33,806,151 (GRCm39)	critical splice donor site	probably null
R7772:Zup1	UTSW	10	33,797,698 (GRCm39)	splice site	probably null
R7836:Zup1	UTSW	10	33,795,315 (GRCm39)	missense	unknown
R7919:Zup1	UTSW	10	33,825,108 (GRCm39)	missense	possibly damaging	0.92
R8054:Zup1	UTSW	10	33,816,248 (GRCm39)	missense	probably damaging	1.00
R8943:Zup1	UTSW	10	33,795,301 (GRCm39)	makesense	probably null
R9433:Zup1	UTSW	10	33,795,355 (GRCm39)	missense	probably damaging	1.00
X0063:Zup1	UTSW	10	33,819,683 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGCAATTGACAAGCCAACTC -3'
(R):5'- TACAGCGGAAGTTACTTCAGG -3'

Sequencing Primer
(F):5'- AGACTGGCATGCTTTGT -3'
(R):5'- CAGCGGAAGTTACTTCAGGCATTC -3'

Posted On

2017-02-28