Mutagenetix > Incidental Mutation

Incidental Mutation 'R5924:Zup1'

461737

Institutional Source

Beutler Lab

Gene Symbol

Zup1

Ensembl Gene

ENSMUSG00000039531

Gene Name

zinc finger containing ubiquitin peptidase 1

Synonyms

2700019D07Rik, Zufsp

MMRRC Submission

044119-MU

Accession Numbers

Essential gene?

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

Stock #

R5924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33795138-33827265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33803543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 514 (C514S)

Ref Sequence

ENSEMBL: ENSMUSP00000151662 (fasta)

Gene Model

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

AlphaFold

Q3T9Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000048222
AA Change: C514S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: C514S

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 benign
Transcript: ENSMUST00000218055
AA Change: C514S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000218275

Predicted Effect

probably damaging
Transcript: ENSMUST00000218880
AA Change: C514S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000219457

Predicted Effect

probably benign
Transcript: ENSMUST00000219878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219935

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,706,085 (GRCm39)	Y76C	probably damaging	Het
Agbl1	C	T	7: 76,058,982 (GRCm39)	T204I	probably benign	Het
Apc2	A	T	10: 80,147,984 (GRCm39)	I984F	probably damaging	Het
Art3	A	T	5: 92,560,091 (GRCm39)		probably benign	Het
B4galnt4	A	G	7: 140,650,742 (GRCm39)	M839V	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cdhr2	A	C	13: 54,874,496 (GRCm39)	D856A	probably benign	Het
Cep78	A	T	19: 15,938,430 (GRCm39)	L506Q	probably damaging	Het
Col6a1	A	G	10: 76,554,205 (GRCm39)		probably null	Het
Cyp3a44	A	T	5: 145,731,137 (GRCm39)	F221Y	possibly damaging	Het
Dcakd	C	A	11: 102,890,646 (GRCm39)	R47L	probably benign	Het
Ddr2	A	G	1: 169,822,197 (GRCm39)	V417A	probably benign	Het
Dnah5	A	T	15: 28,307,473 (GRCm39)	T1734S	probably benign	Het
Eefsec	A	T	6: 88,332,529 (GRCm39)	M227K	probably damaging	Het
Eif4g3	T	G	4: 137,929,237 (GRCm39)	N1628K	probably damaging	Het
Epha5	A	T	5: 84,381,533 (GRCm39)	Y439*	probably null	Het
Esrp1	G	T	4: 11,361,174 (GRCm39)	T324K	probably damaging	Het
Flnb	T	A	14: 7,890,765 (GRCm38)	M549K	probably benign	Het
Fndc1	T	A	17: 7,992,442 (GRCm39)	Q418L	unknown	Het
Ggnbp2	A	G	11: 84,749,363 (GRCm39)	S144P	possibly damaging	Het
Gk5	T	C	9: 96,032,563 (GRCm39)		probably null	Het
Gpr137	A	G	19: 6,916,729 (GRCm39)	L228P	probably damaging	Het
Gpt2	C	A	8: 86,219,633 (GRCm39)	S26R	probably damaging	Het
Hras	C	T	7: 140,772,374 (GRCm39)	E91K	possibly damaging	Het
Ighv1-36	G	A	12: 114,843,777 (GRCm39)	P28S	possibly damaging	Het
Kalrn	G	A	16: 34,064,203 (GRCm39)	T807M	probably damaging	Het
Lifr	A	G	15: 7,202,453 (GRCm39)	T365A	probably benign	Het
Lpin1	A	T	12: 16,594,658 (GRCm39)	S795T	possibly damaging	Het
Magi2	A	C	5: 20,816,067 (GRCm39)	M1128L	probably benign	Het
Magi3	A	T	3: 103,961,854 (GRCm39)		probably null	Het
Mier1	T	A	4: 103,016,899 (GRCm39)	L380*	probably null	Het
Mtmr14	A	G	6: 113,230,750 (GRCm39)	Y118C	probably damaging	Het
Myof	A	T	19: 37,971,421 (GRCm39)	M277K	probably damaging	Het
Nlrp6	T	C	7: 140,503,403 (GRCm39)	V473A	probably damaging	Het
Nsfl1c	T	A	2: 151,347,320 (GRCm39)	N164K	probably benign	Het
Olfm3	A	T	3: 114,916,187 (GRCm39)	Q353L	probably benign	Het
Opn5	A	T	17: 42,922,199 (GRCm39)	M1K	probably null	Het
Or2y3	A	G	17: 38,393,254 (GRCm39)	V205A	probably benign	Het
Or4k15	A	G	14: 50,364,139 (GRCm39)	Y35C	probably damaging	Het
Or5d41	T	C	2: 88,054,891 (GRCm39)	I162V	probably benign	Het
Pax8	A	G	2: 24,311,634 (GRCm39)	S434P	probably damaging	Het
Pigo	G	A	4: 43,023,389 (GRCm39)	Q256*	probably null	Het
Pik3ap1	A	C	19: 41,284,895 (GRCm39)	F597V	probably damaging	Het
Pkd2	A	G	5: 104,646,424 (GRCm39)	K744E	probably damaging	Het
Prom1	T	C	5: 44,162,305 (GRCm39)	T729A	probably benign	Het
Rasal1	T	C	5: 120,813,582 (GRCm39)	L652P	probably damaging	Het
Sebox	T	C	11: 78,395,017 (GRCm39)		probably null	Het
Setd2	A	T	9: 110,403,112 (GRCm39)	I1918F	probably benign	Het
Slc24a2	A	T	4: 86,929,825 (GRCm39)		probably null	Het
Slc28a1	G	T	7: 80,765,360 (GRCm39)	G25V	probably benign	Het
Slc51a	A	G	16: 32,295,990 (GRCm39)	F259L	possibly damaging	Het
Slco2a1	T	A	9: 102,923,898 (GRCm39)	C37*	probably null	Het
Speer4f2	A	G	5: 17,581,622 (GRCm39)	D188G	probably damaging	Het
Stim2	A	G	5: 54,259,985 (GRCm39)	K156E	probably benign	Het
Strn4	T	C	7: 16,572,246 (GRCm39)	I653T	probably damaging	Het
Tacr3	G	T	3: 134,638,060 (GRCm39)	D406Y	possibly damaging	Het
Utp20	G	A	10: 88,651,784 (GRCm39)	R400C	probably benign	Het
V1rd19	C	T	7: 23,703,374 (GRCm39)	S280L	probably benign	Het
Vmn2r4	C	T	3: 64,296,685 (GRCm39)	C700Y	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
R5929:Zup1	UTSW	10	33,825,043 (GRCm39)	nonsense	probably null
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'- TGAGTTAAACAACTGAAAGGCC -3'
(R):5'- ATGTATACGTGCATGCATGTG -3'

Sequencing Primer
(F):5'- GTTAAACAACTGAAAGGCCATCTAAC -3'
(R):5'- CATGCATGTGTGTGTGTGTTAAAC -3'

Posted On

2017-02-28