Mutagenetix > Incidental Mutation

Incidental Mutation 'R8943:Zufsp'

681106

Institutional Source

Beutler Lab

Gene Symbol

Zufsp

Ensembl Gene

ENSMUSG00000039531

Gene Name

zinc finger with UFM1-specific peptidase domain

Synonyms

2700019D07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33919142-33951269 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 33919305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 552 (*552Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169670] [ENSMUST00000218055] [ENSMUST00000218275] [ENSMUST00000218880]

AlphaFold

Q3T9Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000169670

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
Pfam:Radial_spoke	209	695	2.7e-205	PFAM
low complexity region	702	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218055

Predicted Effect

probably benign
Transcript: ENSMUST00000218275

Predicted Effect

probably null
Transcript: ENSMUST00000218880
AA Change: *552Q

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,626,243	S457P	probably damaging	Het
Aak1	A	G	6: 86,987,252	N945S	unknown	Het
Actr1a	C	A	19: 46,380,999	R192L	possibly damaging	Het
Adgrl2	T	A	3: 148,828,483	N1036I	probably damaging	Het
Ak5	A	G	3: 152,655,874	V137A	probably damaging	Het
Aldh1a2	T	C	9: 71,261,773	V179A	probably damaging	Het
Ap2b1	A	T	11: 83,346,753	I548F	probably damaging	Het
Arhgef10l	A	G	4: 140,565,239	Y352H	probably damaging	Het
Atad5	C	T	11: 80,095,698	T537M	possibly damaging	Het
Atoh7	A	G	10: 63,100,159	K2E	possibly damaging	Het
BC061237	A	G	14: 44,504,201	I134V	probably benign	Het
Cadm1	T	C	9: 47,789,838	I141T	probably damaging	Het
Capn10	T	C	1: 92,943,732	S351P	probably damaging	Het
Cct6b	T	C	11: 82,764,133		probably benign	Het
Cd19	T	C	7: 126,412,158	T284A	probably benign	Het
Cfap53	A	G	18: 74,299,182	Y47C	probably damaging	Het
Cldn18	T	C	9: 99,696,109	M194V	probably benign	Het
Dgkb	T	A	12: 38,602,778	Y721N	probably damaging	Het
Dmbt1	A	G	7: 131,119,643	Q1880R	possibly damaging	Het
Dock2	T	C	11: 34,708,819	N311S	possibly damaging	Het
Dpysl5	G	T	5: 30,778,031	M159I	probably benign	Het
Eif2b3	G	A	4: 117,044,581	G147E	probably damaging	Het
Fam193a	A	G	5: 34,440,452	D531G	probably benign	Het
Fndc3b	T	C	3: 27,501,180		probably benign	Het
Foxe3	C	A	4: 114,925,326	A230S	unknown	Het
Gm14548	T	C	7: 3,895,366	E319G	probably benign	Het
Gm5591	A	T	7: 38,520,303	V382E	probably benign	Het
Gm7995	A	T	14: 42,310,271	N21I	probably damaging	Het
Ipo8	G	A	6: 148,775,049	P981S	probably benign	Het
Kcnh8	A	G	17: 52,797,458	D161G	probably benign	Het
Krt71	A	G	15: 101,736,745	I377T	possibly damaging	Het
Krt75	A	T	15: 101,568,332	M374K	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lpcat1	A	G	13: 73,513,910	T409A	probably benign	Het
Lrch1	A	T	14: 74,795,368	I514K	probably benign	Het
Mc4r	A	C	18: 66,860,039	M1R	probably null	Het
Mthfd1l	A	T	10: 4,028,466	H442L	probably damaging	Het
Olfr1166	T	A	2: 88,124,374	I204F	probably damaging	Het
Pdcd1lg2	T	C	19: 29,446,153	M199T	probably benign	Het
Pigg	G	A	5: 108,336,200	V438M	probably damaging	Het
Ppfibp1	T	A	6: 147,019,183		probably null	Het
Rbm15	T	A	3: 107,332,056	Y342F	possibly damaging	Het
Rhbdl1	A	T	17: 25,835,142	V278E	probably damaging	Het
Ryr3	T	C	2: 112,635,324	N4781S	probably damaging	Het
Scn7a	A	T	2: 66,694,862		silent	Het
Sfswap	A	G	5: 129,504,104	R114G	probably damaging	Het
Sohlh2	C	A	3: 55,196,861	A258D	possibly damaging	Het
Sstr4	T	A	2: 148,395,862	V131D	possibly damaging	Het
Tenm2	T	C	11: 36,944,034	T45A	probably damaging	Het
Tmem131l	A	T	3: 83,924,172	F818I	probably damaging	Het
Trappc6b	A	G	12: 59,050,363	F58L	probably damaging	Het
Vmn1r229	A	T	17: 20,815,156	H221L	possibly damaging	Het
Vmn1r33	T	A	6: 66,611,799	Y257F	probably damaging	Het
Wdfy3	T	C	5: 101,845,365		probably benign	Het
Zfp446	C	T	7: 12,979,637	Q177*	probably null	Het

Other mutations in Zufsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02510:Zufsp	APN	10	33930154	critical splice donor site	probably null
IGL02586:Zufsp	APN	10	33935265	intron	probably benign
IGL03350:Zufsp	APN	10	33928111	missense	probably benign	0.04
R0145:Zufsp	UTSW	10	33943713	missense	probably damaging	0.96
R1156:Zufsp	UTSW	10	33949226	missense	probably benign	0.15
R1523:Zufsp	UTSW	10	33927440	missense	probably damaging	1.00
R1769:Zufsp	UTSW	10	33935176	missense	probably damaging	1.00
R1802:Zufsp	UTSW	10	33943718	missense	probably damaging	0.98
R2013:Zufsp	UTSW	10	33929824	missense	possibly damaging	0.75
R2014:Zufsp	UTSW	10	33929824	missense	possibly damaging	0.75
R2015:Zufsp	UTSW	10	33929824	missense	possibly damaging	0.75
R2017:Zufsp	UTSW	10	33927464	missense	possibly damaging	0.46
R2342:Zufsp	UTSW	10	33928117	missense	probably damaging	1.00
R2901:Zufsp	UTSW	10	33927612	missense	probably damaging	1.00
R2901:Zufsp	UTSW	10	33928063	missense	probably benign
R3813:Zufsp	UTSW	10	33940222	missense	possibly damaging	0.63
R4488:Zufsp	UTSW	10	33948964	missense	probably damaging	1.00
R4674:Zufsp	UTSW	10	33948984	missense	possibly damaging	0.92
R4883:Zufsp	UTSW	10	33949042	missense	probably damaging	0.98
R4926:Zufsp	UTSW	10	33949438	missense	probably damaging	1.00
R5163:Zufsp	UTSW	10	33949443	missense	probably damaging	1.00
R5373:Zufsp	UTSW	10	33927466	missense	possibly damaging	0.46
R5374:Zufsp	UTSW	10	33927466	missense	possibly damaging	0.46
R5924:Zufsp	UTSW	10	33927547	missense	probably damaging	0.96
R5929:Zufsp	UTSW	10	33949047	nonsense	probably null
R5941:Zufsp	UTSW	10	33949462	missense	probably damaging	1.00
R6337:Zufsp	UTSW	10	33949256	missense	probably benign	0.00
R6663:Zufsp	UTSW	10	33949435	missense	possibly damaging	0.86
R6753:Zufsp	UTSW	10	33928029	missense	probably damaging	1.00
R7690:Zufsp	UTSW	10	33930155	critical splice donor site	probably null
R7772:Zufsp	UTSW	10	33921702	splice site	probably null
R7836:Zufsp	UTSW	10	33919319	missense	unknown
R7919:Zufsp	UTSW	10	33949112	missense	possibly damaging	0.92
R8054:Zufsp	UTSW	10	33940252	missense	probably damaging	1.00
R9433:Zufsp	UTSW	10	33919359	missense	probably damaging	1.00
X0063:Zufsp	UTSW	10	33943687	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTCTGAGACATAGACAAGAAACC -3'
(R):5'- ACCTGTCTAGATGTGTAAGCAC -3'

Sequencing Primer
(F):5'- TGAGACATAGACAAGAAACCAAAAC -3'
(R):5'- TTGACAAGATGGCTCAGCAGTC -3'

Posted On

2021-08-31