Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02510:Zufsp'

296522

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zufsp

Ensembl Gene

ENSMUSG00000039531

Gene Name

zinc finger with UFM1-specific peptidase domain

Synonyms

2700019D07Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

33919142-33951269 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 33930154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151662 (fasta)

Gene Model

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

AlphaFold

Q3T9Z9

Predicted Effect

probably null
Transcript: ENSMUST00000048222

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531

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: ENSMUST00000048222

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531

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: ENSMUST00000048222

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531

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

Predicted Effect

probably null
Transcript: ENSMUST00000218055

Predicted Effect

probably null
Transcript: ENSMUST00000218055

Predicted Effect

probably benign
Transcript: ENSMUST00000218275

Predicted Effect

probably null
Transcript: ENSMUST00000218880

Predicted Effect

probably null
Transcript: ENSMUST00000218880

Predicted Effect

probably null
Transcript: ENSMUST00000218880

Predicted Effect

probably benign
Transcript: ENSMUST00000219457

Predicted Effect

probably benign
Transcript: ENSMUST00000219878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219935

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,251,390	S193N	probably benign	Het
Arrdc1	C	A	2: 24,935,100	V16F	probably damaging	Het
Bsx	A	T	9: 40,874,221	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704	T253A	probably benign	Het
Cdkl3	T	C	11: 52,011,270	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,725,357	N237K	probably benign	Het
Cldn14	T	A	16: 93,919,956	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398	R171C	unknown	Het
Col7a1	C	A	9: 108,973,231		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,236,075	V64M	probably damaging	Het
Disp3	G	A	4: 148,252,701	H886Y	probably benign	Het
Dst	G	A	1: 34,229,251		probably null	Het
Fnbp4	T	C	2: 90,751,475	V215A	probably benign	Het
Fzd9	A	G	5: 135,249,615	L472P	probably damaging	Het
Gm5096	A	G	18: 87,757,529	Q392R	probably benign	Het
Hpd	C	T	5: 123,181,910	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,051,611	V412A	probably damaging	Het
Ift80	A	G	3: 68,898,543	F722S	probably benign	Het
Kcnq2	T	C	2: 181,081,361	T741A	probably benign	Het
Kl	A	C	5: 150,989,001	E738D	probably damaging	Het
Klra4	T	A	6: 130,059,543	I178L	probably damaging	Het
Klra9	T	C	6: 130,191,222	E27G	probably benign	Het
Kntc1	T	C	5: 123,819,062	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,257,029	M417K	probably benign	Het
Med31	C	T	11: 72,212,056	M75I	probably benign	Het
Mpeg1	A	T	19: 12,461,424	D82V	probably damaging	Het
Msto1	A	G	3: 88,910,345	Y439H	probably damaging	Het
Olfr23	G	A	11: 73,941,005	G253E	probably damaging	Het
Olfr332	T	C	11: 58,490,539	Y72C	probably damaging	Het
Olfr344	T	C	2: 36,568,681	S28P	possibly damaging	Het
Olfr488	T	A	7: 108,256,141		probably benign	Het
Prtg	G	A	9: 72,890,869	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,588,272	A186S	probably benign	Het
Slc12a5	A	T	2: 164,982,808		probably benign	Het
Slc7a3	T	C	X: 101,082,833	E222G	probably benign	Het
Stox1	A	T	10: 62,664,047	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,766,439	N289K	probably benign	Het
Supt20	A	G	3: 54,715,524		probably benign	Het
Tchh	A	G	3: 93,444,078	E275G	unknown	Het
Tectb	A	T	19: 55,191,511	N263I	probably damaging	Het
Tsga10	C	T	1: 37,760,985	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,629,464	Y390H	probably damaging	Het
Utf1	C	A	7: 139,944,016	S48*	probably null	Het
Zfp358	G	A	8: 3,496,786	G456D	probably benign	Het

Other mutations in Zufsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8943:Zufsp	UTSW	10	33919305	makesense	probably null
R9433:Zufsp	UTSW	10	33919359	missense	probably damaging	1.00
X0063:Zufsp	UTSW	10	33943687	missense	probably damaging	1.00

Posted On

2015-04-16