Mutagenetix > Incidental Mutation

Incidental Mutation 'R4883:Zufsp'

375427

Institutional Source

Beutler Lab

Gene Symbol

Zufsp

Ensembl Gene

ENSMUSG00000039531

Gene Name

zinc finger with UFM1-specific peptidase domain

Synonyms

2700019D07Rik

MMRRC Submission

042491-MU

Accession Numbers

Essential gene?

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

Stock #

R4883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33919142-33951269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33949042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 148 (T148K)

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

possibly damaging
Transcript: ENSMUST00000048222
AA Change: T148K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: T148K

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

possibly damaging
Transcript: ENSMUST00000218055
AA Change: T148K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000218222

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218275
AA Change: T148K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218880
AA Change: T148K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000218892

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219457
AA Change: T148K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219878
AA Change: T148K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,245,103	N52I	probably damaging	Het
Abca5	T	C	11: 110,326,631	D133G	probably damaging	Het
Abcg4	G	T	9: 44,279,319	H55Q	probably damaging	Het
Acaca	T	A	11: 84,251,290	V641E	probably benign	Het
Adam28	T	C	14: 68,638,103	I229V	probably damaging	Het
Adgrl3	T	A	5: 81,689,646	I793N	probably damaging	Het
Akr1d1	A	T	6: 37,558,401	D240V	possibly damaging	Het
Arhgef25	T	C	10: 127,182,933	D548G	probably benign	Het
Asl	A	G	5: 130,013,961		probably null	Het
Atg14	C	T	14: 47,551,314	R194Q	probably damaging	Het
BC004004	T	A	17: 29,282,192	F38L	probably damaging	Het
Btg1	T	C	10: 96,617,397	F25L	probably benign	Het
Btrc	C	T	19: 45,456,587	P35S	probably benign	Het
Calcr	T	A	6: 3,714,705	N142Y	probably damaging	Het
Ccdc138	A	G	10: 58,561,996	I553V	probably benign	Het
Cdc42	T	A	4: 137,328,804	N132I	probably benign	Het
Ces1e	A	G	8: 93,224,088	S22P	probably benign	Het
Clmn	G	T	12: 104,782,048	D413E	probably benign	Het
Cramp1l	T	C	17: 24,982,319	T730A	probably benign	Het
Dnah5	A	T	15: 28,343,638	M2395L	probably benign	Het
Ephx1	G	T	1: 181,001,923	S20Y	possibly damaging	Het
Exoc5	T	G	14: 49,052,364	E19A	probably damaging	Het
Fam120b	T	C	17: 15,403,032	L424P	probably benign	Het
Fam89a	G	A	8: 124,741,084	T163I	possibly damaging	Het
Fcrls	G	A	3: 87,259,615	L24F	possibly damaging	Het
Fgd6	G	T	10: 94,139,853	V1377L	probably benign	Het
Glud1	T	A	14: 34,335,390	I337K	possibly damaging	Het
Gm6370	T	A	5: 146,493,926	I303N	probably benign	Het
Gm7995	T	C	14: 42,311,426	Y88H	probably damaging	Het
Gsdma3	T	C	11: 98,629,567		probably null	Het
Gsdmc2	T	C	15: 63,835,765	D60G	probably damaging	Het
Hcn1	T	A	13: 117,902,895		probably null	Het
Hectd1	A	T	12: 51,784,247	C936*	probably null	Het
Herc4	T	A	10: 63,285,654	S358T	probably benign	Het
Hk3	A	G	13: 55,010,922	C515R	probably benign	Het
Ighg1	A	G	12: 113,327,518		probably benign	Het
Iqgap3	T	A	3: 88,107,535	C853S	probably benign	Het
Irx4	G	A	13: 73,267,631	A180T	probably damaging	Het
Kif20b	A	G	19: 34,966,122	T1441A	probably benign	Het
Lifr	A	G	15: 7,185,625	K738E	possibly damaging	Het
Lmntd2	A	T	7: 141,212,618	S218T	probably damaging	Het
Lnx1	A	T	5: 74,607,869	W353R	probably benign	Het
Lrfn3	G	T	7: 30,355,813	P569Q	possibly damaging	Het
Mamstr	A	G	7: 45,644,414	I11V	probably benign	Het
Med31	T	C	11: 72,214,149	N32S	possibly damaging	Het
Mob3c	A	T	4: 115,833,731	I173F	probably benign	Het
Morc3	A	G	16: 93,870,362		probably null	Het
Mphosph9	T	C	5: 124,299,045	K412R	probably damaging	Het
Mthfd1l	C	T	10: 4,007,775	P271S	probably benign	Het
Ncam1	C	T	9: 49,541,883		probably null	Het
Ncbp3	T	A	11: 73,069,752	Y279N	probably damaging	Het
Ncoa6	G	A	2: 155,406,767	T1539I	probably benign	Het
Nedd4	G	A	9: 72,740,233		probably null	Het
Neil1	A	G	9: 57,146,922	V38A	probably damaging	Het
Ngf	T	A	3: 102,520,645	F237I	probably damaging	Het
Nol3	A	G	8: 105,279,256	Q94R	possibly damaging	Het
Obox1	A	G	7: 15,556,338	N202S	probably damaging	Het
Odc1	T	A	12: 17,547,385	N29K	possibly damaging	Het
Olfr1241	C	T	2: 89,482,308	V276I	probably benign	Het
Olfr132	T	C	17: 38,130,617	T192A	probably damaging	Het
Olfr1535	C	T	13: 21,555,488	R178H	probably benign	Het
Olfr243	A	C	7: 103,716,707	I38L	probably benign	Het
P2rx7	T	A	5: 122,681,066	V517E	probably damaging	Het
Parm1	A	G	5: 91,593,916	T48A	possibly damaging	Het
Pcdh9	T	A	14: 93,888,728	D2V	possibly damaging	Het
Pgm3	G	T	9: 86,569,325	T92N	probably damaging	Het
Plcg2	G	T	8: 117,607,133	G882*	probably null	Het
Ptpn14	C	T	1: 189,850,800	P615S	probably damaging	Het
Ptprk	A	T	10: 28,588,932	Y1244F	probably damaging	Het
Rere	G	A	4: 150,616,053	A1162T	probably damaging	Het
Rfx2	T	C	17: 56,783,747	E391G	probably damaging	Het
Sema4c	A	G	1: 36,552,016	V414A	probably damaging	Het
Serpinb10	A	T	1: 107,540,951	N185I	probably damaging	Het
Shroom3	T	G	5: 92,951,134	M1410R	probably benign	Het
Slc13a1	A	T	6: 24,134,357	S176T	probably benign	Het
Sntb1	A	T	15: 55,642,802	Y458*	probably null	Het
Soga3	A	T	10: 29,196,541	N610Y	probably damaging	Het
Sorcs1	C	T	19: 50,232,303	V570I	probably benign	Het
Sp8	T	A	12: 118,849,070	V220E	probably damaging	Het
Spry1	C	T	3: 37,642,719	T37M	possibly damaging	Het
Sspo	A	T	6: 48,460,822	H1305L	probably benign	Het
Tbc1d22a	A	G	15: 86,496,916	D509G	possibly damaging	Het
Tmem108	A	T	9: 103,499,077	V391D	possibly damaging	Het
Tmem132d	T	A	5: 128,269,300	I53F	probably damaging	Het
Tmem132d	T	A	5: 128,269,302	H52L	possibly damaging	Het
Tnnt2	A	T	1: 135,847,758	R87*	probably null	Het
Ube3a	A	T	7: 59,243,450	M1L	probably benign	Het
Unc79	A	G	12: 103,094,333	T1119A	probably damaging	Het
Usf3	A	T	16: 44,219,579	H1474L	probably damaging	Het
Vcpip1	G	A	1: 9,747,198	T320I	probably damaging	Het
Vmn1r56	A	G	7: 5,196,444	L58P	probably damaging	Het
Wdr53	A	T	16: 32,256,978	K334*	probably null	Het
Zbtb40	T	A	4: 137,000,930	R459W	probably benign	Het
Zfc3h1	T	A	10: 115,410,642	L878Q	probably damaging	Het
Zfp286	T	C	11: 62,780,629	D206G	probably benign	Het
Zfp46	T	A	4: 136,290,481	C209S	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGTAGCAATTGACAAGCCAAC -3'
(R):5'- ACAGCGGAAGTTACTTCAGGC -3'

Sequencing Primer
(F):5'- GTAGCAATTGACAAGCCAACTCATTG -3'
(R):5'- GCGGAAGTTACTTCAGGCATTCATTC -3'

Posted On

2016-03-17