Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:Zufsp'

167648

Institutional Source

Beutler Lab

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 #

R1523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33919142-33951269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33927440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 549 (I549M)

Ref Sequence

ENSEMBL: ENSMUSP00000151811 (fasta)

Gene Model

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

AlphaFold

Q3T9Z9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048222
AA Change: I549M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: I549M

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 damaging
Transcript: ENSMUST00000218055
AA Change: I549M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000218275

Predicted Effect

probably benign
Transcript: ENSMUST00000218880

Predicted Effect

probably benign
Transcript: ENSMUST00000219457

Predicted Effect

probably benign
Transcript: ENSMUST00000219878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219935

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,440,406	E48*	probably null	Het
4930503B20Rik	A	G	3: 146,651,109	S15P	probably damaging	Het
4933402E13Rik	T	A	X: 62,290,906	D177E	probably benign	Het
5530400C23Rik	A	G	6: 133,294,293	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,685,694	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,450,153	Q913L	probably benign	Het
Ak7	A	T	12: 105,766,608	N537I	probably benign	Het
Anks1	T	A	17: 28,051,655		probably null	Het
Arhgap32	T	A	9: 32,256,752	V677D	probably damaging	Het
Arnt	C	T	3: 95,489,654	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,594,665	L274R	probably damaging	Het
Atf2	A	T	2: 73,863,208	D3E	probably damaging	Het
Baz2b	C	T	2: 59,968,637	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,442,729		probably null	Het
Ccr10	C	T	11: 101,173,675	R343Q	probably damaging	Het
Clca2	G	T	3: 145,071,644	S822*	probably null	Het
Col12a1	A	T	9: 79,660,996	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,561,916		probably null	Het
Cp	T	C	3: 19,989,065	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,454,980	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,569,754	F170L	probably benign	Het
Dock1	A	C	7: 134,744,247	I173L	possibly damaging	Het
Dock4	A	G	12: 40,693,025	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,322,317	S113T	probably damaging	Het
Epha3	T	C	16: 63,610,948	D530G	probably damaging	Het
Erbb4	T	A	1: 68,396,252	H162L	possibly damaging	Het
Fam131c	C	T	4: 141,382,831	T180I	probably benign	Het
Fndc1	A	G	17: 7,773,209	S552P	unknown	Het
Foxf1	A	G	8: 121,084,558		probably null	Het
Frem2	T	C	3: 53,655,407	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,633,632	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,329,833	V176A	probably damaging	Het
Gemin8	G	A	X: 166,180,648	S100N	probably benign	Het
Gm1527	T	C	3: 28,920,418	I460T	probably damaging	Het
Gm6729	A	G	10: 86,540,175		noncoding transcript	Het
Gprin2	T	C	14: 34,195,079	S245G	probably benign	Het
Gsdmc	A	T	15: 63,803,630	I112N	probably damaging	Het
Hspb6	A	G	7: 30,553,423	D30G	probably benign	Het
Hydin	A	G	8: 110,533,271	D2625G	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Irf2	T	A	8: 46,837,840		probably null	Het
Kdm3b	T	C	18: 34,793,173		probably null	Het
Khdc3	G	A	9: 73,103,491	E208K	possibly damaging	Het
Kifc1	A	T	17: 33,883,662	S263T	probably benign	Het
Lrig3	C	A	10: 126,008,698	T677K	probably damaging	Het
Mapkapk3	A	T	9: 107,263,623		probably null	Het
Mertk	T	C	2: 128,790,328		probably null	Het
Metrn	A	G	17: 25,794,977	*292R	probably null	Het
Mllt6	G	T	11: 97,665,023	A60S	probably damaging	Het
Mmp21	T	C	7: 133,679,045	I65M	probably benign	Het
Myo7b	A	G	18: 31,966,876	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,408,355	S15G	probably benign	Het
Nos1ap	T	C	1: 170,338,118	D192G	probably benign	Het
Nrcam	A	G	12: 44,572,249	T844A	probably damaging	Het
Pax4	A	G	6: 28,444,841	L203P	probably damaging	Het
Pbld2	T	C	10: 63,076,433	I280T	probably benign	Het
Pclo	A	G	5: 14,788,406	Y4681C	unknown	Het
Phyhip	T	A	14: 70,461,760	M1K	probably null	Het
Plppr4	T	C	3: 117,322,841	N456D	probably damaging	Het
Prpf31	T	C	7: 3,640,857	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,092,749	V564D	probably damaging	Het
Rexo1	T	C	10: 80,542,751	S1123G	probably benign	Het
Rnasel	C	A	1: 153,756,013	Q513K	probably damaging	Het
Rnf165	G	A	18: 77,462,938	T98I	probably benign	Het
Rnf213	T	C	11: 119,441,888	V2641A	probably damaging	Het
Rnf40	G	T	7: 127,590,615	R184L	probably damaging	Het
Rnf8	A	G	17: 29,626,972	K179R	probably damaging	Het
Sipa1l2	C	T	8: 125,447,613	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 120,123,703	M307K	possibly damaging	Het
Snx33	T	C	9: 56,926,182	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,817,350	Y249*	probably null	Het
Sult2a4	G	A	7: 13,909,860	Q261*	probably null	Het
Syndig1	G	A	2: 150,003,234	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,624,451	W891*	probably null	Het
Tcf15	C	A	2: 152,143,888	T88K	probably damaging	Het
Tmem19	A	T	10: 115,347,217	M117K	probably damaging	Het
Trim32	T	C	4: 65,614,004	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,053,841	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,870,278	Y491N	probably benign	Het
Wrn	C	T	8: 33,292,716	E486K	probably benign	Het
Zfp457	T	C	13: 67,293,437	E262G	probably damaging	Het
Zfp598	A	G	17: 24,678,629	D308G	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
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

Predicted Primers

PCR Primer
(F):5'- tctgcggcctgTCAACCATATTG -3'
(R):5'- TGCCCTGTTGTCACTTATGCTAAGC -3'

Sequencing Primer
(F):5'- TGAGTTAAACAACTGAAAGGCCATC -3'
(R):5'- TGCATTGAATAGGTCACAGTCG -3'

Posted On

2014-04-13