Mutagenetix > Incidental Mutation

Incidental Mutation 'R2014:Zufsp'

222598

Institutional Source

Beutler Lab

Gene Symbol

Zufsp

Ensembl Gene

ENSMUSG00000039531

Gene Name

zinc finger with UFM1-specific peptidase domain

Synonyms

2700019D07Rik

MMRRC Submission

040023-MU

Accession Numbers

Essential gene?

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

Stock #

R2014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33919142-33951269 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33929824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 437 (V437A)

Ref Sequence

ENSEMBL: ENSMUSP00000151811 (fasta)

Gene Model

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

AlphaFold

Q3T9Z9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048222
AA Change: V437A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: V437A

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: V437A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000218275

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218880
AA Change: V437A

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000219457

Predicted Effect

probably benign
Transcript: ENSMUST00000219878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219935

Meta Mutation Damage Score

0.6313

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (105/109)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	T	A	5: 5,455,964	I106L	probably benign	Het
1700122O11Rik	T	G	17: 48,036,914	T194P	possibly damaging	Het
Acsbg2	T	A	17: 56,853,855	K263M	possibly damaging	Het
Adcy8	C	T	15: 64,767,878	G678S	probably benign	Het
Adgrl2	C	T	3: 148,826,475	G1041R	probably damaging	Het
Ahnak	T	C	19: 9,013,181	I3943T	probably damaging	Het
Aire	T	C	10: 78,042,958	D85G	probably damaging	Het
Alkbh8	C	T	9: 3,343,216	Q36*	probably null	Het
Amer3	T	C	1: 34,579,444		probably benign	Het
Angptl8	T	C	9: 21,837,062		probably null	Het
Ankmy1	T	C	1: 92,885,141	D482G	probably benign	Het
Apc	A	G	18: 34,315,591	I1813V	probably damaging	Het
Asb13	T	G	13: 3,649,512		probably null	Het
Blm	T	C	7: 80,502,399	E600G	probably damaging	Het
Cd163	G	T	6: 124,325,498	W1007L	probably damaging	Het
Cdr1	A	G	X: 61,184,814	F249L	probably benign	Het
Cp	A	G	3: 19,987,434	K44E	probably benign	Het
Crtap	C	A	9: 114,381,585		probably null	Het
Ctsk	A	G	3: 95,506,692	D250G	probably damaging	Het
Dcp2	T	C	18: 44,410,296	V307A	probably benign	Het
Dnah6	T	A	6: 73,173,419	D787V	probably damaging	Het
Dtx3l	G	A	16: 35,936,427	H129Y	probably benign	Het
Ece2	A	G	16: 20,642,317	T442A	probably benign	Het
Espl1	C	T	15: 102,322,714	R17*	probably null	Het
Espn	G	T	4: 152,132,959		probably null	Het
Fam20b	C	T	1: 156,705,941	R35Q	possibly damaging	Het
Fga	A	G	3: 83,032,757	I573V	probably damaging	Het
Fmo5	A	G	3: 97,635,682	K103E	possibly damaging	Het
Frem1	A	T	4: 83,005,852	V291D	probably damaging	Het
Gabbr1	A	G	17: 37,056,782		probably null	Het
Gjb6	T	C	14: 57,124,756	H16R	probably damaging	Het
Gm438	A	T	4: 144,779,725	L132Q	probably damaging	Het
Grina	T	C	15: 76,248,534	V167A	probably damaging	Het
Gulo	T	A	14: 66,009,047	M1L	probably benign	Het
Hcfc2	A	G	10: 82,738,980	N618D	probably benign	Het
Heatr5b	T	C	17: 78,814,184	D704G	probably damaging	Het
Hlcs	A	G	16: 94,262,740	V487A	probably benign	Het
Hps1	G	A	19: 42,762,512	P350S	probably benign	Het
Hspa9	A	T	18: 34,946,648	Y243N	probably damaging	Het
Igll1	A	G	16: 16,863,775	S39P	probably benign	Het
Kif21b	T	C	1: 136,148,282	F270L	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt27	A	G	11: 99,349,492	V200A	probably benign	Het
Lama3	T	C	18: 12,524,721		probably benign	Het
Lmcd1	T	C	6: 112,328,741	W268R	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Mamdc4	T	A	2: 25,563,572	D1195V	probably damaging	Het
Map2	T	C	1: 66,416,136	V1395A	possibly damaging	Het
Map3k20	C	T	2: 72,438,260	T537M	probably benign	Het
Mdga1	A	G	17: 29,849,313	S276P	probably damaging	Het
Mep1a	T	C	17: 43,497,906	N85D	probably benign	Het
Mettl16	A	G	11: 74,817,369	S425G	probably benign	Het
Mthfd1l	A	G	10: 4,047,894	T622A	probably benign	Het
Nbeal2	G	A	9: 110,634,071	L1309F	probably benign	Het
Nde1	A	T	16: 14,169,457		probably benign	Het
Nhsl1	A	T	10: 18,511,592	R205W	probably damaging	Het
Nlrc5	A	G	8: 94,525,510		probably benign	Het
Notch3	C	A	17: 32,158,000	E310D	probably benign	Het
Olfr1180	T	C	2: 88,412,044	T205A	probably benign	Het
Olfr1355	T	C	10: 78,879,388	I72T	possibly damaging	Het
Olfr453	A	G	6: 42,744,850	E271G	probably damaging	Het
Olfr994	T	A	2: 85,430,352	H159L	possibly damaging	Het
Osbpl5	C	A	7: 143,741,692	C11F	probably damaging	Het
P4hb	T	C	11: 120,562,696	E381G	probably damaging	Het
Pax4	A	G	6: 28,446,210	Y95H	probably benign	Het
Pdia3	T	C	2: 121,434,820	V390A	probably damaging	Het
Pigv	A	C	4: 133,662,723	D49E	possibly damaging	Het
Pik3c2a	T	A	7: 116,350,931		probably null	Het
Plxnb1	T	A	9: 109,106,619		probably benign	Het
Polq	A	G	16: 37,078,366	T2163A	probably damaging	Het
Pou5f2	T	C	13: 78,025,853	S305P	probably benign	Het
Ppm1h	A	T	10: 122,920,725	H425L	possibly damaging	Het
Ppp1r13b	G	T	12: 111,833,788	D518E	probably benign	Het
Prf1	A	T	10: 61,303,895	D544V	probably benign	Het
Prl3b1	T	C	13: 27,247,965	F158L	probably benign	Het
Prss41	C	T	17: 23,837,490		probably null	Het
Prune2	T	G	19: 17,120,523	N1130K	probably damaging	Het
Ptgdr2	T	C	19: 10,940,425	F102S	probably damaging	Het
Ptprq	T	G	10: 107,667,422	K792Q	probably damaging	Het
Rcbtb2	T	C	14: 73,174,386		probably benign	Het
Rgs14	C	A	13: 55,383,700	S479*	probably null	Het
Sash1	A	T	10: 8,729,413	V1071D	probably benign	Het
Sdsl	G	A	5: 120,463,153	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,647,624	Q365L	probably benign	Het
Sh2d4a	A	T	8: 68,331,083	Q223L	probably damaging	Het
Slc14a2	T	C	18: 78,150,386		probably benign	Het
Slc5a9	A	C	4: 111,896,349	S52A	possibly damaging	Het
Slc6a18	C	A	13: 73,675,725	V99L	probably benign	Het
Smarca2	T	C	19: 26,683,905	S967P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,299,684	T248M	probably damaging	Het
Tcte1	A	T	17: 45,541,311	N490I	probably benign	Het
Tet3	T	C	6: 83,386,075	E705G	probably damaging	Het
Tfeb	T	A	17: 47,791,559	H450Q	probably damaging	Het
Tmem248	G	A	5: 130,231,812	E73K	probably damaging	Het
Trip12	A	T	1: 84,760,866	L756*	probably null	Het
Try5	C	T	6: 41,314,651		probably null	Het
Tsc1	A	T	2: 28,665,637		probably benign	Het
Tspear	G	A	10: 77,875,120		probably benign	Het
Ttc6	T	C	12: 57,576,217	I134T	possibly damaging	Het
Ttn	T	A	2: 76,755,296		probably null	Het
Ube3b	A	G	5: 114,411,149	E738G	probably damaging	Het
Usp36	T	C	11: 118,262,508		probably benign	Het
Vmn2r71	T	A	7: 85,620,637	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,142	S1074P	probably damaging	Het
Vps13d	A	G	4: 145,108,508	S2757P	probably damaging	Het
Vwde	C	A	6: 13,208,338	G182C	possibly damaging	Het
Wdr33	T	C	18: 31,833,599	V164A	probably damaging	Het
Zkscan16	A	G	4: 58,956,525	Y269C	possibly 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
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'- CGTCTCTCACAGCAATGAAATATAC -3'
(R):5'- TCAGGTATGGCAGTTCCTTG -3'

Sequencing Primer
(F):5'- CTCACGTTAGACTTGGTAAGCTAGC -3'
(R):5'- CAGGTATGGCAGTTCCTTGTATTCC -3'

Posted On

2014-08-25