Mutagenetix > Incidental Mutations

Incidental Mutation 'R5782:Zzz3'

447781

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

043379-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152428100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 265 (E265G)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089982] [ENSMUST00000106100] [ENSMUST00000106101] [ENSMUST00000106103] [ENSMUST00000200570]

AlphaFold

Q6KAQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089982
AA Change: E265G

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: E265G

Domain	Start	End	E-Value	Type
SANT	657	711	1.42e-9	SMART
low complexity region	776	787	N/A	INTRINSIC
low complexity region	799	814	N/A	INTRINSIC
ZnF_ZZ	823	871	6.46e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106100
AA Change: E265G

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: E265G

Domain	Start	End	E-Value	Type
SANT	658	712	1.42e-9	SMART
low complexity region	777	788	N/A	INTRINSIC
low complexity region	800	815	N/A	INTRINSIC
ZnF_ZZ	824	872	6.46e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106101
AA Change: E265G

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: E265G

Domain	Start	End	E-Value	Type
SANT	658	712	1.42e-9	SMART
low complexity region	777	788	N/A	INTRINSIC
low complexity region	800	815	N/A	INTRINSIC
ZnF_ZZ	824	872	6.46e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106103

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068

Domain	Start	End	E-Value	Type
SANT	157	211	1.42e-9	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
ZnF_ZZ	323	371	6.46e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197987

Predicted Effect

probably benign
Transcript: ENSMUST00000200570

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068

Domain	Start	End	E-Value	Type
SANT	161	215	1.42e-9	SMART
low complexity region	280	291	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
ZnF_ZZ	327	375	6.46e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,532,903	I81M	probably benign	Het
2810403A07Rik	T	G	3: 88,711,678	V563G	probably damaging	Het
9130011E15Rik	A	G	19: 45,886,027	V569A	probably benign	Het
Actl9	A	T	17: 33,433,761	Q265L	probably benign	Het
Adamtsl3	T	A	7: 82,540,286		probably null	Het
Agt	A	T	8: 124,557,131		probably null	Het
Ankrd11	A	G	8: 122,900,017	L142P	probably damaging	Het
Arhgef19	C	A	4: 141,256,312	Q719K	probably damaging	Het
Atrnl1	G	T	19: 57,753,286	W1159L	possibly damaging	Het
Atxn2	T	C	5: 121,797,310	Y325H	probably damaging	Het
Brwd1	A	T	16: 96,043,043	Y770*	probably null	Het
Cdc20	T	C	4: 118,433,042	E474G	probably benign	Het
Cdk5rap3	A	G	11: 96,911,586	L254P	probably benign	Het
Cep83	A	T	10: 94,749,032	N333I	probably damaging	Het
Cox4i2	A	C	2: 152,764,811	D150A	probably damaging	Het
Cse1l	A	G	2: 166,929,001	I314M	probably damaging	Het
Cuedc1	A	G	11: 88,170,032	Y67C	probably damaging	Het
Cyp2j9	C	T	4: 96,573,905	V380I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,979	S384P	possibly damaging	Het
Fancd2	A	G	6: 113,548,872	N302S	probably benign	Het
Foxa1	T	A	12: 57,542,516	H306L	probably benign	Het
Gm21994	T	C	2: 150,255,518	E25G	probably benign	Het
Gse1	T	C	8: 120,566,521	S204P	probably damaging	Het
Hspa13	C	A	16: 75,758,097	R367L	probably damaging	Het
Kcnk2	T	G	1: 189,256,579	D267A	probably damaging	Het
Kctd18	A	G	1: 57,959,237	Y68H	probably damaging	Het
Klf7	C	T	1: 64,042,411	E253K	possibly damaging	Het
Lcn12	A	T	2: 25,493,757	F34I	probably damaging	Het
Lrrk2	A	T	15: 91,702,183	R401W	probably damaging	Het
Lzts1	A	T	8: 69,140,698	S86T	probably benign	Het
Mtus1	T	A	8: 41,082,727	I651F	probably damaging	Het
Myl2	T	A	5: 122,104,870	F106L	probably damaging	Het
Neb	T	A	2: 52,264,047	K2351*	probably null	Het
Olfr297	T	A	7: 86,527,213	I152N	probably damaging	Het
Olfr678	T	C	7: 105,069,749	I94T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Parg	A	T	14: 32,274,905	R318*	probably null	Het
Pcdhga3	C	T	18: 37,676,300	S602F	possibly damaging	Het
Pcnx2	A	G	8: 125,753,484	V2028A	probably damaging	Het
Pkhd1	T	C	1: 20,058,600	T3960A	probably benign	Het
Psen1	T	A	12: 83,712,459	H81Q	possibly damaging	Het
Psma6	A	G	12: 55,410,256	N109S	possibly damaging	Het
Ptpro	A	T	6: 137,399,498	I659F	possibly damaging	Het
Rap1gds1	C	G	3: 138,959,079	E288D	possibly damaging	Het
Reln	C	T	5: 22,018,056	R993K	probably benign	Het
Saxo1	T	A	4: 86,445,807	L146F	probably damaging	Het
Six4	A	G	12: 73,104,058	V571A	probably benign	Het
Slc2a10	C	A	2: 165,514,838	Y139*	probably null	Het
Slc34a1	A	G	13: 55,402,688	I66V	possibly damaging	Het
Slfn8	G	T	11: 83,017,041	N46K	probably damaging	Het
Smc6	G	C	12: 11,290,834	A496P	probably damaging	Het
Stk31	T	G	6: 49,469,136	N902K	probably benign	Het
Stk36	T	A	1: 74,605,425	Y114N	possibly damaging	Het
Sult2b1	C	T	7: 45,731,346	V271M	probably damaging	Het
Tenm4	A	G	7: 96,893,039	I1920V	probably benign	Het
Trbc2	A	G	6: 41,546,937		probably benign	Het
Trpc2	A	G	7: 102,083,979	D419G	possibly damaging	Het
Trpm7	T	C	2: 126,797,714	N1654S	probably benign	Het
Tsku	A	T	7: 98,352,850	D91E	probably damaging	Het
Ttn	T	A	2: 76,776,011	R18151S	probably damaging	Het
Tyr	C	T	7: 87,493,016	C112Y	probably damaging	Het
Ubash3a	G	A	17: 31,235,503	G435S	probably benign	Het
Vav1	T	C	17: 57,296,001	I51T	probably damaging	Het
Vmn2r61	T	A	7: 42,299,829	C558S	probably damaging	Het
Zan	C	T	5: 137,420,007	C2943Y	unknown	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp575	C	A	7: 24,585,602	G205C	possibly damaging	Het
Zfp740	G	T	15: 102,208,366		probably benign	Het

Other mutations in Zzz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Zzz3	APN	3	152428514	missense	probably benign	0.16
IGL00707:Zzz3	APN	3	152449043	nonsense	probably null
IGL00983:Zzz3	APN	3	152455810	splice site	probably benign
IGL01586:Zzz3	APN	3	152455839	missense	possibly damaging	0.80
IGL01973:Zzz3	APN	3	152428370	missense	probably benign	0.00
IGL02002:Zzz3	APN	3	152451369	missense	probably damaging	0.98
IGL02009:Zzz3	APN	3	152428115	missense	possibly damaging	0.80
IGL02260:Zzz3	APN	3	152452083	missense	probably benign	0.04
IGL02336:Zzz3	APN	3	152428059	missense	possibly damaging	0.74
IGL02454:Zzz3	APN	3	152428574	missense	probably benign	0.03
IGL02519:Zzz3	APN	3	152427390	missense	probably damaging	1.00
R0067:Zzz3	UTSW	3	152428403	missense	possibly damaging	0.88
R0067:Zzz3	UTSW	3	152428403	missense	possibly damaging	0.88
R0314:Zzz3	UTSW	3	152427448	missense	probably benign	0.00
R0536:Zzz3	UTSW	3	152448828	missense	probably damaging	1.00
R1706:Zzz3	UTSW	3	152449098	missense	probably damaging	1.00
R2869:Zzz3	UTSW	3	152446844	synonymous	silent
R2870:Zzz3	UTSW	3	152446844	synonymous	silent
R2871:Zzz3	UTSW	3	152446844	synonymous	silent
R2872:Zzz3	UTSW	3	152446844	synonymous	silent
R3927:Zzz3	UTSW	3	152455862	missense	probably damaging	1.00
R4195:Zzz3	UTSW	3	152428465	missense	probably benign	0.02
R4768:Zzz3	UTSW	3	152448783	missense	probably damaging	1.00
R5248:Zzz3	UTSW	3	152427545	missense	probably damaging	0.99
R5566:Zzz3	UTSW	3	152455824	missense	probably damaging	1.00
R5752:Zzz3	UTSW	3	152452122	missense	possibly damaging	0.48
R5884:Zzz3	UTSW	3	152450658	missense	probably damaging	1.00
R6008:Zzz3	UTSW	3	152428151	missense	probably benign	0.01
R6155:Zzz3	UTSW	3	152427682	missense	possibly damaging	0.57
R6557:Zzz3	UTSW	3	152428460	missense	probably damaging	1.00
R6865:Zzz3	UTSW	3	152428053	missense	probably benign	0.01
R7344:Zzz3	UTSW	3	152452099	missense	probably damaging	0.98
R7588:Zzz3	UTSW	3	152422768	missense	possibly damaging	0.85
R7636:Zzz3	UTSW	3	152427652	missense	probably benign
R7732:Zzz3	UTSW	3	152448842	missense	probably damaging	1.00
R8157:Zzz3	UTSW	3	152449648	missense	probably null	0.71
R8490:Zzz3	UTSW	3	152428653	nonsense	probably null
R8926:Zzz3	UTSW	3	152427892	missense	possibly damaging	0.76
R9143:Zzz3	UTSW	3	152458271	missense	probably benign	0.04
R9243:Zzz3	UTSW	3	152428283	missense	probably damaging	1.00
X0018:Zzz3	UTSW	3	152428733	missense	possibly damaging	0.88
Z1176:Zzz3	UTSW	3	152449097	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGGCCACTTAATGCTGCAGTAG -3'
(R):5'- ACTGCTCTTTGGAGGCACTG -3'

Sequencing Primer
(F):5'- CCACTTAATGCTGCAGTAGTAGAAG -3'
(R):5'- GAGGCACTGCTATCTCCCAC -3'

Posted On

2016-12-15