Mutagenetix > Incidental Mutations

Incidental Mutation 'R5884:Zzz3'

454557

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

044087-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5884 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152450658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 684 (S684P)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089982
AA Change: S683P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: S683P

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

probably damaging
Transcript: ENSMUST00000106100
AA Change: S684P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: S684P

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 damaging
Transcript: ENSMUST00000106101
AA Change: S684P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: S684P

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 damaging
Transcript: ENSMUST00000106103
AA Change: S183P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: S183P

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: ENSMUST00000150802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197987

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200570
AA Change: S187P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: S187P

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

Meta Mutation Damage Score

0.7126

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.6%
20x: 82.8%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp5	T	C	9: 75,898,554	M446T	probably damaging	Het
Cacna1g	C	T	11: 94,437,867	A1052T	probably damaging	Het
Cand1	C	T	10: 119,213,765	A359T	possibly damaging	Het
Ccne2	A	T	4: 11,199,411	T271S	probably benign	Het
Cep112	A	G	11: 108,570,316	T546A	probably damaging	Het
Ces1g	A	G	8: 93,306,930	S455P	probably benign	Het
Dnah11	A	T	12: 118,177,534	C496S	probably benign	Het
Dtx3l	C	G	16: 35,932,233	E668Q	probably benign	Het
Dysf	T	A	6: 84,186,081	F1579I	probably damaging	Het
Emx2	T	G	19: 59,464,029	D248E	probably damaging	Het
Eri2	A	C	7: 119,772,329	*275E	probably null	Het
F5	G	A	1: 164,195,646	R1591H	probably benign	Het
Fabp3	A	G	4: 130,312,338	T41A	probably benign	Het
Fam89a	C	T	8: 124,751,769	R14H	probably damaging	Het
Gbe1	T	A	16: 70,528,875		probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Golga3	A	G	5: 110,216,895	E1211G	probably damaging	Het
Gpa33	T	C	1: 166,152,760	S131P	probably damaging	Het
Hyal6	T	C	6: 24,743,369	Y355H	probably damaging	Het
Ide	A	T	19: 37,272,153		probably null	Het
Ighv5-21	A	T	12: 114,320,186		probably benign	Het
Iglc1	A	T	16: 19,061,991		probably benign	Het
Impa1	A	T	3: 10,316,224	N199K	probably damaging	Het
Irx5	A	C	8: 92,360,630	T397P	possibly damaging	Het
Kdelc1	T	C	1: 44,117,100	N109S	probably benign	Het
Lonp2	A	G	8: 86,641,626	Y356C	probably damaging	Het
Matn4	A	T	2: 164,404,608		probably benign	Het
Nav2	T	A	7: 49,597,169	Y2147*	probably null	Het
Nek5	C	T	8: 22,088,801		probably null	Het
Olfr1014	T	A	2: 85,777,055	I157K	probably damaging	Het
Olfr1164	A	G	2: 88,093,796	Y47H	probably damaging	Het
Olfr1348	C	A	7: 6,501,843	V128L	probably benign	Het
Omt2b	A	G	9: 78,328,557	M55V	probably benign	Het
Parp4	T	A	14: 56,614,750	H796Q	probably damaging	Het
Pex2	T	C	3: 5,561,299	E150G	probably benign	Het
Psmb2	T	A	4: 126,684,221	V64E	possibly damaging	Het
Psmd6	C	T	14: 14,116,526	R63H	probably damaging	Het
Ptprd	A	G	4: 75,982,690	Y1061H	probably damaging	Het
Rab23	A	G	1: 33,724,886		probably benign	Het
Rad51ap2	GAAAAGGAAACTATTTAAAA	GAAAA	12: 11,457,533		probably benign	Het
Reg1	C	T	6: 78,428,217	S141L	possibly damaging	Het
Rock1	A	T	18: 10,099,361	I680K	probably benign	Het
Sez6l2	A	G	7: 126,970,156		probably benign	Het
Slc34a2	A	T	5: 53,069,380	Q615L	possibly damaging	Het
Slu7	A	G	11: 43,443,418	K424E	probably benign	Het
Tctn2	A	T	5: 124,603,832		noncoding transcript	Het
Tmem87a	T	A	2: 120,404,124		probably benign	Het
Trappc4	A	G	9: 44,404,088	F198L	probably damaging	Het
Usp33	C	T	3: 152,368,330	T271I	probably benign	Het
Vmn1r15	T	A	6: 57,259,008	I287K	probably damaging	Het
Vmn2r75	A	C	7: 86,165,370	I305R	probably benign	Het
Wdr26	T	C	1: 181,187,541		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
R5782:Zzz3	UTSW	3	152428100	missense	possibly damaging	0.69
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'- ACCTTAGCCTCCTACCTGGAAC -3'
(R):5'- TCAAGCTAGTGACACAAAAGTAAGC -3'

Sequencing Primer
(F):5'- GAACGGTTCCTACCTTGAGAATC -3'
(R):5'- AGCAGGGCTAATCAGTTTAAAAC -3'

Posted On

2017-02-10