Mutagenetix > Incidental Mutations

Incidental Mutation 'R9243:Zzz3'

701084

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152428283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 326 (D326G)

Ref Sequence

ENSEMBL: ENSMUSP00000101706 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089982
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D326G

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: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D326G

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: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D326G

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,141,252	S1816R	probably benign	Het
Appl1	A	T	14: 26,927,753	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,457,067	I732F	possibly damaging	Het
Capg	T	A	6: 72,561,087	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333	F38L	probably benign	Het
Cep295	T	A	9: 15,332,309	N1617I	probably benign	Het
Cep57	C	T	9: 13,826,908		probably benign	Het
Csnk1g2	C	A	10: 80,639,814	A405E	probably damaging	Het
Dock7	A	G	4: 98,969,634	V1481A	unknown	Het
Exoc2	T	C	13: 30,925,795	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Gad2	A	G	2: 22,635,041	E279G	possibly damaging	Het
Gria1	A	G	11: 57,238,062	Y454C	probably benign	Het
Grik3	C	T	4: 125,707,897	R856C	probably benign	Het
Hdac4	C	A	1: 91,972,789	R622I	probably damaging	Het
Hdac4	T	C	1: 91,972,790	R622G	probably benign	Het
Idh1	A	G	1: 65,168,497		probably null	Het
Igf1r	A	G	7: 68,212,027	S1112G	probably benign	Het
Impg2	A	T	16: 56,231,460	S242C	probably damaging	Het
Itgb1	T	A	8: 128,707,106	S34T	probably benign	Het
Kcnh8	A	G	17: 52,898,514	I546V	probably damaging	Het
Klrd1	T	G	6: 129,591,832	M1R	probably null	Het
Krtap16-1	A	T	11: 99,985,818	C253*	probably null	Het
Mapk7	A	G	11: 61,493,709	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,383,262	N74D	probably benign	Het
Myd88	A	T	9: 119,339,707	S85T	probably benign	Het
Myo1c	G	T	11: 75,650,611		probably benign	Het
Nap1l3	C	A	X: 122,396,814	S69I	unknown	Het
Nnt	T	A	13: 119,357,524	N674Y	unknown	Het
Nrcam	A	G	12: 44,573,824	Y878C	probably damaging	Het
Obscn	T	C	11: 59,132,566	T662A	probably benign	Het
Olfr1090	A	G	2: 86,753,938	S267P	possibly damaging	Het
Olfr115	T	C	17: 37,610,517	Q78R	probably benign	Het
Olfr615	A	G	7: 103,560,575	S33G	probably benign	Het
Olfr724	A	G	14: 49,960,424	V216A	probably benign	Het
Pappa2	C	A	1: 158,936,193	V583L	probably damaging	Het
Parp1	T	G	1: 180,588,115	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,486,936	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Prrc1	C	G	18: 57,363,199	S74W	possibly damaging	Het
Rag2	G	A	2: 101,630,074	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,735,187	E126G	probably damaging	Het
Skiv2l	G	A	17: 34,845,222	T496M	probably benign	Het
Slc17a1	C	A	13: 23,880,449	F329L	probably benign	Het
Slc52a3	G	A	2: 152,004,592	V158I	probably benign	Het
Slf1	T	A	13: 77,125,456	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,234,750		probably null	Het
Tmem125	A	T	4: 118,541,892	V114E	probably damaging	Het
Ube2f	A	T	1: 91,254,258		probably benign	Het
Zdhhc19	T	A	16: 32,497,174	F30I	probably damaging	Het
Zfp462	C	A	4: 55,009,595	Y520*	probably null	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
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
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'- AACCCAGACCTCAGTGTTCTG -3'
(R):5'- TCTCAGGGTGTACCGATGTTC -3'

Sequencing Primer
(F):5'- GACAGTTGTATAGACCATTTCGTGCC -3'
(R):5'- CCTGAGGTTCTGATAAAGATGTCATC -3'

Posted On

2022-03-25