Mutagenetix > Incidental Mutations

Incidental Mutation 'R8490:Zzz3'

657938

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 #

R8490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 152428653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 449 (C449*)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably null
Transcript: ENSMUST00000089982
AA Change: C449*

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: C449*

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 null
Transcript: ENSMUST00000106100
AA Change: C449*

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: C449*

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 null
Transcript: ENSMUST00000106101
AA Change: C449*

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: C449*

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,284,097	K1609Q	probably damaging	Het
Arl5a	A	G	2: 52,424,602	F12L	probably benign	Het
Armc9	C	T	1: 86,274,403	T761I	probably benign	Het
Bmp1	A	G	14: 70,490,133	F670S	possibly damaging	Het
Cd34	T	C	1: 194,938,973	V3A	probably benign	Het
Cdkn2a	A	T	4: 89,294,522	M1K	probably null	Het
Cep135	C	A	5: 76,638,207	H1052Q	probably benign	Het
Cfap100	T	C	6: 90,413,739		probably benign	Het
Cib4	A	T	5: 30,545,731	Y17N	probably damaging	Het
Col3a1	T	G	1: 45,345,956	S78A	probably benign	Het
Crebzf	A	G	7: 90,443,498	M162V	probably benign	Het
Dbx2	T	A	15: 95,654,573	M64L	possibly damaging	Het
Epb41l2	A	T	10: 25,504,230	T884S	probably damaging	Het
Erich3	T	A	3: 154,695,824	S37T		Het
Eya1	G	T	1: 14,184,675	Q383K	possibly damaging	Het
Gm15130	A	T	2: 111,152,885		probably null	Het
Ido1	A	T	8: 24,596,938	M1K	probably null	Het
Loxhd1	C	T	18: 77,441,466	T1069M	possibly damaging	Het
Lrrtm2	T	G	18: 35,213,398		probably null	Het
Map1a	C	T	2: 121,304,564	H1716Y	possibly damaging	Het
Mycbp2	T	A	14: 103,208,831	T1854S	probably benign	Het
Myh13	T	C	11: 67,364,525	S1574P	probably damaging	Het
Neu1	G	A	17: 34,932,006	A78T	probably benign	Het
Nfam1	T	C	15: 83,023,037		probably benign	Het
Olfr1080	A	T	2: 86,553,683	M147K	probably benign	Het
Olfr1257	A	C	2: 89,881,167	T114P	probably damaging	Het
Olfr387-ps1	T	A	11: 73,664,849	L80Q	probably damaging	Het
Pdgfra	T	C	5: 75,170,668		probably null	Het
Ptgfrn	A	T	3: 101,056,370	M642K	probably damaging	Het
R3hdm1	T	A	1: 128,235,127	H980Q	probably benign	Het
Rfc2	C	A	5: 134,582,844	S19*	probably null	Het
Rhbdf1	C	A	11: 32,210,162	S738I	probably damaging	Het
Rif1	T	A	2: 52,110,999	N1488K	probably damaging	Het
Rnf31	G	A	14: 55,596,109	V525I	probably damaging	Het
Rps27a	T	C	11: 29,546,719	D58G	probably benign	Het
Serpinc1	T	G	1: 160,989,458	C41G	probably damaging	Het
Siglece	A	T	7: 43,660,062	V24D	probably benign	Het
Sparcl1	T	A	5: 104,085,708	R592W	probably null	Het
Stard13	A	G	5: 151,063,625	S104P	probably damaging	Het
Ston2	A	G	12: 91,648,131	V501A	possibly damaging	Het
Sv2b	C	A	7: 75,206,085		probably null	Het
Tiam1	T	C	16: 89,885,044	R349G	probably damaging	Het
Tmprss11g	A	G	5: 86,492,117		probably null	Het
Tnik	G	T	3: 28,596,172	R507L	probably damaging	Het
Trabd2b	G	T	4: 114,602,916	S417I	probably damaging	Het
Ube2q1	T	A	3: 89,774,001	V97E	probably benign	Het
Vim	A	T	2: 13,579,454	N306Y	probably damaging	Het
Vmn1r216	G	T	13: 23,099,809	A221S	possibly damaging	Het
Vmn2r113	G	A	17: 22,958,398	A719T	probably benign	Het
Vmn2r66	A	G	7: 85,005,586		probably null	Het
Vps45	T	C	3: 96,041,349	S365G	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
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
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'- CTGAGAACTTCACCTCGGAG -3'
(R):5'- AAAGCAGAACGCATGGTTAC -3'

Sequencing Primer
(F):5'- TTCACCTCGGAGGGCGG -3'
(R):5'- TGGTTACCATGGTTACACATACTC -3'

Posted On

2021-01-18