Mutagenetix > Incidental Mutations

Incidental Mutation 'R6865:Zzz3'

535853

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6865 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152428053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 249 (D249E)

Ref Sequence

ENSEMBL: ENSMUSP00000101707 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000089982
AA Change: D249E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D249E

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 benign
Transcript: ENSMUST00000106100
AA Change: D249E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D249E

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: ENSMUST00000106101
AA Change: D249E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D249E

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: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,270,213	M293L	possibly damaging	Het
Ankrd11	T	C	8: 122,894,944	D723G	probably benign	Het
Ankrd26	T	C	6: 118,523,481	R1010G	possibly damaging	Het
Apob	G	A	12: 8,008,847	R2410H	probably benign	Het
Auh	T	C	13: 52,838,129	D275G	probably damaging	Het
Card10	G	T	15: 78,802,622	D47E	possibly damaging	Het
Ccdc141	C	T	2: 77,029,235		probably null	Het
Cfap206	T	C	4: 34,714,448	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,086,915	Y500*	probably null	Het
Cop1	T	A	1: 159,308,954	D536E	probably damaging	Het
Crh	G	C	3: 19,694,140	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,621,827		probably null	Het
Efcab7	T	C	4: 99,912,596	S127P	probably damaging	Het
Efhc1	A	G	1: 20,960,218	Y125C	probably damaging	Het
Fga	T	A	3: 83,031,541	C408S	probably damaging	Het
Flot2	T	C	11: 78,049,492	S22P	probably benign	Het
Fndc1	T	A	17: 7,772,840	T675S	unknown	Het
Foxc1	A	G	13: 31,808,853	D549G	unknown	Het
Gldc	T	C	19: 30,133,762	N538S	possibly damaging	Het
Grk4	T	G	5: 34,731,550	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,770,129	R111G	probably benign	Het
Heatr6	C	T	11: 83,769,140	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,620,013		probably null	Het
Msrb1	T	C	17: 24,736,711	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo3a	A	G	2: 22,574,301	I185V	probably benign	Het
Myo5c	T	C	9: 75,269,596	S608P	probably benign	Het
Nek6	A	G	2: 38,569,666	I174V	probably benign	Het
Nmt2	T	C	2: 3,314,729	V252A	probably damaging	Het
Nudt9	G	T	5: 104,059,679	R179M	probably damaging	Het
Nwd1	T	C	8: 72,657,062	V29A	possibly damaging	Het
Olah	T	C	2: 3,342,927	D216G	possibly damaging	Het
Olfr156	T	C	4: 43,821,346	N5S	probably benign	Het
Olfr666	T	C	7: 104,893,512	I39V	probably benign	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Pkd1	T	C	17: 24,576,487	V2318A	probably benign	Het
Pknox1	T	A	17: 31,588,560	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,262,381	R321*	probably null	Het
Pxdn	A	G	12: 30,014,583		probably null	Het
Rab44	A	T	17: 29,139,227	I130F	probably benign	Het
Rnf130	T	C	11: 50,071,264	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,064,491	C450*	probably null	Het
Slco1c1	A	T	6: 141,540,052	Y136F	probably damaging	Het
Synj2	C	T	17: 6,017,569	Q106*	probably null	Het
Uckl1	T	C	2: 181,574,493	N138S	probably damaging	Het
Usp19	G	T	9: 108,498,819	E203*	probably null	Het
Vdr	A	G	15: 97,857,505	I379T	probably damaging	Het
Zfp503	C	A	14: 21,986,033	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,644,361	N1218S	possibly damaging	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
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'- GGAAGGGCCACTTAATGCTG -3'
(R):5'- ACTGCTCTTTGGAGGCACTG -3'

Sequencing Primer
(F):5'- GCCACTTAATGCTGCAGTAGTAG -3'
(R):5'- CCTCAGAATCTCTTAAGGATGACTG -3'

Posted On

2018-10-18