Mutagenetix > Incidental Mutations

Incidental Mutation 'R4768:Zzz3'

366265

Institutional Source

Beutler Lab

Gene Symbol

Zzz3

Ensembl Gene

ENSMUSG00000039068

Gene Name

zinc finger, ZZ domain containing 3

Synonyms

3110065C23Rik, 6430567E01Rik

MMRRC Submission

042409-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4768 (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 152448783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 557 (D557G)

Ref Sequence

ENSEMBL: ENSMUSP00000087428 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000089982
AA Change: D557G

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

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: D557G

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: D557G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: D557G

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: D557G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: D557G

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: ENSMUST00000106103
AA Change: D56G

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: D56G

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: D61G

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: D61G

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	T	C	18: 34,580,952	R207G	probably damaging	Het
Acadm	A	G	3: 153,922,942	Y419H	probably benign	Het
Adam28	A	G	14: 68,634,815	V326A	possibly damaging	Het
Amdhd1	T	A	10: 93,534,484	E164V	possibly damaging	Het
Arhgap5	T	C	12: 52,557,492	L29S	probably damaging	Het
Asb5	G	A	8: 54,584,996	D185N	probably benign	Het
Ascc3	T	C	10: 50,700,499	I850T	probably damaging	Het
Atxn1	A	G	13: 45,557,548	V636A	probably damaging	Het
Bmp4	C	T	14: 46,385,924	R55Q	probably damaging	Het
Cmas	T	C	6: 142,764,431		probably null	Het
Dchs1	T	C	7: 105,771,620	D531G	possibly damaging	Het
Etv1	T	C	12: 38,827,793	L44P	probably damaging	Het
Fam13c	T	A	10: 70,551,750	I448N	probably damaging	Het
Fuk	T	C	8: 110,892,134	T331A	probably benign	Het
Fut8	A	G	12: 77,365,280	K135E	probably benign	Het
Gabrg1	A	G	5: 70,754,173	F370S	probably damaging	Het
Ighv1-5	A	T	12: 114,513,523	M53K	probably damaging	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Kansl1l	A	G	1: 66,801,133	V336A	probably damaging	Het
Krt27	T	A	11: 99,349,525	D189V	probably damaging	Het
Marf1	A	T	16: 14,131,597	F1033I	possibly damaging	Het
Mdfi	G	A	17: 47,824,550	T85M	probably damaging	Het
Mrgpra3	C	A	7: 47,589,728	R150L	possibly damaging	Het
Mst1r	C	A	9: 107,911,650	T456K	probably damaging	Het
Myh14	A	T	7: 44,613,675	M1734K	probably benign	Het
Myo1e	T	C	9: 70,370,469	I816T	possibly damaging	Het
Olfr1066	A	T	2: 86,455,650	L207*	probably null	Het
Olfr77	A	C	9: 19,920,545	N112T	possibly damaging	Het
Olfr874	T	C	9: 37,746,881	L249P	probably damaging	Het
Olfr922	T	A	9: 38,815,949	Y149N	probably damaging	Het
Pde4d	A	G	13: 109,933,874	R6G	probably damaging	Het
Pilrb1	G	A	5: 137,857,526		probably benign	Het
Prrx1	A	G	1: 163,257,765	Y199H	probably damaging	Het
Rxfp1	T	C	3: 79,686,868	D73G	probably damaging	Het
Ryr1	G	T	7: 29,004,821		probably benign	Het
Shprh	A	G	10: 11,181,540	E1068G	probably damaging	Het
Slc19a3	G	A	1: 83,023,113	T61I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374	R308Q	probably damaging	Het
Suclg2	T	G	6: 95,566,488	I321L	probably damaging	Het
Top3a	A	G	11: 60,762,490	F53L	probably damaging	Het
Ttn	C	T	2: 76,768,766		probably benign	Het
Upp2	T	C	2: 58,777,895	V182A	probably damaging	Het
Vmn2r65	A	G	7: 84,947,394	L151P	probably damaging	Het
Xylt2	T	C	11: 94,670,472	D155G	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
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
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'- TAAAGTTGCTGCCGGTACACTC -3'
(R):5'- TTTTGGTCTAGCGGGCAAC -3'

Sequencing Primer
(F):5'- GGTACACTCTGCATCGCTG -3'
(R):5'- TAGGACACTACAAGACATTTTCCTC -3'

Posted On

2015-12-21