Mutagenetix > Incidental Mutations

Incidental Mutation 'R8157:Zzz3'

633053

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 #

R8157 (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 152449648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 645 (I645V)

Ref Sequence

ENSEMBL: ENSMUSP00000101706 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably null
Transcript: ENSMUST00000089982
AA Change: I644V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: I644V

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: I645V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: I645V

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: I645V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: I645V

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: ENSMUST00000106103
AA Change: I144V

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101709
Gene: ENSMUSG00000039068
AA Change: I144V

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 null
Transcript: ENSMUST00000200570
AA Change: I148V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143693
Gene: ENSMUSG00000039068
AA Change: I148V

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: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,319,527	R51W	probably damaging	Het
3110002H16Rik	T	C	18: 12,188,633	V497A	possibly damaging	Het
Adam3	A	G	8: 24,707,437	I326T	probably benign	Het
Alpk3	A	G	7: 81,093,722	K1096E	probably benign	Het
Aph1a	T	C	3: 95,894,838	V44A	possibly damaging	Het
Ash1l	T	A	3: 89,063,707		probably null	Het
Atg2b	A	G	12: 105,662,940	M410T	probably damaging	Het
Ccdc15	C	T	9: 37,315,457	G407D	probably benign	Het
Cd200r4	T	A	16: 44,833,141	N137K	probably damaging	Het
Clec18a	A	G	8: 111,072,051	L438P	probably damaging	Het
Clip1	A	G	5: 123,630,719	S606P	probably benign	Het
Col11a2	G	A	17: 34,061,256	G1193E	unknown	Het
Col6a4	A	G	9: 106,067,898	S1006P	possibly damaging	Het
Ctsc	A	T	7: 88,302,208	D221V	probably benign	Het
Ctse	T	C	1: 131,672,511	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,021,627	N93S	probably benign	Het
Daam1	A	T	12: 71,952,489	D633V	probably damaging	Het
Dlg2	G	A	7: 92,386,932	R607H	probably damaging	Het
Dsg2	T	A	18: 20,580,549	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,108,057	S153A	probably damaging	Het
Eprs	C	A	1: 185,398,394	H651N	probably benign	Het
Fat2	T	C	11: 55,252,084	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,554,855	K252R	probably benign	Het
Galt	A	T	4: 41,757,226	Q193L	probably benign	Het
Gatsl2	T	C	5: 134,137,097	F228S	possibly damaging	Het
Gm21964	A	G	8: 110,108,861	M24V	probably benign	Het
Gm7356	T	C	17: 14,001,321	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Hectd1	T	A	12: 51,791,290	R696S	possibly damaging	Het
Hydin	A	G	8: 110,452,036	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,305,322	S14R	probably benign	Het
Lamb2	C	T	9: 108,480,646	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,254,222	R202*	probably null	Het
Lrit3	T	C	3: 129,800,635	T98A	probably benign	Het
Macc1	A	G	12: 119,445,993	I165M	probably benign	Het
Mapre2	T	A	18: 23,858,161	M162K	probably benign	Het
Mzf1	T	A	7: 13,044,352	H454L	probably damaging	Het
Naa30	T	A	14: 49,173,408	N264K	probably benign	Het
Olfr199	A	G	16: 59,215,989	V208A	probably benign	Het
Olfr924	T	A	9: 38,848,466	Y117*	probably null	Het
Osr2	T	C	15: 35,301,917	I221T	probably benign	Het
Pcdh12	A	T	18: 38,282,797	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,303,239	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,403,155	V734E	probably damaging	Het
Pibf1	T	A	14: 99,196,395	L593I	probably benign	Het
Ppp1r32	A	T	19: 10,478,265	F207I	probably damaging	Het
Prag1	G	A	8: 36,147,239	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,199,347	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,540	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,695,617	N356S	probably benign	Het
Scrib	T	C	15: 76,059,188	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,128,448	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,985,066	L97V	probably benign	Het
Trabd	T	A	15: 89,085,821	L340H	probably damaging	Het
Trpm1	T	C	7: 64,199,269	W88R	probably damaging	Het
Txndc12	G	T	4: 108,853,222		probably null	Het
Vmn1r175	T	C	7: 23,809,098	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,036,012	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,751,233	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,137,327	E162G	probably benign	Het
Zfp93	T	A	7: 24,276,460	C623*	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
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'- TGGCCTTGTCTCAGTTGGAC -3'
(R):5'- AACAGCTTTGCTTGTCTTGAGG -3'

Sequencing Primer
(F):5'- GGACTGCTAGTTTTCAATTTGAACCC -3'
(R):5'- CACAGCTGCTTTTAAGAGTATCATCC -3'

Posted On

2020-06-30