Mutagenetix > Incidental Mutations

Incidental Mutation 'R7636:Zzz3'

589949

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 #

R7636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152395473-152462826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152427652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 116 (A116T)

Ref Sequence

ENSEMBL: ENSMUSP00000101706 (fasta)

Gene Model

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

AlphaFold

Q6KAQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000089982
AA Change: A116T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087428
Gene: ENSMUSG00000039068
AA Change: A116T

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: A116T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101706
Gene: ENSMUSG00000039068
AA Change: A116T

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: A116T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101707
Gene: ENSMUSG00000039068
AA Change: A116T

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

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 17,117,837	E199K	possibly damaging	Het
4932415D10Rik	T	A	10: 82,295,139	D679V	probably benign	Het
Akap13	C	A	7: 75,609,873	N748K	probably benign	Het
Aldh16a1	G	T	7: 45,147,531	P58T	unknown	Het
Amhr2	T	A	15: 102,452,458	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,232,380	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,682,703	L649*	probably null	Het
Apob	T	C	12: 8,009,516	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,010,810	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344	I384V	probably benign	Het
Clcn1	A	T	6: 42,291,334	K147*	probably null	Het
Ctnna1	T	A	18: 35,223,473	N398K	possibly damaging	Het
Dcdc2a	A	T	13: 25,102,622	K176M	probably damaging	Het
Depdc5	T	A	5: 32,917,983	S502T	probably benign	Het
Fam166a	A	T	2: 25,218,820	H7L	probably damaging	Het
Fam83e	G	A	7: 45,727,026	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,329,175	E99K	probably benign	Het
Fbxw2	T	C	2: 34,812,944	T186A	probably benign	Het
Frem2	T	A	3: 53,653,247	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,505,314	D321E	probably damaging	Het
Gsdmc2	T	A	15: 63,828,192	T244S	probably benign	Het
Heatr5a	C	A	12: 51,888,196	G1675W	probably damaging	Het
Heatr5a	G	A	12: 51,952,558	L287F	probably damaging	Het
Hfm1	C	A	5: 106,917,466	A116S	probably benign	Het
Insr	A	G	8: 3,258,709	I109T	probably damaging	Het
Itga4	A	G	2: 79,313,832	I688V	probably benign	Het
Lipe	A	G	7: 25,388,617	M49T	probably benign	Het
Lrriq3	A	G	3: 155,188,150	Y496C	probably damaging	Het
Lyst	T	C	13: 13,616,747		probably null	Het
Megf10	T	A	18: 57,276,989	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,980,973	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,668,297	V386A	possibly damaging	Het
Olfr1234	A	T	2: 89,363,239	Y63*	probably null	Het
Olfr317	A	T	11: 58,732,447	N239K	possibly damaging	Het
Olfr605	C	A	7: 103,442,833	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,191,431	D113E	possibly damaging	Het
Rab11fip2	A	T	19: 59,942,885	I39K	possibly damaging	Het
Rab1b	A	T	19: 5,100,782	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,720,387	L140Q	probably damaging	Het
Repin1	T	C	6: 48,596,365	F76S	probably benign	Het
Robo1	A	G	16: 72,563,727	D9G		Het
Scn3a	A	G	2: 65,497,689	L819P	probably damaging	Het
Scn7a	A	T	2: 66,743,828	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,725,011	S38P	probably benign	Het
Sin3b	A	T	8: 72,747,734	K549*	probably null	Het
Sorl1	A	G	9: 42,092,334	F222S	possibly damaging	Het
Tmem147	A	T	7: 30,728,301		probably null	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tmem179	C	T	12: 112,510,743		probably null	Het
Tubg2	A	T	11: 101,160,087	I213F	probably damaging	Het
Zfhx3	T	C	8: 108,946,809	I1497T	probably benign	Het
Zfp128	A	T	7: 12,890,112	M136L	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
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'- TAGCATTGCTCACCCAGAAG -3'
(R):5'- GACATCGACAAGCTCGTTTAG -3'

Sequencing Primer
(F):5'- CTTCTCATTCTCAAGTACGATCAAG -3'
(R):5'- AGCCCCTTGAAAGTCTGC -3'

Posted On

2019-10-24