Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Dzank1'

31394

Institutional Source

Beutler Lab

Gene Symbol

Dzank1

Ensembl Gene

ENSMUSG00000037259

Gene Name

double zinc ribbon and ankyrin repeat domains 1

Synonyms

2810039F03Rik, 6330439K17Rik, Ankrd64

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144470557-144527414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144476106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 714 (L714Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081982] [ENSMUST00000163701]

AlphaFold

Q8C008

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081982
AA Change: L713Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: L713Q

Domain	Start	End	E-Value	Type
Pfam:CHB_HEX_C	11	99	1.1e-16	PFAM
Pfam:CHB_HEX_C_1	20	97	4.5e-18	PFAM
Pfam:Fn3_assoc	32	100	1.6e-17	PFAM
ZnF_RBZ	268	292	5.44e0	SMART
ZnF_RBZ	307	331	2.55e0	SMART
Blast:ZnF_RBZ	355	378	1e-7	BLAST
ZnF_RBZ	385	409	3.13e0	SMART
low complexity region	591	604	N/A	INTRINSIC
ANK	631	662	2.97e2	SMART
ANK	666	695	2.83e0	SMART
Blast:ANK	700	731	7e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149523

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163701
AA Change: L714Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: L714Q

Domain	Start	End	E-Value	Type
Pfam:CHB_HEX_C	12	99	1.5e-17	PFAM
Pfam:CHB_HEX_C_1	21	97	8.5e-17	PFAM
Pfam:Fn3_assoc	32	100	3.7e-18	PFAM
ZnF_RBZ	269	293	5.44e0	SMART
ZnF_RBZ	308	332	2.55e0	SMART
Blast:ZnF_RBZ	356	379	1e-7	BLAST
ZnF_RBZ	386	410	3.13e0	SMART
low complexity region	592	605	N/A	INTRINSIC
ANK	632	663	2.97e2	SMART
ANK	667	696	2.83e0	SMART
Blast:ANK	701	732	7e-12	BLAST

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in Dzank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Dzank1	APN	2	144481725	nonsense	probably null
IGL00955:Dzank1	APN	2	144490174	missense	probably benign	0.22
IGL01888:Dzank1	APN	2	144476154	splice site	probably null
IGL02108:Dzank1	APN	2	144506223	missense	probably benign	0.02
IGL02979:Dzank1	APN	2	144488738	missense	probably damaging	1.00
BB008:Dzank1	UTSW	2	144481694	missense	probably benign	0.00
BB018:Dzank1	UTSW	2	144481694	missense	probably benign	0.00
PIT4466001:Dzank1	UTSW	2	144483373	missense	probably benign	0.00
R0603:Dzank1	UTSW	2	144511512	missense	probably benign	0.04
R1052:Dzank1	UTSW	2	144513445	missense	probably benign
R1386:Dzank1	UTSW	2	144491831	missense	probably benign	0.05
R1529:Dzank1	UTSW	2	144482188	missense	probably benign	0.01
R1634:Dzank1	UTSW	2	144481669	missense	probably benign	0.01
R2761:Dzank1	UTSW	2	144513449	missense	probably benign
R4024:Dzank1	UTSW	2	144482227	missense	probably benign
R4279:Dzank1	UTSW	2	144491845	missense	probably benign	0.00
R4324:Dzank1	UTSW	2	144488698	missense	possibly damaging	0.95
R4516:Dzank1	UTSW	2	144510122	intron	probably benign
R4713:Dzank1	UTSW	2	144491804	missense	probably benign	0.13
R4782:Dzank1	UTSW	2	144504399	missense	probably damaging	1.00
R4994:Dzank1	UTSW	2	144522566	missense	probably damaging	1.00
R5157:Dzank1	UTSW	2	144483412	missense	probably damaging	0.98
R5514:Dzank1	UTSW	2	144481685	missense	probably benign	0.01
R5580:Dzank1	UTSW	2	144506178	missense	probably damaging	1.00
R5635:Dzank1	UTSW	2	144483407	missense	probably damaging	1.00
R5793:Dzank1	UTSW	2	144506224	missense	probably benign	0.14
R5820:Dzank1	UTSW	2	144513488	missense	probably damaging	1.00
R5976:Dzank1	UTSW	2	144501489	missense	probably damaging	1.00
R6935:Dzank1	UTSW	2	144476094	missense	possibly damaging	0.64
R6980:Dzank1	UTSW	2	144490136	missense	possibly damaging	0.87
R7331:Dzank1	UTSW	2	144490270	missense	probably benign	0.17
R7691:Dzank1	UTSW	2	144506171	missense	probably damaging	1.00
R7814:Dzank1	UTSW	2	144522564	missense	probably damaging	1.00
R7879:Dzank1	UTSW	2	144491798	missense	probably benign	0.01
R7931:Dzank1	UTSW	2	144481694	missense	probably benign	0.00
R8127:Dzank1	UTSW	2	144488816	missense	probably damaging	1.00
R8192:Dzank1	UTSW	2	144490225	missense	probably benign	0.05
R8314:Dzank1	UTSW	2	144502958	missense	probably damaging	1.00
R8944:Dzank1	UTSW	2	144491809	missense	probably benign	0.00
R9025:Dzank1	UTSW	2	144476092	missense	probably benign	0.04
R9096:Dzank1	UTSW	2	144474962	missense	possibly damaging	0.62
R9097:Dzank1	UTSW	2	144474962	missense	possibly damaging	0.62
R9108:Dzank1	UTSW	2	144522471	missense	probably benign	0.00
R9261:Dzank1	UTSW	2	144513424	missense	probably benign	0.20
R9410:Dzank1	UTSW	2	144482130	critical splice donor site	probably null
R9418:Dzank1	UTSW	2	144513488	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTTCAAGGGGCTGTGTGATTTC -3'
(R):5'- AACCTGAGGACCCATGCTGTTCTG -3'

Sequencing Primer
(F):5'- TTTGTCCCAACTGCATCAAAG -3'
(R):5'- ATGCtgttctgttttgttttgttttg -3'

Posted On

2013-04-24