Mutagenetix > Incidental Mutation

Incidental Mutation 'R2761:Dzank1'

254029

Institutional Source

Beutler Lab

Gene Symbol

Dzank1

Ensembl Gene

ENSMUSG00000037259

Gene Name

double zinc ribbon and ankyrin repeat domains 1

Synonyms

2810039F03Rik, 6330439K17Rik, Ankrd64

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144312477-144369334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144355369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 109 (M109V)

Ref Sequence

ENSEMBL: ENSMUSP00000133177 (fasta)

Gene Model

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

AlphaFold

Q8C008

Predicted Effect

probably benign
Transcript: ENSMUST00000081982
AA Change: M109V

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

SMART Domains

Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: M109V

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: ENSMUST00000124823

Predicted Effect

probably benign
Transcript: ENSMUST00000163701
AA Change: M109V

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

SMART Domains

Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: M109V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,541 (GRCm39)	V910A	probably damaging	Het
1700123K08Rik	T	C	5: 138,562,436 (GRCm39)	T102A	possibly damaging	Het
Acoxl	T	C	2: 127,719,733 (GRCm39)	Y165H	probably benign	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Cdh1	T	A	8: 107,380,481 (GRCm39)	I208N	possibly damaging	Het
Col11a2	A	G	17: 34,270,000 (GRCm39)	I477V	probably damaging	Het
Cpa2	A	G	6: 30,554,193 (GRCm39)	D271G	probably damaging	Het
Hdac3	A	T	18: 38,078,779 (GRCm39)	S111T	probably benign	Het
Kremen1	GGG	GGGTGG	11: 5,151,792 (GRCm39)		probably benign	Het
Krt31	T	C	11: 99,938,691 (GRCm39)	T301A	probably benign	Het
Rad21	T	A	15: 51,846,039 (GRCm39)	K10N	probably damaging	Het
Snap47	T	C	11: 59,328,885 (GRCm39)	D139G	probably benign	Het
Tango6	C	A	8: 107,425,664 (GRCm39)	T408N	possibly damaging	Het

Other mutations in Dzank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Dzank1	APN	2	144,323,645 (GRCm39)	nonsense	probably null
IGL00955:Dzank1	APN	2	144,332,094 (GRCm39)	missense	probably benign	0.22
IGL01888:Dzank1	APN	2	144,318,074 (GRCm39)	splice site	probably null
IGL02108:Dzank1	APN	2	144,348,143 (GRCm39)	missense	probably benign	0.02
IGL02979:Dzank1	APN	2	144,330,658 (GRCm39)	missense	probably damaging	1.00
BB008:Dzank1	UTSW	2	144,323,614 (GRCm39)	missense	probably benign	0.00
BB018:Dzank1	UTSW	2	144,323,614 (GRCm39)	missense	probably benign	0.00
PIT4466001:Dzank1	UTSW	2	144,325,293 (GRCm39)	missense	probably benign	0.00
R0388:Dzank1	UTSW	2	144,318,026 (GRCm39)	missense	possibly damaging	0.86
R0603:Dzank1	UTSW	2	144,353,432 (GRCm39)	missense	probably benign	0.04
R1052:Dzank1	UTSW	2	144,355,365 (GRCm39)	missense	probably benign
R1386:Dzank1	UTSW	2	144,333,751 (GRCm39)	missense	probably benign	0.05
R1529:Dzank1	UTSW	2	144,324,108 (GRCm39)	missense	probably benign	0.01
R1634:Dzank1	UTSW	2	144,323,589 (GRCm39)	missense	probably benign	0.01
R4024:Dzank1	UTSW	2	144,324,147 (GRCm39)	missense	probably benign
R4279:Dzank1	UTSW	2	144,333,765 (GRCm39)	missense	probably benign	0.00
R4324:Dzank1	UTSW	2	144,330,618 (GRCm39)	missense	possibly damaging	0.95
R4516:Dzank1	UTSW	2	144,352,042 (GRCm39)	intron	probably benign
R4713:Dzank1	UTSW	2	144,333,724 (GRCm39)	missense	probably benign	0.13
R4782:Dzank1	UTSW	2	144,346,319 (GRCm39)	missense	probably damaging	1.00
R4994:Dzank1	UTSW	2	144,364,486 (GRCm39)	missense	probably damaging	1.00
R5157:Dzank1	UTSW	2	144,325,332 (GRCm39)	missense	probably damaging	0.98
R5514:Dzank1	UTSW	2	144,323,605 (GRCm39)	missense	probably benign	0.01
R5580:Dzank1	UTSW	2	144,348,098 (GRCm39)	missense	probably damaging	1.00
R5635:Dzank1	UTSW	2	144,325,327 (GRCm39)	missense	probably damaging	1.00
R5793:Dzank1	UTSW	2	144,348,144 (GRCm39)	missense	probably benign	0.14
R5820:Dzank1	UTSW	2	144,355,408 (GRCm39)	missense	probably damaging	1.00
R5976:Dzank1	UTSW	2	144,343,409 (GRCm39)	missense	probably damaging	1.00
R6935:Dzank1	UTSW	2	144,318,014 (GRCm39)	missense	possibly damaging	0.64
R6980:Dzank1	UTSW	2	144,332,056 (GRCm39)	missense	possibly damaging	0.87
R7331:Dzank1	UTSW	2	144,332,190 (GRCm39)	missense	probably benign	0.17
R7691:Dzank1	UTSW	2	144,348,091 (GRCm39)	missense	probably damaging	1.00
R7814:Dzank1	UTSW	2	144,364,484 (GRCm39)	missense	probably damaging	1.00
R7879:Dzank1	UTSW	2	144,333,718 (GRCm39)	missense	probably benign	0.01
R7931:Dzank1	UTSW	2	144,323,614 (GRCm39)	missense	probably benign	0.00
R8127:Dzank1	UTSW	2	144,330,736 (GRCm39)	missense	probably damaging	1.00
R8192:Dzank1	UTSW	2	144,332,145 (GRCm39)	missense	probably benign	0.05
R8314:Dzank1	UTSW	2	144,344,878 (GRCm39)	missense	probably damaging	1.00
R8944:Dzank1	UTSW	2	144,333,729 (GRCm39)	missense	probably benign	0.00
R9025:Dzank1	UTSW	2	144,318,012 (GRCm39)	missense	probably benign	0.04
R9096:Dzank1	UTSW	2	144,316,882 (GRCm39)	missense	possibly damaging	0.62
R9097:Dzank1	UTSW	2	144,316,882 (GRCm39)	missense	possibly damaging	0.62
R9108:Dzank1	UTSW	2	144,364,391 (GRCm39)	missense	probably benign	0.00
R9261:Dzank1	UTSW	2	144,355,344 (GRCm39)	missense	probably benign	0.20
R9410:Dzank1	UTSW	2	144,324,050 (GRCm39)	critical splice donor site	probably null
R9418:Dzank1	UTSW	2	144,355,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAATGGCTAATGCTGACC -3'
(R):5'- CCCTAAACCTTCTTAGCTGGAAG -3'

Sequencing Primer
(F):5'- CACAATGGCTAATGCTGACCTTAATC -3'
(R):5'- CTTTTCCAGCTTAAAATAGCACAC -3'

Posted On

2014-12-04