Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Dzank1'

702227

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

068990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144312477-144369334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144355344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 117 (E117G)

Ref Sequence

ENSEMBL: ENSMUSP00000080643 (fasta)

Gene Model

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

AlphaFold

Q8C008

Predicted Effect

probably benign
Transcript: ENSMUST00000081982
AA Change: E117G

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: E117G

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

probably benign
Transcript: ENSMUST00000163701
AA Change: E117G

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: E117G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	probably benign	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
R2761:Dzank1	UTSW	2	144,355,369 (GRCm39)	missense	probably benign
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
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'- GTGCTGAGTCAGAATTCTGGTC -3'
(R):5'- AGGAACTTCAGTATCATAACTGCTAGC -3'

Sequencing Primer
(F):5'- CTGGTCTTAGAAGAAGGCTTAACC -3'
(R):5'- AGTATCATAACTGCTAGCTACCTC -3'

Posted On

2022-03-25