Mutagenetix > Incidental Mutation

Incidental Mutation 'R9025:Dzank1'

686460

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

068854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9025 (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 144318012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 718 (S718G)

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: S718G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: S718G

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: S719G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: S719G

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,534,545 (GRCm39)	N837K	possibly damaging	Het
Adam29	A	T	8: 56,325,196 (GRCm39)	C419*	probably null	Het
Adamts7	C	A	9: 90,067,848 (GRCm39)	S446*	probably null	Het
Ager	A	G	17: 34,819,594 (GRCm39)	R371G	probably damaging	Het
Apobr	T	A	7: 126,185,629 (GRCm39)	V380E	possibly damaging	Het
Arhgap26	T	C	18: 39,379,898 (GRCm39)	S105P		Het
Atrip	A	G	9: 108,902,906 (GRCm39)	F56S	probably damaging	Het
Bag2	T	C	1: 33,785,905 (GRCm39)	Y139C		Het
Bccip	C	T	7: 133,319,346 (GRCm39)	Q146*	probably null	Het
Btbd10	G	A	7: 112,951,031 (GRCm39)	R20W	possibly damaging	Het
Catsperd	T	A	17: 56,962,156 (GRCm39)	N443K	probably damaging	Het
Cdh26	G	A	2: 178,104,409 (GRCm39)	E265K	probably benign	Het
Cep76	T	C	18: 67,767,885 (GRCm39)	R216G	probably damaging	Het
Cgas	C	A	9: 78,349,787 (GRCm39)	V192L	probably benign	Het
Cnot1	T	A	8: 96,475,660 (GRCm39)	M1000L	probably benign	Het
Cyp1a1	A	G	9: 57,610,070 (GRCm39)	T495A	possibly damaging	Het
Cyp2w1	T	A	5: 139,342,470 (GRCm39)	M421K	probably benign	Het
Dlg5	T	C	14: 24,199,546 (GRCm39)	T1453A	probably benign	Het
Dnah5	G	T	15: 28,409,412 (GRCm39)	W3610L	probably damaging	Het
Dnah9	T	C	11: 65,896,651 (GRCm39)	D2391G	probably damaging	Het
Dnajc10	G	A	2: 80,179,637 (GRCm39)	G724R	probably damaging	Het
Dst	T	A	1: 34,227,585 (GRCm39)	I1726N	possibly damaging	Het
Dync2h1	A	T	9: 7,139,462 (GRCm39)	L1391*	probably null	Het
E230025N22Rik	T	C	18: 36,819,890 (GRCm39)	D300G	probably damaging	Het
Ebf3	T	C	7: 136,914,098 (GRCm39)	I131V	possibly damaging	Het
Eif3g	T	C	9: 20,807,426 (GRCm39)	I131V	probably benign	Het
Eppk1	T	A	15: 75,990,503 (GRCm39)	Q2126L	possibly damaging	Het
Fam83h	T	C	15: 75,874,182 (GRCm39)	R1052G	probably benign	Het
Fry	A	T	5: 150,219,273 (GRCm39)		probably benign	Het
Ggt6	C	T	11: 72,328,123 (GRCm39)	H208Y	possibly damaging	Het
Gm15821	T	A	17: 34,433,235 (GRCm39)	E28V	unknown	Het
Gprin2	T	C	14: 33,916,957 (GRCm39)	Q271R	probably damaging	Het
Gsdmd	T	C	15: 75,739,053 (GRCm39)	F477L	probably benign	Het
Hes7	T	C	11: 69,013,782 (GRCm39)	S214P	probably benign	Het
Hmcn2	A	G	2: 31,347,967 (GRCm39)	H4871R	possibly damaging	Het
Il15ra	G	A	2: 11,723,233 (GRCm39)	V86I	possibly damaging	Het
Il17rb	C	A	14: 29,724,857 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnab2	T	C	4: 152,491,635 (GRCm39)	Y63C	probably damaging	Het
Kctd17	A	T	15: 78,314,282 (GRCm39)	Y84F	probably damaging	Het
Lama1	T	A	17: 68,119,491 (GRCm39)	V2656E		Het
Lama2	T	C	10: 26,860,367 (GRCm39)	N3040S	probably benign	Het
Ldha	C	T	7: 46,500,433 (GRCm39)	R173C	unknown	Het
Lig1	A	G	7: 13,037,746 (GRCm39)	I665M	probably damaging	Het
Lipe	G	A	7: 25,083,923 (GRCm39)	A412V	probably damaging	Het
Lrrc63	T	C	14: 75,322,284 (GRCm39)	T607A	probably benign	Het
Majin	G	A	19: 6,263,427 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,758,175 (GRCm39)	L335P	probably benign	Het
Map3k9	A	G	12: 81,819,507 (GRCm39)	L249P	probably damaging	Het
Muc5b	G	T	7: 141,426,209 (GRCm39)	D4769Y	probably damaging	Het
Myh9	T	C	15: 77,653,192 (GRCm39)	T1382A	probably benign	Het
Nedd4l	T	A	18: 65,311,995 (GRCm39)	D407E	probably damaging	Het
Ngp	A	G	9: 110,251,451 (GRCm39)	I160V	possibly damaging	Het
Nmrk1	A	G	19: 18,617,156 (GRCm39)		probably benign	Het
Nnmt	C	A	9: 48,503,461 (GRCm39)	K188N	probably damaging	Het
Nup153	T	A	13: 46,837,709 (GRCm39)	Q1171L	probably benign	Het
Oplah	T	A	15: 76,187,417 (GRCm39)	E556V	probably benign	Het
Or9g3	T	G	2: 85,589,879 (GRCm39)	L280F	possibly damaging	Het
Otog	A	G	7: 45,937,520 (GRCm39)	D1743G	probably benign	Het
Otogl	T	C	10: 107,613,432 (GRCm39)	Y2011C	probably damaging	Het
Pbx4	C	T	8: 70,317,097 (GRCm39)	P118L	probably benign	Het
Plekha6	T	A	1: 133,212,999 (GRCm39)	S757T	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Polr3a	C	T	14: 24,519,479 (GRCm39)	S643N	probably damaging	Het
Pwp1	T	A	10: 85,718,745 (GRCm39)	L304Q	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,644,736 (GRCm39)	F350L	probably benign	Het
Safb2	T	C	17: 56,873,614 (GRCm39)	E683G	probably damaging	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Serpina3k	A	G	12: 104,307,230 (GRCm39)	E154G	probably damaging	Het
Sgsm3	T	A	15: 80,892,182 (GRCm39)	V250D	probably damaging	Het
Slit1	T	A	19: 41,612,968 (GRCm39)	I851F	probably benign	Het
Spag4	G	A	2: 155,910,424 (GRCm39)	G350E	probably damaging	Het
Sult2a7	A	T	7: 14,225,755 (GRCm39)	L77Q	probably damaging	Het
Tbc1d2	T	A	4: 46,607,062 (GRCm39)	T783S	probably damaging	Het
Thoc6	T	C	17: 23,888,862 (GRCm39)	E182G		Het
Tmem132a	A	T	19: 10,837,525 (GRCm39)	I595N	probably damaging	Het
Trim69	A	G	2: 122,003,771 (GRCm39)	N240S	probably benign	Het
Ush1c	A	T	7: 45,846,614 (GRCm39)		probably benign	Het
Wnk4	T	G	11: 101,153,641 (GRCm39)	Y234*	probably null	Het
Zfp943	A	G	17: 22,211,321 (GRCm39)	N136D	possibly damaging	Het
Znhit2	G	A	19: 6,111,669 (GRCm39)	R138H	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
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
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'- AATTGCCTGCCCTAGTCATTTG -3'
(R):5'- CAGCTGGTACCTGTCACCAAAC -3'

Sequencing Primer
(F):5'- GTCATTTGTCCCAACTGCATCAAAG -3'
(R):5'- AACCTGAGGACCCATGCTGTTC -3'

Posted On

2021-10-11