Mutagenetix > Incidental Mutation

Incidental Mutation 'R5763:Zik1'

446114

Institutional Source

Beutler Lab

Gene Symbol

Zik1

Ensembl Gene

ENSMUSG00000030393

Gene Name

zinc finger protein interacting with K protein 1

Synonyms

MMRRC Submission

043364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10221151-10229308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10226293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 25 (H25N)

Ref Sequence

ENSEMBL: ENSMUSP00000032551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032551]

AlphaFold

Q80YP6

Predicted Effect

probably benign
Transcript: ENSMUST00000032551
AA Change: H25N

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032551
Gene: ENSMUSG00000030393
AA Change: H25N

Domain	Start	End	E-Value	Type
KRAB	14	74	1.41e-9	SMART
ZnF_C2H2	215	237	1.3e-4	SMART
ZnF_C2H2	243	265	1.56e-2	SMART
ZnF_C2H2	271	293	7.37e-4	SMART
ZnF_C2H2	299	321	5.67e-5	SMART
ZnF_C2H2	327	349	3.89e-3	SMART
ZnF_C2H2	355	377	6.52e-5	SMART
ZnF_C2H2	383	405	4.54e-4	SMART
ZnF_C2H2	411	433	1.84e-4	SMART
ZnF_C2H2	439	461	8.67e-1	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,670,768 (GRCm39)	H330R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Actl6b	T	A	5: 137,565,063 (GRCm39)	L314Q	possibly damaging	Het
Adam22	A	T	5: 8,184,544 (GRCm39)	C483S	probably damaging	Het
Adamts7	T	A	9: 90,070,462 (GRCm39)	L601H	probably damaging	Het
Agl	A	T	3: 116,547,009 (GRCm39)	D1280E	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Astn2	T	A	4: 65,647,568 (GRCm39)	M757L	probably benign	Het
Atr	A	G	9: 95,827,176 (GRCm39)	M2407V	probably benign	Het
Brca2	T	C	5: 150,471,471 (GRCm39)	F2283L	possibly damaging	Het
Brwd1	A	T	16: 95,835,043 (GRCm39)	Y940*	probably null	Het
Camk2g	A	T	14: 20,789,415 (GRCm39)	N218K	probably damaging	Het
Ces2a	C	T	8: 105,462,756 (GRCm39)	P115L	probably benign	Het
Col11a1	T	C	3: 113,888,245 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,515,682 (GRCm39)	D150E	unknown	Het
Crybg3	A	G	16: 59,374,973 (GRCm39)	S2094P	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Ddx24	A	G	12: 103,383,673 (GRCm39)	F593L	probably damaging	Het
Dhx16	G	A	17: 36,192,580 (GRCm39)	E171K	possibly damaging	Het
Dnah5	T	C	15: 28,311,298 (GRCm39)	I1759T	probably damaging	Het
Dnah9	C	A	11: 65,846,065 (GRCm39)	S2991I	probably damaging	Het
Entpd7	G	T	19: 43,692,705 (GRCm39)	V87L	probably damaging	Het
Fam221a	T	G	6: 49,355,518 (GRCm39)	L207V	probably damaging	Het
Foxm1	T	A	6: 128,343,071 (GRCm39)	I135N	probably benign	Het
Gabpa	C	A	16: 84,657,297 (GRCm39)	Q391K	possibly damaging	Het
Gipr	T	A	7: 18,897,475 (GRCm39)	H111L	probably damaging	Het
Gmip	A	G	8: 70,270,501 (GRCm39)	D737G	probably damaging	Het
Herc6	T	A	6: 57,639,872 (GRCm39)	N995K	probably damaging	Het
Ldha	G	A	7: 46,497,213 (GRCm39)		probably benign	Het
Lrrc37	G	A	11: 103,504,469 (GRCm39)	P324S	probably damaging	Het
Masp1	T	C	16: 23,314,997 (GRCm39)	E88G	probably damaging	Het
Mical2	G	A	7: 111,973,861 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,979,587 (GRCm39)	V18E	probably benign	Het
Mrgpra3	A	T	7: 47,239,355 (GRCm39)	C190*	probably null	Het
Nog	C	T	11: 89,192,291 (GRCm39)	V186M	probably damaging	Het
Nrxn2	T	C	19: 6,581,369 (GRCm39)	F392L	probably benign	Het
Or11h7	T	C	14: 50,891,525 (GRCm39)	I277T	possibly damaging	Het
Or12j3	T	A	7: 139,953,568 (GRCm39)		probably null	Het
Or1e33	T	A	11: 73,738,693 (GRCm39)	Q86L	probably benign	Het
Or4a79	T	A	2: 89,552,372 (GRCm39)	M28L	probably benign	Het
Or7c74	T	C	2: 37,161,025 (GRCm39)		noncoding transcript	Het
Phyhd1	T	A	2: 30,169,983 (GRCm39)	D158E	probably damaging	Het
Pik3r4	G	T	9: 105,546,974 (GRCm39)	K917N	probably benign	Het
Pnma1	A	G	12: 84,194,124 (GRCm39)	V193A	possibly damaging	Het
Podxl2	T	C	6: 88,826,805 (GRCm39)	E167G	probably damaging	Het
Prss50	A	T	9: 110,691,517 (GRCm39)	K82*	probably null	Het
Qsox1	A	G	1: 155,655,625 (GRCm39)	S513P	probably benign	Het
Rheb	A	G	5: 25,012,785 (GRCm39)	V98A	probably benign	Het
Rhoj	A	G	12: 75,438,606 (GRCm39)	I131V	probably benign	Het
Rsph4a	A	T	10: 33,781,684 (GRCm39)	D178V	probably damaging	Het
Setd2	T	G	9: 110,385,343 (GRCm39)		probably null	Het
Siglecf	A	T	7: 43,005,744 (GRCm39)	K434*	probably null	Het
Slc14a1	T	C	18: 78,159,629 (GRCm39)	Y88C	probably benign	Het
Snx15	T	C	19: 6,172,140 (GRCm39)	E89G	probably damaging	Het
Son	C	T	16: 91,454,378 (GRCm39)	R1042C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Suz12	C	A	11: 79,916,134 (GRCm39)	Y457*	probably null	Het
Tet1	T	A	10: 62,675,847 (GRCm39)	N743I	probably damaging	Het
Tmc6	A	G	11: 117,660,259 (GRCm39)	F660L	possibly damaging	Het
Tnpo1	A	C	13: 98,996,445 (GRCm39)	I452S	possibly damaging	Het
Trav4-3	G	T	14: 53,836,844 (GRCm39)	G103V	probably damaging	Het
Ubap2	T	C	4: 41,195,809 (GRCm39)	K994E	probably damaging	Het
Vmn2r14	T	C	5: 109,363,724 (GRCm39)	T731A	possibly damaging	Het
Vmn2r52	T	A	7: 9,905,231 (GRCm39)	I203L	probably benign	Het
Zfp663	G	T	2: 165,200,355 (GRCm39)	S75*	probably null	Het

Other mutations in Zik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4791001:Zik1	UTSW	7	10,226,256 (GRCm39)	missense	probably benign	0.01
R1105:Zik1	UTSW	7	10,224,312 (GRCm39)	missense	probably damaging	1.00
R1106:Zik1	UTSW	7	10,224,312 (GRCm39)	missense	probably damaging	1.00
R1107:Zik1	UTSW	7	10,224,312 (GRCm39)	missense	probably damaging	1.00
R1108:Zik1	UTSW	7	10,224,312 (GRCm39)	missense	probably damaging	1.00
R1533:Zik1	UTSW	7	10,224,053 (GRCm39)	missense	possibly damaging	0.90
R1671:Zik1	UTSW	7	10,224,675 (GRCm39)	missense	probably damaging	0.99
R1713:Zik1	UTSW	7	10,224,311 (GRCm39)	missense	possibly damaging	0.89
R1718:Zik1	UTSW	7	10,226,269 (GRCm39)	nonsense	probably null
R1718:Zik1	UTSW	7	10,226,268 (GRCm39)	missense	probably damaging	0.97
R1921:Zik1	UTSW	7	10,223,943 (GRCm39)	missense	probably damaging	1.00
R4356:Zik1	UTSW	7	10,224,268 (GRCm39)	nonsense	probably null
R4466:Zik1	UTSW	7	10,224,893 (GRCm39)	missense	probably benign	0.09
R5950:Zik1	UTSW	7	10,224,498 (GRCm39)	nonsense	probably null
R8006:Zik1	UTSW	7	10,224,100 (GRCm39)	nonsense	probably null
R8145:Zik1	UTSW	7	10,223,930 (GRCm39)	missense	probably damaging	0.97
R8754:Zik1	UTSW	7	10,223,826 (GRCm39)	missense	probably damaging	0.99
R9245:Zik1	UTSW	7	10,224,156 (GRCm39)	missense	probably damaging	1.00
R9387:Zik1	UTSW	7	10,224,623 (GRCm39)	missense	probably damaging	1.00
R9759:Zik1	UTSW	7	10,223,716 (GRCm39)	missense	possibly damaging	0.65
Y4336:Zik1	UTSW	7	10,224,312 (GRCm39)	missense	probably damaging	1.00
Y4338:Zik1	UTSW	7	10,224,312 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCAGCGCTATCACACATAAC -3'
(R):5'- TTGTTACCAGAGGTAGTGGGAC -3'

Sequencing Primer
(F):5'- GCGCTATCACACATAACATATATACC -3'
(R):5'- CAGAGGTAGTGGGACTGGATATTGC -3'

Posted On

2016-11-21