Mutagenetix > Incidental Mutation

Incidental Mutation 'R4466:Zik1'

330350

Institutional Source

Beutler Lab

Gene Symbol

Zik1

Ensembl Gene

ENSMUSG00000030393

Gene Name

zinc finger protein interacting with K protein 1

Synonyms

MMRRC Submission

041723-MU

Accession Numbers

Essential gene?

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

Stock #

R4466 (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 10224893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 68 (T68K)

Ref Sequence

ENSEMBL: ENSMUSP00000032551 (fasta)

Gene Model

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

AlphaFold

Q80YP6

Predicted Effect

probably benign
Transcript: ENSMUST00000032551
AA Change: T68K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032551
Gene: ENSMUSG00000030393
AA Change: T68K

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,745,887 (GRCm39)		noncoding transcript	Het
Adgra1	T	A	7: 139,420,752 (GRCm39)		probably benign	Het
Akap13	T	A	7: 75,252,521 (GRCm39)		probably null	Het
Amn1	T	C	6: 149,068,343 (GRCm39)		probably null	Het
Ano5	T	A	7: 51,220,023 (GRCm39)	F374I	probably damaging	Het
Apol7c	T	C	15: 77,410,664 (GRCm39)	E94G	probably benign	Het
Arid4b	A	T	13: 14,307,095 (GRCm39)	S117C	probably damaging	Het
Atm	C	A	9: 53,359,469 (GRCm39)	E2778*	probably null	Het
Cped1	A	T	6: 22,123,651 (GRCm39)	Q468L	probably benign	Het
Crygb	A	G	1: 65,119,645 (GRCm39)	S112P	probably damaging	Het
Eeig2	T	A	3: 108,887,124 (GRCm39)	R291S	probably benign	Het
Eml4	C	T	17: 83,729,103 (GRCm39)	Q93*	probably null	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fhad1	A	T	4: 141,684,969 (GRCm39)	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,300,614 (GRCm39)		probably null	Het
Gm5134	G	C	10: 75,844,409 (GRCm39)	K588N	probably benign	Het
Gpr21	A	G	2: 37,407,570 (GRCm39)	T39A	probably benign	Het
Irx1	C	A	13: 72,108,101 (GRCm39)	G194W	probably damaging	Het
Itgal	C	T	7: 126,927,684 (GRCm39)	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,325,316 (GRCm39)	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,370,328 (GRCm39)	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,776,018 (GRCm39)	D180G	probably damaging	Het
M6pr	A	G	6: 122,290,228 (GRCm39)	T64A	probably benign	Het
Mrpl47	G	A	3: 32,784,240 (GRCm39)	R177*	probably null	Het
Mtfr2	A	G	10: 20,224,159 (GRCm39)	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000 (GRCm39)	I31T	probably damaging	Het
Oas2	A	G	5: 120,887,667 (GRCm39)	S58P	probably damaging	Het
Or1j11	A	T	2: 36,312,308 (GRCm39)	R299S	probably benign	Het
Or5b124	G	A	19: 13,610,801 (GRCm39)	E109K	probably damaging	Het
Or8b36	T	A	9: 37,937,479 (GRCm39)	C126S	probably damaging	Het
Polr1b	A	T	2: 128,965,802 (GRCm39)	I815L	probably benign	Het
Psma8	T	C	18: 14,854,231 (GRCm39)	I37T	possibly damaging	Het
Ryr3	T	C	2: 112,483,447 (GRCm39)	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,204,182 (GRCm39)		probably benign	Het
Serpina3m	A	T	12: 104,357,874 (GRCm39)	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,559,023 (GRCm39)	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,299,688 (GRCm39)	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,146,099 (GRCm39)		probably benign	Het
Smyd2	A	G	1: 189,614,349 (GRCm39)	M393T	probably benign	Het
Sox8	C	A	17: 25,787,879 (GRCm39)	G190V	probably benign	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stk35	C	A	2: 129,643,436 (GRCm39)	T140K	probably damaging	Het
Taf6	A	C	5: 138,179,463 (GRCm39)		probably benign	Het
Ten1	A	C	11: 116,095,823 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttn	A	G	2: 76,544,044 (GRCm39)	F32981L	probably damaging	Het
Zzef1	T	A	11: 72,815,485 (GRCm39)	I2935N	probably damaging	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
R5763:Zik1	UTSW	7	10,226,293 (GRCm39)	missense	probably benign	0.18
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'- ACTTTGCTGACAGGTAGAACAG -3'
(R):5'- GACCCGATGTTTCCATGCAG -3'

Sequencing Primer
(F):5'- GGTATGAAGACCTGTCAGCATTC -3'
(R):5'- GATGTTTCCATGCAGATCCTTC -3'

Posted On

2015-07-21