Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4791001:Zik1'

556968

Institutional Source

Beutler Lab

Gene Symbol

Zik1

Ensembl Gene

ENSMUSG00000030393

Gene Name

zinc finger protein interacting with K protein 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

PIT4791001 (G1)

Quality Score

182.009

Status

Not validated

Chromosome

Chromosomal Location

10221151-10229308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 10226256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 37 (L37R)

Ref Sequence

ENSEMBL: ENSMUSP00000032551 (fasta)

Gene Model

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

AlphaFold

Q80YP6

Predicted Effect

probably benign
Transcript: ENSMUST00000032551
AA Change: L37R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032551
Gene: ENSMUSG00000030393
AA Change: L37R

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

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 83.3%
20x: 68.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	G	A	15: 72,993,089 (GRCm39)	T472I	possibly damaging	Het
Ambp	T	A	4: 63,072,298 (GRCm39)		probably benign	Het
As3mt	T	A	19: 46,708,788 (GRCm39)	F261I	probably damaging	Het
Atxn1l	A	G	8: 110,458,579 (GRCm39)	L561P	probably damaging	Het
Cnr2	A	G	4: 135,644,263 (GRCm39)	T114A	probably damaging	Het
Dchs1	A	G	7: 105,408,178 (GRCm39)	Y1885H	probably damaging	Het
Dcn	A	G	10: 97,343,604 (GRCm39)	N188S	probably benign	Het
Dennd6b	A	C	15: 89,070,955 (GRCm39)		probably null	Het
Dstyk	A	G	1: 132,377,665 (GRCm39)	T424A	probably benign	Het
Gabrr3	A	G	16: 59,250,298 (GRCm39)		probably null	Het
Gnai3	A	G	3: 108,025,621 (GRCm39)	S153P	probably benign	Het
Igkv2-112	T	A	6: 68,197,599 (GRCm39)	S90R	probably damaging	Het
Lxn	T	C	3: 67,365,979 (GRCm39)	D173G	probably damaging	Het
Mcm3ap	T	A	10: 76,342,307 (GRCm39)	I1600N	probably damaging	Het
Myof	A	T	19: 37,971,406 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,762,931 (GRCm39)		probably benign	Het
Oaz3	A	G	3: 94,340,852 (GRCm39)	Y232H	unknown	Het
Or5aq1b	A	T	2: 86,902,046 (GRCm39)	M144K	possibly damaging	Het
Pkdcc	C	T	17: 83,527,577 (GRCm39)	R252*	probably null	Het
Plcl1	A	G	1: 55,741,090 (GRCm39)	N907S	probably benign	Het
Plscr1	T	A	9: 92,145,150 (GRCm39)	Y53*	probably null	Het
Pm20d2	T	C	4: 33,174,756 (GRCm39)	T377A	probably benign	Het
Ptchd3	T	A	11: 121,722,875 (GRCm39)	V321D	probably damaging	Het
Ranbp3l	T	C	15: 9,060,829 (GRCm39)	I366T	probably damaging	Het
Sardh	T	C	2: 27,087,660 (GRCm39)	E737G	probably damaging	Het
Scart2	T	C	7: 139,853,975 (GRCm39)	F326S	possibly damaging	Het
Scn1a	T	C	2: 66,103,626 (GRCm39)	E1878G	probably benign	Het
Slit3	T	C	11: 35,552,072 (GRCm39)	V872A	possibly damaging	Het
Sugp2	C	T	8: 70,713,195 (GRCm39)	Q1054*	probably null	Het
Syne3	T	C	12: 104,929,438 (GRCm39)	T261A	probably benign	Het
Tgif2	T	C	2: 156,695,232 (GRCm39)	S126P	probably benign	Het
Ticrr	T	C	7: 79,319,386 (GRCm39)	V457A	possibly damaging	Het
Tm7sf2	T	C	19: 6,113,635 (GRCm39)	I299V	probably benign	Het
Tnks1bp1	A	G	2: 84,892,902 (GRCm39)	E943G	probably benign	Het
Tpd52l2	T	A	2: 181,141,681 (GRCm39)	F21L	probably benign	Het
Tpm2	A	G	4: 43,519,263 (GRCm39)	L176P	probably benign	Het
Trim34a	C	A	7: 103,909,691 (GRCm39)	T293K	probably benign	Het
Ttc23	A	T	7: 67,312,135 (GRCm39)	D14V	probably damaging	Het
Twsg1	T	C	17: 66,236,706 (GRCm39)	E108G	probably benign	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Vmn1r183	A	G	7: 23,754,266 (GRCm39)	Q23R	probably damaging	Het
Vmn1r31	A	G	6: 58,449,028 (GRCm39)	V279A	probably damaging	Het
Vmo1	A	C	11: 70,404,661 (GRCm39)	C113W	probably damaging	Het
Zfp984	A	G	4: 147,840,603 (GRCm39)	S83P	probably benign	Het

Other mutations in Zik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- ACACAGTTCAGCGCTATCAC -3'
(R):5'- TTACCAGAGGTAGTGGGACTG -3'

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

Posted On

2019-06-07