Mutagenetix > Incidental Mutations

Incidental Mutation 'R0324:Zkscan1'

26347

Institutional Source

Beutler Lab

Gene Symbol

Zkscan1

Ensembl Gene

ENSMUSG00000029729

Gene Name

zinc finger with KRAB and SCAN domains 1

Synonyms

9230118B16Rik, KOX18, 9130423L19Rik, 5930429A01Rik

MMRRC Submission

038534-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R0324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138085084-138107822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138097523 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 246 (R246Q)

Ref Sequence

ENSEMBL: ENSMUSP00000019660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019660] [ENSMUST00000066617] [ENSMUST00000110962] [ENSMUST00000110963]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019660
AA Change: R246Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: R246Q

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
SCAN	52	162	1.5e-75	SMART
KRAB	225	285	5.7e-8	SMART
low complexity region	300	314	N/A	INTRINSIC
low complexity region	316	337	N/A	INTRINSIC
ZnF_C2H2	375	397	1.3e-5	SMART
ZnF_C2H2	403	425	7.3e-6	SMART
ZnF_C2H2	431	453	5.6e-6	SMART
ZnF_C2H2	459	481	4e-7	SMART
ZnF_C2H2	487	509	3.8e-6	SMART
ZnF_C2H2	515	537	5.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066617

SMART Domains

Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
SCAN	52	162	4.62e-73	SMART
low complexity region	227	241	N/A	INTRINSIC
low complexity region	243	264	N/A	INTRINSIC
ZnF_C2H2	302	324	2.95e-3	SMART
ZnF_C2H2	330	352	1.69e-3	SMART
ZnF_C2H2	358	380	1.28e-3	SMART
ZnF_C2H2	386	408	9.22e-5	SMART
ZnF_C2H2	414	436	9.08e-4	SMART
ZnF_C2H2	442	464	1.28e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110962

SMART Domains

Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
SCAN	52	162	4.62e-73	SMART
low complexity region	227	241	N/A	INTRINSIC
low complexity region	243	264	N/A	INTRINSIC
ZnF_C2H2	302	324	2.95e-3	SMART
ZnF_C2H2	330	352	1.69e-3	SMART
ZnF_C2H2	358	380	1.28e-3	SMART
ZnF_C2H2	386	408	9.22e-5	SMART
ZnF_C2H2	414	436	9.08e-4	SMART
ZnF_C2H2	442	464	1.28e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110963

SMART Domains

Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
SCAN	52	162	4.62e-73	SMART
low complexity region	227	241	N/A	INTRINSIC
low complexity region	243	264	N/A	INTRINSIC
ZnF_C2H2	302	324	2.95e-3	SMART
ZnF_C2H2	330	352	1.69e-3	SMART
ZnF_C2H2	358	380	1.28e-3	SMART
ZnF_C2H2	386	408	9.22e-5	SMART
ZnF_C2H2	414	436	9.08e-4	SMART
ZnF_C2H2	442	464	1.28e-3	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,001,157	L357S	probably benign	Het
1700129C05Rik	C	T	14: 59,142,807	R14H	probably damaging	Het
4933417A18Rik	A	G	13: 34,924,613	N26S	probably benign	Het
Aatf	A	G	11: 84,512,139		probably null	Het
Abca13	T	A	11: 9,297,669	M2472K	possibly damaging	Het
Abcd3	C	A	3: 121,769,167	Q540H	probably null	Het
Adam17	C	T	12: 21,349,938	V156I	probably benign	Het
Adam26a	A	G	8: 43,568,453	S667P	probably benign	Het
Adcy10	A	G	1: 165,564,249	K1333E	probably benign	Het
Apob	G	A	12: 8,010,521	R2968Q	probably benign	Het
Arap3	G	A	18: 37,973,225	P1522S	possibly damaging	Het
Catsper1	A	T	19: 5,336,545	S269C	probably damaging	Het
Cd209d	A	T	8: 3,878,258	S42R	probably benign	Het
Cntln	T	A	4: 85,092,695	V1049E	probably damaging	Het
Cracr2b	T	C	7: 141,463,746	F87L	probably damaging	Het
Crb3	T	C	17: 57,065,133	L60P	probably damaging	Het
Crispld1	T	C	1: 17,749,591	V271A	probably benign	Het
Cyp2c66	G	T	19: 39,176,691	R372L	probably benign	Het
Ddx58	T	C	4: 40,213,766	T586A	probably benign	Het
Deup1	G	A	9: 15,582,533	R438W	probably benign	Het
Dnah6	C	T	6: 73,173,558	E741K	possibly damaging	Het
Epha4	T	C	1: 77,383,551	E703G	probably damaging	Het
Evc2	G	A	5: 37,393,099	R819H	probably damaging	Het
Fam217a	A	C	13: 34,910,961	C272G	possibly damaging	Het
Fndc7	T	C	3: 108,876,699		probably null	Het
Foxs1	C	T	2: 152,932,687	G149S	probably benign	Het
Galnt13	T	C	2: 54,854,616	V109A	probably benign	Het
Hmgxb4	G	A	8: 74,998,928	M7I	probably benign	Het
Klk1b1	T	A	7: 43,970,741	C209*	probably null	Het
Klra10	A	G	6: 130,272,650		probably null	Het
Kntc1	A	T	5: 123,778,112	K701N	probably damaging	Het
Lpgat1	T	A	1: 191,749,642	L114Q	probably damaging	Het
Mecom	T	A	3: 29,963,112	Q468L	probably damaging	Het
Med15	T	C	16: 17,697,612	T70A	probably damaging	Het
Msh6	T	A	17: 87,986,620	Y934*	probably null	Het
Mtus1	T	C	8: 41,084,395	T95A	probably benign	Het
Mylk3	C	A	8: 85,352,906	R444S	probably damaging	Het
Nbea	A	G	3: 56,057,948		probably null	Het
Nbeal1	T	C	1: 60,292,873	V2242A	probably damaging	Het
Nhp2	A	G	11: 51,622,507	T85A	possibly damaging	Het
Nlk	A	G	11: 78,572,431	S413P	possibly damaging	Het
Nmbr	A	G	10: 14,760,448	I54V	possibly damaging	Het
Nmur2	A	T	11: 56,040,520	C122S	probably damaging	Het
Nudt13	G	T	14: 20,311,515	V220L	probably damaging	Het
Olfr1025-ps1	G	A	2: 85,917,951	V9M	probably benign	Het
Pclo	G	A	5: 14,669,433	G1195R	unknown	Het
Pcsk7	A	G	9: 45,913,011	H276R	possibly damaging	Het
Pdss2	T	C	10: 43,393,928	S256P	probably damaging	Het
Pgf	G	T	12: 85,171,424	H116N	probably benign	Het
Pglyrp2	T	C	17: 32,418,328	D242G	probably benign	Het
Plk2	G	A	13: 110,397,708	R274K	probably benign	Het
Ppp6r3	G	T	19: 3,464,693	P141T	probably benign	Het
Prss54	T	C	8: 95,565,667	T95A	probably benign	Het
Rab3il1	A	G	19: 10,028,289	D149G	probably damaging	Het
Rasgef1c	T	C	11: 49,961,230		probably null	Het
Rhpn1	T	C	15: 75,711,588	M334T	probably damaging	Het
Robo2	C	T	16: 73,967,851	V630M	probably damaging	Het
Rptor	C	T	11: 119,892,641	R1154W	probably damaging	Het
Scnn1g	A	G	7: 121,740,555	I192M	possibly damaging	Het
Sit1	G	A	4: 43,482,815	Q115*	probably null	Het
Slc13a2	T	C	11: 78,404,524	N141S	probably damaging	Het
Slc19a2	C	A	1: 164,256,775	T78K	probably damaging	Het
Snx14	A	G	9: 88,405,238		probably null	Het
Stil	T	A	4: 115,039,149	C944S	probably benign	Het
Tnfaip2	A	G	12: 111,453,459	N675S	probably damaging	Het
Trim30c	A	G	7: 104,383,309	I270T	possibly damaging	Het
Ugt2a3	C	T	5: 87,327,073		probably null	Het
Vmn1r213	A	T	13: 23,011,418		probably benign	Het
Vmn2r8	A	C	5: 108,797,941		probably null	Het
Vps13c	T	C	9: 67,964,309	F3253L	possibly damaging	Het
Zbtb16	G	T	9: 48,665,275	Q502K	possibly damaging	Het
Zfp143	A	G	7: 110,077,147	K218E	possibly damaging	Het
Zfp946	A	G	17: 22,454,436	N57S	probably benign	Het
Zfp985	T	C	4: 147,582,857	Y61H	probably benign	Het
Zpld1	A	G	16: 55,251,615	F94L	probably damaging	Het
Zswim5	G	T	4: 116,986,906	W1047L	probably damaging	Het

Other mutations in Zkscan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03172:Zkscan1	APN	5	138094002	missense	probably benign	0.00
R0078:Zkscan1	UTSW	5	138093101	missense	probably damaging	1.00
R0206:Zkscan1	UTSW	5	138101186	missense	probably damaging	1.00
R0206:Zkscan1	UTSW	5	138101186	missense	probably damaging	1.00
R0503:Zkscan1	UTSW	5	138093326	missense	probably damaging	0.99
R0940:Zkscan1	UTSW	5	138093170	missense	probably damaging	1.00
R1879:Zkscan1	UTSW	5	138097148	missense	probably damaging	1.00
R1926:Zkscan1	UTSW	5	138101363	missense	probably benign	0.33
R3749:Zkscan1	UTSW	5	138101441	missense	probably damaging	0.99
R5045:Zkscan1	UTSW	5	138100920	missense	probably damaging	1.00
R5391:Zkscan1	UTSW	5	138097101	missense	probably benign
R6339:Zkscan1	UTSW	5	138093305	missense	probably damaging	1.00
R6936:Zkscan1	UTSW	5	138093305	missense	probably damaging	1.00
R7178:Zkscan1	UTSW	5	138100930	missense	probably damaging	0.99
Z1177:Zkscan1	UTSW	5	138100907	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTGCTTATGATGCCCAGCCTAC -3'
(R):5'- GCAGAAAGAATCCTCCCAGGTGAC -3'

Sequencing Primer
(F):5'- CATAACCCCTTCAGTCTATCAGG -3'
(R):5'- GAATCCTCCCAGGTGACTGAATG -3'

Posted On

2013-04-16