Mutagenetix > Incidental Mutation

Incidental Mutation 'R0503:Zkscan1'

47248

Institutional Source

Beutler Lab

Gene Symbol

Zkscan1

Ensembl Gene

ENSMUSG00000029729

Gene Name

zinc finger with KRAB and SCAN domains 1

Synonyms

5930429A01Rik, KOX18, 9130423L19Rik, 9230118B16Rik

MMRRC Submission

038698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138083346-138106084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138091588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 107 (I107N)

Ref Sequence

ENSEMBL: ENSMUSP00000106588 (fasta)

Gene Model

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

AlphaFold

Q8BGS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000019660
AA Change: I107N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: I107N

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 damaging
Transcript: ENSMUST00000066617
AA Change: I107N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729
AA Change: I107N

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 damaging
Transcript: ENSMUST00000110962
AA Change: I107N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729
AA Change: I107N

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 damaging
Transcript: ENSMUST00000110963
AA Change: I107N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729
AA Change: I107N

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

Meta Mutation Damage Score

0.8874

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccdc65	G	T	15: 98,607,041 (GRCm39)	D83Y	probably damaging	Het
Cd200r2	T	A	16: 44,698,325 (GRCm39)	M1K	probably null	Het
Clca4c-ps	A	T	3: 144,585,583 (GRCm39)		noncoding transcript	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Comp	A	T	8: 70,828,384 (GRCm39)	N130I	possibly damaging	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,325,122 (GRCm39)	D495V	unknown	Het
Erich2	A	T	2: 70,340,043 (GRCm39)	R169S	probably damaging	Het
Erich2	C	A	2: 70,371,119 (GRCm39)	S426R	unknown	Het
Gab1	C	T	8: 81,526,771 (GRCm39)	R109H	probably damaging	Het
Ggcx	GTCTAT	GTCTATCTAT	6: 72,406,140 (GRCm39)		probably null	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hmcn1	C	T	1: 150,735,003 (GRCm39)	V170M	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Katnb1	A	G	8: 95,821,802 (GRCm39)	T212A	probably damaging	Het
Kirrel1	A	G	3: 87,005,109 (GRCm39)	S80P	probably benign	Het
Lrrc75b	T	C	10: 75,389,488 (GRCm39)	T81A	possibly damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mmp10	A	T	9: 7,507,340 (GRCm39)	I387F	probably damaging	Het
Mphosph10	A	T	7: 64,039,641 (GRCm39)	C110S	probably benign	Het
Mpig6b	A	G	17: 35,283,424 (GRCm39)		probably benign	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mybpc2	A	G	7: 44,161,994 (GRCm39)		probably benign	Het
Nbea	C	T	3: 55,550,257 (GRCm39)	G2724S	possibly damaging	Het
Nck2	A	G	1: 43,572,728 (GRCm39)	M1V	probably null	Het
Nefl	T	A	14: 68,321,432 (GRCm39)	D7E	probably benign	Het
Nktr	T	A	9: 121,579,806 (GRCm39)		probably benign	Het
Nlrp12	C	T	7: 3,298,007 (GRCm39)	E55K	probably damaging	Het
Nsun7	T	A	5: 66,440,924 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,772 (GRCm39)	Y250C	probably damaging	Het
Or4c109	C	T	2: 88,818,322 (GRCm39)	V75I	probably benign	Het
Or4k5	T	A	14: 50,385,935 (GRCm39)	Y132F	probably damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Or6c2b	T	C	10: 128,947,671 (GRCm39)	T208A	probably damaging	Het
Or6f2	T	C	7: 139,756,354 (GRCm39)	V113A	possibly damaging	Het
Pcdh15	A	G	10: 74,046,217 (GRCm39)	T165A	probably damaging	Het
Pikfyve	A	T	1: 65,259,058 (GRCm39)	H410L	probably damaging	Het
Polr3c	A	T	3: 96,620,952 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,731,710 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,237,138 (GRCm38)	M1386V	possibly damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rfx4	T	A	10: 84,730,196 (GRCm39)	I495K	possibly damaging	Het
Serpina12	C	A	12: 103,997,418 (GRCm39)	A368S	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Tspan11	T	C	6: 127,916,075 (GRCm39)	W124R	probably benign	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Tyro3	T	C	2: 119,633,711 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,045,127 (GRCm39)	M644V	probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn2r85	T	C	10: 130,258,609 (GRCm39)	Y482C	probably damaging	Het
Zfp940	A	G	7: 29,545,445 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het

Other mutations in Zkscan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03172:Zkscan1	APN	5	138,092,264 (GRCm39)	missense	probably benign	0.00
R0078:Zkscan1	UTSW	5	138,091,363 (GRCm39)	missense	probably damaging	1.00
R0206:Zkscan1	UTSW	5	138,099,448 (GRCm39)	missense	probably damaging	1.00
R0206:Zkscan1	UTSW	5	138,099,448 (GRCm39)	missense	probably damaging	1.00
R0324:Zkscan1	UTSW	5	138,095,785 (GRCm39)	missense	probably damaging	1.00
R0940:Zkscan1	UTSW	5	138,091,432 (GRCm39)	missense	probably damaging	1.00
R1879:Zkscan1	UTSW	5	138,095,410 (GRCm39)	missense	probably damaging	1.00
R1926:Zkscan1	UTSW	5	138,099,625 (GRCm39)	missense	probably benign	0.33
R3749:Zkscan1	UTSW	5	138,099,703 (GRCm39)	missense	probably damaging	0.99
R5045:Zkscan1	UTSW	5	138,099,182 (GRCm39)	missense	probably damaging	1.00
R5391:Zkscan1	UTSW	5	138,095,363 (GRCm39)	missense	probably benign
R6339:Zkscan1	UTSW	5	138,091,567 (GRCm39)	missense	probably damaging	1.00
R6936:Zkscan1	UTSW	5	138,091,567 (GRCm39)	missense	probably damaging	1.00
R7178:Zkscan1	UTSW	5	138,099,192 (GRCm39)	missense	probably damaging	0.99
R9309:Zkscan1	UTSW	5	138,091,666 (GRCm39)	missense	probably damaging	1.00
Z1177:Zkscan1	UTSW	5	138,099,169 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGTATTCCGCCAACGGTTCAG -3'
(R):5'- CAGAGTGAGCTATATTGCCAAGCCC -3'

Sequencing Primer
(F):5'- GGCGCTTCTGTTACCAGAAC -3'
(R):5'- GCAATAGGCAAGAACTGTTCC -3'

Posted On

2013-06-12