Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03172:Zkscan1'

411897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zkscan1

Ensembl Gene

ENSMUSG00000029729

Gene Name

zinc finger with KRAB and SCAN domains 1

Synonyms

5930429A01Rik, KOX18, 9130423L19Rik, 9230118B16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL03172

Quality Score

Status

Chromosome

Chromosomal Location

138083346-138106084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138092264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 146 (Q146R)

Ref Sequence

ENSEMBL: ENSMUSP00000106588 (fasta)

Gene Model

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

AlphaFold

Q8BGS3

Predicted Effect

probably benign
Transcript: ENSMUST00000019660
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: Q146R

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
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729
AA Change: Q146R

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
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729
AA Change: Q146R

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
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729
AA Change: Q146R

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,003 (GRCm39)	H528R	probably damaging	Het
A530053G22Rik	A	T	6: 60,379,047 (GRCm39)		noncoding transcript	Het
Aagab	A	G	9: 63,542,676 (GRCm39)		probably benign	Het
Aknad1	A	T	3: 108,688,519 (GRCm39)	I616F	possibly damaging	Het
Ap2a1	A	C	7: 44,553,479 (GRCm39)	D629E	probably benign	Het
Apc2	C	A	10: 80,149,220 (GRCm39)	Q1425K	probably damaging	Het
Asf1b	A	C	8: 84,694,542 (GRCm39)	H102P	probably benign	Het
Celf6	C	T	9: 59,489,565 (GRCm39)	A90V	probably damaging	Het
Chrna2	A	T	14: 66,379,688 (GRCm39)	Q9L	probably benign	Het
Csnk1g3	A	G	18: 54,086,356 (GRCm39)	I420M	possibly damaging	Het
Eml3	T	C	19: 8,916,543 (GRCm39)		probably benign	Het
Epn3	T	C	11: 94,382,456 (GRCm39)	N508S	possibly damaging	Het
Fam120a	T	C	13: 49,063,812 (GRCm39)	Y608C	probably damaging	Het
Fbn1	A	C	2: 125,162,888 (GRCm39)	C2133G	possibly damaging	Het
Fhl5	A	G	4: 25,211,309 (GRCm39)	F128L	probably damaging	Het
Fn1	T	C	1: 71,680,421 (GRCm39)	N428S	probably damaging	Het
Fxr2	T	C	11: 69,540,665 (GRCm39)		probably null	Het
Gabrp	T	C	11: 33,504,388 (GRCm39)	Y309C	probably damaging	Het
Golga2	A	G	2: 32,182,168 (GRCm39)	I50V	probably benign	Het
Ifi203	C	T	1: 173,764,158 (GRCm39)	G105R	possibly damaging	Het
Itgav	A	T	2: 83,596,190 (GRCm39)	Q201L	possibly damaging	Het
Jade2	T	C	11: 51,716,198 (GRCm39)	T336A	probably damaging	Het
Kdm4b	A	G	17: 56,708,649 (GRCm39)	D996G	probably damaging	Het
Me2	A	G	18: 73,903,797 (GRCm39)	I557T	probably benign	Het
Memo1	A	C	17: 74,551,996 (GRCm39)	L100R	probably damaging	Het
Mrps2	A	G	2: 28,359,818 (GRCm39)	N225S	probably damaging	Het
Ndufa2	A	G	18: 36,877,278 (GRCm39)		probably null	Het
Or2g7	G	T	17: 38,378,275 (GRCm39)	C71F	probably damaging	Het
Or7g19	G	A	9: 18,856,757 (GRCm39)	S271N	probably benign	Het
Pak5	G	T	2: 135,940,310 (GRCm39)	Y501*	probably null	Het
Pot1b	A	T	17: 56,002,206 (GRCm39)	F123I	possibly damaging	Het
Rev3l	T	C	10: 39,700,786 (GRCm39)	V1761A	probably benign	Het
Samd3	T	A	10: 26,106,064 (GRCm39)	V14E	probably damaging	Het
Slc4a8	G	A	15: 100,697,598 (GRCm39)	A605T	probably benign	Het
Smgc	A	T	15: 91,744,642 (GRCm39)	D333V	probably damaging	Het
Spata4	A	G	8: 55,055,440 (GRCm39)	I147V	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r73	G	A	7: 85,507,495 (GRCm39)	H606Y	probably benign	Het
Vsig8	A	G	1: 172,387,916 (GRCm39)	N2S	probably damaging	Het
Wdr17	A	C	8: 55,114,515 (GRCm39)	I667R	probably damaging	Het
Yif1b	A	G	7: 28,937,873 (GRCm39)		probably null	Het
Zbtb5	A	T	4: 44,994,003 (GRCm39)	H460Q	possibly damaging	Het
Zdhhc21	G	A	4: 82,724,564 (GRCm39)		probably benign	Het
Zfp944	A	T	17: 22,559,018 (GRCm39)	H76Q	probably damaging	Het

Other mutations in Zkscan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0503:Zkscan1	UTSW	5	138,091,588 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2016-08-02