Mutagenetix > Incidental Mutation

Incidental Mutation 'R3749:Zkscan1'

310089

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

040734-MU

Accession Numbers

Essential gene?

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

Stock #

R3749 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138083346-138106084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138099703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 476 (S476P)

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: S549P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: S549P

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: S476P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729
AA Change: S476P

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: S476P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729
AA Change: S476P

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: S476P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729
AA Change: S476P

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

0.1503

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam19	A	T	11: 46,028,437 (GRCm39)	D690V	probably benign	Het
Ankib1	G	T	5: 3,784,097 (GRCm39)	P293Q	probably damaging	Het
Arhgap19	T	A	19: 41,762,518 (GRCm39)	E461V	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,445,936 (GRCm39)	N319K	possibly damaging	Het
Ccdc40	T	C	11: 119,155,252 (GRCm39)	V1164A	probably benign	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Colq	A	T	14: 31,271,410 (GRCm39)		probably benign	Het
Daam1	C	A	12: 72,017,940 (GRCm39)	D716E	probably damaging	Het
Dnah17	T	C	11: 117,973,742 (GRCm39)	S1935G	probably benign	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
Faap24	A	T	7: 35,092,437 (GRCm39)	V160D	possibly damaging	Het
Gpc1	C	A	1: 92,785,304 (GRCm39)	C414*	probably null	Het
Igkv9-120	G	A	6: 68,026,985 (GRCm39)	A7T	probably benign	Het
Kcnu1	T	A	8: 26,376,798 (GRCm39)	C391S	probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,706,723 (GRCm39)	N520I	possibly damaging	Het
Marchf6	A	G	15: 31,462,160 (GRCm39)	V856A	probably benign	Het
Mfsd1	T	C	3: 67,490,286 (GRCm39)	S46P	probably benign	Het
Mme	T	A	3: 63,250,961 (GRCm39)	V334E	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Obsl1	T	C	1: 75,474,890 (GRCm39)	T642A	probably benign	Het
Olfm1	C	T	2: 28,098,100 (GRCm39)	T54I	probably damaging	Het
Or10c1	G	A	17: 37,522,691 (GRCm39)	R18C	possibly damaging	Het
Or6c3b	C	T	10: 129,527,830 (GRCm39)	V27I	probably benign	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Patj	A	G	4: 98,357,837 (GRCm39)	Y701C	probably damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Scn2a	T	G	2: 65,544,115 (GRCm39)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc25a25	G	T	2: 32,310,392 (GRCm39)	N122K	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Supt16	A	G	14: 52,417,596 (GRCm39)	L306P	probably damaging	Het
Syne1	C	T	10: 5,002,267 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Terb1	T	C	8: 105,223,466 (GRCm39)	D114G	probably damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Tpi1	T	A	6: 124,789,754 (GRCm39)	S130C	probably damaging	Het
Ttn	G	A	2: 76,584,350 (GRCm39)	H22253Y	probably damaging	Het
Uggt2	A	T	14: 119,295,084 (GRCm39)	V38E	probably benign	Het
Vmn1r158	A	C	7: 22,489,639 (GRCm39)	L190W	probably damaging	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Wnt2	T	C	6: 18,023,167 (GRCm39)	I161V	probably benign	Het
Zdhhc25	C	T	15: 88,485,226 (GRCm39)	S187L	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zmynd8	A	G	2: 165,647,118 (GRCm39)	Y945H	probably damaging	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
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
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'- TTAATAACACCCCAGAGGAGGC -3'
(R):5'- GTTGATGTAACTGTTAGAGACCCTG -3'

Sequencing Primer
(F):5'- CCCTATGAATGTAACGAGTGTGGC -3'
(R):5'- CTGTTAGAGACCCTGAAGTGTGAC -3'

Posted On

2015-04-17