Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Zkscan1'

558758

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

045232-MU

Accession Numbers

Essential gene?

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

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138083346-138106084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138099192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 378 (D378E)

Ref Sequence

ENSEMBL: ENSMUSP00000019660 (fasta)

Gene Model

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

AlphaFold

Q8BGS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000019660
AA Change: D378E

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

SMART Domains

Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: D378E

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: D305E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729
AA Change: D305E

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: D305E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729
AA Change: D305E

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: D305E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729
AA Change: D305E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,535,745 (GRCm39)	I130T	possibly damaging	Het
Adam24	T	A	8: 41,133,039 (GRCm39)	L169*	probably null	Het
Als2	A	T	1: 59,246,971 (GRCm39)	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,688,599 (GRCm39)	N212K		Het
Anpep	T	C	7: 79,490,736 (GRCm39)	D260G	probably benign	Het
Arhgap17	A	T	7: 122,884,581 (GRCm39)		probably null	Het
Atad2	C	T	15: 57,980,689 (GRCm39)	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,874,099 (GRCm39)	M696K	probably benign	Het
Atp13a2	A	G	4: 140,726,462 (GRCm39)	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,850,979 (GRCm39)	D29G	possibly damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Cep250	T	A	2: 155,815,375 (GRCm39)	L631*	probably null	Het
Cimip2a	G	A	2: 25,110,252 (GRCm39)	V55I	probably damaging	Het
Clec4a3	T	C	6: 122,941,251 (GRCm39)	I82T	probably benign	Het
Csmd3	T	A	15: 47,454,170 (GRCm39)	I2648F		Het
Cul5	A	G	9: 53,555,826 (GRCm39)	F247L	probably benign	Het
Dnajc24	A	T	2: 105,800,807 (GRCm39)	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,344,200 (GRCm39)	V1848E	probably damaging	Het
Dspp	A	G	5: 104,321,932 (GRCm39)	T14A	probably benign	Het
Gm7298	T	G	6: 121,762,855 (GRCm39)	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,842,220 (GRCm39)	S62R	unknown	Het
Gtsf1	T	G	15: 103,328,388 (GRCm39)	N130T	probably benign	Het
Heatr5a	C	A	12: 51,971,925 (GRCm39)	S755I	probably damaging	Het
Hrc	A	G	7: 44,985,685 (GRCm39)	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,371,573 (GRCm39)	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,834 (GRCm39)	S256G	probably benign	Het
Insyn2b	G	T	11: 34,352,359 (GRCm39)	V134F	probably damaging	Het
Ipo13	A	G	4: 117,761,081 (GRCm39)	S546P	possibly damaging	Het
Katnip	T	C	7: 125,465,499 (GRCm39)	V1317A	probably benign	Het
Kif24	A	G	4: 41,395,085 (GRCm39)	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,555,275 (GRCm39)	V176A	probably benign	Het
Lgi1	T	C	19: 38,294,733 (GRCm39)	Y502H	probably damaging	Het
Liph	T	A	16: 21,795,078 (GRCm39)	D178V	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mak16	A	C	8: 31,656,602 (GRCm39)	S42A	probably benign	Het
Mamdc4	T	C	2: 25,458,977 (GRCm39)	I269V	probably benign	Het
Mapk8ip3	A	T	17: 25,120,728 (GRCm39)	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788 (GRCm38)	S889T	unknown	Het
Npy6r	A	G	18: 44,409,551 (GRCm39)	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,005,895 (GRCm39)	T489P	possibly damaging	Het
Or52a5b	G	A	7: 103,417,182 (GRCm39)	Q141*	probably null	Het
Or5h19	T	A	16: 58,856,296 (GRCm39)	D268V	probably benign	Het
Or5t17	G	A	2: 86,832,879 (GRCm39)	V189I	probably benign	Het
Otof	G	C	5: 30,540,878 (GRCm39)	T887S	possibly damaging	Het
Papola	T	C	12: 105,773,443 (GRCm39)	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,622,946 (GRCm39)	H1421R	probably benign	Het
Plpp5	T	C	8: 26,210,606 (GRCm39)	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,568,337 (GRCm39)	I154L	probably benign	Het
Prr18	A	C	17: 8,560,741 (GRCm39)	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,697,521 (GRCm39)	S198F	possibly damaging	Het
Qars1	T	C	9: 108,392,322 (GRCm39)	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,285,959 (GRCm39)	R185*	probably null	Het
Scn2a	C	T	2: 65,579,197 (GRCm39)	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,008,506 (GRCm39)	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,165,455 (GRCm39)	T175A	probably damaging	Het
Skic2	T	C	17: 35,058,440 (GRCm39)	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,317,259 (GRCm39)	I427V	possibly damaging	Het
Slc2a2	C	T	3: 28,773,631 (GRCm39)	A312V	possibly damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spcs1	G	A	14: 30,722,438 (GRCm39)	S127F	possibly damaging	Het
Speg	T	C	1: 75,399,027 (GRCm39)	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,117,481 (GRCm39)	I423F	probably damaging	Het
Synj2	T	A	17: 6,076,754 (GRCm39)	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,032,623 (GRCm39)	D45V	probably damaging	Het
Tcf3	C	A	10: 80,257,433 (GRCm39)	V11F	unknown	Het
Tead1	A	T	7: 112,441,144 (GRCm39)	Q91L	probably benign	Het
Tgm5	T	A	2: 120,916,249 (GRCm39)		probably benign	Het
Tgoln1	C	T	6: 72,593,028 (GRCm39)	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,755,264 (GRCm39)	N445K	probably benign	Het
Ttn	G	C	2: 76,540,514 (GRCm39)	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,356,424 (GRCm39)	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,887,006 (GRCm39)	L684F	probably damaging	Het
Zfp661	T	C	2: 127,419,456 (GRCm39)	D228G	probably benign	Het
Zfp738	T	C	13: 67,821,147 (GRCm39)	K77E	probably damaging	Het
Zswim9	T	A	7: 12,993,924 (GRCm39)	D744V	possibly 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
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
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'- CACCTCACATGGGGAGATAGC -3'
(R):5'- CAGTGTGAGGGTCGAGCTC -3'

Sequencing Primer
(F):5'- TCGAAAGGCAACAGAAAAATCCTG -3'
(R):5'- GCCACACTCGTTACATTCATAGGG -3'

Posted On

2019-06-26