Mutagenetix > Incidental Mutation

Incidental Mutation 'R7227:Zkscan4'

562245

Institutional Source

Beutler Lab

Gene Symbol

Zkscan4

Ensembl Gene

ENSMUSG00000054931

Gene Name

zinc finger with KRAB and SCAN domains 4

Synonyms

MMRRC Submission

045299-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21663019-21669677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21668413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 317 (V317A)

Ref Sequence

ENSEMBL: ENSMUSP00000054604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062609] [ENSMUST00000076238] [ENSMUST00000225845]

AlphaFold

Q5SZT6

Predicted Effect

probably benign
Transcript: ENSMUST00000062609
AA Change: V317A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000054604
Gene: ENSMUSG00000054931
AA Change: V317A

Domain	Start	End	E-Value	Type
SCAN	47	159	9.33e-69	SMART
ZnF_C2H2	253	275	4.11e-2	SMART
ZnF_C2H2	281	303	1.12e-3	SMART
ZnF_C2H2	309	331	6.52e-5	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.98e-4	SMART
ZnF_C2H2	420	442	1.98e-4	SMART
ZnF_C2H2	448	470	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076238

SMART Domains

Protein: ENSMUSP00000075589
Gene: ENSMUSG00000059459

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	20	43	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225845
AA Change: V288A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,952,449 (GRCm39)	L344H	probably damaging	Het
Abcb1b	T	A	5: 8,875,593 (GRCm39)	S589T	probably damaging	Het
Acsm2	A	C	7: 119,190,556 (GRCm39)	I520L	probably benign	Het
Ap2a2	T	C	7: 141,200,784 (GRCm39)	Y544H	probably damaging	Het
Ascc1	T	A	10: 59,843,560 (GRCm39)	Y41N	probably benign	Het
Bend3	T	A	10: 43,387,401 (GRCm39)	L598Q	probably damaging	Het
Cfap74	T	G	4: 155,545,405 (GRCm39)	Y1108*	probably null	Het
Cxcl17	C	A	7: 25,102,319 (GRCm39)	R41S	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Dnah2	A	G	11: 69,312,222 (GRCm39)	Y4370H	probably damaging	Het
Dzip3	T	A	16: 48,771,932 (GRCm39)	Q579L	probably damaging	Het
Enpp3	C	T	10: 24,693,742 (GRCm39)	M195I	unknown	Het
Esyt2	A	G	12: 116,305,745 (GRCm39)	D325G	probably damaging	Het
Fat1	T	G	8: 45,463,646 (GRCm39)	I1396S	probably benign	Het
Gigyf1	T	A	5: 137,522,085 (GRCm39)	I661K	unknown	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Hivep1	T	C	13: 42,310,387 (GRCm39)	S876P	probably benign	Het
Hk3	C	T	13: 55,160,053 (GRCm39)	R362H	probably benign	Het
Ier3ip1	T	A	18: 77,027,330 (GRCm39)	M53K	probably benign	Het
Klhl5	T	C	5: 65,298,631 (GRCm39)	S137P	probably benign	Het
Kremen2	G	T	17: 23,963,573 (GRCm39)	Y70*	probably null	Het
Lag3	C	T	6: 124,885,457 (GRCm39)	G308S	possibly damaging	Het
Mab21l4	G	T	1: 93,079,736 (GRCm39)	N451K	probably benign	Het
Map4k2	T	A	19: 6,396,624 (GRCm39)	L542Q	probably damaging	Het
Mef2d	G	A	3: 88,065,514 (GRCm39)		probably null	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mpp3	T	A	11: 101,895,904 (GRCm39)	Y457F	possibly damaging	Het
Mrpl12	T	A	11: 120,379,178 (GRCm39)	I175N	probably damaging	Het
Mybbp1a	G	T	11: 72,338,585 (GRCm39)	K728N	possibly damaging	Het
Nfkb1	C	T	3: 135,332,420 (GRCm39)	V112M	probably damaging	Het
Nucb2	A	T	7: 116,125,311 (GRCm39)	D123V	probably damaging	Het
Or12j2	A	G	7: 139,915,534 (GRCm39)		probably benign	Het
Orc3	T	C	4: 34,572,542 (GRCm39)	T629A	probably benign	Het
Pdk1	T	A	2: 71,714,245 (GRCm39)	N218K	possibly damaging	Het
Plce1	A	G	19: 38,715,346 (GRCm39)	T1298A	probably benign	Het
Ppan	T	A	9: 20,799,496 (GRCm39)		probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Scn2a	A	C	2: 65,582,367 (GRCm39)	I1572L	probably damaging	Het
Sec16a	A	T	2: 26,328,935 (GRCm39)	Y1027N	probably benign	Het
Serpinb3a	T	A	1: 106,979,359 (GRCm39)	T48S	probably damaging	Het
Slc30a8	A	G	15: 52,195,032 (GRCm39)	M264V	probably benign	Het
Slc44a3	A	T	3: 121,303,879 (GRCm39)	C286S	possibly damaging	Het
Slc8a2	T	C	7: 15,878,906 (GRCm39)	I464T	possibly damaging	Het
Smco1	T	C	16: 32,092,833 (GRCm39)	M168T	possibly damaging	Het
Spns2	A	T	11: 72,349,513 (GRCm39)	Y246*	probably null	Het
Ssbp2	T	C	13: 91,823,244 (GRCm39)	M213T	probably benign	Het
Stk40	G	T	4: 126,017,559 (GRCm39)	A29S	probably benign	Het
Thrap3	A	T	4: 126,067,296 (GRCm39)	F683I	probably damaging	Het
Tmc5	A	G	7: 118,269,889 (GRCm39)	T880A	possibly damaging	Het
Trim38	T	A	13: 23,969,946 (GRCm39)	N168K	possibly damaging	Het
Ube2d1	T	A	10: 71,091,702 (GRCm39)	Y134F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,475 (GRCm39)	Y246*	probably null	Het
Vmn2r18	T	C	5: 151,496,264 (GRCm39)	T485A	probably damaging	Het
Wrn	T	A	8: 33,738,974 (GRCm39)	I1285F	probably damaging	Het
Xrcc1	C	A	7: 24,246,757 (GRCm39)	H8Q	probably damaging	Het

Other mutations in Zkscan4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Zkscan4	APN	13	21,668,518 (GRCm39)	missense	probably damaging	1.00
IGL01358:Zkscan4	APN	13	21,668,475 (GRCm39)	missense	possibly damaging	0.82
R0107:Zkscan4	UTSW	13	21,668,751 (GRCm39)	missense	possibly damaging	0.62
R0637:Zkscan4	UTSW	13	21,665,477 (GRCm39)	missense	probably damaging	0.99
R0791:Zkscan4	UTSW	13	21,668,081 (GRCm39)	missense	probably benign	0.04
R1252:Zkscan4	UTSW	13	21,668,044 (GRCm39)	missense	probably benign	0.02
R1870:Zkscan4	UTSW	13	21,668,104 (GRCm39)	missense	probably benign	0.00
R4771:Zkscan4	UTSW	13	21,663,416 (GRCm39)	nonsense	probably null
R5080:Zkscan4	UTSW	13	21,665,498 (GRCm39)	missense	probably benign	0.02
R5987:Zkscan4	UTSW	13	21,668,623 (GRCm39)	missense	probably damaging	1.00
R6238:Zkscan4	UTSW	13	21,668,757 (GRCm39)	missense	possibly damaging	0.53
R6542:Zkscan4	UTSW	13	21,668,508 (GRCm39)	missense	probably damaging	1.00
R6954:Zkscan4	UTSW	13	21,668,535 (GRCm39)	missense	probably damaging	1.00
R7418:Zkscan4	UTSW	13	21,668,799 (GRCm39)	missense	probably damaging	1.00
R7462:Zkscan4	UTSW	13	21,668,044 (GRCm39)	missense	probably benign	0.02
R7549:Zkscan4	UTSW	13	21,668,419 (GRCm39)	missense	probably damaging	1.00
R7750:Zkscan4	UTSW	13	21,663,525 (GRCm39)	missense	probably damaging	1.00
R8051:Zkscan4	UTSW	13	21,668,823 (GRCm39)	missense	not run
R8942:Zkscan4	UTSW	13	21,668,680 (GRCm39)	missense	probably benign	0.00
R9040:Zkscan4	UTSW	13	21,668,229 (GRCm39)	missense	probably benign
R9297:Zkscan4	UTSW	13	21,668,201 (GRCm39)	missense	probably benign	0.06
R9304:Zkscan4	UTSW	13	21,665,570 (GRCm39)	missense	possibly damaging	0.75
RF049:Zkscan4	UTSW	13	21,668,881 (GRCm39)	frame shift	probably null
T0722:Zkscan4	UTSW	13	21,663,370 (GRCm39)	small deletion	probably benign
T0975:Zkscan4	UTSW	13	21,663,370 (GRCm39)	small deletion	probably benign
Z1088:Zkscan4	UTSW	13	21,668,067 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAAGTTACAGACAGCAC -3'
(R):5'- CTTTGCCACACAAGTTGCAC -3'

Sequencing Primer
(F):5'- AACCAGGCGGCACTTTTG -3'
(R):5'- ACAAGTTGCACTGGAATGGCTTC -3'

Posted On

2019-06-26