Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Zkscan2'

593150

Institutional Source

Beutler Lab

Gene Symbol

Zkscan2

Ensembl Gene

ENSMUSG00000030757

Gene Name

zinc finger with KRAB and SCAN domains 2

Synonyms

9430065N20Rik, Zfp694

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123475384-123500449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123499862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 36 (S36A)

Ref Sequence

ENSEMBL: ENSMUSP00000041821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042470] [ENSMUST00000128217]

AlphaFold

G3X952

Predicted Effect

probably benign
Transcript: ENSMUST00000042470
AA Change: S36A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041821
Gene: ENSMUSG00000030757
AA Change: S36A

Domain	Start	End	E-Value	Type
SCAN	41	148	1.62e-54	SMART
KRAB	222	282	1.71e-2	SMART
SANT	333	397	3.73e0	SMART
low complexity region	449	469	N/A	INTRINSIC
SANT	489	553	2.18e0	SMART
low complexity region	627	649	N/A	INTRINSIC
ZnF_C2H2	768	790	6.42e-4	SMART
ZnF_C2H2	796	818	7.9e-4	SMART
ZnF_C2H2	824	846	5.99e-4	SMART
ZnF_C2H2	852	874	3.21e-4	SMART
ZnF_C2H2	880	902	1.18e-2	SMART
ZnF_C2H2	908	930	8.81e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128217
AA Change: S36A

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134381
Gene: ENSMUSG00000030757
AA Change: S36A

Domain	Start	End	E-Value	Type
SCAN	41	148	1.62e-54	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het

Other mutations in Zkscan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Zkscan2	APN	7	123479972	missense	probably damaging	1.00
IGL02098:Zkscan2	APN	7	123499841	missense	probably benign	0.02
IGL03093:Zkscan2	APN	7	123494850	missense	probably benign	0.01
R0016:Zkscan2	UTSW	7	123499996	start gained	probably benign
R0135:Zkscan2	UTSW	7	123480641	missense	possibly damaging	0.63
R0541:Zkscan2	UTSW	7	123480200	missense	possibly damaging	0.92
R0569:Zkscan2	UTSW	7	123498675	missense	probably benign	0.11
R1537:Zkscan2	UTSW	7	123499841	missense	possibly damaging	0.95
R1726:Zkscan2	UTSW	7	123489823	missense	probably damaging	1.00
R3792:Zkscan2	UTSW	7	123485002	missense	possibly damaging	0.95
R3802:Zkscan2	UTSW	7	123495142	intron	probably benign
R3803:Zkscan2	UTSW	7	123495142	intron	probably benign
R3804:Zkscan2	UTSW	7	123495142	intron	probably benign
R4012:Zkscan2	UTSW	7	123498660	missense	possibly damaging	0.76
R4111:Zkscan2	UTSW	7	123482684	intron	probably benign
R4605:Zkscan2	UTSW	7	123498724	missense	probably damaging	1.00
R4978:Zkscan2	UTSW	7	123495319	missense	possibly damaging	0.86
R5004:Zkscan2	UTSW	7	123490044	missense	probably damaging	1.00
R5163:Zkscan2	UTSW	7	123499867	missense	probably benign	0.01
R5753:Zkscan2	UTSW	7	123480700	missense	probably benign
R5830:Zkscan2	UTSW	7	123480100	missense	possibly damaging	0.47
R6153:Zkscan2	UTSW	7	123489770	missense	probably benign	0.06
R6912:Zkscan2	UTSW	7	123499973	start gained	probably benign
R7170:Zkscan2	UTSW	7	123499807	missense	possibly damaging	0.83
R7269:Zkscan2	UTSW	7	123489771	missense	probably benign
R7310:Zkscan2	UTSW	7	123490053	missense	possibly damaging	0.53
R7399:Zkscan2	UTSW	7	123480104	missense	probably damaging	0.98
R7624:Zkscan2	UTSW	7	123498771	missense	probably damaging	0.97
R8236:Zkscan2	UTSW	7	123479912	missense	probably benign	0.01
R8443:Zkscan2	UTSW	7	123485428	missense	probably damaging	1.00
R9365:Zkscan2	UTSW	7	123480368	missense	probably damaging	1.00
R9411:Zkscan2	UTSW	7	123485182	missense	probably damaging	1.00
R9531:Zkscan2	UTSW	7	123489614	missense	probably damaging	0.97
R9757:Zkscan2	UTSW	7	123480087	nonsense	probably null
Z1177:Zkscan2	UTSW	7	123480358	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGGTCTGAATCTTCTCAG -3'
(R):5'- GGTCCCATATTTCCAAGGGC -3'

Sequencing Primer
(F):5'- CTGAATCTTCTCAGGCAGAATGG -3'
(R):5'- GGTCCCATATTTCCAAGGGCATTAAG -3'

Posted On

2019-11-12