Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02725:Zkscan3'

305136

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zkscan3

Ensembl Gene

ENSMUSG00000021327

Gene Name

zinc finger with KRAB and SCAN domains 3

Synonyms

Zfp306, 2810435N07Rik, Skz1, Zfp307

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL02725

Quality Score

Status

Chromosome

Chromosomal Location

21571173-21586925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21579063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 144 (D144G)

Ref Sequence

ENSEMBL: ENSMUSP00000112135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070785] [ENSMUST00000116433] [ENSMUST00000116434] [ENSMUST00000117721] [ENSMUST00000223831] [ENSMUST00000224820]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070785
AA Change: D144G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: D144G

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	273	4.07e-6	SMART
ZnF_C2H2	313	335	4.17e-3	SMART
ZnF_C2H2	341	363	1.38e-3	SMART
ZnF_C2H2	369	391	9.88e-5	SMART
ZnF_C2H2	397	419	1.95e-3	SMART
ZnF_C2H2	425	447	3.95e-4	SMART
ZnF_C2H2	479	501	5.21e-4	SMART
ZnF_C2H2	507	529	1.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116433
AA Change: D144G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
AA Change: D144G

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	273	1.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116434
AA Change: D144G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: D144G

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	273	4.07e-6	SMART
ZnF_C2H2	313	335	4.17e-3	SMART
ZnF_C2H2	341	363	1.38e-3	SMART
ZnF_C2H2	369	391	9.88e-5	SMART
ZnF_C2H2	397	419	1.95e-3	SMART
ZnF_C2H2	425	447	3.95e-4	SMART
ZnF_C2H2	479	501	5.21e-4	SMART
ZnF_C2H2	507	529	1.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117721
AA Change: D144G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: D144G

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	256	3.96e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184464

Predicted Effect

probably benign
Transcript: ENSMUST00000223831

Predicted Effect

probably benign
Transcript: ENSMUST00000224820
AA Change: D115G

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,611,445 (GRCm39)	I414T	possibly damaging	Het
Agpat3	A	C	10: 78,113,889 (GRCm39)	D266E	probably benign	Het
Alpk3	G	T	7: 80,743,358 (GRCm39)	Q1058H	possibly damaging	Het
Atat1	A	T	17: 36,220,381 (GRCm39)	V37E	probably benign	Het
Bcl6b	A	G	11: 70,119,344 (GRCm39)	V124A	probably damaging	Het
Bmt2	T	C	6: 13,628,495 (GRCm39)	E396G	probably damaging	Het
Ccdc50	T	C	16: 27,255,347 (GRCm39)	C237R	probably benign	Het
Chd9	A	G	8: 91,778,312 (GRCm39)	I2790M	possibly damaging	Het
Chkb	A	G	15: 89,313,340 (GRCm39)	L82P	probably damaging	Het
Cit	T	C	5: 116,123,532 (GRCm39)	Y1458H	probably benign	Het
Clp1	T	A	2: 84,554,208 (GRCm39)	K320N	probably benign	Het
Cry2	T	C	2: 92,243,605 (GRCm39)		probably benign	Het
Cyp20a1	C	T	1: 60,405,865 (GRCm39)	R220W	probably benign	Het
Cyp27a1	C	T	1: 74,774,862 (GRCm39)	P268S	probably damaging	Het
Cyp2e1	T	G	7: 140,343,828 (GRCm39)	I22S	probably null	Het
Defb34	A	G	8: 19,173,774 (GRCm39)	T3A	unknown	Het
Dpy19l3	A	T	7: 35,411,343 (GRCm39)	M422K	probably benign	Het
Eif4g3	A	T	4: 137,897,782 (GRCm39)		probably benign	Het
Elmod3	A	G	6: 72,571,758 (GRCm39)	S7P	probably damaging	Het
Fam151a	T	G	4: 106,605,211 (GRCm39)	S524R	probably damaging	Het
Gcc1	A	T	6: 28,418,458 (GRCm39)	V625E	probably benign	Het
Glmn	G	A	5: 107,723,155 (GRCm39)	P112S	possibly damaging	Het
Grm5	A	C	7: 87,723,873 (GRCm39)	D721A	probably damaging	Het
Hivep3	T	C	4: 119,953,019 (GRCm39)	V445A	possibly damaging	Het
Hmcn1	T	A	1: 150,480,654 (GRCm39)	E4507D	possibly damaging	Het
Hmcn2	A	C	2: 31,295,540 (GRCm39)	E2583A	probably damaging	Het
Ifnb1	T	A	4: 88,440,867 (GRCm39)	I49F	probably benign	Het
Ints8	A	C	4: 11,239,406 (GRCm39)	C306W	probably benign	Het
Jakmip2	A	G	18: 43,695,655 (GRCm39)	S540P	probably damaging	Het
Kctd1	A	G	18: 15,102,667 (GRCm39)	V838A	possibly damaging	Het
Klk10	T	C	7: 43,431,044 (GRCm39)	L29P	probably damaging	Het
Lyst	T	A	13: 13,935,412 (GRCm39)	I3627K	probably damaging	Het
Maml3	A	G	3: 52,011,195 (GRCm39)	S124P	probably damaging	Het
Nav2	A	T	7: 49,214,843 (GRCm39)	K1632I	probably damaging	Het
Or2ab1	T	C	11: 58,488,690 (GRCm39)	V156A	probably benign	Het
Pde2a	G	T	7: 101,156,425 (GRCm39)	M616I	probably null	Het
Pdia2	T	C	17: 26,415,506 (GRCm39)	D440G	probably benign	Het
Rab11fip5	A	G	6: 85,351,471 (GRCm39)	S14P	probably damaging	Het
Rhpn2	T	C	7: 35,079,031 (GRCm39)	S383P	probably damaging	Het
Rnf220	A	G	4: 117,129,576 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,622,411 (GRCm39)	D504G	probably damaging	Het
Setbp1	A	T	18: 78,900,589 (GRCm39)	L1026*	probably null	Het
Slc1a4	A	T	11: 20,258,408 (GRCm39)	S264T	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptan1	T	C	2: 29,886,055 (GRCm39)	I739T	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stat5b	A	T	11: 100,695,840 (GRCm39)	D47E	possibly damaging	Het
Taar7b	A	T	10: 23,875,961 (GRCm39)	Y42F	probably benign	Het
Tfdp2	T	A	9: 96,169,748 (GRCm39)	I33K	possibly damaging	Het
Tm4sf5	A	G	11: 70,401,448 (GRCm39)	H149R	probably benign	Het
Tmco6	A	G	18: 36,871,760 (GRCm39)	M257V	probably benign	Het
Tuba8	G	T	6: 121,202,916 (GRCm39)	G410*	probably null	Het
Ubd	T	A	17: 37,504,853 (GRCm39)	V4D	probably benign	Het
Ugt2b34	C	T	5: 87,054,284 (GRCm39)	V166I	probably benign	Het
Vmn2r70	C	T	7: 85,214,553 (GRCm39)	V200I	possibly damaging	Het
Wdcp	A	T	12: 4,901,206 (GRCm39)	N354I	probably damaging	Het
Wipi2	A	T	5: 142,652,618 (GRCm39)	Y410F	possibly damaging	Het
Zc3hav1	G	T	6: 38,309,127 (GRCm39)	P565Q	probably damaging	Het
Zfp398	T	C	6: 47,842,737 (GRCm39)	V131A	probably benign	Het
Zpbp	T	A	11: 11,412,358 (GRCm39)		probably benign	Het

Other mutations in Zkscan3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Zkscan3	APN	13	21,578,261 (GRCm39)	splice site	probably benign
IGL02406:Zkscan3	APN	13	21,572,348 (GRCm39)	missense	possibly damaging	0.71
IGL02741:Zkscan3	APN	13	21,578,164 (GRCm39)	missense	probably benign	0.05
3-1:Zkscan3	UTSW	13	21,572,051 (GRCm39)	missense	probably benign	0.32
R0040:Zkscan3	UTSW	13	21,579,090 (GRCm39)	splice site	probably null
R0040:Zkscan3	UTSW	13	21,579,090 (GRCm39)	splice site	probably null
R0133:Zkscan3	UTSW	13	21,578,944 (GRCm39)	missense	possibly damaging	0.73
R0660:Zkscan3	UTSW	13	21,572,630 (GRCm39)	missense	probably damaging	1.00
R0737:Zkscan3	UTSW	13	21,572,766 (GRCm39)	missense	probably benign
R1250:Zkscan3	UTSW	13	21,572,694 (GRCm39)	missense	probably benign	0.32
R1671:Zkscan3	UTSW	13	21,580,305 (GRCm39)	missense	possibly damaging	0.93
R1926:Zkscan3	UTSW	13	21,580,616 (GRCm39)	missense	possibly damaging	0.88
R2899:Zkscan3	UTSW	13	21,578,143 (GRCm39)	missense	probably damaging	1.00
R4119:Zkscan3	UTSW	13	21,578,119 (GRCm39)	missense	possibly damaging	0.65
R4120:Zkscan3	UTSW	13	21,578,119 (GRCm39)	missense	possibly damaging	0.65
R4606:Zkscan3	UTSW	13	21,577,953 (GRCm39)	missense	probably benign	0.00
R5459:Zkscan3	UTSW	13	21,578,982 (GRCm39)	missense	probably damaging	0.96
R5549:Zkscan3	UTSW	13	21,578,233 (GRCm39)	missense	probably damaging	1.00
R5631:Zkscan3	UTSW	13	21,578,703 (GRCm39)	missense	probably damaging	1.00
R5988:Zkscan3	UTSW	13	21,580,461 (GRCm39)	missense	probably damaging	1.00
R6495:Zkscan3	UTSW	13	21,572,075 (GRCm39)	missense	probably damaging	0.97
R7286:Zkscan3	UTSW	13	21,578,983 (GRCm39)	missense	probably benign
R7363:Zkscan3	UTSW	13	21,571,992 (GRCm39)	missense	probably damaging	0.99
R7443:Zkscan3	UTSW	13	21,572,608 (GRCm39)	nonsense	probably null
R7787:Zkscan3	UTSW	13	21,572,034 (GRCm39)	missense	possibly damaging	0.53
R9008:Zkscan3	UTSW	13	21,572,383 (GRCm39)	missense	possibly damaging	0.71
R9048:Zkscan3	UTSW	13	21,580,686 (GRCm39)	start codon destroyed	probably null	0.01
R9260:Zkscan3	UTSW	13	21,578,210 (GRCm39)	missense	probably damaging	0.98
R9281:Zkscan3	UTSW	13	21,579,045 (GRCm39)	missense	possibly damaging	0.96
R9300:Zkscan3	UTSW	13	21,577,667 (GRCm39)	missense	unknown
Z1088:Zkscan3	UTSW	13	21,572,735 (GRCm39)	missense	possibly damaging	0.53

Posted On

2015-04-16