Mutagenetix > Incidental Mutation

Incidental Mutation 'R4119:Zkscan3'

315240

Institutional Source

Beutler Lab

Gene Symbol

Zkscan3

Ensembl Gene

ENSMUSG00000021327

Gene Name

zinc finger with KRAB and SCAN domains 3

Synonyms

Zfp306, 2810435N07Rik, Zfp307, Skz1

MMRRC Submission

040992-MU

Accession Numbers

Genbank: NM_001145778, NM_023685; MGI: 1919989

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R4119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21387003-21402755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21393949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 256 (E256G)

Ref Sequence

ENSEMBL: ENSMUSP00000112862 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070785

SMART Domains

Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327

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

SMART Domains

Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327

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

Predicted Effect

probably benign
Transcript: ENSMUST00000116434

SMART Domains

Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327

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

possibly damaging
Transcript: ENSMUST00000117721
AA Change: E256G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: E256G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (46/47)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,356,904	L39P	probably damaging	Het
Abcc1	A	G	16: 14,394,013	M138V	probably benign	Het
Abl1	T	A	2: 31,801,727	I1067N	probably damaging	Het
Adam6a	C	T	12: 113,544,574	T189I	probably benign	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Aplnr	T	C	2: 85,136,966	Y112H	possibly damaging	Het
Arhgap17	A	G	7: 123,306,994	F313S	probably damaging	Het
Arid1b	T	C	17: 4,995,794		probably benign	Het
Bcas1	G	C	2: 170,378,815	P394A	probably benign	Het
Ccdc116	A	G	16: 17,142,187	S213P	probably damaging	Het
Cdh15	T	C	8: 122,863,423	V365A	probably damaging	Het
Cenpf	A	G	1: 189,653,045	I2346T	probably benign	Het
Chd7	A	G	4: 8,785,658		probably benign	Het
Ezh2	A	C	6: 47,544,548	N390K	probably benign	Het
Fbxo7	C	A	10: 86,021,895		probably benign	Het
Fibin	A	G	2: 110,362,690	Y36H	probably damaging	Het
Gm597	A	T	1: 28,777,973	V326D	probably damaging	Het
Gpr37	C	T	6: 25,688,426	R224H	possibly damaging	Het
Hars2	A	T	18: 36,790,488	N363I	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Itpr1	G	A	6: 108,394,355	D1140N	probably benign	Het
Lrig2	A	G	3: 104,467,195	V190A	probably benign	Het
Ltk	T	A	2: 119,757,948		probably benign	Het
Morc2a	C	A	11: 3,683,868	T660N	probably benign	Het
Msh3	A	G	13: 92,354,011		probably benign	Het
Myo15b	T	C	11: 115,873,492	S1311P	probably benign	Het
Nbeal1	A	T	1: 60,291,870	I2213L	probably damaging	Het
Olfr1122	T	A	2: 87,387,843	M46K	possibly damaging	Het
Olfr1155	A	G	2: 87,943,443	Y62H	probably damaging	Het
P2ry12	T	C	3: 59,217,841	T138A	probably benign	Het
Pirb	T	C	7: 3,717,575	D308G	probably damaging	Het
Pkn3	A	G	2: 30,083,037		probably benign	Het
Ripor1	T	A	8: 105,618,857		probably benign	Het
Ryr2	T	C	13: 11,779,267	T942A	probably benign	Het
Sptbn5	T	A	2: 120,064,529	D798V	possibly damaging	Het
Synpo2	T	A	3: 123,117,150	D282V	probably damaging	Het
Tnik	T	C	3: 28,666,175	F1287L	probably damaging	Het
Tshz1	T	G	18: 84,014,189	K698T	probably benign	Het
Ttc23l	A	C	15: 10,539,920	V159G	probably damaging	Het
Urb2	T	A	8: 124,047,240	D1503E	probably benign	Het
Usp29	T	A	7: 6,962,806	N549K	probably benign	Het
Vmn2r39	G	A	7: 9,023,674	H443Y	probably benign	Het
Zfp24	A	G	18: 24,014,569	Y229H	possibly damaging	Het
Zfp472	T	A	17: 32,978,215	Y421*	probably null	Het

Other mutations in Zkscan3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Zkscan3	APN	13	21394091	splice site	probably benign
IGL02406:Zkscan3	APN	13	21388178	missense	possibly damaging	0.71
IGL02725:Zkscan3	APN	13	21394893	missense	possibly damaging	0.85
IGL02741:Zkscan3	APN	13	21393994	missense	probably benign	0.05
3-1:Zkscan3	UTSW	13	21387881	missense	probably benign	0.32
R0040:Zkscan3	UTSW	13	21394920	splice site	probably null
R0040:Zkscan3	UTSW	13	21394920	splice site	probably null
R0133:Zkscan3	UTSW	13	21394774	missense	possibly damaging	0.73
R0660:Zkscan3	UTSW	13	21388460	missense	probably damaging	1.00
R0737:Zkscan3	UTSW	13	21388596	missense	probably benign
R1250:Zkscan3	UTSW	13	21388524	missense	probably benign	0.32
R1671:Zkscan3	UTSW	13	21396135	missense	possibly damaging	0.93
R1926:Zkscan3	UTSW	13	21396446	missense	possibly damaging	0.88
R2899:Zkscan3	UTSW	13	21393973	missense	probably damaging	1.00
R4120:Zkscan3	UTSW	13	21393949	missense	possibly damaging	0.65
R4606:Zkscan3	UTSW	13	21393783	missense	probably benign	0.00
R5459:Zkscan3	UTSW	13	21394812	missense	probably damaging	0.96
R5549:Zkscan3	UTSW	13	21394063	missense	probably damaging	1.00
R5631:Zkscan3	UTSW	13	21394533	missense	probably damaging	1.00
R5988:Zkscan3	UTSW	13	21396291	missense	probably damaging	1.00
R6495:Zkscan3	UTSW	13	21387905	missense	probably damaging	0.97
R7286:Zkscan3	UTSW	13	21394813	missense	probably benign
R7363:Zkscan3	UTSW	13	21387822	missense	probably damaging	0.99
R7443:Zkscan3	UTSW	13	21388438	nonsense	probably null
R7787:Zkscan3	UTSW	13	21387864	missense	possibly damaging	0.53
R9008:Zkscan3	UTSW	13	21388213	missense	possibly damaging	0.71
R9048:Zkscan3	UTSW	13	21396516	start codon destroyed	probably null	0.01
R9260:Zkscan3	UTSW	13	21394040	missense	probably damaging	0.98
R9281:Zkscan3	UTSW	13	21394875	missense	possibly damaging	0.96
R9300:Zkscan3	UTSW	13	21393497	missense	unknown
Z1088:Zkscan3	UTSW	13	21388565	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- ATTCGCTGTCACTGCAACAC -3'
(R):5'- TGCAACCCAGATACTTACCTATTC -3'

Sequencing Primer
(F):5'- AAGACCTAGCTCATTGTGGC -3'
(R):5'- ATTCCATCTCTTTGGTGGAATTTTAC -3'

Posted On

2015-05-14