Mutagenetix > Incidental Mutation

Incidental Mutation 'R6558:Zkscan6'

522268

Institutional Source

Beutler Lab

Gene Symbol

Zkscan6

Ensembl Gene

ENSMUSG00000018347

Gene Name

zinc finger with KRAB and SCAN domains 6

Synonyms

1700128E15Rik, Zfp535, KOX11, D11Ertd714e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65807175-65829239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65828225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 357 (H357L)

Ref Sequence

ENSEMBL: ENSMUSP00000071406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018491] [ENSMUST00000071465] [ENSMUST00000080665]

AlphaFold

Q810A1

Predicted Effect

probably benign
Transcript: ENSMUST00000018491
AA Change: H357L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: H357L

Domain	Start	End	E-Value	Type
SCAN	37	149	2.75e-57	SMART
KRAB	223	280	4.18e-3	SMART
ZnF_C2H2	415	437	1.08e-1	SMART
ZnF_C2H2	443	465	4.72e-2	SMART
ZnF_C2H2	471	493	1.67e-2	SMART
ZnF_C2H2	499	521	4.94e-5	SMART
ZnF_C2H2	527	549	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000071465
AA Change: H357L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: H357L

Domain	Start	End	E-Value	Type
SCAN	37	149	2.75e-57	SMART
KRAB	223	280	4.18e-3	SMART
ZnF_C2H2	415	437	1.08e-1	SMART
ZnF_C2H2	443	465	4.72e-2	SMART
ZnF_C2H2	471	493	1.67e-2	SMART
ZnF_C2H2	499	521	4.94e-5	SMART
ZnF_C2H2	527	549	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080665

SMART Domains

Protein: ENSMUSP00000079494
Gene: ENSMUSG00000056752

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	209	787	3.6e-164	PFAM
coiled coil region	788	820	N/A	INTRINSIC
low complexity region	1228	1240	N/A	INTRINSIC
Pfam:DHC_N2	1290	1699	1.4e-134	PFAM
AAA	1863	1999	4.9e-1	SMART
AAA	2141	2341	1.99e0	SMART
AAA	2468	2614	6.75e-1	SMART
Pfam:AAA_8	2786	3053	1.1e-165	PFAM
Pfam:MT	3065	3408	7.2e-208	PFAM
Pfam:AAA_9	3430	3652	3.2e-87	PFAM
Pfam:Dynein_heavy	3786	4482	1e-241	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152386

SMART Domains

Protein: ENSMUSP00000116499
Gene: ENSMUSG00000056752

Domain	Start	End	E-Value	Type
Pfam:AAA_7	1	258	3e-155	PFAM
Pfam:AAA_8	336	603	3.9e-166	PFAM
Pfam:MT	615	958	2.3e-208	PFAM
Pfam:AAA_9	980	1202	1.1e-87	PFAM
Pfam:Dynein_heavy	1336	1514	2.4e-52	PFAM
Pfam:Dynein_heavy	1508	1956	8.6e-155	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	C	10: 20,963,673	V161A	probably damaging	Het
Anxa3	A	G	5: 96,812,939		probably null	Het
Cftr	T	C	6: 18,222,528	I261T	probably damaging	Het
Chml	A	T	1: 175,687,182	M391K	probably damaging	Het
Cog2	T	C	8: 124,550,232	L659P	probably damaging	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Cxcl2	T	C	5: 90,904,365	L71P	probably damaging	Het
Cxcl5	A	G	5: 90,759,818	E83G	probably damaging	Het
Dpt	A	G	1: 164,796,811	Y27C	unknown	Het
Drc3	A	T	11: 60,364,892	I102F	probably damaging	Het
Fam83h	T	C	15: 76,004,453	D345G	probably damaging	Het
Gm14412	G	T	2: 177,314,554	T516K	probably damaging	Het
Grip1	A	G	10: 119,454,383	N7D	probably benign	Het
Hoxc11	T	C	15: 102,954,866	L114P	probably damaging	Het
Htr7	T	C	19: 36,057,240	N5S	probably damaging	Het
Ifi208	C	T	1: 173,683,023	T248I	probably damaging	Het
Lrrc71	G	A	3: 87,742,643	T326M	probably benign	Het
Map7d1	G	A	4: 126,232,909	A798V	unknown	Het
Mfsd13a	T	A	19: 46,366,478	N31K	probably damaging	Het
Myadm	T	A	7: 3,297,061	I113N	probably damaging	Het
Myo18a	A	G	11: 77,850,852	E1509G	probably damaging	Het
Nalcn	C	G	14: 123,486,507	R382P	probably benign	Het
Ogfr	C	T	2: 180,595,404	P594L	possibly damaging	Het
Olfr458	T	A	6: 42,460,777	M81L	probably benign	Het
Olfr508	T	A	7: 108,630,188	H65Q	probably damaging	Het
Pkd1l1	C	T	11: 8,889,052	M877I	probably benign	Het
Sec23a	A	T	12: 59,004,552	S102T	probably benign	Het
Stoml1	T	A	9: 58,256,668	V90E	probably damaging	Het
Stra8	G	A	6: 34,933,040	W111*	probably null	Het
Timeless	T	A	10: 128,249,563	V850D	probably benign	Het
Unc5c	A	T	3: 141,789,729	D453V	probably damaging	Het
Xdh	T	G	17: 73,893,713	T1138P	possibly damaging	Het

Other mutations in Zkscan6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Zkscan6	APN	11	65828461	missense	possibly damaging	0.96
IGL00941:Zkscan6	APN	11	65814747	missense	probably damaging	1.00
IGL01784:Zkscan6	APN	11	65814721	missense	probably damaging	1.00
IGL02423:Zkscan6	APN	11	65828294	missense	probably benign	0.00
IGL03001:Zkscan6	APN	11	65814669	missense	probably damaging	1.00
R0105:Zkscan6	UTSW	11	65821985	missense	probably damaging	1.00
R0105:Zkscan6	UTSW	11	65821985	missense	probably damaging	1.00
R0112:Zkscan6	UTSW	11	65814863	splice site	probably benign
R0542:Zkscan6	UTSW	11	65828699	missense	possibly damaging	0.92
R1636:Zkscan6	UTSW	11	65814430	start gained	probably benign
R2235:Zkscan6	UTSW	11	65828272	missense	probably benign	0.00
R3926:Zkscan6	UTSW	11	65828225	missense	probably benign
R6083:Zkscan6	UTSW	11	65815931	missense	probably damaging	1.00
R6277:Zkscan6	UTSW	11	65828157	missense	probably benign	0.00
R6733:Zkscan6	UTSW	11	65828635	missense	probably damaging	0.99
R7301:Zkscan6	UTSW	11	65828225	missense	probably benign
R7432:Zkscan6	UTSW	11	65814363	critical splice acceptor site	probably null
R7466:Zkscan6	UTSW	11	65828531	missense	probably damaging	0.98
R9511:Zkscan6	UTSW	11	65821991	missense	probably damaging	1.00
R9513:Zkscan6	UTSW	11	65821969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATAACAGGGCATAGCAGTTACTG -3'
(R):5'- TCCCACACTCTCTGCAAGTG -3'

Sequencing Primer
(F):5'- CTTTTTCCTTTCAGAAGACAGACAAG -3'
(R):5'- CAAGTGGGCAGTTTCTGGGC -3'

Posted On

2018-06-06