Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Zkscan6'

507731

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

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R6277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65807175-65829239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65828157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 334 (S334R)

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: S334R

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

SMART Domains

Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: S334R

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: S334R

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

SMART Domains

Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: S334R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,694	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,231,471	Y179*	probably null	Het
Abca7	G	C	10: 80,006,158	V1042L	probably benign	Het
Adck5	C	A	15: 76,593,263	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,289,526	T823A	probably benign	Het
Adra1d	G	T	2: 131,561,163	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,735,137	M749K	probably damaging	Het
Arid4a	A	G	12: 71,039,891	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,391,692	T317A	probably benign	Het
Bicc1	T	C	10: 71,027,901	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,730,796	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,880,291	Q26L	probably damaging	Het
Celf3	T	C	3: 94,485,365	C124R	probably damaging	Het
Cfap44	A	G	16: 44,437,306	E1068G	probably benign	Het
Crybg1	T	A	10: 43,997,259	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,451,756	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,465,503	P675L	probably damaging	Het
Dnah12	A	T	14: 26,770,482	H1193L	probably damaging	Het
Ern2	A	G	7: 122,186,107	F16L	probably benign	Het
Fam163b	G	T	2: 27,112,751	T78N	probably benign	Het
Fbxw21	A	T	9: 109,145,555	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,385,516	N344S	probably benign	Het
Git2	A	G	5: 114,733,247	I202T	probably damaging	Het
Gm11595	G	T	11: 99,772,684	P57T	unknown	Het
Gm11639	G	C	11: 105,010,322	E4422D	possibly damaging	Het
Gm12258	G	A	11: 58,854,287	V15M	probably damaging	Het
Gm13119	A	G	4: 144,363,653	E421G	probably damaging	Het
Gm15056	C	T	8: 20,900,898	G40S	probably damaging	Het
Gm960	G	T	19: 4,627,222	S466*	probably null	Het
Gnal	C	A	18: 67,213,072	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,421,583		probably null	Het
Ighv7-2	A	G	12: 113,912,467	I6T	probably benign	Het
Irf9	A	G	14: 55,607,652	D323G	probably benign	Het
Klhl23	G	T	2: 69,833,752	D482Y	probably damaging	Het
Lama4	A	G	10: 39,106,010	N1745S	probably damaging	Het
Lct	T	A	1: 128,304,237	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,290,104	V39A	probably benign	Het
Mllt6	G	A	11: 97,673,948	A527T	probably damaging	Het
Mrgprb4	T	A	7: 48,198,901	D93V	probably benign	Het
Nlrp5	A	G	7: 23,421,455	D698G	probably damaging	Het
Olfr62	T	A	4: 118,666,323	S269T	probably benign	Het
Pacsin1	T	A	17: 27,705,995		probably null	Het
Padi3	A	T	4: 140,791,161		probably null	Het
Pcdha8	T	C	18: 36,994,358	I631T	probably damaging	Het
Pkn3	G	A	2: 30,082,945	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 147,005,924	D228E	probably benign	Het
Prag1	G	T	8: 36,146,591	R1099L	probably damaging	Het
Prr36	A	G	8: 4,214,746		probably benign	Het
Prrc2c	A	G	1: 162,714,314	S369P	probably benign	Het
Ptprn2	A	G	12: 116,876,180	D441G	probably benign	Het
Slc9c1	G	A	16: 45,606,841		probably benign	Het
Slit1	G	A	19: 41,600,509	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,778,809	T261M	probably benign	Het
Spata17	G	A	1: 187,193,954	R60*	probably null	Het
Speer4f1	A	G	5: 17,476,243	R40G	probably damaging	Het
Spns3	A	G	11: 72,529,640	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,739,383	I595V	probably benign	Het
Srms	G	A	2: 181,206,245	A489V	possibly damaging	Het
St3gal4	T	C	9: 35,053,262	N169S	probably damaging	Het
Taar5	T	A	10: 23,971,271	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,195,429	P333L	probably benign	Het
Tet3	G	T	6: 83,368,084	Y1790*	probably null	Het
Ticrr	T	A	7: 79,694,696	H1436Q	probably benign	Het
Ubl7	C	T	9: 57,923,272	L334F	possibly damaging	Het
Unc13a	A	G	8: 71,666,639		probably null	Het
Unc13c	T	C	9: 73,699,169	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,290,980	L842P	possibly damaging	Het
Vps35	G	T	8: 85,261,228	Q765K	possibly damaging	Het
Zfp72	G	T	13: 74,372,524	S145*	probably null	Het
Zgrf1	C	T	3: 127,598,812	A1327V	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
R6558:Zkscan6	UTSW	11	65828225	missense	probably benign
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'- GCATCATTTGGATAACAGGGCATAG -3'
(R):5'- TCCCACACTCTCTGCAAGTG -3'

Sequencing Primer
(F):5'- TTTGGATAACAGGGCATAGCAGTTAC -3'
(R):5'- TGGCCTGTCCCTTCTGAGAG -3'

Posted On

2018-03-15