Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03000:Zkscan17'

407266

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zkscan17

Ensembl Gene

ENSMUSG00000020472

Gene Name

zinc finger with KRAB and SCAN domains 17

Synonyms

Zfp496, Nizp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03000

Quality Score

Status

Chromosome

Chromosomal Location

59376346-59397466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59377986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 399 (Y399C)

Ref Sequence

ENSEMBL: ENSMUSP00000098709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013262] [ENSMUST00000101150]

AlphaFold

Q5SXI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000013262
AA Change: Y555C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: Y555C

Domain	Start	End	E-Value	Type
SCAN	38	149	1.99e-54	SMART
KRAB	219	273	8.69e-1	SMART
ZnF_C2H2	405	425	4.34e0	SMART
ZnF_C2H2	433	455	2.36e-2	SMART
ZnF_C2H2	461	483	3.63e-3	SMART
low complexity region	493	508	N/A	INTRINSIC
ZnF_C2H2	520	543	6.13e-1	SMART
ZnF_C2H2	551	573	1.56e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000101150
AA Change: Y399C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472
AA Change: Y399C

Domain	Start	End	E-Value	Type
KRAB	63	117	8.69e-1	SMART
ZnF_C2H2	249	269	4.34e0	SMART
ZnF_C2H2	277	299	2.36e-2	SMART
ZnF_C2H2	305	327	3.63e-3	SMART
low complexity region	337	352	N/A	INTRINSIC
ZnF_C2H2	364	387	6.13e-1	SMART
ZnF_C2H2	395	417	1.56e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119915

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,360,959 (GRCm39)	S445G	probably benign	Het
Abca5	C	T	11: 110,208,640 (GRCm39)	V226I	probably benign	Het
Ankrd34c	A	T	9: 89,611,239 (GRCm39)	D367E	probably benign	Het
Bmp6	G	T	13: 38,682,887 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Cblb	T	G	16: 52,024,905 (GRCm39)	D933E	probably damaging	Het
Ccny	A	G	18: 9,353,489 (GRCm39)	S95P	probably benign	Het
Cep192	A	G	18: 67,985,115 (GRCm39)	I1658V	probably damaging	Het
Cntn6	A	T	6: 104,781,347 (GRCm39)	T478S	probably damaging	Het
Cpne7	T	C	8: 123,853,435 (GRCm39)	F247L	probably benign	Het
Csf1r	A	G	18: 61,242,724 (GRCm39)	E29G	probably damaging	Het
Dctn3	T	A	4: 41,719,912 (GRCm39)	I65F	possibly damaging	Het
Dock1	A	G	7: 134,390,969 (GRCm39)	E743G	probably benign	Het
Dus2	C	A	8: 106,775,316 (GRCm39)	T281N	probably damaging	Het
Gbx1	G	T	5: 24,709,924 (GRCm39)	T307K	probably benign	Het
Gtf2ird2	A	T	5: 134,223,745 (GRCm39)	N93I	probably benign	Het
Heatr1	A	G	13: 12,449,292 (GRCm39)	D1930G	probably damaging	Het
Hif3a	T	C	7: 16,782,564 (GRCm39)	I334V	probably benign	Het
Ints1	G	T	5: 139,752,261 (GRCm39)	N756K	probably benign	Het
Kcnn2	T	C	18: 45,693,635 (GRCm39)	F404L	probably damaging	Het
Kmt2c	G	A	5: 25,489,170 (GRCm39)	R4590W	probably damaging	Het
Limk1	A	T	5: 134,699,355 (GRCm39)	V134E	probably damaging	Het
Mep1a	A	G	17: 43,785,881 (GRCm39)	V736A	probably benign	Het
Mex3a	T	A	3: 88,443,602 (GRCm39)	I226N	probably damaging	Het
Mgl2	A	T	11: 70,025,026 (GRCm39)	K16*	probably null	Het
Mms22l	G	T	4: 24,581,161 (GRCm39)	V864L	probably damaging	Het
Mroh4	T	A	15: 74,487,963 (GRCm39)	M320L	probably benign	Het
Mylk3	G	A	8: 86,085,806 (GRCm39)	P243S	probably damaging	Het
Nbea	A	C	3: 55,912,048 (GRCm39)	D1246E	possibly damaging	Het
Ndnf	A	G	6: 65,680,299 (GRCm39)	T193A	possibly damaging	Het
Nfasc	T	C	1: 132,549,247 (GRCm39)		probably benign	Het
Or6k8-ps1	A	G	1: 173,979,126 (GRCm39)	T15A	probably benign	Het
Ptprq	A	T	10: 107,378,518 (GRCm39)	F2008I	probably damaging	Het
Rhag	A	G	17: 41,139,413 (GRCm39)	K116R	probably benign	Het
Rictor	T	A	15: 6,798,721 (GRCm39)		probably benign	Het
Slc35f5	C	A	1: 125,502,479 (GRCm39)	T277N	probably damaging	Het
Sorcs2	A	G	5: 36,222,675 (GRCm39)		probably benign	Het
Ssh2	T	A	11: 77,312,032 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,024,365 (GRCm39)	S830P	probably benign	Het
Trim30d	T	C	7: 104,122,476 (GRCm39)	T112A	probably benign	Het
Ttc34	T	C	4: 154,949,888 (GRCm39)	V947A	probably damaging	Het
Ttn	A	G	2: 76,642,953 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,025,096 (GRCm39)	V560D	probably damaging	Het
Ush2a	A	T	1: 188,282,053 (GRCm39)	E1856V	possibly damaging	Het
Zfp142	T	C	1: 74,612,777 (GRCm39)	M457V	probably benign	Het
Zfp711	C	T	X: 111,534,555 (GRCm39)	Q137*	probably null	Het
Zswim6	T	G	13: 107,863,649 (GRCm39)		noncoding transcript	Het
Zswim6	T	A	13: 107,863,650 (GRCm39)		noncoding transcript	Het

Other mutations in Zkscan17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Zkscan17	APN	11	59,378,364 (GRCm39)	missense	probably benign	0.09
IGL01755:Zkscan17	APN	11	59,378,241 (GRCm39)	missense	probably damaging	1.00
IGL02739:Zkscan17	APN	11	59,394,352 (GRCm39)	missense	probably damaging	1.00
IGL03088:Zkscan17	APN	11	59,378,592 (GRCm39)	missense	probably damaging	1.00
R1880:Zkscan17	UTSW	11	59,378,455 (GRCm39)	nonsense	probably null
R2005:Zkscan17	UTSW	11	59,383,042 (GRCm39)	missense	probably damaging	0.99
R3001:Zkscan17	UTSW	11	59,378,077 (GRCm39)	missense	probably damaging	1.00
R3002:Zkscan17	UTSW	11	59,378,077 (GRCm39)	missense	probably damaging	1.00
R3898:Zkscan17	UTSW	11	59,394,263 (GRCm39)	missense	probably damaging	1.00
R4402:Zkscan17	UTSW	11	59,393,848 (GRCm39)	start codon destroyed	possibly damaging	0.89
R4754:Zkscan17	UTSW	11	59,393,851 (GRCm39)	nonsense	probably null
R4959:Zkscan17	UTSW	11	59,394,538 (GRCm39)	missense	probably damaging	0.99
R4978:Zkscan17	UTSW	11	59,384,053 (GRCm39)	missense	possibly damaging	0.58
R5399:Zkscan17	UTSW	11	59,393,744 (GRCm39)	critical splice donor site	probably null
R5762:Zkscan17	UTSW	11	59,378,397 (GRCm39)	missense	possibly damaging	0.89
R5788:Zkscan17	UTSW	11	59,378,086 (GRCm39)	missense	probably damaging	1.00
R6101:Zkscan17	UTSW	11	59,394,401 (GRCm39)	missense	probably damaging	1.00
R6105:Zkscan17	UTSW	11	59,394,401 (GRCm39)	missense	probably damaging	1.00
R6191:Zkscan17	UTSW	11	59,393,820 (GRCm39)	missense	probably damaging	0.99
R8098:Zkscan17	UTSW	11	59,394,410 (GRCm39)	missense	possibly damaging	0.88
R8161:Zkscan17	UTSW	11	59,393,770 (GRCm39)	missense	probably benign	0.08
R8210:Zkscan17	UTSW	11	59,394,574 (GRCm39)	missense	probably damaging	1.00
R9489:Zkscan17	UTSW	11	59,378,037 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02