Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Zfp69'

92590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp69

Ensembl Gene

ENSMUSG00000064141

Gene Name

zinc finger protein 69

Synonyms

Zfp63, LOC381549, KRAB2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

120930137-120951699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120931500 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 206 (K206M)

Ref Sequence

ENSEMBL: ENSMUSP00000101888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106280] [ENSMUST00000106281] [ENSMUST00000130702]

Predicted Effect

probably damaging
Transcript: ENSMUST00000106280
AA Change: K206M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101887
Gene: ENSMUSG00000064141
AA Change: K206M

Domain	Start	End	E-Value	Type
internal_repeat_1	32	80	1.53e-8	PROSPERO
KRAB	131	192	1.15e-32	SMART
ZnF_C2H2	324	346	1.13e-4	SMART
ZnF_C2H2	352	374	2.79e-4	SMART
ZnF_C2H2	380	402	1.04e-3	SMART
ZnF_C2H2	408	430	1.12e-3	SMART
ZnF_C2H2	436	458	1.82e-3	SMART
ZnF_C2H2	464	486	3.29e-1	SMART
ZnF_C2H2	492	514	1.38e-3	SMART
ZnF_C2H2	520	542	3.29e-1	SMART
ZnF_C2H2	548	570	2.12e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106281
AA Change: K206M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101888
Gene: ENSMUSG00000064141
AA Change: K206M

Domain	Start	End	E-Value	Type
internal_repeat_1	32	80	1.53e-8	PROSPERO
KRAB	131	192	1.15e-32	SMART
ZnF_C2H2	324	346	1.13e-4	SMART
ZnF_C2H2	352	374	2.79e-4	SMART
ZnF_C2H2	380	402	1.04e-3	SMART
ZnF_C2H2	408	430	1.12e-3	SMART
ZnF_C2H2	436	458	1.82e-3	SMART
ZnF_C2H2	464	486	3.29e-1	SMART
ZnF_C2H2	492	514	1.38e-3	SMART
ZnF_C2H2	520	542	3.29e-1	SMART
ZnF_C2H2	548	570	2.12e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130702
AA Change: K46M

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133312
Gene: ENSMUSG00000064141
AA Change: K46M

Domain	Start	End	E-Value	Type
KRAB	1	32	2.6e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132839

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Zfp69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02604:Zfp69	APN	4	120931463	missense	probably benign	0.10
IGL03406:Zfp69	APN	4	120931084	missense	probably benign
R0505:Zfp69	UTSW	4	120931095	missense	probably damaging	1.00
R0613:Zfp69	UTSW	4	120934347	missense	probably benign
R0628:Zfp69	UTSW	4	120949425	nonsense	probably null
R0838:Zfp69	UTSW	4	120931281	missense	probably benign	0.09
R1669:Zfp69	UTSW	4	120947498	utr 5 prime	probably benign
R2060:Zfp69	UTSW	4	120930832	missense	probably damaging	0.98
R3740:Zfp69	UTSW	4	120930874	splice site	probably null
R4242:Zfp69	UTSW	4	120934475	intron	probably benign
R4770:Zfp69	UTSW	4	120934417	missense	probably damaging	0.99
R4998:Zfp69	UTSW	4	120947325	missense	possibly damaging	0.52
R5620:Zfp69	UTSW	4	120930522	missense	probably damaging	1.00
R6312:Zfp69	UTSW	4	120949517	unclassified	probably benign
R6534:Zfp69	UTSW	4	120931197	missense	probably benign	0.05
R7056:Zfp69	UTSW	4	120931098	missense	probably benign	0.01
R7061:Zfp69	UTSW	4	120931401	missense	possibly damaging	0.69
R7663:Zfp69	UTSW	4	120935126	missense	probably benign	0.17
R8169:Zfp69	UTSW	4	120930534	missense	probably damaging	1.00
R8348:Zfp69	UTSW	4	120930637	missense	probably damaging	1.00
R8389:Zfp69	UTSW	4	120949352	missense	possibly damaging	0.93
RF053:Zfp69	UTSW	4	120947347	utr 5 prime	probably benign

Posted On

2013-12-09