Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Zfp54'

408710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp54

Ensembl Gene

ENSMUSG00000023882

Gene Name

zinc finger protein 54

Synonyms

Zfp-54, Zfp76, KRAB10, clone 18

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

21643489-21655646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21650477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 17 (D17E)

Ref Sequence

ENSEMBL: ENSMUSP00000127089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007884] [ENSMUST00000165230] [ENSMUST00000167749]

AlphaFold

E9PW05

Predicted Effect

probably damaging
Transcript: ENSMUST00000007884
AA Change: D17E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: D17E

Domain	Start	End	E-Value	Type
KRAB	13	73	8.44e-22	SMART
ZnF_C2H2	211	233	1.69e-3	SMART
ZnF_C2H2	243	265	6.88e-4	SMART
ZnF_C2H2	271	293	2.12e-4	SMART
ZnF_C2H2	299	321	6.67e-2	SMART
ZnF_C2H2	327	349	7.67e-2	SMART
ZnF_C2H2	355	377	2.71e-2	SMART
ZnF_C2H2	383	403	6.24e0	SMART
ZnF_C2H2	411	433	5.99e-4	SMART
ZnF_C2H2	439	461	1.69e-3	SMART
ZnF_C2H2	467	489	2.43e-4	SMART
ZnF_C2H2	495	517	2.3e-5	SMART
ZnF_C2H2	523	545	8.22e-2	SMART
ZnF_C2H2	551	573	4.17e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165230
AA Change: D17E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: D17E

Domain	Start	End	E-Value	Type
KRAB	13	73	8.44e-22	SMART
ZnF_C2H2	211	233	1.69e-3	SMART
ZnF_C2H2	243	265	6.88e-4	SMART
ZnF_C2H2	271	293	2.12e-4	SMART
ZnF_C2H2	299	321	6.67e-2	SMART
ZnF_C2H2	327	349	7.67e-2	SMART
ZnF_C2H2	355	377	2.71e-2	SMART
ZnF_C2H2	383	403	6.24e0	SMART
ZnF_C2H2	411	433	5.99e-4	SMART
ZnF_C2H2	439	461	1.69e-3	SMART
ZnF_C2H2	467	489	2.43e-4	SMART
ZnF_C2H2	495	517	2.3e-5	SMART
ZnF_C2H2	523	545	8.22e-2	SMART
ZnF_C2H2	551	573	4.17e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167749
AA Change: D17E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882
AA Change: D17E

Domain	Start	End	E-Value	Type
KRAB	13	73	8.44e-22	SMART
ZnF_C2H2	211	233	1.69e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232563

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het

Other mutations in Zfp54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Zfp54	APN	17	21,653,821 (GRCm39)	missense	possibly damaging	0.62
IGL00425:Zfp54	APN	17	21,650,559 (GRCm39)	missense	probably damaging	1.00
IGL02830:Zfp54	APN	17	21,653,718 (GRCm39)	missense	probably damaging	1.00
R1853:Zfp54	UTSW	17	21,654,404 (GRCm39)	nonsense	probably null
R1855:Zfp54	UTSW	17	21,654,404 (GRCm39)	nonsense	probably null
R1915:Zfp54	UTSW	17	21,654,414 (GRCm39)	missense	probably benign
R3803:Zfp54	UTSW	17	21,653,814 (GRCm39)	missense	possibly damaging	0.58
R4430:Zfp54	UTSW	17	21,655,222 (GRCm39)	missense	probably damaging	0.98
R4724:Zfp54	UTSW	17	21,653,665 (GRCm39)	missense	probably damaging	0.96
R4799:Zfp54	UTSW	17	21,654,402 (GRCm39)	missense	probably damaging	1.00
R5197:Zfp54	UTSW	17	21,654,442 (GRCm39)	missense	probably benign	0.12
R5400:Zfp54	UTSW	17	21,653,962 (GRCm39)	missense	probably benign	0.05
R5422:Zfp54	UTSW	17	21,654,788 (GRCm39)	missense	probably benign	0.00
R5566:Zfp54	UTSW	17	21,653,706 (GRCm39)	missense	probably damaging	0.99
R6460:Zfp54	UTSW	17	21,654,004 (GRCm39)	missense	probably benign
R6528:Zfp54	UTSW	17	21,653,736 (GRCm39)	nonsense	probably null
R6876:Zfp54	UTSW	17	21,654,239 (GRCm39)	missense	probably damaging	1.00
R7296:Zfp54	UTSW	17	21,653,844 (GRCm39)	missense	probably benign	0.11
R7342:Zfp54	UTSW	17	21,648,014 (GRCm39)	start gained	probably benign
R7660:Zfp54	UTSW	17	21,654,501 (GRCm39)	missense	probably damaging	1.00
R7701:Zfp54	UTSW	17	21,654,357 (GRCm39)	missense	probably benign	0.02
R7796:Zfp54	UTSW	17	21,654,982 (GRCm39)	missense	probably damaging	1.00
R8087:Zfp54	UTSW	17	21,655,260 (GRCm39)	missense	probably damaging	0.99
R8412:Zfp54	UTSW	17	21,654,910 (GRCm39)	missense	probably benign	0.03
R9224:Zfp54	UTSW	17	21,654,037 (GRCm39)	missense	probably benign	0.13
R9509:Zfp54	UTSW	17	21,654,629 (GRCm39)	nonsense	probably null
R9578:Zfp54	UTSW	17	21,655,186 (GRCm39)	missense	probably damaging	1.00
R9758:Zfp54	UTSW	17	21,654,149 (GRCm39)	missense	probably benign	0.17

Posted On

2016-08-02