Mutagenetix > Incidental Mutation

Incidental Mutation 'R7796:Zfp54'

600251

Institutional Source

Beutler Lab

Gene Symbol

Zfp54

Ensembl Gene

ENSMUSG00000023882

Gene Name

zinc finger protein 54

Synonyms

Zfp-54, Zfp76, KRAB10, clone 18

MMRRC Submission

045852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21643489-21655646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21654982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 492 (E492G)

Ref Sequence

ENSEMBL: ENSMUSP00000007884 (fasta)

Gene Model

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

AlphaFold

E9PW05

Predicted Effect

probably damaging
Transcript: ENSMUST00000007884
AA Change: E492G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: E492G

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: E492G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: E492G

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 benign
Transcript: ENSMUST00000167749

SMART Domains

Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	T	A	16: 97,867,024 (GRCm39)	I313F	probably benign	Het
Acot2	T	A	12: 84,035,257 (GRCm39)		probably null	Het
Agbl4	G	T	4: 110,518,165 (GRCm39)	G152V	unknown	Het
Arap2	A	G	5: 62,888,105 (GRCm39)	S414P	probably damaging	Het
Cep85l	A	C	10: 53,157,497 (GRCm39)	N735K	probably damaging	Het
Col12a1	T	C	9: 79,585,833 (GRCm39)	S1209G	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dpf1	C	G	7: 29,011,106 (GRCm39)	N168K	possibly damaging	Het
Dync1li2	T	A	8: 105,157,181 (GRCm39)	Y184F	probably damaging	Het
Epb41l2	A	G	10: 25,319,727 (GRCm39)	T187A	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fndc3b	G	A	3: 27,515,892 (GRCm39)	T638I	probably benign	Het
Gm11564	A	G	11: 99,706,424 (GRCm39)	V2A	unknown	Het
Gm3159	A	G	14: 4,400,560 (GRCm38)	*206W	probably null	Het
Gm32742	A	G	9: 51,071,123 (GRCm39)		probably null	Het
Gm4847	G	A	1: 166,469,819 (GRCm39)	H85Y	probably damaging	Het
Gprc5c	A	T	11: 114,755,358 (GRCm39)	D345V	probably damaging	Het
Kalrn	A	T	16: 34,007,854 (GRCm39)	Y1363*	probably null	Het
Kdm5a	T	C	6: 120,367,724 (GRCm39)	V473A	probably damaging	Het
Kidins220	T	C	12: 25,032,350 (GRCm39)	C28R	probably damaging	Het
Klhl5	T	C	5: 65,321,965 (GRCm39)	Y664H	probably damaging	Het
Krt17	A	G	11: 100,151,698 (GRCm39)	S32P	probably benign	Het
Krt87	A	G	15: 101,383,865 (GRCm39)	V424A	possibly damaging	Het
Lipo3	T	C	19: 33,759,634 (GRCm39)	T201A	possibly damaging	Het
Map2	A	G	1: 66,455,654 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,410,731 (GRCm39)	T680N	possibly damaging	Het
Metap1d	T	A	2: 71,342,506 (GRCm39)	D178E	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mki67	A	G	7: 135,299,923 (GRCm39)	S1704P	probably damaging	Het
Nr2f2	A	G	7: 70,007,901 (GRCm39)	S194P	probably benign	Het
Nrsn2	T	A	2: 152,218,471 (GRCm39)		probably benign	Het
Ociad1	C	T	5: 73,452,290 (GRCm39)	P27L	probably damaging	Het
Or13p5	T	A	4: 118,591,882 (GRCm39)	I52N	probably damaging	Het
Or4a39	T	A	2: 89,237,157 (GRCm39)	T89S	possibly damaging	Het
Patj	A	T	4: 98,435,220 (GRCm39)	M1L	probably benign	Het
Pcdhb2	A	G	18: 37,428,446 (GRCm39)	I140V	possibly damaging	Het
Pla2g6	T	C	15: 79,202,025 (GRCm39)	N49D	probably benign	Het
Pramel22	T	A	4: 143,380,727 (GRCm39)	D432V	possibly damaging	Het
Pxdc1	T	A	13: 34,836,354 (GRCm39)	N22I	probably damaging	Het
Rpgrip1l	A	G	8: 91,996,865 (GRCm39)	Y672H	probably damaging	Het
Rps23rg1	T	C	8: 3,634,160 (GRCm39)	V111A	probably benign	Het
Safb2	T	C	17: 56,873,327 (GRCm39)	R779G	possibly damaging	Het
Skic2	C	T	17: 35,063,394 (GRCm39)	G628S	probably damaging	Het
Smg5	A	T	3: 88,256,739 (GRCm39)	Q299L	probably damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Sulf1	T	C	1: 12,929,044 (GRCm39)	L864S	probably benign	Het
Tas1r1	A	G	4: 152,119,212 (GRCm39)	V119A	probably benign	Het
Tasp1	T	C	2: 139,850,705 (GRCm39)	N106S	probably damaging	Het
Tcf4	T	A	18: 69,697,140 (GRCm39)	N156K	probably benign	Het
Trav14n-3	T	A	14: 53,607,827 (GRCm39)	Y52*	probably null	Het
Ttn	T	C	2: 76,665,222 (GRCm39)	E11598G	unknown	Het
Unc80	A	G	1: 66,542,873 (GRCm39)	I376V	probably benign	Het
Ybx3	T	C	6: 131,345,479 (GRCm39)	E298G	probably damaging	Het
Yipf7	T	C	5: 69,684,596 (GRCm39)	Y73C	possibly damaging	Het
Zdbf2	G	A	1: 63,342,583 (GRCm39)	A321T	possibly damaging	Het
Zfp369	A	G	13: 65,444,029 (GRCm39)	R391G	probably benign	Het
Zfp971	A	G	2: 177,673,403 (GRCm39)	T51A	probably benign	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
IGL03037:Zfp54	APN	17	21,650,477 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTCAAGTCTCAGCAGA -3'
(R):5'- TGTTGGGATTTGAACACAGAGA -3'

Sequencing Primer
(F):5'- GCAGACATCAGAAAATCCATACTG -3'
(R):5'- TGGATATAGGATCTGTCACATTCC -3'

Posted On

2019-11-26