Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Zfp54'

206060

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

039879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21643489-21655646 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21654404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 299 (Y299*)

Ref Sequence

ENSEMBL: ENSMUSP00000132983 (fasta)

Gene Model

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

AlphaFold

E9PW05

Predicted Effect

probably null
Transcript: ENSMUST00000007884
AA Change: Y299*

SMART Domains

Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: Y299*

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 null
Transcript: ENSMUST00000165230
AA Change: Y299*

SMART Domains

Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: Y299*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232563

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,818,195 (GRCm39)	L285Q	probably damaging	Het
Acaca	T	C	11: 84,262,380 (GRCm39)	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,878,350 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,385 (GRCm39)	E574G	probably benign	Het
Ankrd1	T	C	19: 36,096,635 (GRCm39)	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,339,523 (GRCm39)	I163T	probably damaging	Het
Ascc3	A	T	10: 50,494,018 (GRCm39)	Q151L	probably benign	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
C1s1	A	C	6: 124,511,315 (GRCm39)		probably null	Het
Ccdc150	T	C	1: 54,407,069 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,351 (GRCm39)	I311N	probably damaging	Het
Chad	T	A	11: 94,456,303 (GRCm39)	L127H	probably damaging	Het
Clasp1	G	A	1: 118,436,624 (GRCm39)	A303T	probably damaging	Het
Clptm1	A	G	7: 19,372,134 (GRCm39)	V234A	probably benign	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,708,498 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,378,412 (GRCm39)	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,815 (GRCm39)	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,877,571 (GRCm39)	V391F	probably damaging	Het
Ehmt2	A	T	17: 35,129,752 (GRCm39)	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,505,911 (GRCm39)	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Esrrg	A	T	1: 187,943,295 (GRCm39)	M423L	probably damaging	Het
Etnppl	A	T	3: 130,414,371 (GRCm39)	I89F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbln7	A	G	2: 128,735,755 (GRCm39)	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,763,390 (GRCm39)	T465M	probably damaging	Het
Grcc10	A	G	6: 124,717,541 (GRCm39)	V57A	probably benign	Het
Herc1	T	A	9: 66,298,708 (GRCm39)	M614K	possibly damaging	Het
Itch	C	T	2: 155,014,374 (GRCm39)		probably benign	Het
Kdm6b	C	A	11: 69,298,112 (GRCm39)	A167S	probably damaging	Het
Kidins220	C	T	12: 25,106,590 (GRCm39)	R1348C	probably damaging	Het
Kif17	T	C	4: 138,015,582 (GRCm39)	L577P	probably benign	Het
Krt25	A	T	11: 99,209,141 (GRCm39)	L258Q	probably damaging	Het
Marchf10	T	C	11: 105,281,218 (GRCm39)	T356A	probably benign	Het
Mical2	G	A	7: 111,944,489 (GRCm39)	A940T	probably benign	Het
Mrpl4	A	G	9: 20,914,667 (GRCm39)	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,686,509 (GRCm39)	V447A	probably benign	Het
Mtor	C	A	4: 148,637,546 (GRCm39)	N2502K	probably benign	Het
Notch4	G	A	17: 34,799,936 (GRCm39)	D966N	probably benign	Het
Oip5	C	A	2: 119,442,271 (GRCm39)	K214N	probably benign	Het
Or8a1b	A	T	9: 37,623,266 (GRCm39)	F103Y	possibly damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pak5	A	T	2: 135,929,429 (GRCm39)	S585T	probably benign	Het
Pard3	T	A	8: 128,174,293 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,534,735 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,492,556 (GRCm39)	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,728,408 (GRCm39)		probably null	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,297,957 (GRCm39)	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,352,802 (GRCm39)	M115K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,993 (GRCm39)	W85R	probably damaging	Het
Rnf123	C	A	9: 107,938,990 (GRCm39)	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,805,699 (GRCm39)	D150G	probably damaging	Het
Snap47	C	T	11: 59,319,159 (GRCm39)		probably benign	Het
Spata22	A	G	11: 73,231,385 (GRCm39)	D213G	probably benign	Het
St6galnac2	T	A	11: 116,581,141 (GRCm39)	R60S	probably benign	Het
Stk32c	A	G	7: 138,701,363 (GRCm39)	F263S	probably damaging	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tex2	T	C	11: 106,437,702 (GRCm39)	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Trim25	C	T	11: 88,906,407 (GRCm39)	T410I	probably benign	Het
Usp18	T	A	6: 121,239,076 (GRCm39)	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588 (GRCm39)	Y169C	probably damaging	Het
Wdr33	A	T	18: 32,039,909 (GRCm39)		probably benign	Het
Xpr1	A	G	1: 155,159,002 (GRCm39)	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zfp566	T	G	7: 29,777,927 (GRCm39)	S85R	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
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

Predicted Primers

PCR Primer
(F):5'- GACCATTTCATCTCTACACACAGTC -3'
(R):5'- GGACTTACCACACTCTTTGCA -3'

Sequencing Primer
(F):5'- CATCAAAGACTTCGTGCTGG -3'
(R):5'- GACTTACCACACTCTTTGCATTTGTG -3'

Posted On

2014-06-23