Mutagenetix > Incidental Mutation

Incidental Mutation 'R0884:Zfp454'

81072

Institutional Source

Beutler Lab

Gene Symbol

Zfp454

Ensembl Gene

ENSMUSG00000048728

Gene Name

zinc finger protein 454

Synonyms

MMRRC Submission

039051-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50763545-50778463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50764764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 223 (S223P)

Ref Sequence

ENSEMBL: ENSMUSP00000129125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050595] [ENSMUST00000109131] [ENSMUST00000125749] [ENSMUST00000163301]

AlphaFold

Q80Y34

Predicted Effect

probably benign
Transcript: ENSMUST00000050595
AA Change: S223P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000061824
Gene: ENSMUSG00000048728
AA Change: S223P

Domain	Start	End	E-Value	Type
KRAB	14	75	1.35e-29	SMART
ZnF_C2H2	191	213	9.73e-4	SMART
ZnF_C2H2	230	252	6.32e-3	SMART
ZnF_C2H2	258	280	2.4e-3	SMART
ZnF_C2H2	286	308	8.22e-2	SMART
ZnF_C2H2	314	336	1.33e-1	SMART
ZnF_C2H2	342	364	1.84e-4	SMART
ZnF_C2H2	370	392	9.73e-4	SMART
ZnF_C2H2	398	420	5.21e-4	SMART
ZnF_C2H2	426	448	4.87e-4	SMART
ZnF_C2H2	454	476	2.12e-4	SMART
ZnF_C2H2	482	504	1.04e-3	SMART
ZnF_C2H2	510	532	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109131
AA Change: S112P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104759
Gene: ENSMUSG00000048728
AA Change: S112P

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	102	9.73e-4	SMART
ZnF_C2H2	119	141	6.32e-3	SMART
ZnF_C2H2	147	169	2.4e-3	SMART
ZnF_C2H2	175	197	8.22e-2	SMART
ZnF_C2H2	203	225	1.33e-1	SMART
ZnF_C2H2	231	253	1.84e-4	SMART
ZnF_C2H2	259	281	9.73e-4	SMART
ZnF_C2H2	287	309	5.21e-4	SMART
ZnF_C2H2	315	337	4.87e-4	SMART
ZnF_C2H2	343	365	2.12e-4	SMART
ZnF_C2H2	371	393	1.04e-3	SMART
ZnF_C2H2	399	421	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125749

SMART Domains

Protein: ENSMUSP00000122658
Gene: ENSMUSG00000048728

Domain	Start	End	E-Value	Type
KRAB	14	75	1.35e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136599

Predicted Effect

probably benign
Transcript: ENSMUST00000163301
AA Change: S223P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129125
Gene: ENSMUSG00000048728
AA Change: S223P

Domain	Start	End	E-Value	Type
KRAB	14	75	1.35e-29	SMART
ZnF_C2H2	191	213	9.73e-4	SMART
ZnF_C2H2	230	252	6.32e-3	SMART
ZnF_C2H2	258	280	2.4e-3	SMART
ZnF_C2H2	286	308	8.22e-2	SMART
ZnF_C2H2	314	336	1.33e-1	SMART
ZnF_C2H2	342	364	1.84e-4	SMART
ZnF_C2H2	370	392	9.73e-4	SMART
ZnF_C2H2	398	420	5.21e-4	SMART
ZnF_C2H2	426	448	4.87e-4	SMART
ZnF_C2H2	454	476	2.12e-4	SMART
ZnF_C2H2	482	504	1.04e-3	SMART
ZnF_C2H2	510	532	2.95e-3	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,574,624 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,454,615 (GRCm39)	R477S	probably damaging	Het
Aqp7	T	A	4: 41,034,929 (GRCm39)	T175S	possibly damaging	Het
Bclaf1	A	T	10: 20,197,822 (GRCm39)	R22*	probably null	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Bicc1	A	C	10: 70,794,677 (GRCm39)	V160G	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cep72	A	G	13: 74,203,000 (GRCm39)		probably null	Het
Cobl	A	G	11: 12,325,908 (GRCm39)	I196T	possibly damaging	Het
Cux1	T	G	5: 136,336,689 (GRCm39)	D941A	probably damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Depdc5	T	A	5: 33,075,322 (GRCm39)	V500D	possibly damaging	Het
Dhx35	T	C	2: 158,673,631 (GRCm39)	I354T	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Eif4g3	C	A	4: 137,879,087 (GRCm39)	N588K	possibly damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Fam53a	T	C	5: 33,758,160 (GRCm39)	E321G	probably benign	Het
Fat4	C	A	3: 39,037,007 (GRCm39)	T3553K	possibly damaging	Het
Fer1l4	T	C	2: 155,861,233 (GRCm39)	T1978A	possibly damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Gje1	G	T	10: 14,592,484 (GRCm39)	S99R	possibly damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Gpnmb	T	C	6: 49,024,847 (GRCm39)	V293A	possibly damaging	Het
Hyi	T	A	4: 118,217,414 (GRCm39)	I62N	probably damaging	Het
Il4ra	A	G	7: 125,173,835 (GRCm39)	I267V	probably damaging	Het
Kcnd2	A	T	6: 21,216,540 (GRCm39)	Q81H	probably benign	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Lpcat4	A	G	2: 112,073,077 (GRCm39)	N208S	probably damaging	Het
Muc17	T	A	5: 137,171,146 (GRCm39)	T162S	possibly damaging	Het
Mup3	T	A	4: 62,005,411 (GRCm39)	I20F	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Pde4d	A	T	13: 110,087,474 (GRCm39)	I670L	probably damaging	Het
Phlpp1	T	A	1: 106,317,395 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,760,794 (GRCm39)		probably null	Het
Pramel21	A	G	4: 143,341,754 (GRCm39)	D61G	probably benign	Het
Prrg4	A	T	2: 104,669,707 (GRCm39)	Y137N	probably damaging	Het
Rbm28	A	T	6: 29,155,153 (GRCm39)	S217T	possibly damaging	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Slc6a18	G	T	13: 73,815,156 (GRCm39)	A384D	probably damaging	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Tln2	C	A	9: 67,278,015 (GRCm39)	R333L	probably damaging	Het
Tnrc6b	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAG	15: 80,786,756 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,581,410 (GRCm39)	T14834I	possibly damaging	Het
Uggt1	T	C	1: 36,214,159 (GRCm39)	S177G	probably benign	Het
Zmat4	A	G	8: 24,505,143 (GRCm39)	T128A	probably benign	Het

Other mutations in Zfp454

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Zfp454	APN	11	50,765,033 (GRCm39)	missense	probably benign	0.22
IGL01631:Zfp454	APN	11	50,774,562 (GRCm39)	missense	probably benign
R0109:Zfp454	UTSW	11	50,774,602 (GRCm39)	missense	possibly damaging	0.71
R0606:Zfp454	UTSW	11	50,765,012 (GRCm39)	missense	probably benign	0.00
R0743:Zfp454	UTSW	11	50,764,764 (GRCm39)	missense	probably benign	0.01
R1181:Zfp454	UTSW	11	50,764,413 (GRCm39)	missense	probably damaging	1.00
R1377:Zfp454	UTSW	11	50,764,607 (GRCm39)	missense	probably damaging	1.00
R2126:Zfp454	UTSW	11	50,764,822 (GRCm39)	missense	probably benign	0.44
R4869:Zfp454	UTSW	11	50,763,980 (GRCm39)	missense	probably damaging	1.00
R4973:Zfp454	UTSW	11	50,764,950 (GRCm39)	missense	probably benign
R5379:Zfp454	UTSW	11	50,774,629 (GRCm39)	missense	probably damaging	0.99
R5997:Zfp454	UTSW	11	50,764,449 (GRCm39)	missense	probably damaging	1.00
R6321:Zfp454	UTSW	11	50,763,876 (GRCm39)	missense	probably damaging	0.98
R6490:Zfp454	UTSW	11	50,764,950 (GRCm39)	missense	probably benign
R6892:Zfp454	UTSW	11	50,764,025 (GRCm39)	missense	probably damaging	1.00
R7362:Zfp454	UTSW	11	50,777,194 (GRCm39)	critical splice donor site	probably null
R7650:Zfp454	UTSW	11	50,774,580 (GRCm39)	missense	probably damaging	0.98
R8671:Zfp454	UTSW	11	50,764,595 (GRCm39)	missense	possibly damaging	0.71
R9368:Zfp454	UTSW	11	50,764,537 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- tctggtgGTAGGAAAGGGAAGAGC -3'
(R):5'- AATTGGCAGTGCCAGGAAGGTC -3'

Sequencing Primer
(F):5'- TGTACTCTGGTGGAAGGCTT -3'
(R):5'- TTGCAGCAAGTGGTCCTC -3'

Posted On

2013-11-07