Mutagenetix > Incidental Mutation

Incidental Mutation 'R0743:Zfp454'

70793

Institutional Source

Beutler Lab

Gene Symbol

Zfp454

Ensembl Gene

ENSMUSG00000048728

Gene Name

zinc finger protein 454

Synonyms

MMRRC Submission

038924-MU

Accession Numbers

Essential gene?

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

Stock #

R0743 (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: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Csmd2	A	T	4: 128,007,469 (GRCm39)	T149S	probably benign	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
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Dnm2	T	A	9: 21,411,561 (GRCm39)	Y597N	probably damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Glrb	T	A	3: 80,786,987 (GRCm39)	I59F	probably damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Kif5b	G	T	18: 6,209,192 (GRCm39)	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,585,282 (GRCm39)	N44K	probably damaging	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Mep1b	A	G	18: 21,213,515 (GRCm39)	D68G	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfat5	G	A	8: 108,094,698 (GRCm39)	E962K	probably damaging	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
Npepps	A	G	11: 97,096,884 (GRCm39)		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 103,899,967 (GRCm39)		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
Or6c66	T	A	10: 129,461,712 (GRCm39)	T73S	probably benign	Het
Or8h10	G	A	2: 86,808,843 (GRCm39)	T99I	probably benign	Het
Ovgp1	T	A	3: 105,882,248 (GRCm39)	L37H	probably damaging	Het
Padi3	G	T	4: 140,513,740 (GRCm39)	A646D	probably benign	Het
Pamr1	A	G	2: 102,440,252 (GRCm39)	E142G	probably damaging	Het
Papolg	A	T	11: 23,820,818 (GRCm39)		probably null	Het
Pate8	T	C	9: 36,492,597 (GRCm39)	S103G	probably benign	Het
Pfkl	C	T	10: 77,831,077 (GRCm39)		probably null	Het
Plrg1	T	C	3: 82,967,224 (GRCm39)	S132P	probably benign	Het
Pramel23	A	T	4: 143,425,134 (GRCm39)	I103N	probably damaging	Het
Prr14l	C	A	5: 32,988,538 (GRCm39)	C319F	possibly damaging	Het
Prtn3	T	A	10: 79,715,511 (GRCm39)	M1K	probably null	Het
Ptpn22	T	C	3: 103,809,487 (GRCm39)	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,366 (GRCm39)	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,309,734 (GRCm39)	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,000,871 (GRCm39)	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,814,906 (GRCm39)	M191L	probably benign	Het
Sirt4	T	C	5: 115,621,014 (GRCm39)	K53E	probably benign	Het
Slc10a2	A	G	8: 5,139,132 (GRCm39)	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,031,469 (GRCm39)	V103M	probably damaging	Het
Stab2	T	A	10: 86,723,759 (GRCm39)	I1479F	probably damaging	Het
Synpo2	A	G	3: 122,906,355 (GRCm39)	V987A	probably benign	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tmem39a	A	T	16: 38,405,764 (GRCm39)	I200F	probably damaging	Het
Ttn	G	A	2: 76,579,613 (GRCm39)	T23760M	probably damaging	Het
Uqcrc1	C	T	9: 108,773,773 (GRCm39)	Q22*	probably null	Het
Wdtc1	A	G	4: 133,027,972 (GRCm39)	W377R	probably damaging	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
R0884: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

2013-09-30