Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:Zfp454'

425762

Institutional Source

Beutler Lab

Gene Symbol

Zfp454

Ensembl Gene

ENSMUSG00000048728

Gene Name

zinc finger protein 454

Synonyms

MMRRC Submission

042954-MU

Accession Numbers

Essential gene?

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

Stock #

R5379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50763545-50778463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50774629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 15 (T15A)

Ref Sequence

ENSEMBL: ENSMUSP00000122658 (fasta)

Gene Model

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

AlphaFold

Q80Y34

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050595
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061824
Gene: ENSMUSG00000048728
AA Change: T15A

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

SMART Domains

Protein: ENSMUSP00000104759
Gene: ENSMUSG00000048728

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 damaging
Transcript: ENSMUST00000125749
AA Change: T15A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122658
Gene: ENSMUSG00000048728
AA Change: T15A

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

possibly damaging
Transcript: ENSMUST00000163301
AA Change: T15A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129125
Gene: ENSMUSG00000048728
AA Change: T15A

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

Meta Mutation Damage Score

0.2305

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
B4galt6	T	C	18: 20,822,296 (GRCm39)	D294G	probably damaging	Het
Baz1a	T	G	12: 54,941,133 (GRCm39)	D1539A	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Fndc5	A	T	4: 129,035,887 (GRCm39)	I175F	probably damaging	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Or8d1b	T	C	9: 38,887,151 (GRCm39)	Y60H	possibly damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Pramel25	A	G	4: 143,521,493 (GRCm39)	I370V	probably benign	Het
Proca1	C	A	11: 78,096,092 (GRCm39)	S154R	probably damaging	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	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
R0743:Zfp454	UTSW	11	50,764,764 (GRCm39)	missense	probably benign	0.01
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
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'- AATAAGTCCTGGAAAGGTGATGCTG -3'
(R):5'- AAGTTTGTCTGCAGCACAAGG -3'

Sequencing Primer
(F):5'- AAAGGTGATGCTGGGCTCC -3'
(R):5'- GCTCAGCCACTAGGAGATG -3'

Posted On

2016-08-04