Mutagenetix > Incidental Mutation

Incidental Mutation 'R6544:Zfp455'

521049

Institutional Source

Beutler Lab

Gene Symbol

Zfp455

Ensembl Gene

ENSMUSG00000051037

Gene Name

zinc finger protein 455

Synonyms

Rslcan-10, 3732412P20Rik

MMRRC Submission

044670-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.422) question?

Stock #

R6544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67342570-67357362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67355121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 130 (L130I)

Ref Sequence

ENSEMBL: ENSMUSP00000112546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117110] [ENSMUST00000120861]

AlphaFold

Q7M6X9

Predicted Effect

probably benign
Transcript: ENSMUST00000117110
AA Change: L65I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113356
Gene: ENSMUSG00000051037
AA Change: L65I

Domain	Start	End	E-Value	Type
ZnF_C2H2	44	66	7.15e-2	SMART
ZnF_C2H2	72	94	1.6e-4	SMART
ZnF_C2H2	100	122	2.12e-4	SMART
ZnF_C2H2	128	150	6.23e-2	SMART
ZnF_C2H2	184	206	1.01e-1	SMART
ZnF_C2H2	212	234	3.11e-2	SMART
ZnF_C2H2	240	262	1.1e-2	SMART
ZnF_C2H2	268	290	1.38e-3	SMART
ZnF_C2H2	296	318	3.58e-2	SMART
ZnF_C2H2	324	346	2.24e-3	SMART
ZnF_C2H2	352	374	7.9e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120861
AA Change: L130I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112546
Gene: ENSMUSG00000051037
AA Change: L130I

Domain	Start	End	E-Value	Type
KRAB	5	65	1.92e-34	SMART
ZnF_C2H2	109	131	7.15e-2	SMART
ZnF_C2H2	137	159	1.6e-4	SMART
ZnF_C2H2	165	187	2.12e-4	SMART
ZnF_C2H2	193	215	6.23e-2	SMART
ZnF_C2H2	249	271	1.01e-1	SMART
ZnF_C2H2	277	299	3.11e-2	SMART
ZnF_C2H2	305	327	1.1e-2	SMART
ZnF_C2H2	333	355	1.38e-3	SMART
ZnF_C2H2	361	383	3.58e-2	SMART
ZnF_C2H2	389	411	2.24e-3	SMART
ZnF_C2H2	417	439	7.9e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005K14Rik	T	A	1: 83,036,678 (GRCm39)	K118*	probably null	Het
Actr2	A	G	11: 20,050,933 (GRCm39)	F17L	probably damaging	Het
Adam26b	T	C	8: 43,974,818 (GRCm39)	I61M	probably damaging	Het
Ahcyl	A	C	16: 45,975,147 (GRCm39)	S77A	probably benign	Het
Ahnak2	A	G	12: 112,746,829 (GRCm39)		probably benign	Het
Angptl3	T	C	4: 98,919,675 (GRCm39)	L145P	probably damaging	Het
Ank2	T	C	3: 126,726,871 (GRCm39)	T808A	probably damaging	Het
Ark2c	T	A	18: 77,650,931 (GRCm39)		probably benign	Het
Cadm3	A	G	1: 173,194,977 (GRCm39)		probably null	Het
Cog7	C	T	7: 121,534,966 (GRCm39)	R573Q	probably damaging	Het
Dchs1	T	A	7: 105,407,385 (GRCm39)	I2110F	probably damaging	Het
Fbxo47	G	A	11: 97,747,089 (GRCm39)	R326C	probably damaging	Het
Frmpd1	A	T	4: 45,279,024 (GRCm39)	D583V	probably damaging	Het
Gigyf1	T	A	5: 137,523,321 (GRCm39)	L911Q	probably damaging	Het
Gprin1	G	A	13: 54,888,124 (GRCm39)	A50V	possibly damaging	Het
Grik4	A	T	9: 42,459,024 (GRCm39)	Y571*	probably null	Het
Gucy2e	A	G	11: 69,126,483 (GRCm39)	V299A	probably benign	Het
Hectd2	C	T	19: 36,589,728 (GRCm39)	L618F	probably damaging	Het
Lactbl1	A	T	4: 136,360,300 (GRCm39)	I160F	possibly damaging	Het
Lats1	T	A	10: 7,577,434 (GRCm39)	V186D	possibly damaging	Het
Lmtk2	A	G	5: 144,110,624 (GRCm39)	H448R	possibly damaging	Het
Map10	T	C	8: 126,398,113 (GRCm39)	I502T	probably benign	Het
Mok	A	G	12: 110,777,189 (GRCm39)	F239S	probably damaging	Het
Mprip	G	A	11: 59,648,552 (GRCm39)	G752D	probably benign	Het
Naip5	C	A	13: 100,359,652 (GRCm39)	G528V	possibly damaging	Het
Neu2	T	C	1: 87,524,464 (GRCm39)	W150R	probably damaging	Het
Or1ak2	T	A	2: 36,827,539 (GRCm39)	M136K	possibly damaging	Het
Or5an1	T	C	19: 12,260,519 (GRCm39)	Y36H	probably damaging	Het
Or5as1	T	A	2: 86,980,207 (GRCm39)	Y266F	probably damaging	Het
Or5l13	T	A	2: 87,780,335 (GRCm39)	M81L	probably benign	Het
Pip5k1c	T	A	10: 81,144,830 (GRCm39)	Y224N	probably damaging	Het
Plch1	T	C	3: 63,758,399 (GRCm39)	E5G	probably damaging	Het
Pspc1	T	C	14: 57,001,660 (GRCm39)	*59W	probably null	Het
Ptprq	T	C	10: 107,444,102 (GRCm39)	T1501A	probably damaging	Het
Rorb	G	T	19: 18,929,614 (GRCm39)	P304T	possibly damaging	Het
Scn7a	A	T	2: 66,514,444 (GRCm39)	L1110Q	probably damaging	Het
Serpine2	C	T	1: 79,780,847 (GRCm39)		probably null	Het
Slco1c1	A	G	6: 141,477,170 (GRCm39)		probably null	Het
Smarca2	T	A	19: 26,608,331 (GRCm39)	V130D	probably damaging	Het
Sox17	G	T	1: 4,562,655 (GRCm39)	P117T	possibly damaging	Het
Sparcl1	A	T	5: 104,240,310 (GRCm39)	Y371*	probably null	Het
Tdpoz2	T	C	3: 93,559,267 (GRCm39)	D235G	possibly damaging	Het
Tns2	A	C	15: 102,022,269 (GRCm39)	K1182N	possibly damaging	Het
Tpte	G	T	8: 22,805,121 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,799,503 (GRCm39)	I459K	possibly damaging	Het
Wdr97	T	C	15: 76,242,478 (GRCm39)	Y823H	probably benign	Het
Zc3h15	G	A	2: 83,491,492 (GRCm39)	R240H	probably benign	Het
Zfp777	A	T	6: 48,021,419 (GRCm39)	S68T	probably damaging	Het

Other mutations in Zfp455

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Zfp455	APN	13	67,355,962 (GRCm39)	missense	probably benign	0.33
IGL03111:Zfp455	APN	13	67,356,063 (GRCm39)	missense	probably benign	0.00
IGL03210:Zfp455	APN	13	67,355,113 (GRCm39)	missense	possibly damaging	0.93
IGL03371:Zfp455	APN	13	67,355,066 (GRCm39)	nonsense	probably null
PIT4504001:Zfp455	UTSW	13	67,346,685 (GRCm39)	missense	probably damaging	0.98
R0245:Zfp455	UTSW	13	67,355,899 (GRCm39)	missense	probably damaging	1.00
R0277:Zfp455	UTSW	13	67,346,728 (GRCm39)	splice site	probably null
R1141:Zfp455	UTSW	13	67,346,655 (GRCm39)	missense	probably damaging	1.00
R1266:Zfp455	UTSW	13	67,355,028 (GRCm39)	nonsense	probably null
R1657:Zfp455	UTSW	13	67,346,703 (GRCm39)	missense	possibly damaging	0.83
R1749:Zfp455	UTSW	13	67,355,073 (GRCm39)	missense	probably damaging	1.00
R1757:Zfp455	UTSW	13	67,355,601 (GRCm39)	missense	probably damaging	1.00
R1854:Zfp455	UTSW	13	67,355,881 (GRCm39)	missense	probably damaging	1.00
R1867:Zfp455	UTSW	13	67,355,509 (GRCm39)	missense	probably benign	0.33
R4411:Zfp455	UTSW	13	67,355,389 (GRCm39)	missense	probably damaging	0.96
R6060:Zfp455	UTSW	13	67,355,257 (GRCm39)	missense	probably damaging	1.00
R7132:Zfp455	UTSW	13	67,347,230 (GRCm39)	missense	probably damaging	1.00
R7524:Zfp455	UTSW	13	67,355,688 (GRCm39)	missense	possibly damaging	0.73
R7966:Zfp455	UTSW	13	67,347,302 (GRCm39)	missense	probably benign
R8848:Zfp455	UTSW	13	67,356,089 (GRCm39)	missense	possibly damaging	0.70
R8994:Zfp455	UTSW	13	67,355,478 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp455	UTSW	13	67,355,107 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCAACTTTGGCTCAACAGG -3'
(R):5'- GACACATATTTCATCCTTGTAGGC -3'

Sequencing Primer
(F):5'- CTTTGGCTCAACAGGAATAATACC -3'
(R):5'- GCAAGGTTTCTCCCCAGAATG -3'

Posted On

2018-06-06