Mutagenetix > Incidental Mutation

Incidental Mutation 'R3745:Zfp445'

271171

Institutional Source

Beutler Lab

Gene Symbol

Zfp445

Ensembl Gene

ENSMUSG00000047036

Gene Name

zinc finger protein 445

Synonyms

ZNF168

MMRRC Submission

040731-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.632) question?

Stock #

R3745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122844529-122866006 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 122854726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 289 (D289E)

Ref Sequence

ENSEMBL: ENSMUSP00000148942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056467] [ENSMUST00000213971] [ENSMUST00000214626] [ENSMUST00000216063]

AlphaFold

Q8R2V3

Predicted Effect

probably benign
Transcript: ENSMUST00000056467
AA Change: D289E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055738
Gene: ENSMUSG00000047036
AA Change: D289E

Domain	Start	End	E-Value	Type
SCAN	48	160	1.07e-59	SMART
KRAB	219	278	6.74e-30	SMART
low complexity region	320	334	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
ZnF_C2H2	470	492	2.09e-3	SMART
ZnF_C2H2	498	520	3.16e-3	SMART
ZnF_C2H2	553	575	1.41e0	SMART
ZnF_C2H2	581	603	1.04e-3	SMART
ZnF_C2H2	634	656	1.6e-4	SMART
ZnF_C2H2	662	686	6.78e-3	SMART
ZnF_C2H2	718	740	1.67e-2	SMART
ZnF_C2H2	746	768	1.2e-3	SMART
ZnF_C2H2	796	818	2.02e-1	SMART
ZnF_C2H2	824	846	2.95e-3	SMART
ZnF_C2H2	933	955	2.49e-1	SMART
ZnF_C2H2	961	983	4.61e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213971
AA Change: D115E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214162

Predicted Effect

probably benign
Transcript: ENSMUST00000214626
AA Change: D289E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216063
AA Change: D289E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216243

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot9	G	A	X: 155,271,945		probably benign	Het
Akap10	A	G	11: 61,915,305	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060	A162S	probably damaging	Het
Auts2	A	G	5: 131,476,587		probably benign	Het
Cog6	A	T	3: 52,992,819	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Cyp2d11	A	C	15: 82,391,855	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732	C36S	probably damaging	Het
F5	A	G	1: 164,186,779	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858		probably benign	Het
Gm6408	G	T	5: 146,484,436	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340		probably benign	Het
Lrriq1	T	C	10: 103,170,856	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567		probably benign	Het
Msantd1	T	A	5: 34,923,467	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485		probably benign	Het
Nbn	T	A	4: 15,976,163	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421		probably benign	Het
Pkn3	A	G	2: 30,090,341	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151		probably benign	Het
Prdm10	T	C	9: 31,340,407	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185	T284I	unknown	Het
Psma3	T	C	12: 70,978,748	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365		noncoding transcript	Het
Tex11	A	G	X: 100,916,572	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661	D1131E	probably benign	Het

Other mutations in Zfp445

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02427:Zfp445	APN	9	122852230	missense	probably benign	0.02
IGL02608:Zfp445	APN	9	122861875	missense	probably damaging	0.98
IGL03216:Zfp445	APN	9	122851978	missense	probably damaging	0.99
IGL03218:Zfp445	APN	9	122857529	missense	probably benign	0.00
Nonpareil	UTSW	9	122852345	missense	probably benign	0.02
R0080:Zfp445	UTSW	9	122852356	missense	probably damaging	0.98
R0082:Zfp445	UTSW	9	122852356	missense	probably damaging	0.98
R0453:Zfp445	UTSW	9	122853513	missense	possibly damaging	0.92
R0610:Zfp445	UTSW	9	122852981	missense	probably benign	0.44
R0730:Zfp445	UTSW	9	122861758	missense	probably damaging	1.00
R1622:Zfp445	UTSW	9	122852549	missense	possibly damaging	0.90
R1719:Zfp445	UTSW	9	122852642	missense	probably damaging	1.00
R2108:Zfp445	UTSW	9	122852240	missense	probably benign	0.13
R2117:Zfp445	UTSW	9	122853437	nonsense	probably null
R2143:Zfp445	UTSW	9	122853482	missense	possibly damaging	0.70
R2162:Zfp445	UTSW	9	122852476	missense	probably damaging	0.99
R3620:Zfp445	UTSW	9	122852768	missense	probably benign
R3621:Zfp445	UTSW	9	122852768	missense	probably benign
R3829:Zfp445	UTSW	9	122853077	missense	probably benign
R3831:Zfp445	UTSW	9	122852476	missense	probably damaging	0.99
R4172:Zfp445	UTSW	9	122851937	missense	probably benign	0.01
R4180:Zfp445	UTSW	9	122852524	missense	probably benign	0.00
R4747:Zfp445	UTSW	9	122857150	missense	possibly damaging	0.81
R4923:Zfp445	UTSW	9	122852293	missense	probably benign
R5010:Zfp445	UTSW	9	122852345	missense	probably benign	0.02
R5578:Zfp445	UTSW	9	122853337	missense	probably benign	0.00
R5759:Zfp445	UTSW	9	122853146	missense	probably benign	0.00
R5864:Zfp445	UTSW	9	122853487	missense	probably benign	0.00
R5865:Zfp445	UTSW	9	122853487	missense	probably benign	0.00
R5987:Zfp445	UTSW	9	122853886	missense	probably benign
R6481:Zfp445	UTSW	9	122857566	missense	probably benign	0.00
R6738:Zfp445	UTSW	9	122862058	missense	probably damaging	0.96
R6917:Zfp445	UTSW	9	122862294	splice site	probably null
R7137:Zfp445	UTSW	9	122854778	missense	probably damaging	1.00
R7224:Zfp445	UTSW	9	122852143	missense	probably benign	0.28
R8056:Zfp445	UTSW	9	122851967	missense	possibly damaging	0.95
R8263:Zfp445	UTSW	9	122852813	missense	probably benign	0.00
R8313:Zfp445	UTSW	9	122853630	missense	possibly damaging	0.48
R8929:Zfp445	UTSW	9	122853667	missense	probably benign	0.11
R9250:Zfp445	UTSW	9	122852027	missense	possibly damaging	0.91
R9361:Zfp445	UTSW	9	122861822	missense	probably damaging	0.99
R9396:Zfp445	UTSW	9	122852516	missense	probably benign	0.00
R9549:Zfp445	UTSW	9	122856779	missense	probably damaging	1.00
R9618:Zfp445	UTSW	9	122856723	missense	probably damaging	0.99
R9730:Zfp445	UTSW	9	122852425	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGGCCGATTATAAGTCAAGCAG -3'
(R):5'- GCTATCACAAATGGCTGGCC -3'

Sequencing Primer
(F):5'- CAGAAAGTGGCCCAGGGTTC -3'
(R):5'- GCCAGGCATTCTGTCCTAG -3'

Posted On

2015-03-18