Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03033:Zfp120'

408529

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp120

Ensembl Gene

ENSMUSG00000068134

Gene Name

zinc finger protein 120

Synonyms

E030042N05Rik, MZF31

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL03033

Quality Score

Status

Chromosome

Chromosomal Location

149956327-149978598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149961794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 51 (D51E)

Ref Sequence

ENSEMBL: ENSMUSP00000105557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089207] [ENSMUST00000094538] [ENSMUST00000109931] [ENSMUST00000122859]

AlphaFold

Q8BZW4

Predicted Effect

probably benign
Transcript: ENSMUST00000089207
AA Change: D51E

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

SMART Domains

Protein: ENSMUSP00000086615
Gene: ENSMUSG00000068134
AA Change: D51E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
KRAB	28	91	1.7e-17	SMART
ZnF_C2H2	156	178	9.08e-4	SMART
ZnF_C2H2	184	206	3.44e-4	SMART
ZnF_C2H2	212	234	9.58e-3	SMART
ZnF_C2H2	240	262	1.95e-3	SMART
ZnF_C2H2	268	288	1.26e1	SMART
ZnF_C2H2	296	318	4.17e-3	SMART
ZnF_C2H2	324	346	5.29e-5	SMART
ZnF_C2H2	352	374	1.4e-4	SMART
ZnF_C2H2	408	430	2.71e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094538
AA Change: D51E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000092116
Gene: ENSMUSG00000068134
AA Change: D51E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
KRAB	28	89	1.01e-19	SMART
ZnF_C2H2	134	156	9.08e-4	SMART
ZnF_C2H2	162	184	3.44e-4	SMART
ZnF_C2H2	190	212	9.58e-3	SMART
ZnF_C2H2	218	240	1.95e-3	SMART
ZnF_C2H2	246	266	1.26e1	SMART
ZnF_C2H2	274	296	4.17e-3	SMART
ZnF_C2H2	302	324	5.29e-5	SMART
ZnF_C2H2	330	352	1.4e-4	SMART
ZnF_C2H2	386	408	2.71e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109931
AA Change: D51E

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105557
Gene: ENSMUSG00000068134
AA Change: D51E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
KRAB	28	89	1.01e-19	SMART
internal_repeat_1	96	130	3.31e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000122859
AA Change: D51E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114205
Gene: ENSMUSG00000068134
AA Change: D51E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
KRAB	28	80	1.68e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142792

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,452 (GRCm39)	T566S	probably benign	Het
Ap3b1	A	G	13: 94,585,003 (GRCm39)	T405A	probably benign	Het
Bicd2	G	T	13: 49,533,396 (GRCm39)	V587L	probably benign	Het
Bsn	A	T	9: 107,993,192 (GRCm39)	D853E	probably damaging	Het
Cacna1i	C	A	15: 80,246,440 (GRCm39)	N611K	probably damaging	Het
Capn11	A	G	17: 45,953,473 (GRCm39)	L227P	probably damaging	Het
Copb2	A	G	9: 98,452,426 (GRCm39)	N70S	probably benign	Het
Ddb1	T	C	19: 10,603,290 (GRCm39)	V866A	possibly damaging	Het
Dst	A	G	1: 34,208,826 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,551 (GRCm39)	Y117C	probably damaging	Het
Esyt1	T	G	10: 128,352,252 (GRCm39)	R758S	probably benign	Het
Gm20441	A	G	10: 75,607,326 (GRCm39)	F55S	probably damaging	Het
Gm20547	A	T	17: 35,078,492 (GRCm39)	M362K	probably damaging	Het
Gucy1b2	A	G	14: 62,653,393 (GRCm39)	V334A	probably benign	Het
Hnrnph3	A	T	10: 62,853,958 (GRCm39)	F53L	probably benign	Het
Kcnk18	C	T	19: 59,223,616 (GRCm39)	P254S	probably benign	Het
Lrfn5	T	A	12: 61,886,833 (GRCm39)	L207Q	probably damaging	Het
Lrp3	T	C	7: 34,902,052 (GRCm39)	M589V	possibly damaging	Het
Nlrp1b	A	G	11: 71,052,665 (GRCm39)	V918A	probably benign	Het
Nsg2	A	G	11: 31,951,836 (GRCm39)	T29A	probably damaging	Het
Or51b4	T	A	7: 103,530,724 (GRCm39)	H242L	probably damaging	Het
Pank4	C	T	4: 155,059,172 (GRCm39)	T435I	probably damaging	Het
Prom1	C	T	5: 44,163,502 (GRCm39)		probably null	Het
Prr14	G	T	7: 127,071,135 (GRCm39)	L3F	probably damaging	Het
Rfx7	A	T	9: 72,440,271 (GRCm39)		probably benign	Het
Rhbdl3	A	G	11: 80,237,653 (GRCm39)	N295S	probably damaging	Het
Ripk3	A	G	14: 56,024,622 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,269,092 (GRCm39)	N310I	possibly damaging	Het
Rpl23a	T	C	11: 78,072,408 (GRCm39)	Y74C	possibly damaging	Het
Rtp3	A	T	9: 110,815,162 (GRCm39)		probably benign	Het
Sbno1	A	T	5: 124,514,213 (GRCm39)	N1326K	probably damaging	Het
Sepsecs	T	C	5: 52,818,018 (GRCm39)	N253S	probably damaging	Het
Setd2	A	C	9: 110,380,343 (GRCm39)	E1386A	possibly damaging	Het
Sf3b3	T	C	8: 111,537,596 (GRCm39)	I1211V	possibly damaging	Het
Sh3tc2	G	A	18: 62,107,549 (GRCm39)	V187M	possibly damaging	Het
Slc30a6	G	T	17: 74,716,373 (GRCm39)	E136*	probably null	Het
Sptan1	T	A	2: 29,881,045 (GRCm39)	V438E	probably damaging	Het
Stab2	A	G	10: 86,832,667 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,635 (GRCm39)		probably benign	Het
Tmem198	A	G	1: 75,459,612 (GRCm39)	D189G	possibly damaging	Het
Tnfrsf8	C	A	4: 145,019,219 (GRCm39)	L205F	possibly damaging	Het
Vmn1r68	T	A	7: 10,262,074 (GRCm39)	E8V	probably damaging	Het
Wnk3	G	A	X: 150,059,924 (GRCm39)	D742N	probably damaging	Het
Xpc	A	T	6: 91,468,297 (GRCm39)		probably null	Het
Zfp113	A	T	5: 138,149,458 (GRCm39)		probably benign	Het
Zfp473	C	T	7: 44,382,522 (GRCm39)	V603M	probably benign	Het

Other mutations in Zfp120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Zfp120	APN	2	149,961,748 (GRCm39)	missense	possibly damaging	0.88
R0032:Zfp120	UTSW	2	149,959,512 (GRCm39)	missense	possibly damaging	0.94
R0032:Zfp120	UTSW	2	149,959,512 (GRCm39)	missense	possibly damaging	0.94
R1165:Zfp120	UTSW	2	149,961,849 (GRCm39)	missense	probably damaging	1.00
R1965:Zfp120	UTSW	2	149,959,318 (GRCm39)	missense	probably damaging	1.00
R1966:Zfp120	UTSW	2	149,959,318 (GRCm39)	missense	probably damaging	1.00
R4418:Zfp120	UTSW	2	149,960,105 (GRCm39)	missense	possibly damaging	0.79
R4902:Zfp120	UTSW	2	149,961,440 (GRCm39)	utr 3 prime	probably benign
R4910:Zfp120	UTSW	2	149,959,872 (GRCm39)	missense	probably damaging	0.96
R5108:Zfp120	UTSW	2	149,961,862 (GRCm39)	missense	probably damaging	0.98
R5521:Zfp120	UTSW	2	149,959,499 (GRCm39)	nonsense	probably null
R6280:Zfp120	UTSW	2	149,959,964 (GRCm39)	missense	possibly damaging	0.84
R8389:Zfp120	UTSW	2	149,959,327 (GRCm39)	missense	probably damaging	1.00
R8530:Zfp120	UTSW	2	149,959,168 (GRCm39)	missense	probably benign
R8871:Zfp120	UTSW	2	149,959,995 (GRCm39)	missense	probably benign	0.00
R9281:Zfp120	UTSW	2	149,959,615 (GRCm39)	missense	probably damaging	1.00
R9720:Zfp120	UTSW	2	149,959,197 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02