Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00575:Zfp112'

5307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp112

Ensembl Gene

ENSMUSG00000052675

Gene Name

zinc finger protein 112

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL00575

Quality Score

Status

Chromosome

Chromosomal Location

23811739-23827377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23825757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 573 (Y573F)

Ref Sequence

ENSEMBL: ENSMUSP00000113031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005413] [ENSMUST00000120006] [ENSMUST00000215113]

AlphaFold

Q0VAW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000005413
AA Change: Y579F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: Y579F

Domain	Start	End	E-Value	Type
KRAB	8	68	7.93e-27	SMART
low complexity region	385	397	N/A	INTRINSIC
ZnF_C2H2	523	545	4.11e-2	SMART
ZnF_C2H2	551	573	3.44e-4	SMART
ZnF_C2H2	579	601	1.6e-4	SMART
ZnF_C2H2	607	629	1.5e-4	SMART
ZnF_C2H2	635	657	3.89e-3	SMART
ZnF_C2H2	663	685	1.58e-3	SMART
ZnF_C2H2	691	713	6.42e-4	SMART
ZnF_C2H2	719	741	5.99e-4	SMART
ZnF_C2H2	747	769	7.78e-3	SMART
ZnF_C2H2	775	797	3.95e-4	SMART
ZnF_C2H2	803	825	2.01e-5	SMART
ZnF_C2H2	831	853	1.36e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120006
AA Change: Y573F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: Y573F

Domain	Start	End	E-Value	Type
KRAB	2	62	7.93e-27	SMART
low complexity region	379	391	N/A	INTRINSIC
ZnF_C2H2	517	539	4.11e-2	SMART
ZnF_C2H2	545	567	3.44e-4	SMART
ZnF_C2H2	573	595	1.6e-4	SMART
ZnF_C2H2	601	623	1.5e-4	SMART
ZnF_C2H2	629	651	3.89e-3	SMART
ZnF_C2H2	657	679	1.58e-3	SMART
ZnF_C2H2	685	707	6.42e-4	SMART
ZnF_C2H2	713	735	5.99e-4	SMART
ZnF_C2H2	741	763	7.78e-3	SMART
ZnF_C2H2	769	791	3.95e-4	SMART
ZnF_C2H2	797	819	2.01e-5	SMART
ZnF_C2H2	825	847	1.36e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215113
AA Change: Y575F

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fabp9	A	G	3: 10,258,843 (GRCm39)	V99A	probably damaging	Het
Gramd1b	T	A	9: 40,238,707 (GRCm39)		probably benign	Het
Mrgpra9	A	T	7: 46,885,053 (GRCm39)	F205I	possibly damaging	Het
Nav3	A	T	10: 109,600,626 (GRCm39)	S1334T	probably damaging	Het
Pglyrp4	A	T	3: 90,638,098 (GRCm39)	Q137H	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Spata31e2	T	A	1: 26,722,013 (GRCm39)	T1056S	possibly damaging	Het
Spata31e3	C	A	13: 50,400,752 (GRCm39)	G525W	probably damaging	Het
Tubb2b	A	G	13: 34,313,244 (GRCm39)	Y51H	probably damaging	Het

Other mutations in Zfp112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Zfp112	APN	7	23,821,668 (GRCm39)	missense	probably damaging	1.00
IGL00944:Zfp112	APN	7	23,825,021 (GRCm39)	missense	probably benign	0.02
IGL01662:Zfp112	APN	7	23,825,379 (GRCm39)	missense	probably benign	0.44
IGL03383:Zfp112	APN	7	23,825,103 (GRCm39)	missense	probably damaging	1.00
2107:Zfp112	UTSW	7	23,826,266 (GRCm39)	missense	probably damaging	1.00
FR4737:Zfp112	UTSW	7	23,824,832 (GRCm39)	small insertion	probably benign
R0566:Zfp112	UTSW	7	23,825,102 (GRCm39)	missense	probably benign	0.09
R0581:Zfp112	UTSW	7	23,825,288 (GRCm39)	missense	probably damaging	0.97
R0613:Zfp112	UTSW	7	23,826,453 (GRCm39)	missense	probably benign	0.33
R1521:Zfp112	UTSW	7	23,825,210 (GRCm39)	missense	probably damaging	0.97
R1614:Zfp112	UTSW	7	23,826,024 (GRCm39)	missense	probably damaging	1.00
R1827:Zfp112	UTSW	7	23,824,385 (GRCm39)	missense	probably damaging	1.00
R1906:Zfp112	UTSW	7	23,821,720 (GRCm39)	missense	probably benign	0.34
R1920:Zfp112	UTSW	7	23,824,662 (GRCm39)	missense	probably benign	0.01
R2008:Zfp112	UTSW	7	23,826,176 (GRCm39)	missense	probably damaging	1.00
R2012:Zfp112	UTSW	7	23,824,725 (GRCm39)	missense	possibly damaging	0.69
R2192:Zfp112	UTSW	7	23,824,863 (GRCm39)	missense	probably damaging	0.98
R2985:Zfp112	UTSW	7	23,821,720 (GRCm39)	missense	probably benign	0.34
R4191:Zfp112	UTSW	7	23,825,568 (GRCm39)	missense	probably benign	0.19
R4373:Zfp112	UTSW	7	23,824,473 (GRCm39)	missense	probably damaging	0.99
R4374:Zfp112	UTSW	7	23,825,798 (GRCm39)	missense	probably damaging	1.00
R4674:Zfp112	UTSW	7	23,826,399 (GRCm39)	missense	probably damaging	1.00
R4676:Zfp112	UTSW	7	23,825,685 (GRCm39)	missense	probably damaging	0.97
R5023:Zfp112	UTSW	7	23,825,909 (GRCm39)	missense	probably damaging	0.99
R5198:Zfp112	UTSW	7	23,824,281 (GRCm39)	missense	possibly damaging	0.49
R6559:Zfp112	UTSW	7	23,825,888 (GRCm39)	nonsense	probably null
R6835:Zfp112	UTSW	7	23,825,231 (GRCm39)	missense	probably damaging	1.00
R6946:Zfp112	UTSW	7	23,824,766 (GRCm39)	missense	probably damaging	0.98
R7263:Zfp112	UTSW	7	23,824,952 (GRCm39)	missense	probably benign	0.04
R7512:Zfp112	UTSW	7	23,824,604 (GRCm39)	missense	possibly damaging	0.73
R7533:Zfp112	UTSW	7	23,824,752 (GRCm39)	missense	possibly damaging	0.58
R7535:Zfp112	UTSW	7	23,826,135 (GRCm39)	missense	probably damaging	1.00
R8179:Zfp112	UTSW	7	23,825,063 (GRCm39)	missense	probably benign	0.10
R8516:Zfp112	UTSW	7	23,823,389 (GRCm39)	missense	probably benign
R8525:Zfp112	UTSW	7	23,825,322 (GRCm39)	missense	probably benign	0.38
R8701:Zfp112	UTSW	7	23,825,165 (GRCm39)	missense	probably damaging	1.00
R8756:Zfp112	UTSW	7	23,824,997 (GRCm39)	missense	probably benign	0.03
R8853:Zfp112	UTSW	7	23,823,390 (GRCm39)	synonymous	silent
R8994:Zfp112	UTSW	7	23,825,490 (GRCm39)	missense	probably benign	0.06
R9295:Zfp112	UTSW	7	23,824,805 (GRCm39)	missense	probably benign
R9530:Zfp112	UTSW	7	23,824,665 (GRCm39)	missense	probably benign	0.01
R9537:Zfp112	UTSW	7	23,826,512 (GRCm39)	missense	probably damaging	1.00
R9559:Zfp112	UTSW	7	23,826,108 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20