Mutagenetix > Incidental Mutation

Incidental Mutation 'R2985:Zfp112'

257779

Institutional Source

Beutler Lab

Gene Symbol

Zfp112

Ensembl Gene

ENSMUSG00000052675

Gene Name

zinc finger protein 112

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2985 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23811739-23827377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23821720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 20 (D20G)

Ref Sequence

ENSEMBL: ENSMUSP00000113031 (fasta)

Gene Model

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

AlphaFold

Q0VAW7

Predicted Effect

probably benign
Transcript: ENSMUST00000005413
AA Change: D26G

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: D26G

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 benign
Transcript: ENSMUST00000120006
AA Change: D20G

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: D20G

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

probably benign
Transcript: ENSMUST00000215113
AA Change: D26G

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Ccdc83	A	G	7: 89,885,575 (GRCm39)		probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cul1	T	A	6: 47,479,441 (GRCm39)	F236I	probably damaging	Het
Etl4	T	C	2: 20,786,660 (GRCm39)	V470A	probably damaging	Het
Fndc1	T	C	17: 7,975,155 (GRCm39)	E1428G	possibly damaging	Het
Gal3st1	A	G	11: 3,948,618 (GRCm39)	Y275C	probably damaging	Het
Jakmip2	G	A	18: 43,704,246 (GRCm39)	T366I	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Obscn	A	G	11: 59,023,915 (GRCm39)	F585S	probably damaging	Het
Or8b56	G	A	9: 38,739,406 (GRCm39)	V140I	probably benign	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Pcdha9	A	G	18: 37,131,255 (GRCm39)	N108S	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,290 (GRCm39)	S501G	probably benign	Het
Pls1	G	A	9: 95,667,635 (GRCm39)	T91M	possibly damaging	Het
Prr12	G	C	7: 44,695,436 (GRCm39)	S1343R	unknown	Het
Trpm5	G	T	7: 142,636,675 (GRCm39)	L421I	probably damaging	Het
Ttn	A	T	2: 76,574,618 (GRCm39)	V25425E	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
IGL00575:Zfp112	APN	7	23,825,757 (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
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

Predicted Primers

PCR Primer
(F):5'- ATGCACATGGATTTCCTTTGCTG -3'
(R):5'- CAGAGTTTGCCTGGAAGGAG -3'

Sequencing Primer
(F):5'- CCCTTATAGTGGATGGATCTAGC -3'
(R):5'- AGCCATGAGAACCTTCCGTG -3'

Posted On

2015-01-11