Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Zfp112'

719740

Institutional Source

Beutler Lab

Gene Symbol

Zfp112

Ensembl Gene

ENSMUSG00000052675

Gene Name

zinc finger protein 112

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_021307; MGI: 1929115

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24112314-24127952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24127087 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 831 (Y831H)

Ref Sequence

ENSEMBL: ENSMUSP00000005413 (fasta)

Gene Model

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

AlphaFold

Q0VAW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000005413
AA Change: Y831H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: Y831H

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: Y825H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: Y825H

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 damaging
Transcript: ENSMUST00000215113
AA Change: Y827H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,153,162	K341E	possibly damaging	Het
Adgra3	A	G	5: 49,960,865	Y1114H	possibly damaging	Het
Atp5j	A	G	16: 84,828,470	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,731,473	I83L	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bglap3	T	C	3: 88,368,832	D71G	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,551,046	K15E	probably benign	Het
Chrm3	A	T	13: 9,877,426	W525R	probably damaging	Het
Col7a1	A	T	9: 108,955,352	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnaic1	A	G	4: 41,629,790		probably null	Het
Dnhd1	G	A	7: 105,695,533	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,317,239	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,860,600	T291A	probably benign	Het
Gm5767	G	T	16: 8,683,313	C11F		Het
Golga2	G	T	2: 32,288,301		probably benign	Het
Hapln2	T	A	3: 88,024,473		probably null	Het
Ing1	T	C	8: 11,561,889	L203P	probably benign	Het
Med1	T	C	11: 98,171,760	T171A	possibly damaging	Het
Mib2	A	T	4: 155,657,495	L387H	probably damaging	Het
Mier1	A	G	4: 103,162,561	N494S	probably benign	Het
Myof	A	G	19: 37,907,606	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,671,513	V270D		Het
Nup160	T	C	2: 90,729,744	L1271S	possibly damaging	Het
Osgep	A	T	14: 50,924,662		probably null	Het
Ptgfr	G	T	3: 151,835,808	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,230,727	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Smu1	A	G	4: 40,755,671	S65P	probably benign	Het
Spef2	T	C	15: 9,601,799	Y1459C	unknown	Het
Spen	A	G	4: 141,471,704	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,516,845		probably benign	Het
Timm44	G	A	8: 4,260,576	T392I	possibly damaging	Het
Tnc	A	T	4: 63,966,584	I1818N	probably damaging	Het
Trpm1	G	T	7: 64,153,868		probably benign	Het
Ttc14	A	G	3: 33,803,198	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,387,184	R23G	probably damaging	Het
Usp40	T	C	1: 88,007,395	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,374,887	S567R	probably benign	Het
Zfy2	T	A	Y: 2,108,596	T355S		Het

Other mutations in Zfp112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Zfp112	APN	7	24122243	missense	probably damaging	1.00
IGL00575:Zfp112	APN	7	24126332	missense	probably damaging	1.00
IGL00944:Zfp112	APN	7	24125596	missense	probably benign	0.02
IGL01662:Zfp112	APN	7	24125954	missense	probably benign	0.44
IGL03383:Zfp112	APN	7	24125678	missense	probably damaging	1.00
2107:Zfp112	UTSW	7	24126841	missense	probably damaging	1.00
FR4737:Zfp112	UTSW	7	24125407	small insertion	probably benign
R0566:Zfp112	UTSW	7	24125677	missense	probably benign	0.09
R0581:Zfp112	UTSW	7	24125863	missense	probably damaging	0.97
R0613:Zfp112	UTSW	7	24127028	missense	probably benign	0.33
R1521:Zfp112	UTSW	7	24125785	missense	probably damaging	0.97
R1614:Zfp112	UTSW	7	24126599	missense	probably damaging	1.00
R1827:Zfp112	UTSW	7	24124960	missense	probably damaging	1.00
R1906:Zfp112	UTSW	7	24122295	missense	probably benign	0.34
R1920:Zfp112	UTSW	7	24125237	missense	probably benign	0.01
R2008:Zfp112	UTSW	7	24126751	missense	probably damaging	1.00
R2012:Zfp112	UTSW	7	24125300	missense	possibly damaging	0.69
R2192:Zfp112	UTSW	7	24125438	missense	probably damaging	0.98
R2985:Zfp112	UTSW	7	24122295	missense	probably benign	0.34
R4191:Zfp112	UTSW	7	24126143	missense	probably benign	0.19
R4373:Zfp112	UTSW	7	24125048	missense	probably damaging	0.99
R4374:Zfp112	UTSW	7	24126373	missense	probably damaging	1.00
R4674:Zfp112	UTSW	7	24126974	missense	probably damaging	1.00
R4676:Zfp112	UTSW	7	24126260	missense	probably damaging	0.97
R5023:Zfp112	UTSW	7	24126484	missense	probably damaging	0.99
R5198:Zfp112	UTSW	7	24124856	missense	possibly damaging	0.49
R6559:Zfp112	UTSW	7	24126463	nonsense	probably null
R6835:Zfp112	UTSW	7	24125806	missense	probably damaging	1.00
R6946:Zfp112	UTSW	7	24125341	missense	probably damaging	0.98
R7263:Zfp112	UTSW	7	24125527	missense	probably benign	0.04
R7512:Zfp112	UTSW	7	24125179	missense	possibly damaging	0.73
R7533:Zfp112	UTSW	7	24125327	missense	possibly damaging	0.58
R7535:Zfp112	UTSW	7	24126710	missense	probably damaging	1.00
R8179:Zfp112	UTSW	7	24125638	missense	probably benign	0.10
R8516:Zfp112	UTSW	7	24123964	missense	probably benign
R8525:Zfp112	UTSW	7	24125897	missense	probably benign	0.38
R8701:Zfp112	UTSW	7	24125740	missense	probably damaging	1.00
R8756:Zfp112	UTSW	7	24125572	missense	probably benign	0.03
R8853:Zfp112	UTSW	7	24123965	synonymous	silent
R8994:Zfp112	UTSW	7	24126065	missense	probably benign	0.06
R9295:Zfp112	UTSW	7	24125380	missense	probably benign
R9530:Zfp112	UTSW	7	24125240	missense	probably benign	0.01
R9559:Zfp112	UTSW	7	24126683	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCAGTGAGAGTTCCCGCC -3'
(R):5'- ATGGTGGGTACAAACAGTATGTCTC -3'

Sequencing Primer
(F):5'- CAGGCACATCAGAGGATCCATG -3'
(R):5'- ACTCTCCACTCCTGTAGA -3'

Posted On

2022-07-18