Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Zfp112'

669067

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 #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24112314-24127952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24125740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 382 (R382G)

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: R382G

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

SMART Domains

Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: R382G

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: R376G

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

SMART Domains

Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: R376G

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: R378G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	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
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
R9537:Zfp112	UTSW	7	24127087	missense	probably damaging	1.00
R9559:Zfp112	UTSW	7	24126683	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGTCATCCAGGTCTTGAG -3'
(R):5'- ACTCTGTGTGGAATGTTCAGAC -3'

Sequencing Primer
(F):5'- TCATCCAGGTCTTGAGGCAGG -3'
(R):5'- TGGAATGTTCAGACTTGAGCAG -3'

Posted On

2021-04-30