Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Zfp112'

583512

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: 0.124) question?

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24112314-24127952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24126710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 705 (Y705F)

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: Y705F

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

SMART Domains

Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: Y705F

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: Y699F

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

SMART Domains

Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: Y699F

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: Y701F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,900	S159A	probably benign	Het
Abca7	T	A	10: 80,001,629	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,504,253	T415A	probably benign	Het
Akt3	A	T	1: 177,097,034	V165D	probably damaging	Het
Cbr2	T	A	11: 120,729,802	I219F	probably damaging	Het
Cdh20	T	A	1: 104,975,043	D486E	probably damaging	Het
Cenpe	A	G	3: 135,243,762	S103G	possibly damaging	Het
Chd4	T	A	6: 125,128,873	S1818T	probably benign	Het
Chst5	T	C	8: 111,890,163	D275G	probably damaging	Het
Clca1	A	G	3: 145,018,567	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,070,272	Y239H	probably benign	Het
Ddx25	A	G	9: 35,543,655	F446L	possibly damaging	Het
Dgkb	T	C	12: 38,136,647	L265P	probably damaging	Het
Dis3	A	G	14: 99,089,979	S363P	probably benign	Het
Disp3	T	C	4: 148,242,866	E1187G	probably damaging	Het
Dopey2	G	A	16: 93,806,361	G2061R	probably damaging	Het
Dsp	T	C	13: 38,192,789	S1517P	probably benign	Het
Epg5	T	A	18: 78,032,926	V2513E	probably benign	Het
Fryl	T	A	5: 73,098,196	T831S	probably benign	Het
Gm6309	A	T	5: 146,168,290	V271D	probably damaging	Het
H2-M2	G	T	17: 37,482,637	S159R	probably benign	Het
Helq	A	G	5: 100,790,133		probably null	Het
Herc1	G	C	9: 66,474,853	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 105,519,123	I87F	probably damaging	Het
Ice2	A	G	9: 69,432,078	N959S	probably damaging	Het
Ifi47	T	A	11: 49,096,625	D406E	probably damaging	Het
Ifit3	T	G	19: 34,587,880	S275R	probably damaging	Het
Insl5	C	A	4: 103,018,198	K118N	probably damaging	Het
Irf7	A	T	7: 141,264,637	F158I	probably benign	Het
Kat2b	T	C	17: 53,624,403	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,970,322	N102Y	probably damaging	Het
Krt13	C	T	11: 100,117,998	G410S	unknown	Het
Larp6	A	T	9: 60,724,154	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,501,857	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,297,753		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myom2	A	G	8: 15,117,679	Y1088C	probably damaging	Het
Mysm1	T	C	4: 94,952,215	N655D	probably benign	Het
Nbas	T	A	12: 13,279,389	S112T	probably damaging	Het
Neb	A	G	2: 52,165,103		probably null	Het
Noxred1	G	A	12: 87,233,432	A42V	probably benign	Het
Olfm5	G	A	7: 104,154,237	P340S	possibly damaging	Het
Olfr1031	T	A	2: 85,991,901	V28E	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr1505	A	G	19: 13,919,085	K22E	probably benign	Het
Olfr167	T	C	16: 19,514,794	T281A	probably damaging	Het
Olfr749	G	A	14: 50,736,665	P166S	probably benign	Het
Pccb	A	T	9: 100,994,562		probably null	Het
Pnn	T	A	12: 59,072,137	V502E	probably benign	Het
Pole2	A	T	12: 69,222,429	I98K	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 29,139,059	K111E	probably benign	Het
Rbbp6	G	A	7: 122,990,143	M351I	probably benign	Het
Rgs19	T	G	2: 181,691,308	H53P	probably damaging	Het
Rin1	A	T	19: 5,052,536	T369S	probably benign	Het
Rnaset2b	G	A	17: 6,991,739	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,776,587	P379S	probably damaging	Het
Sbno1	A	G	5: 124,413,279	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,919,758	L29Q	unknown	Het
Slc16a14	T	C	1: 84,913,122	Y154C	probably damaging	Het
Slc22a29	A	G	19: 8,169,978	F340S	probably damaging	Het
Slc6a4	T	G	11: 77,015,150	I259S	possibly damaging	Het
Smarca4	G	A	9: 21,647,625	V651I	possibly damaging	Het
Susd5	C	T	9: 114,064,040	A62V	possibly damaging	Het
Syt1	T	A	10: 108,627,422		probably null	Het
Taf10	T	C	7: 105,740,910	I218T	probably benign	Het
Tas1r1	C	A	4: 152,028,362	V745F	probably benign	Het
Tas2r125	C	A	6: 132,910,324	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,594,659	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 85,063,280	Q1184*	probably null	Het
Treml2	T	A	17: 48,302,819	V93D	probably damaging	Het
Trim11	G	A	11: 58,982,065	E192K	probably damaging	Het
Trim43a	A	G	9: 88,588,148	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,589	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,576,519	S235G	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Usp36	A	T	11: 118,262,046	S1084T	possibly damaging	Het
Vps39	T	A	2: 120,324,695	N550I	probably damaging	Het
Wdr47	A	G	3: 108,629,711	I572V	probably benign	Het
Zfp282	A	G	6: 47,904,944	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487	D524G	probably benign	Het
Zfp90	A	T	8: 106,424,268	K204N	possibly damaging	Het
Zmym2	T	C	14: 56,957,079	S1265P	probably damaging	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
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
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'- TGTAACTGGAGTTCCACCCC -3'
(R):5'- GCGGGAACTCTCACTGAATC -3'

Sequencing Primer
(F):5'- AGTAAGGCCTCAACTCTCCTGG -3'
(R):5'- ACTGAATCCCTTTGTGCAGG -3'

Posted On

2019-10-17