Mutagenetix > Incidental Mutations

Incidental Mutation 'R1614:Zfp112'

176995

Institutional Source

Beutler Lab

Gene Symbol

Zfp112

Ensembl Gene

ENSMUSG00000052675

Gene Name

zinc finger protein 112

Synonyms

MMRRC Submission

039651-MU

Accession Numbers

Genbank: NM_021307; MGI: 1929115

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24112314-24127952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24126599 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 664 (C664F)

Ref Sequence

ENSEMBL: ENSMUSP00000150734 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000005413
AA Change: C668F

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

SMART Domains

Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: C668F

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: C662F

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

SMART Domains

Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: C662F

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: C664F

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

Meta Mutation Damage Score

0.636

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	T	G	11: 85,172,864	S28A	possibly damaging	Het
Arl9	A	G	5: 77,010,565	T165A	probably benign	Het
Atpaf1	A	T	4: 115,796,757	K201N	possibly damaging	Het
Cacna1b	G	T	2: 24,690,807	Q676K	possibly damaging	Het
Ccdc88c	A	T	12: 100,912,984	H1959Q	probably benign	Het
Cep162	T	C	9: 87,212,932	D808G	probably damaging	Het
Chtf18	A	G	17: 25,727,090	L42P	probably benign	Het
Cox7c	A	G	13: 86,045,785	F40L	probably benign	Het
Dock7	C	T	4: 99,061,280	V442I	probably benign	Het
Dst	T	C	1: 34,275,263	F4198S	probably damaging	Het
Fam13a	T	A	6: 58,940,184	D569V	probably damaging	Het
Gm6741	T	A	17: 91,236,996	H62Q	probably benign	Het
Gnptab	A	G	10: 88,414,589	T172A	probably benign	Het
Greb1	A	G	12: 16,701,171	S1013P	probably damaging	Het
Insl5	A	T	4: 103,026,649	L25*	probably null	Het
Ipo13	A	G	4: 117,904,618	S462P	probably benign	Het
Itgb1	G	A	8: 128,720,065	C401Y	probably damaging	Het
Kcnh7	G	T	2: 62,850,604	A213E	probably benign	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Mesp2	T	C	7: 79,811,619	S231P	probably benign	Het
Nabp1	T	C	1: 51,471,352	N164D	possibly damaging	Het
Nop53	A	G	7: 15,945,965	V30A	probably benign	Het
Olfr1246	T	A	2: 89,590,696	I140L	possibly damaging	Het
Olfr1278	T	A	2: 111,293,066	V266E	probably damaging	Het
Olfr1318	T	A	2: 112,156,517	C189S	probably damaging	Het
Olfr346	T	G	2: 36,688,309	Y102*	probably null	Het
Pcsk5	G	A	19: 17,515,256	R918C	probably damaging	Het
Pecam1	T	C	11: 106,681,079	D554G	probably benign	Het
Polr2a	T	C	11: 69,743,373	I744V	possibly damaging	Het
Pop1	C	A	15: 34,530,210	A918D	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prmt3	A	T	7: 49,826,719	I359F	possibly damaging	Het
Proz	G	A	8: 13,066,904	C152Y	probably damaging	Het
Ptgfr	A	C	3: 151,801,779	Y316D	probably benign	Het
Ralgapa2	G	T	2: 146,388,612	S1011Y	probably damaging	Het
Rnf43	C	T	11: 87,731,659	R529*	probably null	Het
Slc17a6	G	A	7: 51,646,277		probably benign	Het
Slc25a19	A	T	11: 115,616,623	C224*	probably null	Het
Smarcd3	A	G	5: 24,594,876	S299P	possibly damaging	Het
Stard9	T	C	2: 120,697,675	F1471S	possibly damaging	Het
Strada	A	C	11: 106,168,319	V211G	probably damaging	Het
Tom1l1	T	C	11: 90,683,254	E68G	probably damaging	Het
Vmn2r27	T	G	6: 124,223,934	I355L	probably benign	Het
Vmn2r68	A	T	7: 85,221,738	M779K	possibly damaging	Het
Zbtb18	T	C	1: 177,447,170	L23P	probably damaging	Het
Zfp955a	A	T	17: 33,242,332	N275K	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGCCGTACAGGCTTCAGTCAAAC -3'
(R):5'- TGGTGTGCTTCAAGGCGTGAAC -3'

Sequencing Primer
(F):5'- cacacaggagagaagccatac -3'
(R):5'- TTCAAGGCGTGAACCCTGAC -3'

Posted On

2014-04-24