Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Zfp110'

482300

Institutional Source

Beutler Lab

Gene Symbol

Zfp110

Ensembl Gene

ENSMUSG00000058638

Gene Name

zinc finger protein 110

Synonyms

Nrif1, NRIF, 2900024E01Rik

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12834761-12850577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 12844675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 171 (E171A)

Ref Sequence

ENSEMBL: ENSMUSP00000132060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004614] [ENSMUST00000168247]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004614
AA Change: E171A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: E171A

Domain	Start	End	E-Value	Type
KRAB	18	78	1.38e-26	SMART
SCAN	158	269	1.48e-39	SMART
KRAB	284	351	2.94e-12	SMART
low complexity region	424	438	N/A	INTRINSIC
ZnF_C2H2	688	710	1.43e-1	SMART
ZnF_C2H2	716	738	2.24e-3	SMART
ZnF_C2H2	744	766	2.27e-4	SMART
ZnF_C2H2	772	794	6.32e-3	SMART
ZnF_C2H2	800	822	2.75e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137718

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168247
AA Change: E171A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: E171A

Domain	Start	End	E-Value	Type
KRAB	18	78	1.38e-26	SMART
SCAN	158	269	1.48e-39	SMART
KRAB	284	351	2.94e-12	SMART
low complexity region	424	438	N/A	INTRINSIC
ZnF_C2H2	688	710	1.43e-1	SMART
ZnF_C2H2	716	738	2.24e-3	SMART
ZnF_C2H2	744	766	2.27e-4	SMART
ZnF_C2H2	772	794	6.32e-3	SMART
ZnF_C2H2	800	822	2.75e-3	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

MGI Phenotype

PHENOTYPE: Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,878,851	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,963,996	I591F	unknown	Het
Ace	C	A	11: 105,985,267	Y816*	probably null	Het
Ahnak2	A	G	12: 112,782,612	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,782,999	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,907,751	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,992,748	T257A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,596,926	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,774,625	R305H	probably damaging	Het
Cyb5r4	C	T	9: 87,057,168	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,073,762	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,849,456	V394E	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Defb36	A	T	2: 152,604,488	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713	D263G	probably benign	Het
Dock10	T	C	1: 80,532,431	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,622,328		probably null	Het
Eif3e	A	G	15: 43,266,144	I196T	probably damaging	Het
Ercc4	T	A	16: 13,110,039	C24*	probably null	Het
Fmn1	A	G	2: 113,364,303	E116G	unknown	Het
Gnas	A	G	2: 174,297,862	M1V	probably null	Het
Grin2a	C	A	16: 9,579,540	M894I	probably benign	Het
Herc2	G	T	7: 56,228,505	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,755,293	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,755,294	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,712,056	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,619,817	F133C	possibly damaging	Het
Itih2	T	C	2: 10,108,894		probably benign	Het
Itsn1	T	C	16: 91,853,011	L191P	probably benign	Het
Kdr	T	C	5: 75,944,366	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,182,756	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,809,041	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,836,588	R38*	probably null	Het
Med13l	T	C	5: 118,721,486	V246A	possibly damaging	Het
Mlec	T	A	5: 115,148,049	T248S	probably benign	Het
Mslnl	T	A	17: 25,737,902	V54D	possibly damaging	Het
Muc16	G	A	9: 18,657,212	T1337I	unknown	Het
Nek7	C	T	1: 138,515,654	S187N	probably damaging	Het
Neto2	A	G	8: 85,640,585	V538A	probably benign	Het
Nktr	T	C	9: 121,750,136		probably benign	Het
Npy6r	A	G	18: 44,276,492	K327E	probably damaging	Het
Olfr1230	T	A	2: 89,297,024	D82V	probably damaging	Het
Olfr1245	T	C	2: 89,575,672	D18G	probably benign	Het
Olfr1463	A	T	19: 13,234,525	I92F	probably benign	Het
Olfr402	A	G	11: 74,155,570	M139V	possibly damaging	Het
Olfr705	A	G	7: 106,873,582	I221T	probably damaging	Het
Pcdhga4	A	T	18: 37,687,425	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,502,879	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,304,035	Y486*	probably null	Het
Plch2	A	G	4: 155,000,818	M272T	probably benign	Het
Rbm12	G	A	2: 156,097,726		probably benign	Het
Rgs19	T	C	2: 181,689,507	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,210,066	N145S	probably damaging	Het
Rnf4	T	A	5: 34,351,221		probably null	Het
Rpa1	T	C	11: 75,314,911	T207A	probably damaging	Het
Rufy4	A	C	1: 74,129,397	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,422,985	S717R	probably benign	Het
Sin3a	A	T	9: 57,107,540	I682F	probably damaging	Het
Sipa1l2	A	T	8: 125,468,473	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,597	I23V	unknown	Het
Slitrk5	A	G	14: 111,681,725	N927S	probably benign	Het
Smc6	A	G	12: 11,276,353	K117R	possibly damaging	Het
Sod2	G	A	17: 13,008,031		probably benign	Het
Stxbp1	A	G	2: 32,796,018	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,147,380	L209F	probably damaging	Het
Tll1	G	T	8: 64,038,586		probably null	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Trim30b	A	G	7: 104,366,142	V13A	probably damaging	Het
Trip11	G	A	12: 101,889,742	T425I	probably benign	Het
Ttn	C	A	2: 76,889,973		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ush2a	T	A	1: 188,267,023	S177T	probably damaging	Het
Usp40	A	T	1: 87,978,559	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,272,719	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,354,758	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,196,318	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,581,881	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,406,503	I809N	probably damaging	Het
Wdr7	G	A	18: 63,728,469	G184D	probably damaging	Het
Wnk1	C	T	6: 120,037,601	G11D	probably damaging	Het
Zkscan6	T	C	11: 65,815,931	V134A	probably damaging	Het

Other mutations in Zfp110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Zfp110	APN	7	12849159	missense	probably benign	0.38
IGL01094:Zfp110	APN	7	12849796	missense	probably damaging	1.00
IGL01576:Zfp110	APN	7	12849671	missense	probably damaging	1.00
IGL01859:Zfp110	APN	7	12849540	missense	possibly damaging	0.86
IGL02003:Zfp110	APN	7	12849905	nonsense	probably null
R0122:Zfp110	UTSW	7	12848597	missense	possibly damaging	0.51
R0357:Zfp110	UTSW	7	12836375	missense	probably damaging	0.98
R0383:Zfp110	UTSW	7	12849260	missense	probably benign	0.00
R0725:Zfp110	UTSW	7	12836363	missense	possibly damaging	0.52
R0926:Zfp110	UTSW	7	12849881	nonsense	probably null
R1146:Zfp110	UTSW	7	12846794	critical splice acceptor site	probably null
R1146:Zfp110	UTSW	7	12846794	critical splice acceptor site	probably null
R1472:Zfp110	UTSW	7	12848541	missense	possibly damaging	0.85
R1663:Zfp110	UTSW	7	12848642	missense	probably benign	0.08
R1975:Zfp110	UTSW	7	12848502	missense	probably benign	0.00
R2046:Zfp110	UTSW	7	12849422	missense	probably benign	0.00
R2296:Zfp110	UTSW	7	12849540	missense	probably damaging	0.97
R2341:Zfp110	UTSW	7	12849186	missense	probably benign	0.04
R4332:Zfp110	UTSW	7	12844571	nonsense	probably null
R5892:Zfp110	UTSW	7	12848478	missense	probably benign	0.00
R5955:Zfp110	UTSW	7	12848745	missense	possibly damaging	0.85
R6115:Zfp110	UTSW	7	12849774	missense	probably damaging	0.98
R7187:Zfp110	UTSW	7	12849826	nonsense	probably null
R7455:Zfp110	UTSW	7	12848057	missense	probably benign
R7570:Zfp110	UTSW	7	12849340	missense	possibly damaging	0.94
R7727:Zfp110	UTSW	7	12848995	missense	possibly damaging	0.91
R7895:Zfp110	UTSW	7	12837093	missense	possibly damaging	0.86
R8179:Zfp110	UTSW	7	12844571	nonsense	probably null
R8703:Zfp110	UTSW	7	12848961	missense	probably benign
R9207:Zfp110	UTSW	7	12848558	missense	probably benign	0.33
R9794:Zfp110	UTSW	7	12844594	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAGATCGAGGTTGTTGAGGTCC -3'
(R):5'- ATCGTCCTTAGACACCGAGG -3'

Posted On

2017-07-14