Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Zfp110'

165107

Institutional Source

Beutler Lab

Gene Symbol

Zfp110

Ensembl Gene

ENSMUSG00000058638

Gene Name

zinc finger protein 110

Synonyms

Nrif1, NRIF, 2900024E01Rik

MMRRC Submission

039219-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12834761-12850577 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 12846794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132060 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000004614

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638

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

probably null
Transcript: ENSMUST00000004614

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638

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

probably null
Transcript: ENSMUST00000168247

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638

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

probably null
Transcript: ENSMUST00000168247

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638

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

probably null
Transcript: ENSMUST00000168247

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638

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

0.8337

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Prss16	A	G	13: 22,006,968		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly 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
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
R6083:Zfp110	UTSW	7	12844675	missense	possibly damaging	0.95
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'- TCCAAGTGGTCCAGGCAGAGTAAC -3'
(R):5'- TTCCACATAGGCCCAGGAACTCAG -3'

Sequencing Primer
(F):5'- TCCAGGCAGAGTAACACACTG -3'
(R):5'- TAAAGTGGCCTATCTTCTGTGAAGC -3'

Posted On

2014-03-28