Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Zfp110'

457242

Institutional Source

Beutler Lab

Gene Symbol

Zfp110

Ensembl Gene

ENSMUSG00000058638

Gene Name

zinc finger protein 110

Synonyms

Nrif1, NRIF, 2900024E01Rik

MMRRC Submission

044093-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12834761-12850577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12848478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 351 (T351I)

Ref Sequence

ENSEMBL: ENSMUSP00000132060 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004614
AA Change: T351I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: T351I

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 benign
Transcript: ENSMUST00000168247
AA Change: T351I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: T351I

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 99,979,265		probably benign	Het
Abcb11	C	T	2: 69,261,500	A893T	probably damaging	Het
Adtrp	A	T	13: 41,828,206	N30K	probably benign	Het
Alms1	T	A	6: 85,620,903	S904T	probably damaging	Het
Cep170	T	A	1: 176,755,387		probably null	Het
Cntnap3	A	G	13: 64,799,180	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,547,140	E4G	probably benign	Het
Depdc1a	G	C	3: 159,526,669	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,337,593		probably null	Het
Enox1	A	G	14: 77,486,017		probably benign	Het
Fam107b	A	G	2: 3,778,564	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,564,068	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183	T1252K	probably damaging	Het
Fubp1	A	G	3: 152,218,314		probably benign	Het
Gm20402	G	A	3: 52,268,949	A50T	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gzmk	C	T	13: 113,173,922		probably null	Het
Ino80	A	T	2: 119,439,547		probably benign	Het
Ints8	T	C	4: 11,223,813	T677A	probably damaging	Het
Kat6a	A	G	8: 22,938,289	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,843,418	T498A	probably damaging	Het
Lrp2	T	A	2: 69,442,776	T4043S	probably benign	Het
Malrd1	A	G	2: 15,614,267	N314S	probably benign	Het
Mfsd1	A	G	3: 67,589,829		probably null	Het
Muc1	C	T	3: 89,230,993	P381S	probably benign	Het
Myh2	A	T	11: 67,185,176	K730*	probably null	Het
Nat3	T	A	8: 67,547,938	N156K	probably benign	Het
Nelfe	T	C	17: 34,854,669		probably benign	Het
Nlrp1a	A	T	11: 71,099,645	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,120,188	Y343C	probably damaging	Het
Pclo	A	T	5: 14,521,171	Q190L	probably damaging	Het
Pde8a	A	G	7: 81,295,691	N183S	probably damaging	Het
Plekha2	C	T	8: 25,052,365	V278I	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plxnb1	T	C	9: 109,111,707	L1550P	probably damaging	Het
Ppox	C	T	1: 171,277,461	V385I	probably damaging	Het
Prdm16	T	C	4: 154,323,259	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,509,911	S470T	probably damaging	Het
Robo2	T	A	16: 73,895,780		probably benign	Het
Siglecg	G	A	7: 43,412,204		probably benign	Het
Slc30a5	T	C	13: 100,813,302	N367S	probably damaging	Het
Tex29	C	T	8: 11,854,288		probably benign	Het
Tmem117	T	A	15: 94,638,139	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,413,505	M122I	probably benign	Het
Tpr	T	A	1: 150,407,400	N287K	probably benign	Het
Unc93b1	A	T	19: 3,943,632	D358V	probably damaging	Het
Vrk2	A	T	11: 26,534,372		probably benign	Het
Wdr24	A	T	17: 25,827,986	Q671L	probably benign	Het
Zfp963	T	C	8: 69,743,377	D142G	probably benign	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
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'- AAAGCTCCTGGTTTTGCTGC -3'
(R):5'- CCCTGGCTTTTGTGACGACTAG -3'

Sequencing Primer
(F):5'- TTGTCACTCCCTAGACGGAAG -3'
(R):5'- ACGACTAGTTTGGTCTTGAGAC -3'

Posted On

2017-02-15