Mutagenetix > Incidental Mutation

Incidental Mutation 'R7895:Zfp110'

609594

Institutional Source

Beutler Lab

Gene Symbol

Zfp110

Ensembl Gene

ENSMUSG00000058638

Gene Name

zinc finger protein 110

Synonyms

Nrif1, 2900024E01Rik, NRIF

MMRRC Submission

045947-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R7895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12568688-12584504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12571020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 59 (H59Q)

Ref Sequence

ENSEMBL: ENSMUSP00000004614 (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: H59Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: H59Q

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

possibly damaging
Transcript: ENSMUST00000168247
AA Change: H59Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: H59Q

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

0.2068

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,106,295 (GRCm39)	S143T	probably benign	Het
9030624G23Rik	A	T	12: 24,094,724 (GRCm39)	M149K	unknown	Het
Aadacl4fm4	A	T	4: 144,396,913 (GRCm39)	I273K	possibly damaging	Het
Agpat3	T	A	10: 78,119,034 (GRCm39)	I187F	probably benign	Het
Ahcyl1	C	T	3: 107,576,467 (GRCm39)	A332T	probably damaging	Het
Aldh3b3	A	G	19: 4,014,871 (GRCm39)	I123V	possibly damaging	Het
Ap5z1	T	A	5: 142,456,313 (GRCm39)		probably null	Het
Apob	A	T	12: 8,061,933 (GRCm39)	I3472F	probably benign	Het
Arhgef33	C	T	17: 80,680,914 (GRCm39)	P685S	probably benign	Het
Arhgef4	T	C	1: 34,845,478 (GRCm39)	I130T	probably damaging	Het
Arnt2	A	T	7: 83,954,406 (GRCm39)	F263I	probably benign	Het
Bbof1	A	G	12: 84,466,763 (GRCm39)	R177G	probably damaging	Het
Bbs2	C	A	8: 94,807,764 (GRCm39)	G372W	probably damaging	Het
Blmh	T	A	11: 76,836,721 (GRCm39)		probably null	Het
Ccdc30	A	T	4: 119,209,910 (GRCm39)		probably null	Het
Cdca7l	G	T	12: 117,837,467 (GRCm39)	L219F	probably damaging	Het
Cenpu	C	A	8: 47,015,499 (GRCm39)	A138E	probably benign	Het
Cfap65	T	A	1: 74,972,321 (GRCm39)	T13S	probably benign	Het
Clasp2	A	G	9: 113,733,016 (GRCm39)	M951V	probably benign	Het
Clca4a	A	G	3: 144,674,166 (GRCm39)	S190P	probably benign	Het
Clcn4	A	G	7: 7,298,167 (GRCm39)	V74A	probably benign	Het
Cntln	C	T	4: 84,981,561 (GRCm39)	T913M	possibly damaging	Het
Cntnap4	T	A	8: 113,478,829 (GRCm39)	V185E	probably damaging	Het
Col26a1	C	T	5: 136,777,031 (GRCm39)		probably null	Het
Ctcf	A	T	8: 106,390,690 (GRCm39)	Q99L	possibly damaging	Het
Dgke	T	C	11: 88,931,682 (GRCm39)	Q524R	probably damaging	Het
Dhrs7	A	T	12: 72,699,234 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,289,110 (GRCm39)	Y2969H	probably damaging	Het
Dync1h1	T	G	12: 110,582,891 (GRCm39)	I358S	probably damaging	Het
Efcab3	A	C	11: 105,008,150 (GRCm39)	D410A	probably benign	Het
Emilin2	T	C	17: 71,580,908 (GRCm39)	D606G	probably benign	Het
Ermard	C	T	17: 15,283,875 (GRCm39)	T622I	possibly damaging	Het
Exo1	A	G	1: 175,728,562 (GRCm39)	D542G	probably benign	Het
Fgd5	A	T	6: 91,964,262 (GRCm39)	D165V	probably benign	Het
Gdap1	T	C	1: 17,231,368 (GRCm39)	W238R	probably damaging	Het
Gm11096	T	G	17: 81,749,328 (GRCm39)	I7M	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,927,770 (GRCm39)	M175L	probably benign	Het
Gorasp2	G	A	2: 70,514,442 (GRCm39)	S273N	probably benign	Het
Gtf3c1	T	C	7: 125,271,994 (GRCm39)	M642V	possibly damaging	Het
Hmx2	T	A	7: 131,157,600 (GRCm39)	L238Q	probably damaging	Het
Kif13b	A	G	14: 64,973,598 (GRCm39)	D316G	probably damaging	Het
Kmt2c	A	G	5: 25,578,174 (GRCm39)	S701P	possibly damaging	Het
Lama4	T	A	10: 38,964,325 (GRCm39)	N1332K	probably damaging	Het
Lrp2	T	C	2: 69,288,823 (GRCm39)	D3681G	probably damaging	Het
Maml3	G	T	3: 51,605,143 (GRCm39)	P722Q	probably damaging	Het
Mier2	C	A	10: 79,377,719 (GRCm39)		probably benign	Het
Ms4a15	A	T	19: 10,956,694 (GRCm39)		probably null	Het
Msh5	T	C	17: 35,263,355 (GRCm39)	M158V	probably benign	Het
Nova2	A	T	7: 18,676,270 (GRCm39)	K136I		Het
Npm1	A	T	11: 33,106,001 (GRCm39)		probably null	Het
Nr4a3	T	A	4: 48,051,390 (GRCm39)	M48K	probably benign	Het
Nrap	T	G	19: 56,342,584 (GRCm39)	T806P	probably benign	Het
Ntf3	G	A	6: 126,079,203 (GRCm39)	T101M	probably benign	Het
Or2aj4	G	A	16: 19,385,472 (GRCm39)	R54*	probably null	Het
Paxbp1	T	A	16: 90,822,166 (GRCm39)	D648V	probably damaging	Het
Pcdhb18	T	A	18: 37,623,520 (GRCm39)	D283E	probably benign	Het
Phrf1	C	A	7: 140,839,288 (GRCm39)	Q828K	unknown	Het
Pigq	A	T	17: 26,156,299 (GRCm39)	I43N	probably benign	Het
Pou6f2	G	T	13: 18,300,033 (GRCm39)	T542K		Het
Ppfibp2	T	A	7: 107,320,524 (GRCm39)		probably null	Het
Rab1b	A	T	19: 5,150,524 (GRCm39)	M163K	probably benign	Het
Ralgapa1	A	G	12: 55,793,934 (GRCm39)	M567T	probably benign	Het
Reck	T	C	4: 43,890,970 (GRCm39)	V36A	probably benign	Het
Resp18	C	T	1: 75,254,846 (GRCm39)	D36N	probably null	Het
Rint1	A	C	5: 24,005,720 (GRCm39)	H134P	probably damaging	Het
Rps19	A	T	7: 24,587,764 (GRCm39)	K77M	possibly damaging	Het
Sec24b	A	T	3: 129,789,598 (GRCm39)	S808T	probably benign	Het
Sema4c	A	C	1: 36,592,199 (GRCm39)	V216G	probably damaging	Het
Septin10	T	A	10: 59,016,871 (GRCm39)	T218S	probably benign	Het
Septin3	A	T	15: 82,170,020 (GRCm39)	H182L	probably benign	Het
Sipa1	A	G	19: 5,702,690 (GRCm39)	S836P	probably benign	Het
Slc9a5	A	G	8: 106,089,998 (GRCm39)	K652R	probably damaging	Het
Slco5a1	T	A	1: 13,059,927 (GRCm39)	I265F	possibly damaging	Het
Snapc5	T	A	9: 64,086,614 (GRCm39)	M1K	probably null	Het
Snx5	T	A	2: 144,095,740 (GRCm39)	D307V	possibly damaging	Het
Srebf2	A	T	15: 82,061,441 (GRCm39)	M381L	probably benign	Het
Ssh2	G	C	11: 77,345,452 (GRCm39)	E1146Q	probably benign	Het
Suco	A	T	1: 161,672,937 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,812,651 (GRCm39)	L1365Q	probably damaging	Het
Tas1r3	A	G	4: 155,947,005 (GRCm39)	L200P	probably damaging	Het
Thbs2	T	G	17: 14,896,483 (GRCm39)	D802A	probably damaging	Het
Trav3-1	G	A	14: 52,818,550 (GRCm39)	V75M	probably benign	Het
Trim9	G	A	12: 70,301,961 (GRCm39)	P559L	probably benign	Het
Trpc6	G	A	9: 8,655,219 (GRCm39)	G683D	probably damaging	Het
Unc5b	C	A	10: 60,615,509 (GRCm39)	V164L	possibly damaging	Het
Usf3	A	T	16: 44,036,565 (GRCm39)	R348S	possibly damaging	Het
Vmn1r236	T	C	17: 21,507,728 (GRCm39)	V282A	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,130 (GRCm39)	E262G	possibly damaging	Het
Xirp2	A	G	2: 67,339,841 (GRCm39)	E694G	probably damaging	Het
Xpo4	T	A	14: 57,840,048 (GRCm39)	H572L	probably benign	Het
Zfhx4	A	G	3: 5,307,259 (GRCm39)	T162A	probably benign	Het

Other mutations in Zfp110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Zfp110	APN	7	12,583,086 (GRCm39)	missense	probably benign	0.38
IGL01094:Zfp110	APN	7	12,583,723 (GRCm39)	missense	probably damaging	1.00
IGL01576:Zfp110	APN	7	12,583,598 (GRCm39)	missense	probably damaging	1.00
IGL01859:Zfp110	APN	7	12,583,467 (GRCm39)	missense	possibly damaging	0.86
IGL02003:Zfp110	APN	7	12,583,832 (GRCm39)	nonsense	probably null
R0122:Zfp110	UTSW	7	12,582,524 (GRCm39)	missense	possibly damaging	0.51
R0357:Zfp110	UTSW	7	12,570,302 (GRCm39)	missense	probably damaging	0.98
R0383:Zfp110	UTSW	7	12,583,187 (GRCm39)	missense	probably benign	0.00
R0725:Zfp110	UTSW	7	12,570,290 (GRCm39)	missense	possibly damaging	0.52
R0926:Zfp110	UTSW	7	12,583,808 (GRCm39)	nonsense	probably null
R1146:Zfp110	UTSW	7	12,580,721 (GRCm39)	critical splice acceptor site	probably null
R1146:Zfp110	UTSW	7	12,580,721 (GRCm39)	critical splice acceptor site	probably null
R1472:Zfp110	UTSW	7	12,582,468 (GRCm39)	missense	possibly damaging	0.85
R1663:Zfp110	UTSW	7	12,582,569 (GRCm39)	missense	probably benign	0.08
R1975:Zfp110	UTSW	7	12,582,429 (GRCm39)	missense	probably benign	0.00
R2046:Zfp110	UTSW	7	12,583,349 (GRCm39)	missense	probably benign	0.00
R2296:Zfp110	UTSW	7	12,583,467 (GRCm39)	missense	probably damaging	0.97
R2341:Zfp110	UTSW	7	12,583,113 (GRCm39)	missense	probably benign	0.04
R4332:Zfp110	UTSW	7	12,578,498 (GRCm39)	nonsense	probably null
R5892:Zfp110	UTSW	7	12,582,405 (GRCm39)	missense	probably benign	0.00
R5955:Zfp110	UTSW	7	12,582,672 (GRCm39)	missense	possibly damaging	0.85
R6083:Zfp110	UTSW	7	12,578,602 (GRCm39)	missense	possibly damaging	0.95
R6115:Zfp110	UTSW	7	12,583,701 (GRCm39)	missense	probably damaging	0.98
R7187:Zfp110	UTSW	7	12,583,753 (GRCm39)	nonsense	probably null
R7455:Zfp110	UTSW	7	12,581,984 (GRCm39)	missense	probably benign
R7570:Zfp110	UTSW	7	12,583,267 (GRCm39)	missense	possibly damaging	0.94
R7727:Zfp110	UTSW	7	12,582,922 (GRCm39)	missense	possibly damaging	0.91
R8179:Zfp110	UTSW	7	12,578,498 (GRCm39)	nonsense	probably null
R8703:Zfp110	UTSW	7	12,582,888 (GRCm39)	missense	probably benign
R9207:Zfp110	UTSW	7	12,582,485 (GRCm39)	missense	probably benign	0.33
R9794:Zfp110	UTSW	7	12,578,521 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CATAGCTGTGTCTCTAAGCTTTGTG -3'
(R):5'- TGACATGATACCTGGATTCTCATTC -3'

Sequencing Primer
(F):5'- TGTGTCTCTGTTTAAGCAGAAAC -3'
(R):5'- CTGGATTCTCATTCTGCTTAGAAGAC -3'

Posted On

2019-12-20