Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Zfp110'

595558

Institutional Source

Beutler Lab

Gene Symbol

Zfp110

Ensembl Gene

ENSMUSG00000058638

Gene Name

zinc finger protein 110

Synonyms

Nrif1, 2900024E01Rik, NRIF

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R7727 (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 12582922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 523 (D523E)

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: D523E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: D523E

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: D523E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: D523E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	T	16: 85,696,854 (GRCm39)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,746,007 (GRCm39)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,678,346 (GRCm39)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,202,148 (GRCm39)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,790,163 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,744,974 (GRCm39)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,275,162 (GRCm39)	E234*	probably null	Het
Cemip2	C	T	19: 21,807,321 (GRCm39)	L917F	probably benign	Het
Cfap65	T	C	1: 74,965,784 (GRCm39)	T409A	probably benign	Het
Chst5	A	T	8: 112,617,557 (GRCm39)	I21N	probably benign	Het
Cldn20	T	C	17: 3,583,030 (GRCm39)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,506,514 (GRCm39)	M269V	unknown	Het
Dgkh	A	G	14: 78,832,585 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,656,242 (GRCm39)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,731 (GRCm39)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Fsd1	T	G	17: 56,295,150 (GRCm39)	D46E	probably benign	Het
Gabra1	T	C	11: 42,024,418 (GRCm39)	D419G	probably damaging	Het
Golga4	T	A	9: 118,377,770 (GRCm39)	D458E	probably damaging	Het
Grm6	C	A	11: 50,742,369 (GRCm39)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,698,339 (GRCm39)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,412,500 (GRCm39)	V74I	probably benign	Het
Kcng2	C	T	18: 80,339,305 (GRCm39)	V328M	probably benign	Het
Kpna7	T	C	5: 144,941,855 (GRCm39)	E145G	probably benign	Het
Krt81	A	G	15: 101,357,448 (GRCm39)	V428A	probably damaging	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lrpprc	T	C	17: 85,084,375 (GRCm39)	S113G	probably benign	Het
Mboat1	A	C	13: 30,410,289 (GRCm39)	M249L	probably benign	Het
Meltf	T	C	16: 31,702,612 (GRCm39)	V113A	probably damaging	Het
Muc16	T	A	9: 18,571,538 (GRCm39)	H327L	unknown	Het
Myh1	A	G	11: 67,106,748 (GRCm39)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Naga	C	A	15: 82,214,348 (GRCm39)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,291,162 (GRCm39)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,824,793 (GRCm39)	S157*	probably null	Het
Or13c25	A	G	4: 52,911,368 (GRCm39)	V142A	possibly damaging	Het
Or5g23	A	G	2: 85,438,751 (GRCm39)	F168L	possibly damaging	Het
Or8u3-ps	A	T	2: 85,952,840 (GRCm39)	D191V	possibly damaging	Het
Pcdhga5	T	C	18: 37,828,098 (GRCm39)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,547,081 (GRCm39)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,631,506 (GRCm39)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,779,971 (GRCm39)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,669,723 (GRCm39)	F131L	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Rab28	A	G	5: 41,865,313 (GRCm39)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,291,260 (GRCm39)	Q209K	probably benign	Het
Schip1	G	A	3: 67,972,317 (GRCm39)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,184,477 (GRCm39)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,422,193 (GRCm39)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 62,122,651 (GRCm39)	I471F	probably benign	Het
Slamf1	G	A	1: 171,602,467 (GRCm39)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,574,871 (GRCm39)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,263,446 (GRCm39)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,895,822 (GRCm39)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,373,019 (GRCm39)	R228C	probably damaging	Het
Sv2c	A	G	13: 96,113,203 (GRCm39)	I582T	possibly damaging	Het
Tamm41	C	T	6: 114,993,139 (GRCm39)	V205M	probably damaging	Het
Trpm2	T	C	10: 77,761,623 (GRCm39)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,831,613 (GRCm39)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,923,731 (GRCm39)	V147I	possibly damaging	Het
Tut7	A	G	13: 59,947,496 (GRCm39)	F942L	probably benign	Het
Uba2	C	T	7: 33,850,275 (GRCm39)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,440,873 (GRCm39)	N416K	probably benign	Het
Uevld	T	C	7: 46,593,553 (GRCm39)	N233S	probably benign	Het
Upp2	G	A	2: 58,664,160 (GRCm39)	M142I	possibly damaging	Het
Vps52	T	A	17: 34,181,108 (GRCm39)	V450D	probably benign	Het
Wdr31	A	T	4: 62,378,873 (GRCm39)	F118Y	probably damaging	Het
Zfp367	A	T	13: 64,293,457 (GRCm39)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,108,379 (GRCm39)	I235V	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
R7895:Zfp110	UTSW	7	12,571,020 (GRCm39)	missense	possibly damaging	0.86
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'- ACTCCTGTGACACATGGCTC -3'
(R):5'- TCAGAAGTGCTAAGTTCCTCG -3'

Sequencing Primer
(F):5'- AAAACCTGGGACCAGTAG -3'
(R):5'- GGAATTCCTGTTCCCTTGGACG -3'

Posted On

2019-11-12