Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Zfp110'

29879

Institutional Source

Beutler Lab

Gene Symbol

Zfp110

Ensembl Gene

ENSMUSG00000058638

Gene Name

zinc finger protein 110

Synonyms

Nrif1, NRIF, 2900024E01Rik

MMRRC Submission

038563-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12834761-12850577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12836375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 43 (Y43C)

Ref Sequence

ENSEMBL: ENSMUSP00000132060 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004614
AA Change: Y43C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: Y43C

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

noncoding transcript
Transcript: ENSMUST00000148041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154011

Predicted Effect

probably damaging
Transcript: ENSMUST00000168247
AA Change: Y43C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: Y43C

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

0.7088

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,209	S169P	possibly damaging	Het
4930402H24Rik	A	T	2: 130,712,946		probably benign	Het
4931428F04Rik	A	T	8: 105,285,067	V222E	probably damaging	Het
4932431P20Rik	A	T	7: 29,535,582		noncoding transcript	Het
9230019H11Rik	A	T	10: 3,120,307		noncoding transcript	Het
9230019H11Rik	A	G	10: 3,125,788		noncoding transcript	Het
Abcf2	T	C	5: 24,573,465	K232E	probably benign	Het
AI837181	C	T	19: 5,426,703	T298I	possibly damaging	Het
Alox12	T	C	11: 70,242,536	Y614C	probably damaging	Het
Amn	A	T	12: 111,274,141		probably null	Het
Ankrd33b	A	G	15: 31,305,126	S121P	probably benign	Het
Aox1	A	G	1: 58,092,516	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314	R736L	probably benign	Het
Atp2a3	G	A	11: 72,970,931		probably null	Het
Cables2	T	C	2: 180,262,232		probably benign	Het
Catsperg2	A	T	7: 29,714,901	Y360N	possibly damaging	Het
Ccdc129	T	A	6: 55,968,034	M580K	probably benign	Het
Cd163l1	T	G	7: 140,227,895	C660G	probably damaging	Het
Cdh4	T	C	2: 179,847,340	S282P	probably damaging	Het
Col5a3	C	T	9: 20,807,768		probably benign	Het
Ctso	A	T	3: 81,951,543		probably benign	Het
Cyp4f13	A	T	17: 32,932,651	Y125*	probably null	Het
Dapk1	T	A	13: 60,729,558	L537*	probably null	Het
Ddit4l	G	A	3: 137,626,185	R104Q	probably benign	Het
Def6	C	T	17: 28,223,935	H322Y	probably damaging	Het
Dnah6	T	C	6: 73,188,359	N588D	probably benign	Het
Dzip1	T	A	14: 118,909,538	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,609,204	H319R	probably damaging	Het
Erc2	A	G	14: 27,777,022	E285G	probably damaging	Het
Fam109b	C	T	15: 82,343,316	A12V	probably damaging	Het
Fat4	G	A	3: 38,891,227	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,840	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,133	A126T	probably damaging	Het
Gbp5	G	A	3: 142,505,411	D301N	probably benign	Het
Gm10360	T	C	6: 70,424,313		noncoding transcript	Het
Gm6471	T	A	7: 142,833,867		noncoding transcript	Het
Gm8674	T	A	13: 49,902,113		noncoding transcript	Het
Hist2h2bb	A	C	3: 96,269,788	K13Q	probably null	Het
Ift172	A	G	5: 31,257,900	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Insrr	A	C	3: 87,808,646		probably null	Het
Krt83	C	T	15: 101,487,019	V399M	probably benign	Het
Macf1	T	C	4: 123,457,983	N3708S	probably damaging	Het
Mogat1	T	C	1: 78,512,040	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,981,826	M9K	probably benign	Het
Mtus1	A	T	8: 41,083,526	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,710,902	M306K	probably benign	Het
Noxa1	G	T	2: 25,085,850	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,346,458	V884A	possibly damaging	Het
Olfr1335	A	C	4: 118,809,417	L149R	probably damaging	Het
Olfr1392	A	G	11: 49,293,786	N155S	probably damaging	Het
Olfr424	T	A	1: 174,137,299	L185*	probably null	Het
Olfr429	T	C	1: 174,089,109	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,758,623		probably benign	Het
Paxx	T	A	2: 25,460,067	E145D	probably damaging	Het
Pde4d	T	C	13: 109,951,268	V560A	possibly damaging	Het
Plxnd1	C	T	6: 115,969,460	V847M	probably benign	Het
Polk	T	A	13: 96,504,597	M151L	probably damaging	Het
Ptprq	C	T	10: 107,686,199		probably benign	Het
Pum2	A	G	12: 8,721,785	Q371R	possibly damaging	Het
Reln	G	A	5: 21,950,822	A2224V	probably damaging	Het
Shroom1	A	G	11: 53,465,208	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,267,332		probably null	Het
Spg11	A	C	2: 122,066,232		probably benign	Het
Tcaf3	T	A	6: 42,589,827	Y776F	probably damaging	Het
Thada	A	G	17: 84,230,936	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,590,304	P410S	probably damaging	Het
Ube2u	G	T	4: 100,481,654	E39*	probably null	Het
Vmn2r2	C	T	3: 64,133,899		probably null	Het
Vmn2r24	TCC	TC	6: 123,815,410		probably null	Het
Zfp605	A	G	5: 110,124,379	T55A	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
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
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'- AGTGTCAGACCGATTTGCTCAAGG -3'
(R):5'- GAGCCCAAGCACTTACAGTTCAGG -3'

Sequencing Primer
(F):5'- CCGATTTGCTCAAGGATTCAGAC -3'
(R):5'- CGCACATCCAGAATTGGGG -3'

Posted On

2013-04-24