Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Zfp945'

203180

Institutional Source

Beutler Lab

Gene Symbol

Zfp945

Ensembl Gene

ENSMUSG00000059142

Gene Name

zinc finger protein 945

Synonyms

A630033E08Rik, C730040L01Rik

MMRRC Submission

039831-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22846697-22867134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22851762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 388 (T388A)

Ref Sequence

ENSEMBL: ENSMUSP00000086074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088696] [ENSMUST00000150092] [ENSMUST00000160457]

AlphaFold

F6WAU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000088696
AA Change: T388A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086074
Gene: ENSMUSG00000059142
AA Change: T388A

Domain	Start	End	E-Value	Type
KRAB	13	68	9.12e-18	SMART
ZnF_C2H2	210	232	1.45e-2	SMART
ZnF_C2H2	238	260	1.03e-2	SMART
ZnF_C2H2	266	288	1.76e-1	SMART
ZnF_C2H2	322	344	7.37e-4	SMART
ZnF_C2H2	350	372	1.5e-4	SMART
ZnF_C2H2	378	400	5.14e-3	SMART
ZnF_C2H2	406	428	9.73e-4	SMART
ZnF_C2H2	434	456	2.99e-4	SMART
ZnF_C2H2	462	484	4.54e-4	SMART
ZnF_C2H2	490	512	2.4e-3	SMART
ZnF_C2H2	518	540	1.38e-3	SMART
ZnF_C2H2	546	568	1.13e-4	SMART
ZnF_C2H2	574	596	5.59e-4	SMART
ZnF_C2H2	602	624	9.31e1	SMART
ZnF_C2H2	630	652	7.9e-4	SMART
ZnF_C2H2	658	680	3.69e-4	SMART
ZnF_C2H2	686	708	3.16e-3	SMART
ZnF_C2H2	714	736	2.95e-3	SMART
ZnF_C2H2	742	764	1.98e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000095615

Predicted Effect

probably benign
Transcript: ENSMUST00000150092

SMART Domains

Protein: ENSMUSP00000117978
Gene: ENSMUSG00000059142

Domain	Start	End	E-Value	Type
KRAB	34	89	9.12e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160457
AA Change: T409A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124123
Gene: ENSMUSG00000059142
AA Change: T409A

Domain	Start	End	E-Value	Type
KRAB	34	89	9.12e-18	SMART
ZnF_C2H2	231	253	1.45e-2	SMART
ZnF_C2H2	259	281	1.03e-2	SMART
ZnF_C2H2	287	309	1.76e-1	SMART
ZnF_C2H2	343	365	7.37e-4	SMART
ZnF_C2H2	371	393	1.5e-4	SMART
ZnF_C2H2	399	421	5.14e-3	SMART
ZnF_C2H2	427	449	9.73e-4	SMART
ZnF_C2H2	455	477	2.99e-4	SMART
ZnF_C2H2	483	505	4.54e-4	SMART
ZnF_C2H2	511	533	2.4e-3	SMART
ZnF_C2H2	539	561	1.38e-3	SMART
ZnF_C2H2	567	589	1.13e-4	SMART
ZnF_C2H2	595	617	5.59e-4	SMART
ZnF_C2H2	623	645	9.31e1	SMART
ZnF_C2H2	651	673	7.9e-4	SMART
ZnF_C2H2	679	701	3.69e-4	SMART
ZnF_C2H2	707	729	3.16e-3	SMART
ZnF_C2H2	735	757	2.95e-3	SMART
ZnF_C2H2	763	785	1.98e-4	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,396	E362G	probably damaging	Het
Abcc5	T	C	16: 20,338,887	M1307V	probably benign	Het
Adamts9	A	G	6: 92,863,376	V1142A	probably benign	Het
Ano10	T	C	9: 122,253,030	N525S	probably damaging	Het
Bpifa2	T	C	2: 154,011,504		probably null	Het
C7	C	T	15: 5,012,021	V468I	possibly damaging	Het
Carf	A	T	1: 60,141,505	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,546,895	I37L	probably benign	Het
Ccdc182	T	C	11: 88,294,190	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,834,626	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,960,997	Y920F	unknown	Het
Cpsf3	T	C	12: 21,313,790	V627A	probably benign	Het
D7Ertd443e	A	G	7: 134,270,212	M640T	probably damaging	Het
Ddi2	T	C	4: 141,683,972	D543G	probably damaging	Het
Dnah9	T	C	11: 65,955,297	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,680,804	D304G	probably damaging	Het
Epg5	T	C	18: 77,983,490	V1232A	possibly damaging	Het
Ezr	T	C	17: 6,742,372	T358A	possibly damaging	Het
Filip1	A	G	9: 79,815,846	S1164P	probably damaging	Het
Gm14085	C	T	2: 122,521,652	R324C	possibly damaging	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gmip	T	C	8: 69,814,477	V341A	probably benign	Het
Gnb3	A	C	6: 124,835,636	F286V	probably benign	Het
Gpatch2	T	A	1: 187,225,831	S128T	probably benign	Het
Gpr87	T	C	3: 59,179,392	R231G	possibly damaging	Het
Hip1r	G	A	5: 123,998,808	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,803,034	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,698,875	D275V	probably damaging	Het
Il4	G	T	11: 53,618,538	H23Q	possibly damaging	Het
Kit	A	G	5: 75,648,393	Y749C	probably damaging	Het
Klb	A	G	5: 65,349,235	K275R	probably null	Het
Klhl12	G	T	1: 134,489,070	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,480,823	Y345C	probably damaging	Het
Med15	T	C	16: 17,680,735	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,390	Y387N	probably damaging	Het
Myrf	C	A	19: 10,214,191	V928L	probably benign	Het
Nr1d1	T	C	11: 98,771,499	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,283,582	D305V	probably damaging	Het
Obscn	A	C	11: 58,998,321	S7542A	unknown	Het
Olfr1197	T	A	2: 88,729,264	I112F	probably damaging	Het
Pak4	G	A	7: 28,565,190	R96C	probably damaging	Het
Papd5	T	G	8: 88,250,788	V406G	probably benign	Het
Pde6b	A	T	5: 108,427,847	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,345,605	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,654	V873I	possibly damaging	Het
Plb1	A	T	5: 32,293,243	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,963,904	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,416,904	C263R	probably damaging	Het
Psma2	A	T	13: 14,623,605	Y104F	probably benign	Het
Ptger4	T	A	15: 5,242,800	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,404,477	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,694,209	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,914,872	L102P	probably damaging	Het
Ryr2	T	C	13: 11,595,281	S655G	probably benign	Het
Samd4b	A	T	7: 28,407,331		probably null	Het
Sema4a	C	T	3: 88,436,749	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351	D378G	probably benign	Het
Sh3gl3	C	T	7: 82,284,119	T230I	possibly damaging	Het
Slc5a1	A	T	5: 33,146,953	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,936,607	H681N	probably benign	Het
Sugp2	T	C	8: 70,236,710	S10P	possibly damaging	Het
Supt5	A	G	7: 28,317,214		probably null	Het
Syna	A	G	5: 134,560,089	V2A	probably benign	Het
Tcp1	T	A	17: 12,922,202	Y299*	probably null	Het
Tenm3	C	A	8: 48,276,256	V1572L	probably benign	Het
Trp53rka	A	G	2: 165,491,613	S119P	probably damaging	Het
Ubr4	T	A	4: 139,452,563		probably null	Het
Uchl4	T	A	9: 64,235,475	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,428,478	T405K	probably damaging	Het
Xpnpep1	A	G	19: 53,010,133	L228P	probably damaging	Het
Xrcc4	T	G	13: 89,992,579	E170D	probably damaging	Het
Zfp947	G	A	17: 22,146,462	A77V	probably benign	Het
Zkscan5	G	A	5: 145,220,205	G433R	probably damaging	Het

Other mutations in Zfp945

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Zfp945	APN	17	22851957	unclassified	probably benign
IGL01077:Zfp945	APN	17	22852385	missense	probably damaging	0.99
IGL02706:Zfp945	APN	17	22857282	missense	probably damaging	1.00
IGL03408:Zfp945	APN	17	22852537	nonsense	probably null
Small-scale	UTSW	17	22850981	missense	probably damaging	1.00
R0427:Zfp945	UTSW	17	22865252	missense	probably benign	0.10
R0718:Zfp945	UTSW	17	22851030	missense	probably damaging	1.00
R1305:Zfp945	UTSW	17	22852386	missense	probably damaging	0.97
R1837:Zfp945	UTSW	17	22851273	missense	probably damaging	1.00
R2001:Zfp945	UTSW	17	22857249	critical splice donor site	probably null
R4193:Zfp945	UTSW	17	22851170	unclassified	probably benign
R4247:Zfp945	UTSW	17	22850609	missense	probably damaging	0.98
R5026:Zfp945	UTSW	17	22850885	missense	probably damaging	1.00
R5918:Zfp945	UTSW	17	22850981	missense	probably damaging	1.00
R6076:Zfp945	UTSW	17	22851458	missense	probably damaging	1.00
R6664:Zfp945	UTSW	17	22852365	missense	probably damaging	0.99
R6997:Zfp945	UTSW	17	22852569	nonsense	probably null
R7040:Zfp945	UTSW	17	22852290	missense	probably damaging	0.98
R7479:Zfp945	UTSW	17	22851366	missense	possibly damaging	0.93
R7566:Zfp945	UTSW	17	22851753	missense	possibly damaging	0.71
R7948:Zfp945	UTSW	17	22852122	missense	unknown
R8383:Zfp945	UTSW	17	22851824	missense	probably benign	0.05
R9776:Zfp945	UTSW	17	22851608	missense	possibly damaging	0.93
R9790:Zfp945	UTSW	17	22852254	missense	probably benign	0.33
R9791:Zfp945	UTSW	17	22852254	missense	probably benign	0.33
X0063:Zfp945	UTSW	17	22852228	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGAAGGATTTGTCACAGTCAC -3'
(R):5'- GTGAATGCCATTACCGTGC -3'

Sequencing Primer
(F):5'- GTCACAGTCACTGCATTTGTAAGGC -3'
(R):5'- GCCATTACCGTGCTGATATAAG -3'

Posted On

2014-06-23