Mutagenetix > Incidental Mutation

Incidental Mutation 'R6076:Zfp945'

482764

Institutional Source

Beutler Lab

Gene Symbol

Zfp945

Ensembl Gene

ENSMUSG00000059142

Gene Name

zinc finger protein 945

Synonyms

C730040L01Rik, A630033E08Rik

MMRRC Submission

044237-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6076 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23065671-23086108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23070432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 489 (P489L)

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: P489L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086074
Gene: ENSMUSG00000059142
AA Change: P489L

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

probably damaging
Transcript: ENSMUST00000160457
AA Change: P510L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124123
Gene: ENSMUSG00000059142
AA Change: P510L

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp6v0a1	T	A	11: 100,945,886 (GRCm39)	I723N	probably damaging	Het
C530025M09Rik	T	C	2: 149,672,670 (GRCm39)		probably benign	Het
Cdkn1a	A	G	17: 29,318,332 (GRCm39)	K149E	probably damaging	Het
Cep70	T	A	9: 99,180,558 (GRCm39)	I571N	probably damaging	Het
Cimip4	T	C	15: 78,270,427 (GRCm39)	R114G	possibly damaging	Het
Col9a1	A	T	1: 24,234,457 (GRCm39)		probably benign	Het
Csde1	G	A	3: 102,948,545 (GRCm39)	D132N	possibly damaging	Het
Dlk1	A	G	12: 109,425,895 (GRCm39)	Q256R	probably damaging	Het
Epha6	A	T	16: 60,026,073 (GRCm39)	D456E	probably damaging	Het
Ephx2	A	G	14: 66,330,297 (GRCm39)	V354A	probably damaging	Het
Fpr-rs4	A	G	17: 18,242,317 (GRCm39)	N108S	probably damaging	Het
Gimap1	C	T	6: 48,719,521 (GRCm39)	Q116*	probably null	Het
Gm10784	T	C	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Grid2ip	G	C	5: 143,373,130 (GRCm39)	S736T	probably benign	Het
Hic1	T	C	11: 75,058,154 (GRCm39)	D245G	probably damaging	Het
Hpcal4	C	A	4: 123,084,514 (GRCm39)	Q148K	probably benign	Het
Hspa14	C	T	2: 3,512,109 (GRCm39)	S55N	probably benign	Het
Hspa1b	G	A	17: 35,176,473 (GRCm39)	T504I	probably damaging	Het
Jchain	G	T	5: 88,675,631 (GRCm39)	T3N	probably benign	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Kndc1	A	G	7: 139,481,954 (GRCm39)	T115A	probably damaging	Het
Lrp8	G	T	4: 107,704,656 (GRCm39)	R292L	possibly damaging	Het
Lrrc15	T	A	16: 30,091,806 (GRCm39)	D511V	probably benign	Het
Mapk8	A	G	14: 33,112,250 (GRCm39)	C213R	probably damaging	Het
Mcph1	C	T	8: 18,682,015 (GRCm39)	P384L	probably benign	Het
Mrps7	T	C	11: 115,495,713 (GRCm39)	S84P	probably damaging	Het
Nceh1	A	C	3: 27,333,344 (GRCm39)	I147L	probably benign	Het
Noxa1	A	T	2: 24,975,821 (GRCm39)	I409N	probably damaging	Het
Or1p1c	T	C	11: 74,161,088 (GRCm39)	I291T	probably damaging	Het
Pkd1	G	A	17: 24,800,004 (GRCm39)	G2975R	probably benign	Het
Ppip5k1	T	C	2: 121,167,591 (GRCm39)	D17G	probably null	Het
Prex2	T	A	1: 11,256,174 (GRCm39)	Y1182N	probably benign	Het
Rasa2	T	C	9: 96,427,699 (GRCm39)	N722S	probably benign	Het
Rcc1l	A	G	5: 134,198,167 (GRCm39)	V155A	possibly damaging	Het
Rest	A	G	5: 77,430,821 (GRCm39)	E1080G	unknown	Het
Sacs	A	T	14: 61,441,985 (GRCm39)	K1344*	probably null	Het
Sec16a	C	T	2: 26,313,954 (GRCm39)	E1884K	probably damaging	Het
Secisbp2	C	A	13: 51,833,813 (GRCm39)	T651K	probably damaging	Het
Sema3e	A	G	5: 14,291,100 (GRCm39)	D620G	probably benign	Het
Slc6a17	A	G	3: 107,379,387 (GRCm39)	S553P	possibly damaging	Het
Smpd5	C	A	15: 76,179,092 (GRCm39)	N153K	probably damaging	Het
Ube2d4	T	A	15: 58,718,992 (GRCm39)		noncoding transcript	Het
Vps13c	A	G	9: 67,818,884 (GRCm39)	I1102V	probably damaging	Het
Wdr36	C	A	18: 32,979,998 (GRCm39)	S241Y	probably damaging	Het
Wdr7	T	A	18: 63,872,348 (GRCm39)	D427E	probably damaging	Het

Other mutations in Zfp945

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Zfp945	APN	17	23,070,931 (GRCm39)	unclassified	probably benign
IGL01077:Zfp945	APN	17	23,071,359 (GRCm39)	missense	probably damaging	0.99
IGL02706:Zfp945	APN	17	23,076,256 (GRCm39)	missense	probably damaging	1.00
IGL03408:Zfp945	APN	17	23,071,511 (GRCm39)	nonsense	probably null
Small-scale	UTSW	17	23,069,955 (GRCm39)	missense	probably damaging	1.00
R0427:Zfp945	UTSW	17	23,084,226 (GRCm39)	missense	probably benign	0.10
R0718:Zfp945	UTSW	17	23,070,004 (GRCm39)	missense	probably damaging	1.00
R1305:Zfp945	UTSW	17	23,071,360 (GRCm39)	missense	probably damaging	0.97
R1801:Zfp945	UTSW	17	23,070,736 (GRCm39)	missense	probably damaging	0.97
R1837:Zfp945	UTSW	17	23,070,247 (GRCm39)	missense	probably damaging	1.00
R2001:Zfp945	UTSW	17	23,076,223 (GRCm39)	critical splice donor site	probably null
R4193:Zfp945	UTSW	17	23,070,144 (GRCm39)	unclassified	probably benign
R4247:Zfp945	UTSW	17	23,069,583 (GRCm39)	missense	probably damaging	0.98
R5026:Zfp945	UTSW	17	23,069,859 (GRCm39)	missense	probably damaging	1.00
R5918:Zfp945	UTSW	17	23,069,955 (GRCm39)	missense	probably damaging	1.00
R6664:Zfp945	UTSW	17	23,071,339 (GRCm39)	missense	probably damaging	0.99
R6997:Zfp945	UTSW	17	23,071,543 (GRCm39)	nonsense	probably null
R7040:Zfp945	UTSW	17	23,071,264 (GRCm39)	missense	probably damaging	0.98
R7479:Zfp945	UTSW	17	23,070,340 (GRCm39)	missense	possibly damaging	0.93
R7566:Zfp945	UTSW	17	23,070,727 (GRCm39)	missense	possibly damaging	0.71
R7948:Zfp945	UTSW	17	23,071,096 (GRCm39)	missense	unknown
R8383:Zfp945	UTSW	17	23,070,798 (GRCm39)	missense	probably benign	0.05
R9776:Zfp945	UTSW	17	23,070,582 (GRCm39)	missense	possibly damaging	0.93
R9790:Zfp945	UTSW	17	23,071,228 (GRCm39)	missense	probably benign	0.33
R9791:Zfp945	UTSW	17	23,071,228 (GRCm39)	missense	probably benign	0.33
X0063:Zfp945	UTSW	17	23,071,202 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCCAGTCTGGATAAAGGAATTT -3'
(R):5'- GGTGGCTCATATCTTAGAAGTCA -3'

Sequencing Primer
(F):5'- CCGGTTAAAGGATTTGTCACATCCAC -3'
(R):5'- GGCTCATATCTTAGAAGTCATCAGAG -3'

Posted On

2017-07-14