Mutagenetix > Incidental Mutations

Incidental Mutation 'R6477:Zfp60'

516838

Institutional Source

Beutler Lab

Gene Symbol

Zfp60

Ensembl Gene

ENSMUSG00000037640

Gene Name

zinc finger protein 60

Synonyms

6330516O17Rik, Mfg-3, Mfg3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27731389-27753702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27749803 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 632 (R632H)

Ref Sequence

ENSEMBL: ENSMUSP00000132607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042641] [ENSMUST00000108336] [ENSMUST00000130997] [ENSMUST00000136373] [ENSMUST00000167955]

Predicted Effect

probably benign
Transcript: ENSMUST00000042641
AA Change: R632H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036627
Gene: ENSMUSG00000037640
AA Change: R632H

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	173	195	2.67e-1	SMART
ZnF_C2H2	201	223	2.09e-3	SMART
ZnF_C2H2	229	251	1.18e-2	SMART
ZnF_C2H2	257	279	2.24e-3	SMART
ZnF_C2H2	285	307	2.65e-5	SMART
ZnF_C2H2	313	335	5.5e-3	SMART
ZnF_C2H2	341	363	3.89e-3	SMART
ZnF_C2H2	369	391	6.32e-3	SMART
ZnF_C2H2	397	419	5.14e-3	SMART
ZnF_C2H2	425	447	7.9e-4	SMART
ZnF_C2H2	453	475	1.67e-2	SMART
ZnF_C2H2	481	503	4.4e-2	SMART
ZnF_C2H2	509	531	4.24e-4	SMART
ZnF_C2H2	537	559	5.21e-4	SMART
ZnF_C2H2	565	587	5.14e-3	SMART
ZnF_C2H2	593	615	3.89e-3	SMART
ZnF_C2H2	621	643	1.95e-3	SMART
ZnF_C2H2	649	671	6.67e-2	SMART
ZnF_C2H2	677	699	8.34e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108336
AA Change: R632H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103973
Gene: ENSMUSG00000037640
AA Change: R632H

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	173	195	2.67e-1	SMART
ZnF_C2H2	201	223	2.09e-3	SMART
ZnF_C2H2	229	251	1.18e-2	SMART
ZnF_C2H2	257	279	2.24e-3	SMART
ZnF_C2H2	285	307	2.65e-5	SMART
ZnF_C2H2	313	335	5.5e-3	SMART
ZnF_C2H2	341	363	3.89e-3	SMART
ZnF_C2H2	369	391	6.32e-3	SMART
ZnF_C2H2	397	419	5.14e-3	SMART
ZnF_C2H2	425	447	7.9e-4	SMART
ZnF_C2H2	453	475	1.67e-2	SMART
ZnF_C2H2	481	503	4.4e-2	SMART
ZnF_C2H2	509	531	4.24e-4	SMART
ZnF_C2H2	537	559	5.21e-4	SMART
ZnF_C2H2	565	587	5.14e-3	SMART
ZnF_C2H2	593	615	3.89e-3	SMART
ZnF_C2H2	621	643	1.95e-3	SMART
ZnF_C2H2	649	671	6.67e-2	SMART
ZnF_C2H2	677	699	8.34e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130997

SMART Domains

Protein: ENSMUSP00000118469
Gene: ENSMUSG00000037640

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136373

SMART Domains

Protein: ENSMUSP00000117049
Gene: ENSMUSG00000037640

Domain	Start	End	E-Value	Type
KRAB	14	55	3.2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167955
AA Change: R632H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132607
Gene: ENSMUSG00000037640
AA Change: R632H

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	173	195	2.67e-1	SMART
ZnF_C2H2	201	223	2.09e-3	SMART
ZnF_C2H2	229	251	1.18e-2	SMART
ZnF_C2H2	257	279	2.24e-3	SMART
ZnF_C2H2	285	307	2.65e-5	SMART
ZnF_C2H2	313	335	5.5e-3	SMART
ZnF_C2H2	341	363	3.89e-3	SMART
ZnF_C2H2	369	391	6.32e-3	SMART
ZnF_C2H2	397	419	5.14e-3	SMART
ZnF_C2H2	425	447	7.9e-4	SMART
ZnF_C2H2	453	475	1.67e-2	SMART
ZnF_C2H2	481	503	4.4e-2	SMART
ZnF_C2H2	509	531	4.24e-4	SMART
ZnF_C2H2	537	559	5.21e-4	SMART
ZnF_C2H2	565	587	5.14e-3	SMART
ZnF_C2H2	593	615	3.89e-3	SMART
ZnF_C2H2	621	643	1.95e-3	SMART
ZnF_C2H2	649	671	6.67e-2	SMART
ZnF_C2H2	677	699	8.34e-3	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,257,630		probably null	Het
4933415F23Rik	A	T	1: 23,101,780	L151Q	probably benign	Het
Aatk	T	C	11: 120,018,870	D23G	probably benign	Het
Abca14	T	C	7: 120,325,102	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,502,212	V481M	probably benign	Het
Ankfy1	G	A	11: 72,730,482	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,794,022	R20*	probably null	Het
Cops7a	A	T	6: 124,960,176	V184E	probably damaging	Het
Cpa3	T	C	3: 20,239,575	E83G	possibly damaging	Het
Crls1	C	T	2: 132,861,233	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,481,817	S153R	probably damaging	Het
Ddx54	T	A	5: 120,621,778	I410N	probably damaging	Het
Dido1	T	A	2: 180,660,481	T1877S	probably benign	Het
Dip2c	A	G	13: 9,623,760	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,677,886	V681I	probably benign	Het
Dst	A	G	1: 34,208,728		probably null	Het
Eya2	A	G	2: 165,763,761	T362A	probably benign	Het
Hgs	G	A	11: 120,469,655	V60M	probably damaging	Het
Inpp4b	A	G	8: 81,844,714		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kdr	C	A	5: 75,968,841	A129S	probably benign	Het
Lhcgr	A	T	17: 88,742,373	M575K	probably damaging	Het
Lsamp	G	T	16: 42,168,165		probably benign	Het
Mcm5	T	C	8: 75,112,602	V161A	probably benign	Het
Mmp14	A	T	14: 54,437,658	H249L	probably damaging	Het
Mroh5	A	G	15: 73,790,755	S405P	probably damaging	Het
Mroh9	C	A	1: 163,076,304	L46F	probably damaging	Het
Mtrr	A	T	13: 68,570,073	H357Q	probably damaging	Het
Myrf	G	A	19: 10,228,785	P89L	probably benign	Het
Mzb1	C	T	18: 35,648,258		probably null	Het
Naip6	A	G	13: 100,316,008	S182P	probably damaging	Het
Nmur2	A	T	11: 56,029,591	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,011,145	S35Y	probably benign	Het
Olfr1154	A	G	2: 87,902,990	S229P	probably damaging	Het
Olfr572	T	A	7: 102,928,378	V250E	probably damaging	Het
Olfr657	T	C	7: 104,635,679	S2P	probably benign	Het
Osbpl1a	T	C	18: 12,756,261	I541V	probably benign	Het
Parp4	A	G	14: 56,647,237	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,980,659	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,536,627	T930A	probably benign	Het
Pomt1	G	A	2: 32,248,716		probably null	Het
Pramel6	A	G	2: 87,510,602	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,044,261	T83A	probably damaging	Het
Rbm27	T	A	18: 42,333,318	V915E	probably damaging	Het
Rnf114	T	A	2: 167,503,488	D10E	probably benign	Het
Sbk1	A	G	7: 126,291,178	E121G	probably damaging	Het
Senp6	A	T	9: 80,093,625	R39*	probably null	Het
Sergef	A	T	7: 46,633,826	I94N	probably benign	Het
Slc30a9	C	T	5: 67,328,524	R183W	probably benign	Het
Smurf1	C	T	5: 144,889,792	R414H	possibly damaging	Het
Sptb	A	T	12: 76,606,392	W1566R	probably damaging	Het
Tenm2	T	C	11: 36,010,507		probably null	Het
Tnni1	T	C	1: 135,805,566	V42A	probably benign	Het
Tnxb	A	G	17: 34,719,539	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,434,574	F46L	probably benign	Het
Ubqln5	G	A	7: 104,128,258	S453F	probably damaging	Het
Ubr3	A	T	2: 69,979,429	R1248*	probably null	Het
Utp20	A	G	10: 88,768,918	V1705A	probably benign	Het
Zfp638	A	G	6: 83,965,578	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,480,910	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,704,167	K1355T	probably benign	Het

Other mutations in Zfp60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03353:Zfp60	APN	7	27748334	nonsense	probably null
PIT4494001:Zfp60	UTSW	7	27748701	missense	probably damaging	1.00
R1281:Zfp60	UTSW	7	27738427	missense	probably damaging	1.00
R1643:Zfp60	UTSW	7	27736975	missense	probably damaging	0.98
R1883:Zfp60	UTSW	7	27750010	missense	probably benign	0.00
R1930:Zfp60	UTSW	7	27736957	start codon destroyed	probably null	1.00
R3623:Zfp60	UTSW	7	27749328	missense	probably benign	0.01
R3624:Zfp60	UTSW	7	27749328	missense	probably benign	0.01
R3875:Zfp60	UTSW	7	27749581	missense	probably damaging	1.00
R5296:Zfp60	UTSW	7	27738530	intron	probably benign
R5491:Zfp60	UTSW	7	27748515	splice site	probably null
R5724:Zfp60	UTSW	7	27748333	missense	probably benign
R6134:Zfp60	UTSW	7	27749898	missense	probably benign	0.01
R6312:Zfp60	UTSW	7	27748776	missense	probably damaging	0.99
R6649:Zfp60	UTSW	7	27748726	missense	probably benign	0.00
R6653:Zfp60	UTSW	7	27748726	missense	probably benign	0.00
R7041:Zfp60	UTSW	7	27749026	missense	probably benign	0.05
R7166:Zfp60	UTSW	7	27749512	missense	possibly damaging	0.82
R7185:Zfp60	UTSW	7	27738405	missense	probably damaging	1.00
R7334:Zfp60	UTSW	7	27749019	missense	probably damaging	1.00
R7560:Zfp60	UTSW	7	27749136	missense	probably damaging	0.99
R7560:Zfp60	UTSW	7	27749271	missense	probably damaging	1.00
R7561:Zfp60	UTSW	7	27748530	missense	probably damaging	1.00
R7673:Zfp60	UTSW	7	27748315	missense	probably benign	0.00
R7961:Zfp60	UTSW	7	27748456	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGTTCTGGCTCAGCTCAC -3'
(R):5'- CCACCTTTGATTTTCAACTGAAGGTC -3'

Sequencing Primer
(F):5'- GCTCAGCTCACACGGCAC -3'
(R):5'- ACTCTGATGTACTTTAAGGTCTCGAC -3'

Posted On

2018-05-21