Mutagenetix > Incidental Mutation

Incidental Mutation 'R7961:Zfp60'

650112

Institutional Source

Beutler Lab

Gene Symbol

Zfp60

Ensembl Gene

ENSMUSG00000037640

Gene Name

zinc finger protein 60

Synonyms

Mfg-3, Mfg3, 6330516O17Rik

MMRRC Submission

046005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27430834-27451114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27447881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 183 (G183D)

Ref Sequence

ENSEMBL: ENSMUSP00000036627 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042641
AA Change: G183D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036627
Gene: ENSMUSG00000037640
AA Change: G183D

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: G183D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000103973
Gene: ENSMUSG00000037640
AA Change: G183D

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: G183D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000132607
Gene: ENSMUSG00000037640
AA Change: G183D

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,330,903 (GRCm39)	R288W	probably damaging	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,069,121 (GRCm39)	A192T	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Engase	A	G	11: 118,377,686 (GRCm39)	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,609,883 (GRCm39)	H374Y	probably damaging	Het
Icam5	T	C	9: 20,950,051 (GRCm39)	V870A	possibly damaging	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krt71	T	C	15: 101,643,877 (GRCm39)	I454V	probably damaging	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Mia2	T	A	12: 59,206,425 (GRCm39)		probably null	Het
Neurod4	A	T	10: 130,106,356 (GRCm39)	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,510,628 (GRCm39)		probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Nubpl	T	A	12: 52,228,080 (GRCm39)	L168*	probably null	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or4c35	A	G	2: 89,808,131 (GRCm39)	Q3R	probably benign	Het
Or4k48	G	A	2: 111,476,282 (GRCm39)	S20F	probably damaging	Het
Or5d41	C	A	2: 88,055,033 (GRCm39)	M114I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Polm	T	C	11: 5,780,155 (GRCm39)	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Pramel34	T	C	5: 93,784,543 (GRCm39)	D307G	probably damaging	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,430,510 (GRCm39)	T292A	probably damaging	Het
Smad3	G	A	9: 63,557,564 (GRCm39)	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Usp25	A	G	16: 76,856,150 (GRCm39)	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	Het

Other mutations in Zfp60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03353:Zfp60	APN	7	27,447,759 (GRCm39)	nonsense	probably null
PIT4494001:Zfp60	UTSW	7	27,448,126 (GRCm39)	missense	probably damaging	1.00
R1281:Zfp60	UTSW	7	27,437,852 (GRCm39)	missense	probably damaging	1.00
R1643:Zfp60	UTSW	7	27,436,400 (GRCm39)	missense	probably damaging	0.98
R1883:Zfp60	UTSW	7	27,449,435 (GRCm39)	missense	probably benign	0.00
R1930:Zfp60	UTSW	7	27,436,382 (GRCm39)	start codon destroyed	probably null	1.00
R3623:Zfp60	UTSW	7	27,448,753 (GRCm39)	missense	probably benign	0.01
R3624:Zfp60	UTSW	7	27,448,753 (GRCm39)	missense	probably benign	0.01
R3875:Zfp60	UTSW	7	27,449,006 (GRCm39)	missense	probably damaging	1.00
R5296:Zfp60	UTSW	7	27,437,955 (GRCm39)	intron	probably benign
R5491:Zfp60	UTSW	7	27,447,940 (GRCm39)	splice site	probably null
R5724:Zfp60	UTSW	7	27,447,758 (GRCm39)	missense	probably benign
R6134:Zfp60	UTSW	7	27,449,323 (GRCm39)	missense	probably benign	0.01
R6312:Zfp60	UTSW	7	27,448,201 (GRCm39)	missense	probably damaging	0.99
R6477:Zfp60	UTSW	7	27,449,228 (GRCm39)	missense	probably benign	0.00
R6649:Zfp60	UTSW	7	27,448,151 (GRCm39)	missense	probably benign	0.00
R6653:Zfp60	UTSW	7	27,448,151 (GRCm39)	missense	probably benign	0.00
R7041:Zfp60	UTSW	7	27,448,451 (GRCm39)	missense	probably benign	0.05
R7166:Zfp60	UTSW	7	27,448,937 (GRCm39)	missense	possibly damaging	0.82
R7185:Zfp60	UTSW	7	27,437,830 (GRCm39)	missense	probably damaging	1.00
R7334:Zfp60	UTSW	7	27,448,444 (GRCm39)	missense	probably damaging	1.00
R7560:Zfp60	UTSW	7	27,448,696 (GRCm39)	missense	probably damaging	1.00
R7560:Zfp60	UTSW	7	27,448,561 (GRCm39)	missense	probably damaging	0.99
R7561:Zfp60	UTSW	7	27,447,955 (GRCm39)	missense	probably damaging	1.00
R7673:Zfp60	UTSW	7	27,447,740 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTAGTAATGGCCCTGGCTATAG -3'
(R):5'- TGAAGGACTTCCCACACTCC -3'

Sequencing Primer
(F):5'- GCCCTGGCTATAGTGTAATCAAG -3'
(R):5'- ATATTTTTATGGTACTGAAGCAGGG -3'

Posted On

2020-09-15