Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Zfp689'

515269

Institutional Source

Beutler Lab

Gene Symbol

Zfp689

Ensembl Gene

ENSMUSG00000048921

Gene Name

zinc finger protein 689

Synonyms

4933416E05Rik

MMRRC Submission

044529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127041308-127048330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127043968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 221 (S221P)

Ref Sequence

ENSEMBL: ENSMUSP00000101906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053392] [ENSMUST00000106299]

AlphaFold

Q8BKK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053392
AA Change: S221P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056610
Gene: ENSMUSG00000048921
AA Change: S221P

Domain	Start	End	E-Value	Type
KRAB	29	89	5.03e-29	SMART
low complexity region	121	139	N/A	INTRINSIC
ZnF_C2H2	149	169	1.69e2	SMART
ZnF_C2H2	177	199	4.47e-3	SMART
ZnF_C2H2	205	227	3.95e-4	SMART
ZnF_C2H2	233	255	6.78e-3	SMART
ZnF_C2H2	261	283	1.03e-2	SMART
ZnF_C2H2	289	311	1.28e-3	SMART
ZnF_C2H2	317	339	7.9e-4	SMART
ZnF_C2H2	345	367	3.58e-2	SMART
ZnF_C2H2	373	395	3.89e-3	SMART
ZnF_C2H2	401	423	3.58e-2	SMART
ZnF_C2H2	429	451	8.94e-3	SMART
ZnF_C2H2	457	477	9.81e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106299
AA Change: S221P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101906
Gene: ENSMUSG00000048921
AA Change: S221P

Domain	Start	End	E-Value	Type
KRAB	29	89	5.03e-29	SMART
low complexity region	121	139	N/A	INTRINSIC
ZnF_C2H2	149	169	1.69e2	SMART
ZnF_C2H2	177	199	4.47e-3	SMART
ZnF_C2H2	205	227	6.88e-4	SMART
ZnF_C2H2	233	255	3.89e-3	SMART
ZnF_C2H2	261	283	3.58e-2	SMART
ZnF_C2H2	289	311	8.94e-3	SMART
ZnF_C2H2	317	337	9.81e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147487

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cdyl2	T	A	8: 117,309,923 (GRCm39)	K344N	probably damaging	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lfng	T	A	5: 140,600,151 (GRCm39)		probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or51a5	A	T	7: 102,771,136 (GRCm39)	F281Y	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 155,894,234 (GRCm39)	E274G	possibly damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het

Other mutations in Zfp689

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02694:Zfp689	APN	7	127,047,573 (GRCm39)	missense	possibly damaging	0.69
IGL02814:Zfp689	APN	7	127,044,193 (GRCm39)	missense	possibly damaging	0.69
BB009:Zfp689	UTSW	7	127,043,523 (GRCm39)	missense	probably damaging	1.00
BB019:Zfp689	UTSW	7	127,043,523 (GRCm39)	missense	probably damaging	1.00
R1970:Zfp689	UTSW	7	127,043,959 (GRCm39)	missense	probably damaging	1.00
R2044:Zfp689	UTSW	7	127,043,998 (GRCm39)	missense	probably damaging	1.00
R4502:Zfp689	UTSW	7	127,047,925 (GRCm39)	missense	probably benign	0.03
R5307:Zfp689	UTSW	7	127,047,987 (GRCm39)	missense	possibly damaging	0.50
R5470:Zfp689	UTSW	7	127,043,425 (GRCm39)	missense	probably damaging	0.99
R5692:Zfp689	UTSW	7	127,048,071 (GRCm39)	start gained	probably benign
R6476:Zfp689	UTSW	7	127,043,896 (GRCm39)	missense	probably damaging	1.00
R7538:Zfp689	UTSW	7	127,044,010 (GRCm39)	missense	probably damaging	1.00
R7598:Zfp689	UTSW	7	127,047,840 (GRCm39)	missense	probably benign	0.14
R7932:Zfp689	UTSW	7	127,043,523 (GRCm39)	missense	probably damaging	1.00
R8221:Zfp689	UTSW	7	127,043,758 (GRCm39)	missense	probably damaging	1.00
R8688:Zfp689	UTSW	7	127,044,084 (GRCm39)	missense	probably benign	0.34
R8725:Zfp689	UTSW	7	127,047,940 (GRCm39)	missense	probably damaging	1.00
R9732:Zfp689	UTSW	7	127,044,283 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAGGCAGGTATAGGGCTTCTC -3'
(R):5'- GTGGCTGTACCTTTCCTGAC -3'

Sequencing Primer
(F):5'- CCGTTGGTGGATAGCGAGC -3'
(R):5'- ACCACCTCGCCCTGGAG -3'

Posted On

2018-05-04