Mutagenetix > Incidental Mutation

Incidental Mutation 'R5624:Zfp608'

441764

Institutional Source

Beutler Lab

Gene Symbol

Zfp608

Ensembl Gene

ENSMUSG00000052713

Gene Name

zinc finger protein 608

Synonyms

4932417D18Rik

MMRRC Submission

043163-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R5624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55021120-55125627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55031344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 865 (N865K)

Ref Sequence

ENSEMBL: ENSMUSP00000068192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064763]

AlphaFold

Q56A10

Predicted Effect

probably damaging
Transcript: ENSMUST00000064763
AA Change: N865K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: N865K

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
low complexity region	150	184	N/A	INTRINSIC
low complexity region	214	234	N/A	INTRINSIC
low complexity region	252	266	N/A	INTRINSIC
low complexity region	309	326	N/A	INTRINSIC
low complexity region	428	445	N/A	INTRINSIC
low complexity region	459	471	N/A	INTRINSIC
ZnF_C2H2	552	577	1.86e0	SMART
low complexity region	624	636	N/A	INTRINSIC
low complexity region	706	718	N/A	INTRINSIC
low complexity region	734	773	N/A	INTRINSIC
low complexity region	807	822	N/A	INTRINSIC
low complexity region	833	846	N/A	INTRINSIC
low complexity region	934	956	N/A	INTRINSIC
coiled coil region	1028	1054	N/A	INTRINSIC
low complexity region	1182	1193	N/A	INTRINSIC
low complexity region	1255	1268	N/A	INTRINSIC
low complexity region	1439	1450	N/A	INTRINSIC
low complexity region	1458	1466	N/A	INTRINSIC
low complexity region	1486	1502	N/A	INTRINSIC

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	T	A	8: 120,341,844 (GRCm39)		probably null	Het
Aoah	A	T	13: 21,179,649 (GRCm39)	N372I	probably damaging	Het
Ash1l	T	A	3: 88,892,916 (GRCm39)	D1598E	probably damaging	Het
Bcas2	T	C	3: 103,080,577 (GRCm39)	C72R	probably benign	Het
Car9	T	A	4: 43,509,146 (GRCm39)	F238Y	probably benign	Het
Ccnd1	T	C	7: 144,491,749 (GRCm39)	S97G	probably benign	Het
Cfap52	C	G	11: 67,818,184 (GRCm39)	C509S	possibly damaging	Het
Clcn4	C	A	7: 7,291,943 (GRCm39)	V623L	probably benign	Het
Dnajc11	T	C	4: 152,063,967 (GRCm39)	V483A	probably benign	Het
E2f8	G	T	7: 48,527,709 (GRCm39)	D144E	probably damaging	Het
Epb41l1	G	A	2: 156,375,691 (GRCm39)		probably benign	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fhit	A	G	14: 10,421,534 (GRCm38)	S85P	probably damaging	Het
Fzd8	G	A	18: 9,213,268 (GRCm39)	G117S	unknown	Het
Gsdmc4	A	G	15: 63,764,503 (GRCm39)	M379T	possibly damaging	Het
Hemk1	T	C	9: 107,208,727 (GRCm39)	R157G	probably benign	Het
Il10	A	G	1: 130,951,940 (GRCm39)	M158V	probably benign	Het
Jmjd1c	G	A	10: 67,069,193 (GRCm39)	M1656I	probably damaging	Het
Kit	A	T	5: 75,770,054 (GRCm39)	K155N	probably benign	Het
Lmtk3	C	A	7: 45,436,286 (GRCm39)	A114E	probably damaging	Het
Lztr1	A	G	16: 17,329,993 (GRCm39)		probably benign	Het
Mras	A	G	9: 99,293,538 (GRCm39)	F34S	probably damaging	Het
Myo1c	A	G	11: 75,553,461 (GRCm39)	T516A	probably damaging	Het
Nme8	A	C	13: 19,862,038 (GRCm39)	V197G	possibly damaging	Het
Or13p5	T	A	4: 118,592,568 (GRCm39)	Y281N	probably damaging	Het
Or8k39	T	C	2: 86,563,149 (GRCm39)	D269G	probably benign	Het
Pcdhb9	A	T	18: 37,534,459 (GRCm39)	Y151F	probably benign	Het
Pcnx2	C	T	8: 126,488,262 (GRCm39)		probably null	Het
Plekhg4	T	C	8: 106,107,382 (GRCm39)	F892S	probably damaging	Het
Prmt3	T	A	7: 49,430,082 (GRCm39)	F62I	probably damaging	Het
Ralgapa1	T	C	12: 55,659,523 (GRCm39)	Y1999C	probably damaging	Het
Rims2	A	T	15: 39,208,809 (GRCm39)	Q204L	possibly damaging	Het
Slc6a16	T	G	7: 44,910,532 (GRCm39)	H352Q	probably benign	Het
Snx9	T	A	17: 5,942,084 (GRCm39)	C70*	probably null	Het
Srprb	A	G	9: 103,074,800 (GRCm39)	I114T	probably damaging	Het
Tas2r119	A	T	15: 32,178,114 (GRCm39)	I227F	probably damaging	Het
Tasor2	A	G	13: 3,634,996 (GRCm39)	S604P	possibly damaging	Het
Tg	A	T	15: 66,709,906 (GRCm39)	Y163F	probably benign	Het
Tm2d2	A	G	8: 25,512,784 (GRCm39)	T211A	probably damaging	Het
Tmem132b	A	G	5: 125,699,710 (GRCm39)	S83G	probably benign	Het
Trav9-4	T	C	14: 53,913,886 (GRCm39)	S47P	probably benign	Het
Vmn2r8	T	A	5: 108,950,325 (GRCm39)	H174L	probably damaging	Het
Xrcc1	A	G	7: 24,259,270 (GRCm39)	D85G	possibly damaging	Het
Zfp106	C	G	2: 120,362,438 (GRCm39)	A34P	probably damaging	Het
Zscan5b	A	G	7: 6,233,518 (GRCm39)	D114G	probably benign	Het

Other mutations in Zfp608

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Zfp608	APN	18	55,121,405 (GRCm39)	missense	probably benign
IGL00920:Zfp608	APN	18	55,022,903 (GRCm39)	missense	probably benign	0.00
IGL01088:Zfp608	APN	18	55,031,159 (GRCm39)	missense	probably benign	0.03
IGL01447:Zfp608	APN	18	55,032,083 (GRCm39)	missense	possibly damaging	0.75
IGL01534:Zfp608	APN	18	55,032,004 (GRCm39)	missense	probably damaging	0.99
IGL01547:Zfp608	APN	18	55,027,521 (GRCm39)	critical splice donor site	probably null
IGL01933:Zfp608	APN	18	55,120,871 (GRCm39)	missense	probably benign
IGL01998:Zfp608	APN	18	55,024,890 (GRCm39)	missense	probably damaging	0.99
IGL02167:Zfp608	APN	18	55,121,296 (GRCm39)	missense	probably damaging	1.00
IGL02266:Zfp608	APN	18	55,030,653 (GRCm39)	missense	probably benign	0.08
IGL02335:Zfp608	APN	18	55,030,509 (GRCm39)	nonsense	probably null
IGL02455:Zfp608	APN	18	55,032,405 (GRCm39)	missense	probably damaging	1.00
IGL02612:Zfp608	APN	18	55,031,273 (GRCm39)	missense	probably damaging	1.00
IGL02900:Zfp608	APN	18	55,079,865 (GRCm39)	missense	probably damaging	1.00
PIT4243001:Zfp608	UTSW	18	55,031,096 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Zfp608	UTSW	18	55,079,783 (GRCm39)	missense	possibly damaging	0.71
R0005:Zfp608	UTSW	18	55,028,592 (GRCm39)	missense	possibly damaging	0.88
R0010:Zfp608	UTSW	18	55,028,286 (GRCm39)	splice site	probably benign
R0010:Zfp608	UTSW	18	55,028,286 (GRCm39)	splice site	probably benign
R0064:Zfp608	UTSW	18	55,031,888 (GRCm39)	missense	probably benign
R0401:Zfp608	UTSW	18	55,032,066 (GRCm39)	missense	probably benign
R0722:Zfp608	UTSW	18	55,033,306 (GRCm39)	missense	probably damaging	1.00
R1351:Zfp608	UTSW	18	55,031,463 (GRCm39)	missense	probably benign	0.00
R1512:Zfp608	UTSW	18	55,079,738 (GRCm39)	missense	probably damaging	1.00
R1554:Zfp608	UTSW	18	55,031,126 (GRCm39)	missense	probably damaging	1.00
R1622:Zfp608	UTSW	18	55,121,366 (GRCm39)	missense	probably benign	0.07
R1669:Zfp608	UTSW	18	55,120,811 (GRCm39)	missense	probably benign	0.09
R1690:Zfp608	UTSW	18	55,120,706 (GRCm39)	missense	possibly damaging	0.62
R1721:Zfp608	UTSW	18	55,032,321 (GRCm39)	missense	probably benign
R1826:Zfp608	UTSW	18	55,031,648 (GRCm39)	missense	probably benign	0.03
R1864:Zfp608	UTSW	18	55,030,983 (GRCm39)	missense	probably benign	0.00
R1952:Zfp608	UTSW	18	55,030,851 (GRCm39)	nonsense	probably null
R2049:Zfp608	UTSW	18	55,028,637 (GRCm39)	missense	probably damaging	1.00
R2051:Zfp608	UTSW	18	55,121,386 (GRCm39)	missense	probably benign
R2168:Zfp608	UTSW	18	55,031,125 (GRCm39)	nonsense	probably null
R2218:Zfp608	UTSW	18	55,120,756 (GRCm39)	missense	probably benign	0.14
R2283:Zfp608	UTSW	18	55,121,446 (GRCm39)	missense	probably damaging	1.00
R2399:Zfp608	UTSW	18	55,030,974 (GRCm39)	missense	probably damaging	1.00
R2520:Zfp608	UTSW	18	55,121,578 (GRCm39)	missense	possibly damaging	0.92
R2961:Zfp608	UTSW	18	55,031,544 (GRCm39)	missense	possibly damaging	0.60
R4074:Zfp608	UTSW	18	55,031,180 (GRCm39)	missense	probably damaging	1.00
R4076:Zfp608	UTSW	18	55,031,180 (GRCm39)	missense	probably damaging	1.00
R4206:Zfp608	UTSW	18	55,121,267 (GRCm39)	missense	probably damaging	1.00
R4756:Zfp608	UTSW	18	55,027,544 (GRCm39)	missense	probably damaging	1.00
R4771:Zfp608	UTSW	18	55,121,372 (GRCm39)	missense	probably benign
R4820:Zfp608	UTSW	18	55,120,756 (GRCm39)	missense	probably benign	0.14
R4825:Zfp608	UTSW	18	55,031,041 (GRCm39)	missense	probably benign	0.01
R4912:Zfp608	UTSW	18	55,079,663 (GRCm39)	missense	probably damaging	1.00
R4975:Zfp608	UTSW	18	55,022,962 (GRCm39)	missense	probably damaging	1.00
R5138:Zfp608	UTSW	18	55,024,871 (GRCm39)	missense	probably damaging	1.00
R5192:Zfp608	UTSW	18	55,031,569 (GRCm39)	missense	probably damaging	1.00
R5557:Zfp608	UTSW	18	55,120,942 (GRCm39)	missense	possibly damaging	0.81
R5818:Zfp608	UTSW	18	55,028,468 (GRCm39)	missense	probably benign	0.02
R5840:Zfp608	UTSW	18	55,031,978 (GRCm39)	missense	probably damaging	1.00
R5992:Zfp608	UTSW	18	55,032,320 (GRCm39)	missense	probably benign	0.15
R6106:Zfp608	UTSW	18	55,120,944 (GRCm39)	missense	possibly damaging	0.54
R6174:Zfp608	UTSW	18	55,121,616 (GRCm39)	start gained	probably benign
R6181:Zfp608	UTSW	18	55,028,700 (GRCm39)	missense	possibly damaging	0.56
R6517:Zfp608	UTSW	18	55,032,150 (GRCm39)	missense	possibly damaging	0.94
R6567:Zfp608	UTSW	18	55,030,628 (GRCm39)	missense	probably damaging	1.00
R6668:Zfp608	UTSW	18	55,031,091 (GRCm39)	missense	probably damaging	1.00
R6920:Zfp608	UTSW	18	55,121,337 (GRCm39)	missense	probably damaging	1.00
R7061:Zfp608	UTSW	18	55,121,069 (GRCm39)	missense	probably benign
R7074:Zfp608	UTSW	18	55,030,454 (GRCm39)	missense	possibly damaging	0.69
R7087:Zfp608	UTSW	18	55,032,469 (GRCm39)	missense	probably damaging	1.00
R7391:Zfp608	UTSW	18	55,030,619 (GRCm39)	missense	possibly damaging	0.49
R7600:Zfp608	UTSW	18	55,121,092 (GRCm39)	missense	probably damaging	1.00
R7723:Zfp608	UTSW	18	55,030,673 (GRCm39)	missense	probably damaging	1.00
R8054:Zfp608	UTSW	18	55,032,618 (GRCm39)	missense	probably benign	0.28
R8236:Zfp608	UTSW	18	55,032,281 (GRCm39)	missense	probably damaging	1.00
R8260:Zfp608	UTSW	18	55,030,821 (GRCm39)	missense	possibly damaging	0.60
R8732:Zfp608	UTSW	18	55,121,072 (GRCm39)	missense	probably benign	0.06
R8781:Zfp608	UTSW	18	55,031,801 (GRCm39)	missense	probably damaging	1.00
R8851:Zfp608	UTSW	18	55,032,194 (GRCm39)	missense	possibly damaging	0.94
R8940:Zfp608	UTSW	18	55,033,301 (GRCm39)	missense	possibly damaging	0.93
R9051:Zfp608	UTSW	18	55,032,266 (GRCm39)	missense	probably damaging	1.00
R9091:Zfp608	UTSW	18	55,032,190 (GRCm39)	missense	probably damaging	1.00
R9092:Zfp608	UTSW	18	55,031,648 (GRCm39)	missense	probably benign	0.03
R9236:Zfp608	UTSW	18	55,032,354 (GRCm39)	missense	probably benign	0.39
R9270:Zfp608	UTSW	18	55,032,190 (GRCm39)	missense	probably damaging	1.00
R9283:Zfp608	UTSW	18	55,030,913 (GRCm39)	missense	possibly damaging	0.50
R9288:Zfp608	UTSW	18	55,033,341 (GRCm39)	missense	probably benign	0.39
R9463:Zfp608	UTSW	18	55,030,274 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATAGGCTGGACTGCTGGTC -3'
(R):5'- CTCTGGTGTCACTCAAAGACAG -3'

Sequencing Primer
(F):5'- TAGCTGCTGCGCTCTCAG -3'
(R):5'- TGTCACTCAAAGACAGAAAGAAAAAG -3'

Posted On

2016-11-08