Mutagenetix > Incidental Mutation

Incidental Mutation 'R7600:Zfp608'

587988

Institutional Source

Beutler Lab

Gene Symbol

Zfp608

Ensembl Gene

ENSMUSG00000052713

Gene Name

zinc finger protein 608

Synonyms

4932417D18Rik

MMRRC Submission

045642-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R7600 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55021120-55125627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55121092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 165 (N165S)

Ref Sequence

ENSEMBL: ENSMUSP00000068192 (fasta)

Gene Model

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

AlphaFold

Q56A10

Predicted Effect

probably damaging
Transcript: ENSMUST00000064763
AA Change: N165S

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

SMART Domains

Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: N165S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,854 (GRCm39)	V707I	probably benign	Het
Ahnak	A	T	19: 8,981,938 (GRCm39)	D1074V	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,315 (GRCm39)	M495V	probably benign	Het
Atxn1	T	G	13: 45,710,536 (GRCm39)	K799Q	possibly damaging	Het
Catsperg2	A	T	7: 29,404,283 (GRCm39)	S831T	probably benign	Het
Cldn1	T	C	16: 26,179,669 (GRCm39)	T133A	probably benign	Het
Clec12b	A	G	6: 129,353,226 (GRCm39)	C254R	probably damaging	Het
Cnnm2	A	T	19: 46,750,506 (GRCm39)	T99S	probably benign	Het
Col6a4	T	G	9: 105,944,198 (GRCm39)	D1092A	possibly damaging	Het
Dnajc9	A	G	14: 20,438,793 (GRCm39)	L20P	probably damaging	Het
Dsp	C	A	13: 38,375,691 (GRCm39)	Q1159K	probably damaging	Het
Dst	C	T	1: 34,306,011 (GRCm39)	T4110I	probably damaging	Het
Epb42	A	G	2: 120,852,307 (GRCm39)	L562P	probably damaging	Het
Fras1	T	C	5: 96,832,295 (GRCm39)	Y1543H	probably damaging	Het
Igkv1-117	T	A	6: 68,098,100 (GRCm39)	V9E	possibly damaging	Het
Kbtbd8	T	A	6: 95,099,573 (GRCm39)	Y361N	probably damaging	Het
Lrp1	C	T	10: 127,391,575 (GRCm39)	R2948H	probably benign	Het
Lrp10	G	T	14: 54,706,852 (GRCm39)	R563L	possibly damaging	Het
Mllt3	G	T	4: 87,759,456 (GRCm39)	H197Q	probably benign	Het
Myo18b	G	A	5: 113,025,969 (GRCm39)	P27L	unknown	Het
Nlrp1a	C	A	11: 70,989,740 (GRCm39)	R1110L	probably damaging	Het
Nol10	T	G	12: 17,419,481 (GRCm39)	D257E	probably damaging	Het
Olfm3	T	C	3: 114,890,589 (GRCm39)	V114A	possibly damaging	Het
Or2a57	C	A	6: 43,212,770 (GRCm39)	T76K	probably damaging	Het
Or2t43	T	C	11: 58,458,162 (GRCm39)	N3S	probably benign	Het
Pdzd2	G	T	15: 12,372,820 (GRCm39)	D2438E	probably damaging	Het
Prl7a2	T	G	13: 27,843,264 (GRCm39)	I180L	possibly damaging	Het
Ptch2	A	T	4: 116,953,422 (GRCm39)		probably benign	Het
Snrpn	A	G	7: 59,638,351 (GRCm39)	M1T	probably null	Het
Sntb1	A	T	15: 55,655,584 (GRCm39)	W211R	possibly damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Sytl2	T	C	7: 90,025,352 (GRCm39)	S447P	probably benign	Het
Tas2r129	G	T	6: 132,928,137 (GRCm39)	G25*	probably null	Het
Tcstv7a	A	T	13: 120,290,232 (GRCm39)		probably null	Het
Tle2	T	G	10: 81,422,147 (GRCm39)	Y396*	probably null	Het
Trpm2	T	C	10: 77,773,885 (GRCm39)	K510R	probably benign	Het
Trpm3	A	G	19: 22,903,458 (GRCm39)	T1073A	possibly damaging	Het
Ttc24	A	T	3: 87,979,320 (GRCm39)	M1K	probably null	Het
Tubgcp5	A	G	7: 55,458,261 (GRCm39)	T391A	probably benign	Het
Vmn1r17	T	C	6: 57,337,906 (GRCm39)	E153G	probably benign	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Zcwpw1	A	T	5: 137,798,396 (GRCm39)	K198*	probably null	Het
Zfp142	A	G	1: 74,612,827 (GRCm39)	V641A	probably damaging	Het
Zfp318	C	T	17: 46,695,210 (GRCm39)	A149V	possibly damaging	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
R5624:Zfp608	UTSW	18	55,031,344 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGTCCCAAAGCCATAGAGG -3'
(R):5'- AGGGCTAAAACTTCTAAGGATGC -3'

Sequencing Primer
(F):5'- GTCCCAAAGCCATAGAGGTGACC -3'
(R):5'- GGATGCTAATAAATCTCTGCCTTCTG -3'

Posted On

2019-10-24