Mutagenetix > Incidental Mutation

Incidental Mutation 'R1690:Zfp608'

191746

Institutional Source

Beutler Lab

Gene Symbol

Zfp608

Ensembl Gene

ENSMUSG00000052713

Gene Name

zinc finger protein 608

Synonyms

4932417D18Rik

MMRRC Submission

039723-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R1690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55021120-55125627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55120706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 294 (I294F)

Ref Sequence

ENSEMBL: ENSMUSP00000068192 (fasta)

Gene Model

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

AlphaFold

Q56A10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064763
AA Change: I294F

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: I294F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181829

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,610,950 (GRCm39)	S263P	probably damaging	Het
Adcy10	A	G	1: 165,347,494 (GRCm39)	E403G	probably damaging	Het
Adgrg7	A	T	16: 56,615,993 (GRCm39)	V11E	probably damaging	Het
Arhgap35	A	G	7: 16,297,206 (GRCm39)	C620R	probably damaging	Het
Cfap43	A	G	19: 47,739,505 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,871,304 (GRCm39)	S639P	possibly damaging	Het
Csf2rb	T	C	15: 78,232,844 (GRCm39)	V717A	probably benign	Het
D17H6S53E	A	G	17: 35,346,188 (GRCm39)	D33G	possibly damaging	Het
Dpf2	C	T	19: 5,955,490 (GRCm39)	R131Q	probably damaging	Het
Dtx3l	C	T	16: 35,753,638 (GRCm39)	A323T	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgf15	A	G	7: 144,453,665 (GRCm39)	S213G	probably damaging	Het
Fmn1	T	A	2: 113,355,827 (GRCm39)	F756Y	unknown	Het
Hnrnpk	T	A	13: 58,548,168 (GRCm39)	T13S	probably benign	Het
Htr3b	T	A	9: 48,848,394 (GRCm39)	M284L	possibly damaging	Het
Itgal	T	C	7: 126,901,289 (GRCm39)	M225T	possibly damaging	Het
Lipi	A	G	16: 75,338,013 (GRCm39)	Y454H	probably damaging	Het
Lrit3	T	C	3: 129,594,394 (GRCm39)	K61R	probably damaging	Het
Lta4h	A	G	10: 93,320,554 (GRCm39)	D583G	probably benign	Het
Mettl17	T	A	14: 52,128,918 (GRCm39)	V396D	probably damaging	Het
Nlrc4	G	A	17: 74,744,518 (GRCm39)	R788*	probably null	Het
Or8k25	T	A	2: 86,244,298 (GRCm39)	I33F	probably benign	Het
Pepd	G	A	7: 34,730,782 (GRCm39)	G278D	probably damaging	Het
Pramel23	T	C	4: 143,424,693 (GRCm39)	E250G	probably benign	Het
Prkcsh	T	A	9: 21,921,871 (GRCm39)	D245E	probably damaging	Het
Prlr	A	T	15: 10,317,676 (GRCm39)	D84V	probably damaging	Het
Pth2r	C	T	1: 65,411,462 (GRCm39)	T333I	probably benign	Het
Ptk2	T	A	15: 73,134,459 (GRCm39)	I547F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,732 (GRCm39)	S162T	probably damaging	Het
Rnf41	C	A	10: 128,271,329 (GRCm39)	Q80K	possibly damaging	Het
Scn7a	T	G	2: 66,506,287 (GRCm39)	D1534A	probably damaging	Het
Septin12	A	G	16: 4,806,378 (GRCm39)	V261A	probably damaging	Het
Sh2d4a	T	C	8: 68,747,101 (GRCm39)	S110P	probably benign	Het
Soat1	A	T	1: 156,272,144 (GRCm39)	S114T	probably benign	Het
Taar8a	A	G	10: 23,952,813 (GRCm39)	Y139C	probably damaging	Het
Tcf12	A	G	9: 71,777,354 (GRCm39)		probably null	Het
Tmem202	T	A	9: 59,426,391 (GRCm39)	R258S	possibly damaging	Het
Ttc39b	A	T	4: 83,145,414 (GRCm39)	I604N	probably damaging	Het
Vit	A	G	17: 78,932,294 (GRCm39)	D467G	probably damaging	Het
Zc3hc1	A	G	6: 30,390,940 (GRCm39)	V21A	probably damaging	Het
Zfp825	T	A	13: 74,628,781 (GRCm39)	H227L	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
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
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'- GCTCTTACAAGAAGGCAAAAGGCAC -3'
(R):5'- AATTCCCGAGATCAGCAGCACTG -3'

Sequencing Primer
(F):5'- ATCTGCACTCGGGATAGCATC -3'
(R):5'- TAAGGATGCTGCGAGATCCC -3'

Posted On

2014-05-14