Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Zfp608'

637386

Institutional Source

Beutler Lab

Gene Symbol

Zfp608

Ensembl Gene

ENSMUSG00000052713

Gene Name

zinc finger protein 608

Synonyms

4932417D18Rik

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55021120-55125627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55032281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 553 (D553V)

Ref Sequence

ENSEMBL: ENSMUSP00000068192 (fasta)

Gene Model

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

AlphaFold

Q56A10

Predicted Effect

probably damaging
Transcript: ENSMUST00000064763
AA Change: D553V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: D553V

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 85,974,115 (GRCm39)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,704,585 (GRCm39)	I51M	probably damaging	Het
Afm	A	T	5: 90,671,747 (GRCm39)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,645,181 (GRCm39)	S753R	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Bicdl1	T	C	5: 115,787,618 (GRCm39)	H527R	probably benign	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,029,938 (GRCm39)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,776,092 (GRCm39)	L263P	probably damaging	Het
Cblb	C	A	16: 51,986,392 (GRCm39)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,160,722 (GRCm39)	P1579Q	probably benign	Het
Cdt1	A	G	8: 123,298,767 (GRCm39)	E468G	probably damaging	Het
Col28a1	A	G	6: 8,097,024 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm39)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,164 (GRCm39)	A287T	probably benign	Het
Dcc	C	T	18: 72,088,089 (GRCm39)	V50I	probably benign	Het
Defb30	A	T	14: 63,287,216 (GRCm39)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,618,905 (GRCm39)	T1291A	possibly damaging	Het
Epyc	A	T	10: 97,517,067 (GRCm39)	N302Y	probably damaging	Het
Espn	G	A	4: 152,233,487 (GRCm39)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,059,729 (GRCm39)		probably null	Het
Fam171b	G	A	2: 83,710,550 (GRCm39)	E741K	probably damaging	Het
Fgfr1	G	T	8: 26,052,288 (GRCm39)	E205*	probably null	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,367,838 (GRCm39)	K224E	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 124,072,285 (GRCm39)	Q17*	probably null	Het
Gm4353	T	C	7: 115,682,618 (GRCm39)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,711,311 (GRCm39)	H631R	probably damaging	Het
Hook1	T	A	4: 95,903,042 (GRCm39)		probably null	Het
Il9	T	A	13: 56,630,058 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,281 (GRCm39)		probably null	Het
Lhcgr	A	T	17: 89,050,014 (GRCm39)	L504*	probably null	Het
Mical3	A	G	6: 120,989,504 (GRCm39)	V272A		Het
Mup10	A	G	4: 60,537,562 (GRCm39)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,358,029 (GRCm39)	P165R	probably damaging	Het
Nanog	A	T	6: 122,690,131 (GRCm39)	I179F	probably benign	Het
Or5w14	T	A	2: 87,542,104 (GRCm39)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,606,552 (GRCm39)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,528,988 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,531,695 (GRCm39)	S141P	probably damaging	Het
Slc2a1	G	C	4: 118,990,454 (GRCm39)	S226T	probably benign	Het
Smyd3	A	C	1: 179,233,205 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,712 (GRCm39)	E1015G	probably benign	Het
Sult1b1	G	T	5: 87,669,383 (GRCm39)	T155N	probably damaging	Het
Tcam1	A	G	11: 106,177,243 (GRCm39)	I412V	probably benign	Het
Tet2	G	A	3: 133,193,547 (GRCm39)	P296S	probably benign	Het
Tmem30c	T	C	16: 57,096,542 (GRCm39)	D193G	probably null	Het
Trem2	G	T	17: 48,658,934 (GRCm39)	W233L	probably benign	Het
Trpm3	C	A	19: 22,964,772 (GRCm39)	D1422E	probably benign	Het
Ttbk1	T	G	17: 46,781,655 (GRCm39)	D366A	probably damaging	Het
Ttyh1	G	A	7: 4,128,547 (GRCm39)	G148D	probably benign	Het
Ubr2	T	C	17: 47,262,835 (GRCm39)	M1259V	probably benign	Het
Zkscan2	A	G	7: 123,079,135 (GRCm39)	S941P	probably benign	Het
Zranb1	T	C	7: 132,551,393 (GRCm39)	Y15H	probably 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
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
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'- CCAGGTGCTTTCGTCTGATC -3'
(R):5'- TGCTGCAGAGGACATAAAAGCC -3'

Sequencing Primer
(F):5'- CGTCTGATCGTATGATGACACAC -3'
(R):5'- GAGGACATAAAAGCCAGCCCTTC -3'

Posted On

2020-07-13