Mutagenetix > Incidental Mutation

Incidental Mutation 'R6668:Zfp608'

527084

Institutional Source

Beutler Lab

Gene Symbol

Zfp608

Ensembl Gene

ENSMUSG00000052713

Gene Name

zinc finger protein 608

Synonyms

4932417D18Rik

MMRRC Submission

044788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R6668 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55021120-55125627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55031091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 950 (S950P)

Ref Sequence

ENSEMBL: ENSMUSP00000068192 (fasta)

Gene Model

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

AlphaFold

Q56A10

Predicted Effect

probably damaging
Transcript: ENSMUST00000064763
AA Change: S950P

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

SMART Domains

Protein: ENSMUSP00000068192
Gene: ENSMUSG00000052713
AA Change: S950P

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: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,486,868 (GRCm39)		probably benign	Het
Adam26b	A	T	8: 43,973,727 (GRCm39)	V425D	possibly damaging	Het
Ahctf1	A	G	1: 179,579,972 (GRCm39)	S2077P	probably benign	Het
Amacr	A	G	15: 10,983,468 (GRCm39)	T93A	probably benign	Het
Arsb	T	A	13: 93,930,728 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,692,677 (GRCm39)	R354Q	probably damaging	Het
Chia1	C	T	3: 106,038,264 (GRCm39)	L387F	probably damaging	Het
Cyp24a1	A	T	2: 170,327,805 (GRCm39)		probably null	Het
Dennd4a	G	A	9: 64,794,247 (GRCm39)	G689S	probably damaging	Het
Elovl4	G	A	9: 83,688,039 (GRCm39)	A18V	probably benign	Het
Fam135a	A	T	1: 24,067,929 (GRCm39)	V80E	probably damaging	Het
Fmo2	T	A	1: 162,704,617 (GRCm39)	T430S	probably benign	Het
Fpgs	T	C	2: 32,577,618 (GRCm39)	I213V	probably benign	Het
Gm10134	A	T	2: 28,396,263 (GRCm39)	R53*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ift172	T	C	5: 31,412,683 (GRCm39)	N1524S	probably benign	Het
Kif1b	G	A	4: 149,297,864 (GRCm39)	S1104F	probably benign	Het
Map3k21	T	C	8: 126,652,852 (GRCm39)	V326A	possibly damaging	Het
Mlst8	A	G	17: 24,696,453 (GRCm39)		probably null	Het
Muc16	A	T	9: 18,551,681 (GRCm39)	S4871T	probably benign	Het
Myo1d	A	G	11: 80,474,701 (GRCm39)		probably benign	Het
Ndufa3	A	G	7: 3,622,465 (GRCm39)	Y41C	probably damaging	Het
Nfkbid	T	A	7: 30,123,866 (GRCm39)	L142Q	probably benign	Het
Or8b38	T	A	9: 37,973,066 (GRCm39)	M150K	possibly damaging	Het
Peg10	T	A	6: 4,754,502 (GRCm39)	D94E	probably benign	Het
Phactr3	A	T	2: 177,974,657 (GRCm39)	I492F	probably damaging	Het
Plxna2	T	C	1: 194,492,396 (GRCm39)	V1751A	possibly damaging	Het
Prss16	T	C	13: 22,190,918 (GRCm39)	E238G	probably null	Het
Rad51ap2	T	C	12: 11,507,647 (GRCm39)	V523A	probably benign	Het
Rbm33	T	A	5: 28,547,498 (GRCm39)	S223T	probably benign	Het
Ryk	T	A	9: 102,746,475 (GRCm39)	F137I	possibly damaging	Het
Sars2	G	A	7: 28,446,429 (GRCm39)	E194K	probably benign	Het
Spata2l	T	C	8: 123,960,167 (GRCm39)	D374G	probably damaging	Het
Tenm2	A	G	11: 35,937,592 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,192,652 (GRCm39)	K1097E	probably damaging	Het
Ulk4	A	T	9: 121,017,408 (GRCm39)	V690E	probably damaging	Het
Usp34	A	G	11: 23,410,659 (GRCm39)	N2703S	probably damaging	Het
Zfp273	C	G	13: 67,973,243 (GRCm39)	L124V	probably damaging	Het
Zfp994	A	T	17: 22,420,081 (GRCm39)	H289Q	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
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'- AGGGTGCATGTAACTCGGAG -3'
(R):5'- CATCAAAGCCGAGGCCGATAAG -3'

Sequencing Primer
(F):5'- TGTAACTCGGAGAATAGTAAGGCTC -3'
(R):5'- CGAGGCCGATAAGGTTTACACATTC -3'

Posted On

2018-07-23