Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Zfp618'

174077

Institutional Source

Beutler Lab

Gene Symbol

Zfp618

Ensembl Gene

ENSMUSG00000028358

Gene Name

zinc finger protein 618

Synonyms

D430033D05Rik, 2810040O04Rik, 2810031P15Rik, Nedd10

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62965573-63139708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63095537 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 213 (F213S)

Ref Sequence

ENSEMBL: ENSMUSP00000069275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030043] [ENSMUST00000064814] [ENSMUST00000107415]

Predicted Effect

probably benign
Transcript: ENSMUST00000030043
AA Change: F189S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030043
Gene: ENSMUSG00000028358
AA Change: F189S

Domain	Start	End	E-Value	Type
ZnF_C2H2	90	112	5.06e-2	SMART
ZnF_C2H2	131	153	8.81e-2	SMART
ZnF_C2H2	199	221	2.91e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000064814
AA Change: F213S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: F213S

Domain	Start	End	E-Value	Type
ZnF_C2H2	114	136	5.06e-2	SMART
ZnF_C2H2	155	177	8.81e-2	SMART
ZnF_C2H2	243	265	2.91e-2	SMART
low complexity region	288	295	N/A	INTRINSIC
ZnF_C2H2	298	320	2.53e-2	SMART
PDB:2BW3\|A	377	690	5e-8	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107415
AA Change: F245S

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: F245S

Domain	Start	End	E-Value	Type
ZnF_C2H2	146	168	5.06e-2	SMART
ZnF_C2H2	187	209	8.81e-2	SMART
ZnF_C2H2	255	277	2.91e-2	SMART
low complexity region	381	388	N/A	INTRINSIC
ZnF_C2H2	391	413	2.53e-2	SMART
PDB:2BW3\|A	479	783	9e-8	PDB

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	probably benign	Het

Other mutations in Zfp618

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Zfp618	APN	4	63132826	missense	probably damaging	1.00
IGL01563:Zfp618	APN	4	63079896	missense	probably benign	0.38
IGL01726:Zfp618	APN	4	63132635	missense	probably damaging	1.00
IGL02139:Zfp618	APN	4	63133536	missense	probably damaging	1.00
IGL02182:Zfp618	APN	4	63095561	splice site	probably benign
IGL02533:Zfp618	APN	4	63089405	missense	probably damaging	1.00
IGL03231:Zfp618	APN	4	63094479	missense	probably damaging	1.00
IGL03257:Zfp618	APN	4	63132671	missense	probably damaging	1.00
ANU18:Zfp618	UTSW	4	63132826	missense	probably damaging	1.00
IGL03014:Zfp618	UTSW	4	63080088	missense	probably damaging	1.00
R0288:Zfp618	UTSW	4	63132934	missense	possibly damaging	0.57
R0408:Zfp618	UTSW	4	63086572	missense	probably damaging	0.97
R0685:Zfp618	UTSW	4	63133774	missense	probably benign	0.21
R1482:Zfp618	UTSW	4	63115448	missense	possibly damaging	0.64
R1585:Zfp618	UTSW	4	63132938	missense	probably damaging	1.00
R1744:Zfp618	UTSW	4	63086634	splice site	probably benign
R1793:Zfp618	UTSW	4	63133237	missense	probably damaging	0.97
R1952:Zfp618	UTSW	4	63132318	splice site	probably null
R1996:Zfp618	UTSW	4	63131215	splice site	probably null
R3792:Zfp618	UTSW	4	63115491	intron	probably benign
R3803:Zfp618	UTSW	4	63133019	missense	probably damaging	1.00
R3821:Zfp618	UTSW	4	63133564	missense	probably benign	0.00
R3838:Zfp618	UTSW	4	63133564	missense	probably benign	0.00
R4009:Zfp618	UTSW	4	63133564	missense	probably benign	0.00
R4010:Zfp618	UTSW	4	63133564	missense	probably benign	0.00
R4565:Zfp618	UTSW	4	63121351	missense	probably damaging	1.00
R4611:Zfp618	UTSW	4	63132979	missense	probably damaging	1.00
R5019:Zfp618	UTSW	4	63103552	missense	probably damaging	1.00
R5154:Zfp618	UTSW	4	63133209	missense	probably damaging	1.00
R5183:Zfp618	UTSW	4	63099282	missense	probably benign
R5354:Zfp618	UTSW	4	63080028	missense	probably damaging	1.00
R5383:Zfp618	UTSW	4	63095492	missense	probably benign	0.33
R5774:Zfp618	UTSW	4	63132562	missense	probably damaging	1.00
R5932:Zfp618	UTSW	4	63118566	nonsense	probably null
R6101:Zfp618	UTSW	4	63133241	missense	probably benign	0.09
R6105:Zfp618	UTSW	4	63133241	missense	probably benign	0.09
R6478:Zfp618	UTSW	4	63132706	missense	probably damaging	1.00
R6598:Zfp618	UTSW	4	63089399	missense	probably damaging	1.00
R7386:Zfp618	UTSW	4	63095385	critical splice donor site	probably null
R7666:Zfp618	UTSW	4	63132717	nonsense	probably null
R7678:Zfp618	UTSW	4	63086621	missense	probably benign	0.07
R7975:Zfp618	UTSW	4	63131115	missense	possibly damaging	0.93
R8276:Zfp618	UTSW	4	63132956	missense	probably damaging	1.00
R8421:Zfp618	UTSW	4	63133246	missense	probably damaging	1.00
X0011:Zfp618	UTSW	4	63080006	missense	probably damaging	0.99
Z1176:Zfp618	UTSW	4	63095497	missense	probably benign	0.29
Z1176:Zfp618	UTSW	4	63132763	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GCTACCCCATGAATGTAGGAAAGGC -3'
(R):5'- GGCTACTTTCACTACCGTGACCTTG -3'

Sequencing Primer
(F):5'- GGACTCACAGGACTCTTGTTTG -3'
(R):5'- GTGACCTTGACCACACCCTG -3'

Posted On

2014-04-24