Mutagenetix > Incidental Mutation

Incidental Mutation 'R4565:Zfp618'

343280

Institutional Source

Beutler Lab

Gene Symbol

Zfp618

Ensembl Gene

ENSMUSG00000028358

Gene Name

zinc finger protein 618

Synonyms

Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik

MMRRC Submission

041790-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R4565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62883810-63057945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63039588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 396 (C396R)

Ref Sequence

ENSEMBL: ENSMUSP00000103038 (fasta)

Gene Model

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

AlphaFold

Q80YY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000064814
AA Change: C303R

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

SMART Domains

Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: C303R

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

probably damaging
Transcript: ENSMUST00000107415
AA Change: C396R

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

SMART Domains

Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: C396R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151324

Meta Mutation Damage Score

0.9669

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,375,806 (GRCm39)		probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg3l1	A	T	8: 124,228,608 (GRCm39)	K725*	probably null	Het
Alkbh1	T	C	12: 87,478,236 (GRCm39)	D225G	probably damaging	Het
Anxa2	A	T	9: 69,397,019 (GRCm39)	K241M	probably damaging	Het
Bptf	G	A	11: 106,963,836 (GRCm39)	T1786M	probably damaging	Het
Cnst	A	G	1: 179,432,114 (GRCm39)	E208G	probably damaging	Het
Dcdc2b	T	C	4: 129,504,778 (GRCm39)	T118A	probably benign	Het
Dhx35	C	A	2: 158,691,455 (GRCm39)	A646E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnhd1	T	A	7: 105,301,163 (GRCm39)	D173E	possibly damaging	Het
Dpy19l1	A	T	9: 24,343,684 (GRCm39)	L487Q	probably null	Het
Gtse1	T	G	15: 85,759,385 (GRCm39)	V631G	probably damaging	Het
Haspin	G	A	11: 73,028,445 (GRCm39)	L215F	probably benign	Het
Herc2	T	C	7: 55,803,586 (GRCm39)	V2207A	possibly damaging	Het
Jph1	A	G	1: 17,074,426 (GRCm39)	Y531H	possibly damaging	Het
Limk2	A	G	11: 3,298,634 (GRCm39)	I261T	probably damaging	Het
Oas3	A	G	5: 120,909,104 (GRCm39)	F281L	probably damaging	Het
Or2a25	A	T	6: 42,888,472 (GRCm39)	Q5L	probably benign	Het
Or7a40	C	A	16: 16,491,557 (GRCm39)	G96V	probably damaging	Het
Pcdhb17	A	G	18: 37,619,523 (GRCm39)	T438A	probably benign	Het
Pfdn5	T	C	15: 102,235,220 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,680 (GRCm39)	C158R	possibly damaging	Het
Rbmxl1	G	A	8: 79,232,639 (GRCm39)	P235S	probably benign	Het
Slc9b1	G	T	3: 135,088,478 (GRCm39)	V280F	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Trpm3	T	C	19: 22,965,233 (GRCm39)	I1576T	probably benign	Het
Trpm6	T	A	19: 18,803,236 (GRCm39)	V893D	probably damaging	Het
Ttc13	A	T	8: 125,408,826 (GRCm39)	N583K	probably damaging	Het

Other mutations in Zfp618

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Zfp618	APN	4	63,051,063 (GRCm39)	missense	probably damaging	1.00
IGL01563:Zfp618	APN	4	62,998,133 (GRCm39)	missense	probably benign	0.38
IGL01726:Zfp618	APN	4	63,050,872 (GRCm39)	missense	probably damaging	1.00
IGL02139:Zfp618	APN	4	63,051,773 (GRCm39)	missense	probably damaging	1.00
IGL02182:Zfp618	APN	4	63,013,798 (GRCm39)	splice site	probably benign
IGL02533:Zfp618	APN	4	63,007,642 (GRCm39)	missense	probably damaging	1.00
IGL03231:Zfp618	APN	4	63,012,716 (GRCm39)	missense	probably damaging	1.00
IGL03257:Zfp618	APN	4	63,050,908 (GRCm39)	missense	probably damaging	1.00
ANU18:Zfp618	UTSW	4	63,051,063 (GRCm39)	missense	probably damaging	1.00
IGL03014:Zfp618	UTSW	4	62,998,325 (GRCm39)	missense	probably damaging	1.00
R0288:Zfp618	UTSW	4	63,051,171 (GRCm39)	missense	possibly damaging	0.57
R0408:Zfp618	UTSW	4	63,004,809 (GRCm39)	missense	probably damaging	0.97
R0685:Zfp618	UTSW	4	63,052,011 (GRCm39)	missense	probably benign	0.21
R1482:Zfp618	UTSW	4	63,033,685 (GRCm39)	missense	possibly damaging	0.64
R1585:Zfp618	UTSW	4	63,051,175 (GRCm39)	missense	probably damaging	1.00
R1649:Zfp618	UTSW	4	63,013,774 (GRCm39)	missense	probably damaging	1.00
R1744:Zfp618	UTSW	4	63,004,871 (GRCm39)	splice site	probably benign
R1793:Zfp618	UTSW	4	63,051,474 (GRCm39)	missense	probably damaging	0.97
R1952:Zfp618	UTSW	4	63,050,555 (GRCm39)	splice site	probably null
R1996:Zfp618	UTSW	4	63,049,452 (GRCm39)	splice site	probably null
R3792:Zfp618	UTSW	4	63,033,728 (GRCm39)	intron	probably benign
R3803:Zfp618	UTSW	4	63,051,256 (GRCm39)	missense	probably damaging	1.00
R3821:Zfp618	UTSW	4	63,051,801 (GRCm39)	missense	probably benign	0.00
R3838:Zfp618	UTSW	4	63,051,801 (GRCm39)	missense	probably benign	0.00
R4009:Zfp618	UTSW	4	63,051,801 (GRCm39)	missense	probably benign	0.00
R4010:Zfp618	UTSW	4	63,051,801 (GRCm39)	missense	probably benign	0.00
R4611:Zfp618	UTSW	4	63,051,216 (GRCm39)	missense	probably damaging	1.00
R5019:Zfp618	UTSW	4	63,021,789 (GRCm39)	missense	probably damaging	1.00
R5154:Zfp618	UTSW	4	63,051,446 (GRCm39)	missense	probably damaging	1.00
R5183:Zfp618	UTSW	4	63,017,519 (GRCm39)	missense	probably benign
R5354:Zfp618	UTSW	4	62,998,265 (GRCm39)	missense	probably damaging	1.00
R5383:Zfp618	UTSW	4	63,013,729 (GRCm39)	missense	probably benign	0.33
R5774:Zfp618	UTSW	4	63,050,799 (GRCm39)	missense	probably damaging	1.00
R5932:Zfp618	UTSW	4	63,036,803 (GRCm39)	nonsense	probably null
R6101:Zfp618	UTSW	4	63,051,478 (GRCm39)	missense	probably benign	0.09
R6105:Zfp618	UTSW	4	63,051,478 (GRCm39)	missense	probably benign	0.09
R6478:Zfp618	UTSW	4	63,050,943 (GRCm39)	missense	probably damaging	1.00
R6598:Zfp618	UTSW	4	63,007,636 (GRCm39)	missense	probably damaging	1.00
R7386:Zfp618	UTSW	4	63,013,622 (GRCm39)	critical splice donor site	probably null
R7666:Zfp618	UTSW	4	63,050,954 (GRCm39)	nonsense	probably null
R7678:Zfp618	UTSW	4	63,004,858 (GRCm39)	missense	probably benign	0.07
R7975:Zfp618	UTSW	4	63,049,352 (GRCm39)	missense	possibly damaging	0.93
R8276:Zfp618	UTSW	4	63,051,193 (GRCm39)	missense	probably damaging	1.00
R8421:Zfp618	UTSW	4	63,051,483 (GRCm39)	missense	probably damaging	1.00
R8988:Zfp618	UTSW	4	63,012,708 (GRCm39)	missense	probably benign	0.09
R9022:Zfp618	UTSW	4	63,012,687 (GRCm39)	missense	probably damaging	1.00
R9150:Zfp618	UTSW	4	63,039,603 (GRCm39)	nonsense	probably null
R9163:Zfp618	UTSW	4	63,051,511 (GRCm39)	missense	probably damaging	1.00
R9364:Zfp618	UTSW	4	63,036,824 (GRCm39)	missense	probably damaging	0.99
R9382:Zfp618	UTSW	4	63,051,258 (GRCm39)	missense	probably damaging	0.97
R9424:Zfp618	UTSW	4	63,051,282 (GRCm39)	missense	probably benign	0.00
R9462:Zfp618	UTSW	4	63,051,510 (GRCm39)	missense	possibly damaging	0.94
R9576:Zfp618	UTSW	4	63,051,282 (GRCm39)	missense	probably benign	0.00
R9587:Zfp618	UTSW	4	63,051,916 (GRCm39)	missense
X0011:Zfp618	UTSW	4	62,998,243 (GRCm39)	missense	probably damaging	0.99
Z1176:Zfp618	UTSW	4	63,051,000 (GRCm39)	missense	probably benign	0.12
Z1176:Zfp618	UTSW	4	63,013,734 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- AGTTAGCAGCCTATATCTGTGTGG -3'
(R):5'- GGGGCTCAGAAGGTAAGTTC -3'

Sequencing Primer
(F):5'- AGCCTATATCTGTGTGGCTTCC -3'
(R):5'- GTCCAGTTATAATGGGATGG -3'

Posted On

2015-09-24