Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Zfp618'

274405

Institutional Source

Beutler Lab

Gene Symbol

Zfp618

Ensembl Gene

ENSMUSG00000028358

Gene Name

zinc finger protein 618

Synonyms

Nedd10, 2810040O04Rik, D430033D05Rik, 2810031P15Rik

MMRRC Submission

040878-MU

Accession Numbers

Essential gene?

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

Stock #

R3803 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

62883810-63057945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63051256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 679 (E679G)

Ref Sequence

ENSEMBL: ENSMUSP00000103038 (fasta)

Gene Model

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

AlphaFold

Q80YY7

Predicted Effect

probably benign
Transcript: ENSMUST00000064814
AA Change: E586G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000069275
Gene: ENSMUSG00000028358
AA Change: E586G

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: E679G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103038
Gene: ENSMUSG00000028358
AA Change: E679G

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

Meta Mutation Damage Score

0.1082

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,033 (GRCm39)	N1263S	probably benign	Het
Alpk1	A	C	3: 127,473,486 (GRCm39)	V839G	possibly damaging	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Aox1	T	A	1: 58,329,058 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Arhgap24	T	C	5: 103,040,308 (GRCm39)	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,165,386 (GRCm39)	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Clstn1	A	G	4: 149,719,796 (GRCm39)	H437R	probably damaging	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Cspp1	C	A	1: 10,196,598 (GRCm39)	D157E	probably damaging	Het
Cyp4f16	T	C	17: 32,763,858 (GRCm39)	S217P	possibly damaging	Het
Ddx50	C	A	10: 62,475,723 (GRCm39)	V333F	probably damaging	Het
Dnai2	A	G	11: 114,629,551 (GRCm39)	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293 (GRCm39)	H4236Q	probably benign	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,528,753 (GRCm39)	Y499F	probably damaging	Het
Fa2h	A	G	8: 112,082,030 (GRCm39)		probably null	Het
Fads2b	A	T	2: 85,338,682 (GRCm39)		probably null	Het
Gli1	T	A	10: 127,173,934 (GRCm39)		probably benign	Het
Gm14403	A	G	2: 177,200,569 (GRCm39)	S172G	probably benign	Het
Grhl1	C	T	12: 24,634,918 (GRCm39)	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Helz2	A	G	2: 180,881,789 (GRCm39)	F335L	probably damaging	Het
Hr	G	A	14: 70,795,333 (GRCm39)	A322T	probably benign	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Iapp	A	G	6: 142,249,151 (GRCm39)	N68S	probably benign	Het
Kctd4	A	T	14: 76,200,726 (GRCm39)	L232F	probably benign	Het
Kdm5b	A	G	1: 134,543,679 (GRCm39)	I783V	probably benign	Het
Larp4b	T	A	13: 9,208,590 (GRCm39)	N414K	probably benign	Het
Ldb2	T	C	5: 44,630,736 (GRCm39)	E337G	probably benign	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,183,992 (GRCm39)		probably benign	Het
Ndrg2	C	A	14: 52,148,132 (GRCm39)		probably null	Het
Ndufaf3	C	A	9: 108,444,092 (GRCm39)	R12L	probably benign	Het
Nol4	A	T	18: 22,828,012 (GRCm39)	L634I	probably damaging	Het
Npr3	C	T	15: 11,895,876 (GRCm39)	A257T	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4g17	A	T	2: 111,209,638 (GRCm39)	M98L	possibly damaging	Het
Or51a7	T	C	7: 102,615,228 (GRCm39)		probably null	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pclo	C	T	5: 14,565,416 (GRCm39)	Q61*	probably null	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,356,531 (GRCm39)	L332P	probably benign	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rgl3	A	G	9: 21,887,321 (GRCm39)	I500T	probably damaging	Het
Rgs7	T	A	1: 175,016,785 (GRCm39)	I62F	probably benign	Het
Rttn	A	G	18: 88,995,831 (GRCm39)	N205D	probably damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Scn7a	G	A	2: 66,510,590 (GRCm39)	Q1271*	probably null	Het
Skor1	A	G	9: 63,052,868 (GRCm39)	V339A	probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,200,295 (GRCm39)	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,555,150 (GRCm39)	K80N	probably benign	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Steap4	G	T	5: 8,026,979 (GRCm39)	R314L	probably damaging	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Trav7d-4	A	T	14: 53,007,575 (GRCm39)	K23*	probably null	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 9,907,439 (GRCm39)	S96P	probably damaging	Het
Wdr25	T	C	12: 108,864,479 (GRCm39)	V208A	probably damaging	Het
Wdr27	C	T	17: 15,138,371 (GRCm39)	V360M	probably benign	Het
Zfp54	T	C	17: 21,653,814 (GRCm39)	C103R	possibly damaging	Het
Zfp846	A	G	9: 20,505,735 (GRCm39)	I532V	probably benign	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	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
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
R4565:Zfp618	UTSW	4	63,039,588 (GRCm39)	missense	probably damaging	1.00
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'- GTATACGTGACAGACTGCCG -3'
(R):5'- ATGACAGCCTGCTTCACAG -3'

Sequencing Primer
(F):5'- TGACAGACTGCCGGGTGAG -3'
(R):5'- CTTCACAGGGGTCAGGATG -3'

Posted On

2015-04-02