Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Zfp418'

503841

Institutional Source

Beutler Lab

Gene Symbol

Zfp418

Ensembl Gene

ENSMUSG00000034538

Gene Name

zinc finger protein 418

Synonyms

A230102I05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7174352-7186559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7185627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 530 (H530R)

Ref Sequence

ENSEMBL: ENSMUSP00000057159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051435]

AlphaFold

Q8BFS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051435
AA Change: H530R

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: H530R

Domain	Start	End	E-Value	Type
KRAB	25	78	2.58e-17	SMART
low complexity region	196	211	N/A	INTRINSIC
ZnF_C2H2	256	278	6.32e-3	SMART
ZnF_C2H2	284	306	2.57e-3	SMART
ZnF_C2H2	312	334	1.56e-2	SMART
ZnF_C2H2	340	362	1.36e-2	SMART
ZnF_C2H2	368	390	1.82e-3	SMART
ZnF_C2H2	396	418	1.04e-3	SMART
ZnF_C2H2	424	446	2.75e-3	SMART
ZnF_C2H2	452	474	4.47e-3	SMART
ZnF_C2H2	480	502	1.58e-3	SMART
ZnF_C2H2	508	530	8.6e-5	SMART
ZnF_C2H2	536	558	7.78e-3	SMART
ZnF_C2H2	564	586	1.5e-4	SMART
ZnF_C2H2	592	614	4.54e-4	SMART
ZnF_C2H2	620	642	5.59e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,730 (GRCm39)	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 48,910,134 (GRCm39)	N766K	probably benign	Het
Adam15	A	C	3: 89,251,190 (GRCm39)	I505S	probably benign	Het
Apc2	T	C	10: 80,142,254 (GRCm39)	M391T	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bclaf1	A	G	10: 20,210,374 (GRCm39)	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,216,021 (GRCm39)	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,724,863 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,851,633 (GRCm39)	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,526,671 (GRCm39)	S469T	probably benign	Het
Dzip3	A	T	16: 48,778,828 (GRCm39)	M323K	possibly damaging	Het
Eci2	T	A	13: 35,177,048 (GRCm39)		probably null	Het
Fam227b	A	T	2: 125,968,882 (GRCm39)	V64E	probably damaging	Het
Galnt2	A	G	8: 125,070,054 (GRCm39)	I524V	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm3443	T	A	19: 21,533,110 (GRCm39)	S25T	probably damaging	Het
Gpr22	T	A	12: 31,761,616 (GRCm39)	K14*	probably null	Het
Grip1	T	C	10: 119,822,251 (GRCm39)	S405P	possibly damaging	Het
Helz2	T	C	2: 180,877,738 (GRCm39)	H1020R	probably damaging	Het
Helz2	C	A	2: 180,874,087 (GRCm39)	V2136L	probably benign	Het
Il36rn	G	A	2: 24,167,502 (GRCm39)		probably benign	Het
Iqsec1	T	A	6: 90,666,617 (GRCm39)	S607C	probably damaging	Het
Irag1	G	A	7: 110,476,112 (GRCm39)	T819M	probably benign	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,168,645 (GRCm39)	I595V	unknown	Het
Large2	T	C	2: 92,200,981 (GRCm39)	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,009,881 (GRCm39)	Y122H	probably damaging	Het
Map1b	A	T	13: 99,569,714 (GRCm39)	D1002E	unknown	Het
Mink1	C	T	11: 70,489,720 (GRCm39)	T59I	possibly damaging	Het
Myo7b	T	C	18: 32,092,507 (GRCm39)	N2097D	probably benign	Het
Nbea	C	A	3: 55,535,905 (GRCm39)	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,490,257 (GRCm39)	V490E	probably damaging	Het
Or2w1b	G	A	13: 21,300,401 (GRCm39)	E180K	probably damaging	Het
Or2y3	A	G	17: 38,393,620 (GRCm39)	M83T	probably damaging	Het
Or4c123	G	T	2: 89,127,306 (GRCm39)	H103N	probably damaging	Het
Or4f62	T	C	2: 111,986,701 (GRCm39)	I135T	probably damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pdcl3	T	C	1: 39,027,152 (GRCm39)		probably null	Het
Pheta2	T	A	15: 82,227,917 (GRCm39)	H145Q	probably benign	Het
Pira12	A	T	7: 3,897,031 (GRCm39)	S602T	possibly damaging	Het
Pkp1	T	C	1: 135,807,646 (GRCm39)	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,898,992 (GRCm39)	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,430 (GRCm39)	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,098,823 (GRCm39)	Y712H	probably damaging	Het
Prune2	T	C	19: 17,098,926 (GRCm39)	S1477P	probably benign	Het
Psma5	A	G	3: 108,187,118 (GRCm39)	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,106,286 (GRCm39)	A284P	probably benign	Het
Samsn1	G	A	16: 75,742,162 (GRCm39)		noncoding transcript	Het
Scel	A	G	14: 103,809,478 (GRCm39)	T273A	probably benign	Het
Slc22a5	T	A	11: 53,782,444 (GRCm39)		probably benign	Het
Slc25a37	A	T	14: 69,486,953 (GRCm39)	M110K	possibly damaging	Het
Slc6a2	A	T	8: 93,708,609 (GRCm39)	M242L	probably benign	Het
Slc8a3	C	A	12: 81,246,341 (GRCm39)	W904L	probably benign	Het
Ss18l1	G	A	2: 179,696,905 (GRCm39)	V109I	probably benign	Het
Tbx5	C	T	5: 119,991,663 (GRCm39)	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,360,342 (GRCm39)	L244F	probably damaging	Het
Tmem107	T	A	11: 68,962,241 (GRCm39)	V66E	probably damaging	Het
Tnr	T	C	1: 159,715,884 (GRCm39)	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,781,733 (GRCm39)	V340A	possibly damaging	Het
Veph1	T	C	3: 66,162,481 (GRCm39)	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,449,983 (GRCm39)	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,610 (GRCm39)	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,818,436 (GRCm39)	E620G	probably benign	Het
Zfp764l1	C	T	7: 126,992,581 (GRCm39)	A10T	possibly damaging	Het

Other mutations in Zfp418

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Zfp418	APN	7	7,184,448 (GRCm39)	missense	possibly damaging	0.72
IGL02351:Zfp418	APN	7	7,177,690 (GRCm39)	splice site	probably benign
IGL02358:Zfp418	APN	7	7,177,690 (GRCm39)	splice site	probably benign
R4355_Zfp418_487	UTSW	7	7,175,161 (GRCm39)	missense	probably benign	0.02
R5592_zfp418_571	UTSW	7	7,184,314 (GRCm39)	missense	possibly damaging	0.72
P0029:Zfp418	UTSW	7	7,177,636 (GRCm39)	missense	probably damaging	0.98
R0018:Zfp418	UTSW	7	7,185,449 (GRCm39)	missense	probably benign	0.06
R0018:Zfp418	UTSW	7	7,185,449 (GRCm39)	missense	probably benign	0.06
R1065:Zfp418	UTSW	7	7,184,561 (GRCm39)	missense	probably benign	0.18
R1168:Zfp418	UTSW	7	7,185,500 (GRCm39)	missense	possibly damaging	0.91
R1660:Zfp418	UTSW	7	7,184,789 (GRCm39)	missense	probably benign	0.04
R1937:Zfp418	UTSW	7	7,185,401 (GRCm39)	missense	possibly damaging	0.71
R2266:Zfp418	UTSW	7	7,185,807 (GRCm39)	missense	probably benign	0.18
R3119:Zfp418	UTSW	7	7,184,688 (GRCm39)	missense	possibly damaging	0.53
R4355:Zfp418	UTSW	7	7,175,161 (GRCm39)	missense	probably benign	0.02
R4539:Zfp418	UTSW	7	7,184,276 (GRCm39)	missense	probably benign	0.18
R4735:Zfp418	UTSW	7	7,185,561 (GRCm39)	missense	probably damaging	0.96
R4756:Zfp418	UTSW	7	7,185,762 (GRCm39)	missense	possibly damaging	0.89
R4763:Zfp418	UTSW	7	7,184,444 (GRCm39)	missense	possibly damaging	0.53
R4810:Zfp418	UTSW	7	7,185,846 (GRCm39)	missense	possibly damaging	0.82
R5347:Zfp418	UTSW	7	7,185,534 (GRCm39)	missense	probably benign	0.40
R5592:Zfp418	UTSW	7	7,184,314 (GRCm39)	missense	possibly damaging	0.72
R5640:Zfp418	UTSW	7	7,184,980 (GRCm39)	nonsense	probably null
R5974:Zfp418	UTSW	7	7,185,199 (GRCm39)	missense	possibly damaging	0.95
R6209:Zfp418	UTSW	7	7,185,096 (GRCm39)	missense	possibly damaging	0.51
R6502:Zfp418	UTSW	7	7,185,599 (GRCm39)	missense	possibly damaging	0.86
R6619:Zfp418	UTSW	7	7,184,895 (GRCm39)	missense	probably damaging	0.98
R7205:Zfp418	UTSW	7	7,184,562 (GRCm39)	missense	probably benign	0.33
R7299:Zfp418	UTSW	7	7,185,827 (GRCm39)	missense	possibly damaging	0.61
R7492:Zfp418	UTSW	7	7,184,396 (GRCm39)	missense	possibly damaging	0.53
R7774:Zfp418	UTSW	7	7,185,776 (GRCm39)	missense	possibly damaging	0.51
R7826:Zfp418	UTSW	7	7,185,668 (GRCm39)	missense	probably benign	0.32
R7974:Zfp418	UTSW	7	7,185,167 (GRCm39)	missense	possibly damaging	0.61
R8002:Zfp418	UTSW	7	7,184,873 (GRCm39)	missense	probably benign	0.04
R8182:Zfp418	UTSW	7	7,184,658 (GRCm39)	missense	probably benign	0.00
R8298:Zfp418	UTSW	7	7,185,814 (GRCm39)	nonsense	probably null
R8773:Zfp418	UTSW	7	7,185,797 (GRCm39)	missense	probably benign	0.06
R9280:Zfp418	UTSW	7	7,184,408 (GRCm39)	missense	possibly damaging	0.53
R9318:Zfp418	UTSW	7	7,185,435 (GRCm39)	missense	probably damaging	0.98
R9404:Zfp418	UTSW	7	7,185,104 (GRCm39)	missense	possibly damaging	0.71
R9648:Zfp418	UTSW	7	7,185,171 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TCTATGCTTTCGCCAGAGAG -3'
(R):5'- TAGTTCGGCTGAAGGTCTTCC -3'

Sequencing Primer
(F):5'- CCTCAGAAAGGCCTTATGAATGTAG -3'
(R):5'- ATAAGGCCTTTCACCAGTGTG -3'

Posted On

2018-02-27