Mutagenetix > Incidental Mutation

Incidental Mutation 'R7826:Zfp418'

602185

Institutional Source

Beutler Lab

Gene Symbol

Zfp418

Ensembl Gene

ENSMUSG00000034538

Gene Name

zinc finger protein 418

Synonyms

A230102I05Rik

MMRRC Submission

045880-MU

Accession Numbers

Essential gene?

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

Stock #

R7826 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7174352-7186559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7185668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 544 (F544L)

Ref Sequence

ENSEMBL: ENSMUSP00000057159 (fasta)

Gene Model

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

AlphaFold

Q8BFS8

Predicted Effect

probably benign
Transcript: ENSMUST00000051435
AA Change: F544L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057159
Gene: ENSMUSG00000034538
AA Change: F544L

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	C	A	2: 25,468,477 (GRCm39)	R478L	possibly damaging	Het
Arhgap27	T	C	11: 103,229,153 (GRCm39)	T521A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btbd9	A	T	17: 30,553,301 (GRCm39)	I387N	probably benign	Het
Ccdc27	C	T	4: 154,123,958 (GRCm39)		probably null	Het
Ccdc88a	A	T	11: 29,453,563 (GRCm39)	H1642L	probably benign	Het
Cd300c2	C	T	11: 114,891,644 (GRCm39)	V77I	possibly damaging	Het
Chrnb2	A	T	3: 89,670,550 (GRCm39)	S63T	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah5	C	T	15: 28,367,958 (GRCm39)	T2781M	probably damaging	Het
Donson	T	C	16: 91,485,344 (GRCm39)	D86G	possibly damaging	Het
Echs1	T	A	7: 139,696,349 (GRCm39)		probably benign	Het
Epha8	C	T	4: 136,663,498 (GRCm39)	M483I	probably benign	Het
Eprs1	T	G	1: 185,139,165 (GRCm39)	V850G	probably damaging	Het
Fbxw5	C	A	2: 25,392,561 (GRCm39)	C114*	probably null	Het
Gm5160	C	T	18: 14,558,129 (GRCm39)	R69C	probably benign	Het
Gpr75	A	G	11: 30,841,209 (GRCm39)	H38R	probably damaging	Het
Igsf9	T	C	1: 172,319,197 (GRCm39)	V230A	probably benign	Het
Lonp2	C	T	8: 87,435,641 (GRCm39)	P626S	probably damaging	Het
Lrrtm1	G	T	6: 77,221,095 (GRCm39)		probably null	Het
Man1a2	T	C	3: 100,489,455 (GRCm39)	E508G	probably damaging	Het
Mipep	C	A	14: 61,039,580 (GRCm39)	A203E	probably damaging	Het
Mrc1	T	A	2: 14,299,668 (GRCm39)	C753S	probably damaging	Het
Mthfr	A	G	4: 148,139,467 (GRCm39)	E568G	probably benign	Het
Naca	T	A	10: 127,879,479 (GRCm39)		probably benign	Het
Nek10	G	A	14: 14,860,846 (GRCm38)		probably null	Het
Nf2	T	C	11: 4,739,750 (GRCm39)	T419A	probably benign	Het
Npas3	A	G	12: 53,878,539 (GRCm39)	T164A	possibly damaging	Het
Nudcd3	T	A	11: 6,100,581 (GRCm39)	I124F	possibly damaging	Het
Or8g33	A	G	9: 39,337,423 (GRCm39)	*315Q	probably null	Het
Pappa2	A	T	1: 158,764,010 (GRCm39)	C500*	probably null	Het
Pcdhb18	T	A	18: 37,623,995 (GRCm39)	S442T	probably damaging	Het
Phactr4	T	C	4: 132,105,752 (GRCm39)	N105D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Pzp	T	C	6: 128,464,496 (GRCm39)	T1344A	probably benign	Het
Ranbp9	T	C	13: 43,573,097 (GRCm39)	I312V	possibly damaging	Het
Rsf1	A	G	7: 97,310,368 (GRCm39)		probably benign	Het
Slc6a4	A	T	11: 76,903,851 (GRCm39)	I150L	probably benign	Het
Smpd5	T	C	15: 76,180,496 (GRCm39)	S433P	probably benign	Het
Spats1	C	T	17: 45,763,644 (GRCm39)	D209N	probably damaging	Het
Spcs2	C	T	7: 99,488,984 (GRCm39)	G235R	probably damaging	Het
Sptlc3	T	C	2: 139,389,115 (GRCm39)	M165T	probably benign	Het
Synm	T	C	7: 67,385,337 (GRCm39)	D775G	probably damaging	Het
Tango6	A	G	8: 107,419,245 (GRCm39)	D264G	probably benign	Het
Tbc1d30	A	T	10: 121,132,710 (GRCm39)	L218H	probably damaging	Het
Tmem132d	A	G	5: 127,866,953 (GRCm39)	I649T	probably damaging	Het
Tmem145	T	C	7: 25,006,939 (GRCm39)	Y114H	probably damaging	Het
Triml1	A	T	8: 43,591,803 (GRCm39)	V185E	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,715,220 (GRCm39)		probably benign	Het
Utrn	C	T	10: 12,277,050 (GRCm39)		probably null	Het
Uty	T	C	Y: 1,137,716 (GRCm39)	K887E	possibly damaging	Het
Zfand2b	T	C	1: 75,145,502 (GRCm39)	F3L	possibly damaging	Het
Zfp280d	C	A	9: 72,219,953 (GRCm39)	Q243K	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
R6218:Zfp418	UTSW	7	7,185,627 (GRCm39)	missense	possibly damaging	0.73
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
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'- AGTTCGGCTGAAGGTCTTCC -3'

Sequencing Primer
(F):5'- GACAGTGCGGGAAATCTTATACCC -3'
(R):5'- GGCTGAAGGTCTTCCCACATTC -3'

Posted On

2019-12-03