Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Zfp408'

227110

Institutional Source

Beutler Lab

Gene Symbol

Zfp408

Ensembl Gene

ENSMUSG00000075040

Gene Name

zinc finger protein 408

Synonyms

LOC381410

MMRRC Submission

040076-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91474014-91480136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91476363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 364 (F364L)

Ref Sequence

ENSEMBL: ENSMUSP00000097301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090614] [ENSMUST00000099714] [ENSMUST00000111329] [ENSMUST00000111331] [ENSMUST00000111333] [ENSMUST00000145582]

AlphaFold

H7BX78

Predicted Effect

probably benign
Transcript: ENSMUST00000090614

SMART Domains

Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
SEC14	64	215	5.08e-25	SMART
low complexity region	224	238	N/A	INTRINSIC
RhoGAP	257	428	1.06e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099714
AA Change: F364L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
AA Change: F364L

Domain	Start	End	E-Value	Type
ZnF_C2H2	344	366	7.05e-1	SMART
ZnF_C2H2	372	394	1.67e-2	SMART
ZnF_C2H2	400	422	2.24e-3	SMART
ZnF_C2H2	428	450	8.6e-5	SMART
ZnF_C2H2	459	481	5.9e-3	SMART
ZnF_C2H2	487	509	4.87e-4	SMART
ZnF_C2H2	515	537	2.95e-3	SMART
ZnF_C2H2	542	564	2.2e-2	SMART
ZnF_C2H2	570	592	1.69e-3	SMART
ZnF_C2H2	598	620	3.89e-3	SMART
low complexity region	625	638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111329

SMART Domains

Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
SEC14	64	215	5.08e-25	SMART
low complexity region	224	238	N/A	INTRINSIC
RhoGAP	257	428	1.06e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111331

SMART Domains

Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	82	92	N/A	INTRINSIC
SEC14	104	255	5.08e-25	SMART
low complexity region	264	278	N/A	INTRINSIC
RhoGAP	297	468	1.06e-61	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111333
AA Change: F264L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040
AA Change: F264L

Domain	Start	End	E-Value	Type
ZnF_C2H2	244	266	7.05e-1	SMART
ZnF_C2H2	272	294	1.67e-2	SMART
ZnF_C2H2	300	322	2.24e-3	SMART
ZnF_C2H2	328	350	8.6e-5	SMART
ZnF_C2H2	359	381	5.9e-3	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	437	2.95e-3	SMART
ZnF_C2H2	442	464	2.2e-2	SMART
ZnF_C2H2	470	492	1.69e-3	SMART
ZnF_C2H2	498	520	3.89e-3	SMART
low complexity region	525	538	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152769

Predicted Effect

probably benign
Transcript: ENSMUST00000145582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,474 (GRCm39)	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Adam33	T	C	2: 130,897,266 (GRCm39)	T310A	probably benign	Het
Afm	A	G	5: 90,671,594 (GRCm39)	D92G	probably benign	Het
Arg1	C	T	10: 24,798,561 (GRCm39)	A30T	probably benign	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,488 (GRCm39)	V1474A	probably benign	Het
Atp12a	A	G	14: 56,603,466 (GRCm39)	K24E	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cep295	T	C	9: 15,252,860 (GRCm39)	R323G	probably damaging	Het
Chek2	T	C	5: 110,989,112 (GRCm39)		probably benign	Het
Chga	A	T	12: 102,529,122 (GRCm39)	K366N	probably damaging	Het
Chrm5	T	C	2: 112,309,572 (GRCm39)	K515E	probably null	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Eif1ad8	T	A	12: 87,563,822 (GRCm39)	F52L	probably benign	Het
Fzd3	A	G	14: 65,473,012 (GRCm39)	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,312,775 (GRCm39)	K846E	probably benign	Het
Gpatch11	T	C	17: 79,148,514 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,210,772 (GRCm39)	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,783,931 (GRCm39)	F72L	probably benign	Het
Kat14	T	C	2: 144,231,136 (GRCm39)	L181P	probably damaging	Het
Kifc3	A	T	8: 95,834,981 (GRCm39)		probably null	Het
Kntc1	G	T	5: 123,932,340 (GRCm39)		probably null	Het
Man2b1	G	T	8: 85,812,013 (GRCm39)	V156L	possibly damaging	Het
Mast1	T	C	8: 85,647,823 (GRCm39)	D517G	probably damaging	Het
Mc1r	T	C	8: 124,135,108 (GRCm39)	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,907,843 (GRCm39)	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725 (GRCm39)	I52N	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Nap1l1	C	T	10: 111,328,761 (GRCm39)	T230I	possibly damaging	Het
Niban1	T	C	1: 151,512,181 (GRCm39)	F28L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Nudt13	T	A	14: 20,354,045 (GRCm39)	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pde10a	A	T	17: 9,180,827 (GRCm39)	I754F	probably benign	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Pgap6	T	C	17: 26,341,017 (GRCm39)	Y176H	probably damaging	Het
Polr1a	T	A	6: 71,953,058 (GRCm39)	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076 (GRCm39)	V19A	probably benign	Het
Pramel34	T	G	5: 93,784,375 (GRCm39)	Q363P	probably damaging	Het
Pth1r	A	G	9: 110,556,081 (GRCm39)	I264T	probably benign	Het
Ptprn	C	A	1: 75,231,788 (GRCm39)	G504C	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rev3l	T	A	10: 39,700,349 (GRCm39)	D1615E	probably benign	Het
Rhob	A	G	12: 8,549,232 (GRCm39)	M134T	probably benign	Het
Slc10a4	T	C	5: 73,164,840 (GRCm39)	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,905,370 (GRCm39)	L131P	probably damaging	Het
Slf1	T	A	13: 77,252,743 (GRCm39)	E259D	probably benign	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Sorl1	T	C	9: 41,890,753 (GRCm39)	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,979,623 (GRCm39)	I243N	possibly damaging	Het
Specc1	A	C	11: 62,008,701 (GRCm39)	K152N	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tcstv2b	A	T	13: 120,373,836 (GRCm39)	D151E	probably benign	Het
Tep1	T	C	14: 51,091,739 (GRCm39)	K601E	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,524,030 (GRCm39)	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,312,244 (GRCm39)	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,658,995 (GRCm39)	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het
Vmn2r103	A	T	17: 20,014,056 (GRCm39)	I283L	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfyve26	A	G	12: 79,334,220 (GRCm39)	L266P	possibly damaging	Het

Other mutations in Zfp408

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Zfp408	APN	2	91,478,351 (GRCm39)	splice site	probably benign
IGL02374:Zfp408	APN	2	91,476,156 (GRCm39)	missense	probably damaging	1.00
IGL03012:Zfp408	APN	2	91,478,153 (GRCm39)	missense	probably benign
Innuendo	UTSW	2	91,476,690 (GRCm39)	missense	probably benign	0.06
Slander	UTSW	2	91,478,194 (GRCm39)	splice site	probably benign
R0467:Zfp408	UTSW	2	91,475,882 (GRCm39)	missense	possibly damaging	0.86
R0981:Zfp408	UTSW	2	91,475,528 (GRCm39)	missense	probably benign	0.38
R1579:Zfp408	UTSW	2	91,476,473 (GRCm39)	missense	probably benign	0.05
R1673:Zfp408	UTSW	2	91,476,353 (GRCm39)	missense	probably damaging	0.97
R1935:Zfp408	UTSW	2	91,480,093 (GRCm39)	start codon destroyed	probably null	0.95
R2127:Zfp408	UTSW	2	91,475,519 (GRCm39)	missense	probably damaging	0.98
R2141:Zfp408	UTSW	2	91,478,194 (GRCm39)	splice site	probably benign
R3688:Zfp408	UTSW	2	91,476,777 (GRCm39)	missense	probably benign	0.00
R4681:Zfp408	UTSW	2	91,476,131 (GRCm39)	missense	probably damaging	1.00
R4782:Zfp408	UTSW	2	91,475,369 (GRCm39)	missense	possibly damaging	0.88
R4939:Zfp408	UTSW	2	91,475,450 (GRCm39)	missense	probably damaging	1.00
R5306:Zfp408	UTSW	2	91,476,690 (GRCm39)	missense	probably benign	0.06
R5344:Zfp408	UTSW	2	91,475,588 (GRCm39)	missense	probably benign	0.15
R6054:Zfp408	UTSW	2	91,479,636 (GRCm39)	missense	probably benign	0.00
R7985:Zfp408	UTSW	2	91,476,776 (GRCm39)	missense	probably benign
R8193:Zfp408	UTSW	2	91,475,361 (GRCm39)	missense	probably benign	0.00
R9075:Zfp408	UTSW	2	91,476,065 (GRCm39)	missense	possibly damaging	0.77
R9135:Zfp408	UTSW	2	91,475,528 (GRCm39)	missense	probably damaging	1.00
R9514:Zfp408	UTSW	2	91,478,368 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp408	UTSW	2	91,478,150 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGGTTTTGCCGCATTGCTC -3'
(R):5'- TAGATGTCCCCAGCAGTCAGTG -3'

Sequencing Primer
(F):5'- CCTGAGTGGACCACCTGATGTTC -3'
(R):5'- AGTCAGTGCCCGTCTATAGC -3'

Posted On

2014-09-17