Mutagenetix > Incidental Mutation

Incidental Mutation 'R1579:Zfp408'

171263

Institutional Source

Beutler Lab

Gene Symbol

Zfp408

Ensembl Gene

ENSMUSG00000075040

Gene Name

zinc finger protein 408

Synonyms

LOC381410

MMRRC Submission

039616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1579 (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 91476473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 227 (L227P)

Ref Sequence

ENSEMBL: ENSMUSP00000106965 (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 benign
Transcript: ENSMUST00000099714
AA Change: L327P

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
AA Change: L327P

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

probably benign
Transcript: ENSMUST00000111333
AA Change: L227P

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040
AA Change: L227P

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	C	16: 3,724,039 (GRCm39)	R162G	probably benign	Het
Adamtsl4	T	A	3: 95,592,807 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,711,898 (GRCm39)	L306H	probably damaging	Het
Aknad1	T	A	3: 108,659,452 (GRCm39)	Y155*	probably null	Het
Aldh6a1	C	T	12: 84,488,622 (GRCm39)	R88H	possibly damaging	Het
Apc2	G	C	10: 80,147,179 (GRCm39)	K715N	probably damaging	Het
Arhgap45	G	A	10: 79,864,811 (GRCm39)	V798M	probably damaging	Het
Calcrl	T	C	2: 84,163,881 (GRCm39)	T437A	probably benign	Het
Cdan1	A	G	2: 120,561,220 (GRCm39)	F183L	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntnap4	A	G	8: 113,608,462 (GRCm39)	E1294G	possibly damaging	Het
Crybg3	C	A	16: 59,350,561 (GRCm39)	G2607V	probably damaging	Het
Dhx29	G	T	13: 113,072,132 (GRCm39)		probably null	Het
Dmrtb1	T	A	4: 107,541,322 (GRCm39)	H13L	probably damaging	Het
Echdc2	A	G	4: 108,031,006 (GRCm39)	M162V	probably benign	Het
Entpd8	A	G	2: 24,974,986 (GRCm39)	D439G	possibly damaging	Het
Fastkd2	C	G	1: 63,785,046 (GRCm39)	H477Q	probably null	Het
Fbrs	A	G	7: 127,084,529 (GRCm39)	E517G	probably damaging	Het
Gchfr	A	G	2: 119,002,502 (GRCm39)	T71A	possibly damaging	Het
Hecw1	A	T	13: 14,552,492 (GRCm39)	C35S	probably damaging	Het
Izumo1r	C	T	9: 14,813,098 (GRCm39)	R58H	probably benign	Het
Kif13a	T	C	13: 46,906,332 (GRCm39)	E537G	possibly damaging	Het
Kif13b	G	A	14: 65,019,790 (GRCm39)		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,378,340 (GRCm39)	D140E	probably damaging	Het
Ltbp1	A	G	17: 75,559,362 (GRCm39)	M284V	probably benign	Het
Me3	A	T	7: 89,495,050 (GRCm39)	T323S	possibly damaging	Het
Mtus1	A	G	8: 41,535,895 (GRCm39)	V607A	probably damaging	Het
Myh14	A	T	7: 44,305,118 (GRCm39)		probably null	Het
Myo1h	T	A	5: 114,485,496 (GRCm39)	C545*	probably null	Het
Nbn	T	A	4: 15,964,289 (GRCm39)	D121E	probably damaging	Het
Nox4	A	G	7: 87,019,231 (GRCm39)	Y408C	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or10q1b	A	G	19: 13,682,566 (GRCm39)	D125G	probably damaging	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or5w20	G	A	2: 87,727,286 (GRCm39)	A248T	probably benign	Het
Osbpl5	T	C	7: 143,262,939 (GRCm39)	T150A	possibly damaging	Het
Pgap3	C	A	11: 98,280,879 (GRCm39)	M265I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd2l2	A	T	18: 34,560,446 (GRCm39)	N351I	possibly damaging	Het
Prkdc	T	A	16: 15,493,192 (GRCm39)	Y700N	probably benign	Het
Pzp	A	G	6: 128,500,931 (GRCm39)		probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptor	A	T	11: 119,786,827 (GRCm39)	Q1264L	probably benign	Het
Scnn1a	T	C	6: 125,299,103 (GRCm39)	F61S	probably damaging	Het
Tenm2	C	A	11: 35,997,610 (GRCm39)	W825C	probably damaging	Het
Tex264	A	T	9: 106,559,116 (GRCm39)	I70N	possibly damaging	Het
Tns2	G	T	15: 102,019,645 (GRCm39)	D504Y	probably damaging	Het
Trappc14	T	C	5: 138,260,128 (GRCm39)	I338V	probably benign	Het
Trpc2	T	A	7: 101,733,447 (GRCm39)	F132Y	probably damaging	Het
Trpm4	A	G	7: 44,958,021 (GRCm39)	F816S	probably damaging	Het
Uqcc1	G	A	2: 155,763,641 (GRCm39)	Q5*	probably null	Het
Usp36	G	T	11: 118,175,771 (GRCm39)	T130N	probably damaging	Het
Vav1	A	G	17: 57,604,252 (GRCm39)	M165V	probably benign	Het
Vmn1r64	A	T	7: 5,886,803 (GRCm39)	F247I	probably damaging	Het
Vmn2r26	G	C	6: 124,016,706 (GRCm39)	R390P	probably benign	Het
Vmn2r57	G	T	7: 41,049,548 (GRCm39)	H734N	probably benign	Het
Wfdc16	G	T	2: 164,477,843 (GRCm39)	H69N	possibly damaging	Het
Zfp316	C	T	5: 143,239,317 (GRCm39)	E901K	probably damaging	Het
Zfp334	T	C	2: 165,223,719 (GRCm39)	E108G	probably damaging	Het
Zfp407	T	C	18: 84,227,763 (GRCm39)	S1949G	probably benign	Het
Zfp560	T	C	9: 20,259,287 (GRCm39)	H525R	possibly damaging	Het
Zfp609	G	A	9: 65,611,754 (GRCm39)	A403V	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
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
R2071:Zfp408	UTSW	2	91,476,363 (GRCm39)	missense	probably damaging	0.96
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'- GGTTTTGCCGCATTGCTCACAC -3'
(R):5'- GTTGCTTCACGATGACAGCATGG -3'

Sequencing Primer
(F):5'- AGTGGACCACCTGATGTTCC -3'
(R):5'- GCATGGATAAACAGTGCCTAC -3'

Posted On

2014-04-13