Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Zfp408'

484285

Institutional Source

Beutler Lab

Gene Symbol

Zfp408

Ensembl Gene

ENSMUSG00000075040

Gene Name

zinc finger protein 408

Synonyms

LOC381410

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91474014-91480136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91479636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 61 (V61L)

Ref Sequence

ENSEMBL: ENSMUSP00000097301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090614] [ENSMUST00000099714] [ENSMUST00000111329] [ENSMUST00000111330] [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: V61L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
AA Change: V61L

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: ENSMUST00000111330

SMART Domains

Protein: ENSMUSP00000106962
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

SMART Domains

Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040

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: ENSMUST00000127702

Predicted Effect

probably benign
Transcript: ENSMUST00000145582
AA Change: V61L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152769

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dhx35	T	A	2: 158,660,219 (GRCm39)	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Efs	C	T	14: 55,158,614 (GRCm39)	D15N	probably damaging	Het
Fbxl19	C	T	7: 127,351,681 (GRCm39)	T314I	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Hrg	A	T	16: 22,772,412 (GRCm39)	T74S	probably benign	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Pramel6	A	G	2: 87,339,003 (GRCm39)	T68A	probably benign	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Vrk2	A	T	11: 26,436,975 (GRCm39)	S281T	probably benign	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	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
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
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'- TTTCAGACAGATGTCCGACTCC -3'
(R):5'- GCTAATCCCTCGGACTCTTG -3'

Sequencing Primer
(F):5'- GATGTCCGACTCCTCAATACC -3'
(R):5'- CTCGGACTCTTGGGTCATAGC -3'

Posted On

2017-07-14