Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Zfp408'

187781

Institutional Source

Beutler Lab

Gene Symbol

Zfp408

Ensembl Gene

ENSMUSG00000075040

Gene Name

zinc finger protein 408

Synonyms

LOC381410

MMRRC Submission

039709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1673 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

91474014-91480136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91476353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 367 (T367I)

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: T367I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
AA Change: T367I

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: T267I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040
AA Change: T267I

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: ENSMUST00000152769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155045

Predicted Effect

probably benign
Transcript: ENSMUST00000145582

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,165 (GRCm39)	S809G	probably benign	Het
Ap4b1	T	A	3: 103,725,161 (GRCm39)		probably null	Het
Aqp12	A	G	1: 92,934,606 (GRCm39)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 60,028,689 (GRCm39)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,504,988 (GRCm39)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,927,113 (GRCm39)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,007,086 (GRCm39)	K554*	probably null	Het
Celsr1	A	G	15: 85,816,658 (GRCm39)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,983,983 (GRCm39)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,600,820 (GRCm39)	I755L	probably benign	Het
Cts3	G	A	13: 61,715,368 (GRCm39)	Q140*	probably null	Het
Ddx1	A	T	12: 13,294,967 (GRCm39)		probably null	Het
Dnah3	C	A	7: 119,570,402 (GRCm39)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,294 (GRCm39)	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,464,561 (GRCm39)	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,042,679 (GRCm39)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,192,404 (GRCm39)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,847,967 (GRCm39)		probably null	Het
Elp2	T	A	18: 24,744,983 (GRCm39)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,773,592 (GRCm39)		probably null	Het
F5	A	G	1: 164,007,089 (GRCm39)	T298A	probably damaging	Het
Fbxo21	G	T	5: 118,146,129 (GRCm39)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,211,196 (GRCm39)	F368L	possibly damaging	Het
Gcn1	T	C	5: 115,720,356 (GRCm39)	I409T	probably benign	Het
Gm12887	T	C	4: 121,473,655 (GRCm39)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm39)	Q224*	probably null	Het
Hdac5	C	T	11: 102,089,631 (GRCm39)	V860M	probably damaging	Het
Ino80	G	A	2: 119,212,417 (GRCm39)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,966 (GRCm39)	I110F	probably damaging	Het
Lrig3	A	G	10: 125,846,036 (GRCm39)	T822A	probably damaging	Het
Mapk6	T	C	9: 75,302,851 (GRCm39)	D214G	probably damaging	Het
Mcm2	A	T	6: 88,869,060 (GRCm39)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,317,455 (GRCm39)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,139,079 (GRCm39)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,577,276 (GRCm39)	S189T	probably benign	Het
Myh13	T	C	11: 67,242,945 (GRCm39)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,706,230 (GRCm39)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,841 (GRCm39)	I116T	probably damaging	Het
Nptn	T	C	9: 58,531,015 (GRCm39)	L46P	probably benign	Het
Or2b6	A	T	13: 21,823,214 (GRCm39)	S160T	probably damaging	Het
Or4k77	A	G	2: 111,199,552 (GRCm39)	T192A	probably benign	Het
Or51ag1	C	A	7: 103,155,896 (GRCm39)	V86F	probably damaging	Het
Or5ae1	T	A	7: 84,565,325 (GRCm39)	F113I	probably damaging	Het
Pgr	A	T	9: 8,902,069 (GRCm39)	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,877,093 (GRCm39)		probably null	Het
Pkd1l2	C	G	8: 117,767,514 (GRCm39)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,085,426 (GRCm39)	E457G	probably damaging	Het
Rasa4	T	A	5: 136,133,491 (GRCm39)	V650D	probably benign	Het
Rem2	C	T	14: 54,713,766 (GRCm39)		probably benign	Het
Rps18-ps6	A	T	13: 97,896,868 (GRCm39)	Y77N	possibly damaging	Het
Sdc1	G	A	12: 8,840,409 (GRCm39)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,934,261 (GRCm39)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,433,248 (GRCm39)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,949,891 (GRCm39)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,075,739 (GRCm39)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm39)	V334A	probably benign	Het
Sox8	A	T	17: 25,786,456 (GRCm39)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,387,807 (GRCm39)	V1416A	possibly damaging	Het
Stimate	T	C	14: 30,586,391 (GRCm39)	L72S	possibly damaging	Het
Stk24	T	A	14: 121,574,983 (GRCm39)	I42F	probably damaging	Het
Tasor2	A	G	13: 3,634,498 (GRCm39)		probably null	Het
Tcerg1	T	A	18: 42,685,646 (GRCm39)	L661Q	possibly damaging	Het
Tpp1	G	A	7: 105,396,880 (GRCm39)	R417W	probably damaging	Het
Trim12a	T	A	7: 103,955,264 (GRCm39)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,778,778 (GRCm39)	N396S	probably benign	Het
Ttn	T	C	2: 76,637,427 (GRCm39)	K5695R	probably damaging	Het
Ttn	G	A	2: 76,640,631 (GRCm39)	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,310,906 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,779,438 (GRCm39)	L1273H	probably damaging	Het
Usp33	A	G	3: 152,073,919 (GRCm39)	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,350,138 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,423,315 (GRCm39)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 35,115,286 (GRCm39)		probably null	Het
Zfp512b	G	A	2: 181,230,286 (GRCm39)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,258,949 (GRCm39)	T638A	probably benign	Het
Zfp932	G	T	5: 110,156,854 (GRCm39)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,302,696 (GRCm39)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,243,277 (GRCm39)	P91L	probably 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
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'- GCATTGCTCACACACAAAGGG -3'
(R):5'- TTAGATGTCCCCAGCAGTCAG -3'

Posted On

2014-05-09