Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Zfp318'

29354

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, D530032D06Rik, TZF

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

46383731-46420920 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46413726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2218 (D2218E)

Ref Sequence

ENSEMBL: ENSMUSP00000109109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113481] [ENSMUST00000138127] [ENSMUST00000152472]

AlphaFold

Q99PP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113481
AA Change: D2218E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: D2218E

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	30	127	N/A	INTRINSIC
low complexity region	150	169	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
coiled coil region	348	376	N/A	INTRINSIC
SCOP:d1eq1a_	916	995	2e-4	SMART
low complexity region	1018	1055	N/A	INTRINSIC
ZnF_U1	1085	1119	5.99e-7	SMART
ZnF_C2H2	1088	1112	4.5e1	SMART
ZnF_U1	1155	1189	2.1e-11	SMART
ZnF_C2H2	1158	1180	4.62e1	SMART
low complexity region	1225	1238	N/A	INTRINSIC
low complexity region	1358	1371	N/A	INTRINSIC
low complexity region	1640	1651	N/A	INTRINSIC
Blast:HNHc	1660	1710	3e-17	BLAST
low complexity region	2001	2013	N/A	INTRINSIC
low complexity region	2110	2121	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136017

Predicted Effect

probably benign
Transcript: ENSMUST00000138127

SMART Domains

Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	30	127	N/A	INTRINSIC
low complexity region	150	169	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
coiled coil region	348	376	N/A	INTRINSIC
Blast:HOLI	854	1114	8e-19	BLAST
SCOP:d1eq1a_	916	995	6e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152472

SMART Domains

Protein: ENSMUSP00000116132
Gene: ENSMUSG00000015597

Domain	Start	End	E-Value	Type
coiled coil region	3	30	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced male fertility and altered IgM and IgD levels. Null mutants displayed normal level of circulating B cells with decreased IgD and increased IgM levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Zfp318

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Zfp318	APN	17	46412472	missense	probably benign	0.01
IGL01016:Zfp318	APN	17	46400077	missense	probably damaging	1.00
IGL01310:Zfp318	APN	17	46413227	missense	possibly damaging	0.81
IGL01453:Zfp318	APN	17	46409016	splice site	probably null
IGL01887:Zfp318	APN	17	46399168	missense	probably benign	0.07
IGL02025:Zfp318	APN	17	46396810	nonsense	probably null
IGL02026:Zfp318	APN	17	46396810	nonsense	probably null
IGL02070:Zfp318	APN	17	46396718	missense	probably damaging	1.00
IGL02182:Zfp318	APN	17	46396810	nonsense	probably null
IGL02187:Zfp318	APN	17	46396810	nonsense	probably null
IGL02188:Zfp318	APN	17	46396810	nonsense	probably null
IGL02189:Zfp318	APN	17	46396810	nonsense	probably null
IGL02190:Zfp318	APN	17	46396810	nonsense	probably null
IGL02191:Zfp318	APN	17	46396810	nonsense	probably null
IGL02192:Zfp318	APN	17	46396810	nonsense	probably null
IGL02203:Zfp318	APN	17	46396810	nonsense	probably null
IGL02224:Zfp318	APN	17	46396810	nonsense	probably null
IGL02230:Zfp318	APN	17	46396810	nonsense	probably null
IGL02231:Zfp318	APN	17	46396810	nonsense	probably null
IGL02232:Zfp318	APN	17	46396810	nonsense	probably null
IGL02233:Zfp318	APN	17	46396810	nonsense	probably null
IGL02234:Zfp318	APN	17	46396810	nonsense	probably null
IGL02412:Zfp318	APN	17	46409117	nonsense	probably null
IGL02792:Zfp318	APN	17	46409178	missense	probably damaging	1.00
IGL02826:Zfp318	APN	17	46398754	missense	probably damaging	1.00
Wonton	UTSW	17	46409692	missense	possibly damaging	0.89
I0000:Zfp318	UTSW	17	46399559	missense	probably damaging	1.00
R0206:Zfp318	UTSW	17	46399019	missense	probably benign	0.07
R0240:Zfp318	UTSW	17	46396813	missense	probably benign	0.00
R0240:Zfp318	UTSW	17	46396813	missense	probably benign	0.00
R0281:Zfp318	UTSW	17	46412614	missense	probably benign	0.05
R0350:Zfp318	UTSW	17	46413198	missense	probably benign	0.00
R0383:Zfp318	UTSW	17	46413296	missense	probably damaging	0.99
R0453:Zfp318	UTSW	17	46396708	missense	probably damaging	0.96
R1014:Zfp318	UTSW	17	46412536	nonsense	probably null
R1166:Zfp318	UTSW	17	46409692	missense	possibly damaging	0.89
R1208:Zfp318	UTSW	17	46412520	unclassified	probably benign
R1208:Zfp318	UTSW	17	46412520	unclassified	probably benign
R1327:Zfp318	UTSW	17	46413263	missense	probably damaging	1.00
R1330:Zfp318	UTSW	17	46413758	missense	possibly damaging	0.90
R1737:Zfp318	UTSW	17	46399477	missense	probably benign	0.35
R1800:Zfp318	UTSW	17	46412054	missense	probably benign	0.00
R1846:Zfp318	UTSW	17	46413666	missense	probably benign	0.00
R1848:Zfp318	UTSW	17	46406055	missense	possibly damaging	0.92
R1861:Zfp318	UTSW	17	46411440	missense	possibly damaging	0.92
R1913:Zfp318	UTSW	17	46412524	unclassified	probably benign
R1913:Zfp318	UTSW	17	46412514	unclassified	probably benign
R2059:Zfp318	UTSW	17	46397024	missense	probably damaging	0.99
R2085:Zfp318	UTSW	17	46409664	splice site	probably null
R2122:Zfp318	UTSW	17	46413371	missense	probably benign	0.01
R2339:Zfp318	UTSW	17	46399463	missense	probably benign	0.01
R4526:Zfp318	UTSW	17	46412358	missense	probably benign	0.00
R4564:Zfp318	UTSW	17	46412815	missense	possibly damaging	0.77
R4689:Zfp318	UTSW	17	46399634	missense	probably damaging	0.99
R4795:Zfp318	UTSW	17	46412062	missense	probably benign	0.07
R5256:Zfp318	UTSW	17	46412069	missense	probably benign	0.19
R5317:Zfp318	UTSW	17	46412537	unclassified	probably benign
R5323:Zfp318	UTSW	17	46386736	missense	probably damaging	0.99
R5436:Zfp318	UTSW	17	46413049	missense	possibly damaging	0.95
R5485:Zfp318	UTSW	17	46412254	missense	possibly damaging	0.81
R5627:Zfp318	UTSW	17	46413136	missense	probably damaging	1.00
R5643:Zfp318	UTSW	17	46409244	intron	probably benign
R5782:Zfp318	UTSW	17	46412514	unclassified	probably benign
R5783:Zfp318	UTSW	17	46412514	unclassified	probably benign
R5820:Zfp318	UTSW	17	46412773	missense	probably benign
R5895:Zfp318	UTSW	17	46399033	missense	probably damaging	1.00
R6189:Zfp318	UTSW	17	46412514	unclassified	probably benign
R6385:Zfp318	UTSW	17	46411006	missense	probably damaging	1.00
R6428:Zfp318	UTSW	17	46399336	missense	probably damaging	1.00
R6471:Zfp318	UTSW	17	46399505	missense	probably benign	0.05
R6666:Zfp318	UTSW	17	46409214	missense	probably benign	0.01
R6812:Zfp318	UTSW	17	46412542	unclassified	probably benign
R6852:Zfp318	UTSW	17	46412533	unclassified	probably benign
R6852:Zfp318	UTSW	17	46412534	unclassified	probably benign
R6852:Zfp318	UTSW	17	46412538	unclassified	probably benign
R6854:Zfp318	UTSW	17	46412542	unclassified	probably benign
R6980:Zfp318	UTSW	17	46397212	missense	probably damaging	1.00
R6999:Zfp318	UTSW	17	46400043	missense	probably damaging	1.00
R7164:Zfp318	UTSW	17	46397306	critical splice donor site	probably null
R7164:Zfp318	UTSW	17	46405939	missense	probably damaging	1.00
R7175:Zfp318	UTSW	17	46386848	missense	probably damaging	1.00
R7233:Zfp318	UTSW	17	46406052	missense	probably damaging	0.99
R7339:Zfp318	UTSW	17	46411247	missense	probably damaging	0.99
R7426:Zfp318	UTSW	17	46400069	missense	probably damaging	1.00
R7600:Zfp318	UTSW	17	46384284	missense	possibly damaging	0.86
R7608:Zfp318	UTSW	17	46400009	missense	probably damaging	0.96
R7779:Zfp318	UTSW	17	46399894	missense	probably benign	0.16
R8057:Zfp318	UTSW	17	46399766	missense	possibly damaging	0.72
R8273:Zfp318	UTSW	17	46412375	missense	probably damaging	1.00
R8274:Zfp318	UTSW	17	46412989	missense	probably benign
R8695:Zfp318	UTSW	17	46412650	missense	probably benign	0.01
R8822:Zfp318	UTSW	17	46412905	missense	probably benign	0.00
R8851:Zfp318	UTSW	17	46399835	missense	probably damaging	1.00
R8913:Zfp318	UTSW	17	46411773	missense	probably benign	0.07
R8953:Zfp318	UTSW	17	46420430	missense	probably benign	0.38
R9031:Zfp318	UTSW	17	46412507	missense	probably benign	0.15
R9327:Zfp318	UTSW	17	46410966	missense	probably damaging	1.00
R9329:Zfp318	UTSW	17	46411213	missense	probably damaging	1.00
R9352:Zfp318	UTSW	17	46410358	missense	probably damaging	1.00
X0026:Zfp318	UTSW	17	46410638	missense	possibly damaging	0.89
X0054:Zfp318	UTSW	17	46412609	missense	possibly damaging	0.79
X0065:Zfp318	UTSW	17	46410989	missense	probably benign	0.01
Z1176:Zfp318	UTSW	17	46405978	missense	probably benign	0.03

Posted On

2013-04-17