Mutagenetix > Incidental Mutation

Incidental Mutation 'R1327:Zfp318'

157260

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

MMRRC Submission

039393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46694657-46731846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46724189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2064 (E2064G)

Ref Sequence

ENSEMBL: ENSMUSP00000109109 (fasta)

Gene Model

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

AlphaFold

Q99PP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113481
AA Change: E2064G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: E2064G

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

Meta Mutation Damage Score

0.0930

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.8%
20x: 88.1%

Validation Efficiency

97% (38/39)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,560,748 (GRCm39)	F99L	possibly damaging	Het
Arg1	T	C	10: 24,796,702 (GRCm39)		probably null	Het
Bsnd	C	T	4: 106,343,809 (GRCm39)	E166K	probably benign	Het
Cxcl9	A	G	5: 92,474,709 (GRCm39)	C30R	probably damaging	Het
Ect2l	C	T	10: 18,041,290 (GRCm39)	R296H	probably benign	Het
Epha5	C	A	5: 84,254,644 (GRCm39)	D632Y	probably damaging	Het
Fbxw11	T	C	11: 32,661,859 (GRCm39)	Y79H	probably benign	Het
Fh1	A	G	1: 175,437,310 (GRCm39)	M263T	probably benign	Het
Mrgprb1	A	T	7: 48,097,177 (GRCm39)	I245N	possibly damaging	Het
Ms4a13	A	T	19: 11,161,251 (GRCm39)	I96N	probably damaging	Het
Nipa2	G	A	7: 55,594,256 (GRCm39)	L38F	possibly damaging	Het
Pappa	T	A	4: 65,269,840 (GRCm39)		probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf111	A	T	9: 70,361,098 (GRCm39)	D454E	possibly damaging	Het
Rp1	C	T	1: 4,418,193 (GRCm39)	G973D	probably benign	Het
Rtn3	A	G	19: 7,408,376 (GRCm39)	V922A	possibly damaging	Het
Setbp1	T	C	18: 78,826,573 (GRCm39)	M1347V	probably benign	Het
Slc6a6	A	G	6: 91,703,016 (GRCm39)	I130V	probably benign	Het
Smad7	T	C	18: 75,509,016 (GRCm39)	S48P	probably benign	Het
Star	A	G	8: 26,299,865 (GRCm39)	D69G	probably benign	Het
Syne1	C	A	10: 4,998,925 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,743,743 (GRCm39)	N1212K	probably benign	Het
Tep1	T	C	14: 51,090,556 (GRCm39)	M721V	probably benign	Het
Txndc11	T	C	16: 10,934,678 (GRCm39)	D223G	possibly damaging	Het
Vit	G	A	17: 78,932,629 (GRCm39)	D579N	probably damaging	Het
Zan	T	C	5: 137,464,173 (GRCm39)		probably benign	Het
Zfp1005	A	T	2: 150,108,070 (GRCm39)	H10L	possibly damaging	Het
Zftraf1	T	A	15: 76,533,376 (GRCm39)	T121S	probably damaging	Het
Zic5	T	G	14: 122,697,191 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,784,240 (GRCm39)		probably null	Het

Other mutations in Zfp318

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Zfp318	APN	17	46,723,398 (GRCm39)	missense	probably benign	0.01
IGL00978:Zfp318	APN	17	46,724,652 (GRCm39)	missense	possibly damaging	0.64
IGL01016:Zfp318	APN	17	46,711,003 (GRCm39)	missense	probably damaging	1.00
IGL01310:Zfp318	APN	17	46,724,153 (GRCm39)	missense	possibly damaging	0.81
IGL01453:Zfp318	APN	17	46,719,942 (GRCm39)	splice site	probably null
IGL01887:Zfp318	APN	17	46,710,094 (GRCm39)	missense	probably benign	0.07
IGL02025:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02026:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02070:Zfp318	APN	17	46,707,644 (GRCm39)	missense	probably damaging	1.00
IGL02182:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02187:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02188:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02189:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02190:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02191:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02192:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02203:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02224:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02230:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02231:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02232:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02233:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02234:Zfp318	APN	17	46,707,736 (GRCm39)	nonsense	probably null
IGL02412:Zfp318	APN	17	46,720,043 (GRCm39)	nonsense	probably null
IGL02792:Zfp318	APN	17	46,720,104 (GRCm39)	missense	probably damaging	1.00
IGL02826:Zfp318	APN	17	46,709,680 (GRCm39)	missense	probably damaging	1.00
Wonton	UTSW	17	46,720,618 (GRCm39)	missense	possibly damaging	0.89
I0000:Zfp318	UTSW	17	46,710,485 (GRCm39)	missense	probably damaging	1.00
R0206:Zfp318	UTSW	17	46,709,945 (GRCm39)	missense	probably benign	0.07
R0240:Zfp318	UTSW	17	46,707,739 (GRCm39)	missense	probably benign	0.00
R0240:Zfp318	UTSW	17	46,707,739 (GRCm39)	missense	probably benign	0.00
R0281:Zfp318	UTSW	17	46,723,540 (GRCm39)	missense	probably benign	0.05
R0350:Zfp318	UTSW	17	46,724,124 (GRCm39)	missense	probably benign	0.00
R0383:Zfp318	UTSW	17	46,724,222 (GRCm39)	missense	probably damaging	0.99
R0453:Zfp318	UTSW	17	46,707,634 (GRCm39)	missense	probably damaging	0.96
R1014:Zfp318	UTSW	17	46,723,462 (GRCm39)	nonsense	probably null
R1166:Zfp318	UTSW	17	46,720,618 (GRCm39)	missense	possibly damaging	0.89
R1208:Zfp318	UTSW	17	46,723,446 (GRCm39)	unclassified	probably benign
R1208:Zfp318	UTSW	17	46,723,446 (GRCm39)	unclassified	probably benign
R1330:Zfp318	UTSW	17	46,724,684 (GRCm39)	missense	possibly damaging	0.90
R1737:Zfp318	UTSW	17	46,710,403 (GRCm39)	missense	probably benign	0.35
R1800:Zfp318	UTSW	17	46,722,980 (GRCm39)	missense	probably benign	0.00
R1846:Zfp318	UTSW	17	46,724,592 (GRCm39)	missense	probably benign	0.00
R1848:Zfp318	UTSW	17	46,716,981 (GRCm39)	missense	possibly damaging	0.92
R1861:Zfp318	UTSW	17	46,722,366 (GRCm39)	missense	possibly damaging	0.92
R1913:Zfp318	UTSW	17	46,723,450 (GRCm39)	unclassified	probably benign
R1913:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R2059:Zfp318	UTSW	17	46,707,950 (GRCm39)	missense	probably damaging	0.99
R2085:Zfp318	UTSW	17	46,720,590 (GRCm39)	splice site	probably null
R2122:Zfp318	UTSW	17	46,724,297 (GRCm39)	missense	probably benign	0.01
R2339:Zfp318	UTSW	17	46,710,389 (GRCm39)	missense	probably benign	0.01
R4526:Zfp318	UTSW	17	46,723,284 (GRCm39)	missense	probably benign	0.00
R4564:Zfp318	UTSW	17	46,723,741 (GRCm39)	missense	possibly damaging	0.77
R4689:Zfp318	UTSW	17	46,710,560 (GRCm39)	missense	probably damaging	0.99
R4795:Zfp318	UTSW	17	46,722,988 (GRCm39)	missense	probably benign	0.07
R5256:Zfp318	UTSW	17	46,722,995 (GRCm39)	missense	probably benign	0.19
R5317:Zfp318	UTSW	17	46,723,463 (GRCm39)	unclassified	probably benign
R5323:Zfp318	UTSW	17	46,697,662 (GRCm39)	missense	probably damaging	0.99
R5436:Zfp318	UTSW	17	46,723,975 (GRCm39)	missense	possibly damaging	0.95
R5485:Zfp318	UTSW	17	46,723,180 (GRCm39)	missense	possibly damaging	0.81
R5627:Zfp318	UTSW	17	46,724,062 (GRCm39)	missense	probably damaging	1.00
R5643:Zfp318	UTSW	17	46,720,170 (GRCm39)	intron	probably benign
R5782:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R5783:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R5820:Zfp318	UTSW	17	46,723,699 (GRCm39)	missense	probably benign
R5895:Zfp318	UTSW	17	46,709,959 (GRCm39)	missense	probably damaging	1.00
R6189:Zfp318	UTSW	17	46,723,440 (GRCm39)	unclassified	probably benign
R6385:Zfp318	UTSW	17	46,721,932 (GRCm39)	missense	probably damaging	1.00
R6428:Zfp318	UTSW	17	46,710,262 (GRCm39)	missense	probably damaging	1.00
R6471:Zfp318	UTSW	17	46,710,431 (GRCm39)	missense	probably benign	0.05
R6666:Zfp318	UTSW	17	46,720,140 (GRCm39)	missense	probably benign	0.01
R6812:Zfp318	UTSW	17	46,723,468 (GRCm39)	unclassified	probably benign
R6852:Zfp318	UTSW	17	46,723,464 (GRCm39)	unclassified	probably benign
R6852:Zfp318	UTSW	17	46,723,459 (GRCm39)	unclassified	probably benign
R6852:Zfp318	UTSW	17	46,723,460 (GRCm39)	unclassified	probably benign
R6854:Zfp318	UTSW	17	46,723,468 (GRCm39)	unclassified	probably benign
R6980:Zfp318	UTSW	17	46,708,138 (GRCm39)	missense	probably damaging	1.00
R6999:Zfp318	UTSW	17	46,710,969 (GRCm39)	missense	probably damaging	1.00
R7164:Zfp318	UTSW	17	46,716,865 (GRCm39)	missense	probably damaging	1.00
R7164:Zfp318	UTSW	17	46,708,232 (GRCm39)	critical splice donor site	probably null
R7175:Zfp318	UTSW	17	46,697,774 (GRCm39)	missense	probably damaging	1.00
R7233:Zfp318	UTSW	17	46,716,978 (GRCm39)	missense	probably damaging	0.99
R7339:Zfp318	UTSW	17	46,722,173 (GRCm39)	missense	probably damaging	0.99
R7426:Zfp318	UTSW	17	46,710,995 (GRCm39)	missense	probably damaging	1.00
R7600:Zfp318	UTSW	17	46,695,210 (GRCm39)	missense	possibly damaging	0.86
R7608:Zfp318	UTSW	17	46,710,935 (GRCm39)	missense	probably damaging	0.96
R7779:Zfp318	UTSW	17	46,710,820 (GRCm39)	missense	probably benign	0.16
R8057:Zfp318	UTSW	17	46,710,692 (GRCm39)	missense	possibly damaging	0.72
R8273:Zfp318	UTSW	17	46,723,301 (GRCm39)	missense	probably damaging	1.00
R8274:Zfp318	UTSW	17	46,723,915 (GRCm39)	missense	probably benign
R8695:Zfp318	UTSW	17	46,723,576 (GRCm39)	missense	probably benign	0.01
R8822:Zfp318	UTSW	17	46,723,831 (GRCm39)	missense	probably benign	0.00
R8851:Zfp318	UTSW	17	46,710,761 (GRCm39)	missense	probably damaging	1.00
R8913:Zfp318	UTSW	17	46,722,699 (GRCm39)	missense	probably benign	0.07
R8953:Zfp318	UTSW	17	46,731,356 (GRCm39)	missense	probably benign	0.38
R9031:Zfp318	UTSW	17	46,723,433 (GRCm39)	missense	probably benign	0.15
R9327:Zfp318	UTSW	17	46,721,892 (GRCm39)	missense	probably damaging	1.00
R9329:Zfp318	UTSW	17	46,722,139 (GRCm39)	missense	probably damaging	1.00
R9352:Zfp318	UTSW	17	46,721,284 (GRCm39)	missense	probably damaging	1.00
R9633:Zfp318	UTSW	17	46,710,421 (GRCm39)	missense	probably damaging	0.99
R9662:Zfp318	UTSW	17	46,724,383 (GRCm39)	missense	probably damaging	1.00
R9728:Zfp318	UTSW	17	46,707,713 (GRCm39)	missense	probably benign	0.10
R9755:Zfp318	UTSW	17	46,722,055 (GRCm39)	missense	probably damaging	1.00
X0026:Zfp318	UTSW	17	46,721,564 (GRCm39)	missense	possibly damaging	0.89
X0054:Zfp318	UTSW	17	46,723,535 (GRCm39)	missense	possibly damaging	0.79
X0065:Zfp318	UTSW	17	46,721,915 (GRCm39)	missense	probably benign	0.01
Z1176:Zfp318	UTSW	17	46,716,904 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACCAACTGCCCTGTCAGAGAAAATG -3'
(R):5'- CAGGTGTCCGTGTGACAAAATCAAC -3'

Sequencing Primer
(F):5'- CCCTGTCAGAGAAAATGTCTGAAG -3'
(R):5'- TGTGACAAAATCAACAAGGTCTG -3'

Posted On

2014-02-18