Mutagenetix > Incidental Mutation

Incidental Mutation 'R8851:Zfp318'

675034

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8851 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46694657-46731846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46710761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 828 (Y828F)

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: Y828F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: Y828F

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

probably damaging
Transcript: ENSMUST00000138127
AA Change: Y828F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597
AA Change: Y828F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,683 (GRCm39)	I279F	probably benign	Het
Adamts7	A	G	9: 90,075,163 (GRCm39)	N965S	probably benign	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankar	T	C	1: 72,691,535 (GRCm39)	Y1142C	probably damaging	Het
Apoa4	A	G	9: 46,153,906 (GRCm39)	K169R	probably benign	Het
Cd22	T	A	7: 30,577,084 (GRCm39)	K74N	probably benign	Het
Defa39	T	A	8: 22,193,555 (GRCm39)	I22F	possibly damaging	Het
Dgcr2	G	A	16: 17,690,507 (GRCm39)	T41I	possibly damaging	Het
Dicer1	A	G	12: 104,690,300 (GRCm39)	V245A	possibly damaging	Het
Dop1b	T	A	16: 93,559,398 (GRCm39)	S715T	probably benign	Het
Epb41l1	A	T	2: 156,364,431 (GRCm39)	H980L	probably benign	Het
Erc2	A	T	14: 28,039,216 (GRCm39)	E973V	probably null	Het
Fam124b	T	A	1: 80,190,882 (GRCm39)	Q167L	probably damaging	Het
Frmpd2	A	G	14: 33,217,643 (GRCm39)	E46G	probably damaging	Het
Gabrb2	G	A	11: 42,312,186 (GRCm39)	V4I	probably benign	Het
Gbf1	T	A	19: 46,256,922 (GRCm39)	N841K	probably damaging	Het
Gnpat	A	G	8: 125,601,004 (GRCm39)	H161R	probably damaging	Het
Gpd2	A	T	2: 57,197,062 (GRCm39)	M206L	possibly damaging	Het
Grid2ip	T	C	5: 143,348,352 (GRCm39)	F148L	possibly damaging	Het
Hemk1	A	G	9: 107,213,412 (GRCm39)	V128A	probably benign	Het
Ism1	G	T	2: 139,591,465 (GRCm39)	S273I	probably damaging	Het
Kcnab3	G	T	11: 69,218,990 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,291,993 (GRCm39)	Y1430H	unknown	Het
Lama2	A	G	10: 27,242,119 (GRCm39)	V279A	possibly damaging	Het
Lmf1	G	A	17: 25,804,680 (GRCm39)	W119*	probably null	Het
Lrrc42	A	G	4: 107,096,375 (GRCm39)	V276A	probably benign	Het
Magi2	T	C	5: 20,270,618 (GRCm39)	F163L	probably damaging	Het
Map2k2	A	G	10: 80,955,097 (GRCm39)	K196R	probably damaging	Het
Mfsd11	C	A	11: 116,752,479 (GRCm39)	D209E	probably benign	Het
Muc1	C	A	3: 89,138,425 (GRCm39)	F422L	probably benign	Het
Muc13	A	G	16: 33,631,273 (GRCm39)	H391R	probably benign	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Nfatc2ip	T	C	7: 125,986,617 (GRCm39)	Q346R	probably damaging	Het
Or8g2b	A	G	9: 39,751,600 (GRCm39)	Y290C	probably damaging	Het
Otol1	T	A	3: 69,935,299 (GRCm39)	D430E	probably damaging	Het
Pcdh1	T	C	18: 38,325,155 (GRCm39)	E929G	probably damaging	Het
Pip4p2	T	C	4: 14,912,491 (GRCm39)	M200T	possibly damaging	Het
Plekhf1	C	T	7: 37,921,466 (GRCm39)	R34H	probably damaging	Het
Plekhm2	A	T	4: 141,358,639 (GRCm39)	V622E	probably benign	Het
Pomt2	G	A	12: 87,184,838 (GRCm39)	T196I	probably damaging	Het
Ppp1r12c	C	T	7: 4,487,703 (GRCm39)	G436D	probably damaging	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,900,402 (GRCm39)	I176T	probably damaging	Het
Slc5a9	A	T	4: 111,755,790 (GRCm39)	V36E	probably damaging	Het
Slc7a1	A	C	5: 148,285,093 (GRCm39)	S133R	probably damaging	Het
Sox17	A	G	1: 4,562,073 (GRCm39)	Y376H	probably benign	Het
Spata4	T	C	8: 55,062,935 (GRCm39)	I280T	probably benign	Het
Svop	T	A	5: 114,192,557 (GRCm39)	I187F	probably damaging	Het
Tas2r103	T	A	6: 133,013,896 (GRCm39)	I57F		Het
Tead3	A	G	17: 28,551,704 (GRCm39)	V463A	probably damaging	Het
Tenm4	G	C	7: 96,501,710 (GRCm39)	G1305R	probably damaging	Het
Top2a	A	T	11: 98,900,677 (GRCm39)	F594L	probably damaging	Het
Trim23	A	G	13: 104,334,573 (GRCm39)	T419A	possibly damaging	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Ttyh2	A	G	11: 114,593,090 (GRCm39)	I254V	probably benign	Het
Vmn2r58	T	C	7: 41,487,219 (GRCm39)	M559V	probably benign	Het
Wwp1	A	T	4: 19,643,437 (GRCm39)	H358Q	probably null	Het
Zcwpw1	A	C	5: 137,820,626 (GRCm39)	D597A	probably damaging	Het
Zfp608	T	A	18: 55,032,194 (GRCm39)	N582I	possibly damaging	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
R1327:Zfp318	UTSW	17	46,724,189 (GRCm39)	missense	probably damaging	1.00
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
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'- TCAATCATCTGTTGCTGTTCGG -3'
(R):5'- TGGAATGGACACCCGAACAG -3'

Sequencing Primer
(F):5'- GTGCATGTTGCCATCAGC -3'
(R):5'- CGAACAGGAATTCGCTTTACAG -3'

Posted On

2021-07-15