Mutagenetix > Incidental Mutation

Incidental Mutation 'R8822:Zfp318'

673148

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

MMRRC Submission

068655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8822 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46694657-46731846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46723831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1945 (T1945A)

Ref Sequence

ENSEMBL: ENSMUSP00000109109 (fasta)

Gene Model

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

AlphaFold

Q99PP2

Predicted Effect

probably benign
Transcript: ENSMUST00000113481
AA Change: T1945A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: T1945A

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 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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb1	T	C	19: 56,711,849 (GRCm39)	V349A	probably damaging	Het
Atp2a2	A	G	5: 122,629,772 (GRCm39)	V99A	possibly damaging	Het
Bank1	T	A	3: 135,809,640 (GRCm39)	D418V	possibly damaging	Het
Cacna1d	A	G	14: 29,900,692 (GRCm39)	V331A	probably benign	Het
Cd28	A	T	1: 60,808,820 (GRCm39)	N178I	possibly damaging	Het
Cdcp3	A	T	7: 130,843,706 (GRCm39)		probably null	Het
Ceacam12	T	C	7: 17,803,378 (GRCm39)		probably benign	Het
Cfap54	G	A	10: 92,875,003 (GRCm39)	A494V	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Cplane1	T	C	15: 8,201,262 (GRCm39)	I13T	probably damaging	Het
Cplx3	A	G	9: 57,514,471 (GRCm39)	V493A	probably benign	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Fam151a	A	T	4: 106,602,842 (GRCm39)	M254L	probably benign	Het
Fyco1	A	T	9: 123,648,184 (GRCm39)	I1250N	probably damaging	Het
Gm6685	T	G	11: 28,289,768 (GRCm39)	Q16P	probably benign	Het
Gpr26	A	G	7: 131,568,997 (GRCm39)	Y114C	probably damaging	Het
Helb	A	T	10: 119,941,389 (GRCm39)	V433D	probably benign	Het
Hps3	A	G	3: 20,057,391 (GRCm39)	W930R	probably benign	Het
Igdcc4	C	T	9: 65,031,298 (GRCm39)	T412I	possibly damaging	Het
Klhl35	T	C	7: 99,122,055 (GRCm39)	V485A	probably benign	Het
Lmo7	A	G	14: 102,121,610 (GRCm39)	D225G	probably damaging	Het
Myo15a	C	T	11: 60,367,740 (GRCm39)	R167C	probably damaging	Het
Obp2a	A	T	2: 25,590,188 (GRCm39)	D29V	probably damaging	Het
Or10d3	C	A	9: 39,461,812 (GRCm39)	M118I	probably benign	Het
Or13a22	A	G	7: 140,072,926 (GRCm39)	Y125C	possibly damaging	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5d47	A	G	2: 87,804,785 (GRCm39)	S75P	possibly damaging	Het
Or8g4	A	G	9: 39,661,700 (GRCm39)	Y6C	probably benign	Het
Pde6b	A	G	5: 108,551,328 (GRCm39)	E204G	probably benign	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Pkd1l1	A	T	11: 8,806,312 (GRCm39)	I2054K		Het
Pkp1	T	A	1: 135,807,661 (GRCm39)	M536L	probably benign	Het
Platr25	T	C	13: 62,848,658 (GRCm39)	E68G	probably benign	Het
Plxna4	T	C	6: 32,127,431 (GRCm39)	D1892G	possibly damaging	Het
Pramel30	A	G	4: 144,057,092 (GRCm39)	K92E	probably benign	Het
Prr12	A	G	7: 44,699,763 (GRCm39)	L76P	unknown	Het
Ptprz1	T	A	6: 23,002,588 (GRCm39)	N1559K	probably damaging	Het
Rbl2	A	T	8: 91,833,346 (GRCm39)	N750I	possibly damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rprd2	A	G	3: 95,691,613 (GRCm39)	S221P	probably damaging	Het
S100a4	T	C	3: 90,512,358 (GRCm39)	S14P	probably benign	Het
Samd11	A	T	4: 156,336,764 (GRCm39)	L25Q	probably damaging	Het
Sash1	G	A	10: 8,761,615 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,370,979 (GRCm39)	S534P	probably damaging	Het
Sec31b	C	A	19: 44,507,702 (GRCm39)	V781F	probably benign	Het
Setd1a	C	T	7: 127,385,332 (GRCm39)	L680F	possibly damaging	Het
Slc10a2	T	G	8: 5,139,149 (GRCm39)	Q265P	probably damaging	Het
Slc27a1	T	A	8: 72,033,308 (GRCm39)	D283E	probably damaging	Het
Slc38a4	G	A	15: 96,906,952 (GRCm39)	T262M	probably benign	Het
Slc52a3	T	G	2: 151,846,513 (GRCm39)	V158G	probably benign	Het
Snx16	T	C	3: 10,484,125 (GRCm39)	V64A	probably benign	Het
Stox1	A	T	10: 62,499,900 (GRCm39)	W887R	probably damaging	Het
Tcap	G	A	11: 98,275,264 (GRCm39)	V133M	probably benign	Het
Ticam1	A	G	17: 56,578,444 (GRCm39)	L217P	probably damaging	Het
Tnfrsf12a	T	C	17: 23,895,188 (GRCm39)	S87G	probably benign	Het
Tyr	G	A	7: 87,142,330 (GRCm39)	R77C	probably damaging	Het
Uba6	A	G	5: 86,294,932 (GRCm39)		probably benign	Het
Usp24	G	A	4: 106,269,410 (GRCm39)	V2107M	probably benign	Het
Wdr64	T	C	1: 175,544,920 (GRCm39)	S118P	probably damaging	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zfp263	G	T	16: 3,562,004 (GRCm39)		probably benign	Het
Zfp644	G	T	5: 106,783,087 (GRCm39)	R1065S	possibly damaging	Het
Zfp668	A	T	7: 127,466,315 (GRCm39)	S290T	probably damaging	Het
Zfp808	T	A	13: 62,320,869 (GRCm39)	D699E	probably 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
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'- GAATTGAGTCCGTCTCTCCC -3'
(R):5'- TCACTGGAACTGGAAGGATTAC -3'

Sequencing Primer
(F):5'- GAGTCCGTCTCTCCCTTCCAAAAG -3'
(R):5'- GGATTACACATGACAGATGACAC -3'

Posted On

2021-04-30