Mutagenetix > Incidental Mutation

Incidental Mutation 'R1737:Zfp318'

199821

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

MMRRC Submission

039769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1737 (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 46710403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 709 (T709A)

Ref Sequence

ENSEMBL: ENSMUSP00000116544 (fasta)

Gene Model

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

AlphaFold

Q99PP2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083874

Predicted Effect

probably benign
Transcript: ENSMUST00000113481
AA Change: T709A

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: T709A

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
AA Change: T709A

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597
AA Change: T709A

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

0.0624

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.1%
20x: 91.4%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Ak7	G	A	12: 105,708,591 (GRCm39)	V349M	probably damaging	Het
Aldh1a2	A	T	9: 71,192,453 (GRCm39)	E436V	possibly damaging	Het
Apc	C	A	18: 34,450,075 (GRCm39)	P2290T	probably damaging	Het
Atp10a	T	C	7: 58,476,986 (GRCm39)		probably benign	Het
Bahd1	T	C	2: 118,746,404 (GRCm39)	S8P	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Capn10	T	C	1: 92,862,677 (GRCm39)	Y28H	probably benign	Het
Cdh10	A	T	15: 18,964,149 (GRCm39)	I104F	probably damaging	Het
Cep170b	A	G	12: 112,703,061 (GRCm39)	D508G	possibly damaging	Het
Ces2a	G	T	8: 105,467,456 (GRCm39)	A494S	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cltc	G	A	11: 86,624,553 (GRCm39)	T123M	probably damaging	Het
Cnot1	A	G	8: 96,474,904 (GRCm39)	S1102P	probably damaging	Het
Col12a1	C	A	9: 79,610,733 (GRCm39)	D224Y	probably damaging	Het
Col14a1	T	A	15: 55,208,357 (GRCm39)		probably benign	Het
Cyp7a1	T	A	4: 6,272,848 (GRCm39)	T122S	probably benign	Het
Dock4	A	G	12: 40,857,000 (GRCm39)		probably null	Het
Eid2	T	C	7: 27,967,924 (GRCm39)	V182A	possibly damaging	Het
Eloa	A	T	4: 135,738,081 (GRCm39)	V293D	probably benign	Het
Enkur	G	A	2: 21,199,106 (GRCm39)	P143S	probably damaging	Het
Ep300	T	C	15: 81,510,548 (GRCm39)	Y99H	probably damaging	Het
Fbxw5	C	A	2: 25,393,596 (GRCm39)	L66I	probably benign	Het
Flg2	A	T	3: 93,110,928 (GRCm39)	R985S	unknown	Het
Fscb	A	T	12: 64,521,355 (GRCm39)	I37K	possibly damaging	Het
H2-M10.3	T	C	17: 36,679,296 (GRCm39)	N3S	probably benign	Het
H2-Q7	A	C	17: 35,658,602 (GRCm39)	Y80S	probably damaging	Het
H60c	A	T	10: 3,209,914 (GRCm39)	D124E	possibly damaging	Het
Hsd3b2	A	T	3: 98,618,862 (GRCm39)	V361E	probably damaging	Het
Ice1	A	C	13: 70,754,444 (GRCm39)	C547W	probably damaging	Het
Itprid1	A	T	6: 55,945,289 (GRCm39)	D670V	probably damaging	Het
Jmy	A	G	13: 93,635,303 (GRCm39)	V171A	probably damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Klk1b1	A	T	7: 43,619,783 (GRCm39)	Q114L	probably benign	Het
Krt10	A	G	11: 99,278,213 (GRCm39)	M280T	possibly damaging	Het
Lama1	G	A	17: 68,109,916 (GRCm39)	R2179Q	probably benign	Het
Mbd3l1	C	T	9: 18,396,225 (GRCm39)	P117S	possibly damaging	Het
Med18	A	T	4: 132,187,420 (GRCm39)	S71R	probably damaging	Het
Mov10l1	T	A	15: 88,895,607 (GRCm39)	I643N	possibly damaging	Het
Nfib	T	C	4: 82,416,826 (GRCm39)	K70E	probably damaging	Het
Nr3c2	A	C	8: 77,634,958 (GRCm39)	S20R	probably benign	Het
Nr6a1	A	T	2: 38,628,955 (GRCm39)	F356L	probably benign	Het
Oca2	G	A	7: 55,978,533 (GRCm39)	R567H	probably damaging	Het
Or10k2	A	G	8: 84,268,045 (GRCm39)	S91G	probably benign	Het
Or1e35	T	A	11: 73,797,911 (GRCm39)	M136L	possibly damaging	Het
Or1p1	T	C	11: 74,179,637 (GRCm39)	L55P	probably damaging	Het
Or6c88	T	A	10: 129,406,697 (GRCm39)	Y58N	probably damaging	Het
Or8g33	T	C	9: 39,338,254 (GRCm39)	T38A	probably damaging	Het
Pcdhb10	A	G	18: 37,546,009 (GRCm39)	T362A	probably benign	Het
Pip5k1b	A	T	19: 24,374,404 (GRCm39)	V59E	probably damaging	Het
Pkhd1l1	G	A	15: 44,410,905 (GRCm39)		probably null	Het
Prr36	T	C	8: 4,264,370 (GRCm39)		probably benign	Het
Ptger2	A	G	14: 45,239,228 (GRCm39)	T289A	probably benign	Het
Rad18	A	G	6: 112,658,498 (GRCm39)	F136L	probably damaging	Het
Rhbg	T	A	3: 88,153,181 (GRCm39)	S258C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,739 (GRCm39)	I34M	possibly damaging	Het
Senp7	C	A	16: 55,944,162 (GRCm39)	T135K	probably damaging	Het
Slc20a2	A	G	8: 23,035,582 (GRCm39)	I193M	probably damaging	Het
Slc27a1	G	A	8: 72,023,504 (GRCm39)	V47I	probably benign	Het
Slc9a5	G	A	8: 106,094,766 (GRCm39)	V786M	probably damaging	Het
Smyd1	A	G	6: 71,193,875 (GRCm39)	L350P	probably damaging	Het
Ston2	A	T	12: 91,614,681 (GRCm39)	F576I	probably damaging	Het
Sulf2	A	T	2: 165,924,598 (GRCm39)	V496E	probably benign	Het
Tcl1b3	C	A	12: 105,157,481 (GRCm39)	S41Y	probably damaging	Het
Tulp2	A	T	7: 45,169,201 (GRCm39)	N256I	probably damaging	Het
Uspl1	T	A	5: 149,138,668 (GRCm39)	C349S	probably damaging	Het
Vcl	T	C	14: 21,070,604 (GRCm39)	I730T	probably damaging	Het
Vmn1r61	A	T	7: 5,614,060 (GRCm39)	F85I	probably benign	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	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
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'- CGAGACAGAAGGCAAACTCTCTGC -3'
(R):5'- GATGGCAACATGCACCGAACAG -3'

Sequencing Primer
(F):5'- ACTTGCTTAAGACCATAGGGCTG -3'
(R):5'- CCGAACAGCAACAGATGATTG -3'

Posted On

2014-05-23