Mutagenetix > Incidental Mutation

Incidental Mutation 'R0350:Zfp318'

29672

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

MMRRC Submission

038557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46694657-46731846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46724124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 2042 (H2042Q)

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: H2042Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: H2042Q

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

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	A	8: 10,037,600 (GRCm39)	Y66N	probably damaging	Het
Apol6	C	T	15: 76,935,147 (GRCm39)	Q139*	probably null	Het
Armh1	C	A	4: 117,072,753 (GRCm39)	E244*	probably null	Het
Cd1d1	A	T	3: 86,904,880 (GRCm39)	H219Q	probably benign	Het
Cdca2	A	G	14: 67,950,568 (GRCm39)	L121P	probably benign	Het
Cdin1	T	C	2: 115,607,411 (GRCm39)	Y255H	possibly damaging	Het
Cog4	T	A	8: 111,580,328 (GRCm39)	L133I	possibly damaging	Het
Csf1	T	C	3: 107,655,922 (GRCm39)	M370V	probably benign	Het
Ddi2	G	A	4: 141,412,834 (GRCm39)	T26M	probably benign	Het
Dhcr7	A	G	7: 143,391,507 (GRCm39)	D32G	probably damaging	Het
Efcab3	T	C	11: 104,581,706 (GRCm39)	V16A	probably benign	Het
Exd1	T	C	2: 119,354,047 (GRCm39)	N337S	possibly damaging	Het
Flii	T	C	11: 60,612,683 (GRCm39)	D227G	probably damaging	Het
Hsf1	A	G	15: 76,384,679 (GRCm39)	T485A	probably benign	Het
Igfn1	G	A	1: 135,884,505 (GRCm39)	R2614*	probably null	Het
Iqch	T	C	9: 63,408,158 (GRCm39)	T630A	probably benign	Het
Itgal	T	A	7: 126,921,253 (GRCm39)	D770E	probably damaging	Het
Mroh1	T	A	15: 76,316,449 (GRCm39)	V759E	probably damaging	Het
Mrps17	A	G	5: 129,795,209 (GRCm39)		probably benign	Het
Mtpap	A	G	18: 4,396,195 (GRCm39)	S496G	possibly damaging	Het
Nkd1	T	A	8: 89,311,844 (GRCm39)	Y39*	probably null	Het
Nmd3	A	G	3: 69,650,907 (GRCm39)	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,022,170 (GRCm39)	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,341,112 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,112,926 (GRCm39)		probably null	Het
Or4c113	T	A	2: 88,885,700 (GRCm39)	K23N	probably benign	Het
Or8b12i	A	T	9: 20,082,032 (GRCm39)	Y278*	probably null	Het
Pnn	T	C	12: 59,113,903 (GRCm39)		probably null	Het
Ppm1j	A	G	3: 104,690,687 (GRCm39)	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,172,442 (GRCm39)	L650Q	probably damaging	Het
Prss37	T	C	6: 40,491,893 (GRCm39)	E229G	probably damaging	Het
Rbm19	T	C	5: 120,266,372 (GRCm39)	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,278,331 (GRCm39)	V372F	probably damaging	Het
Sema6a	G	T	18: 47,403,785 (GRCm39)	D595E	probably benign	Het
Slc35c1	A	G	2: 92,289,377 (GRCm39)	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,232,619 (GRCm39)		probably null	Het
Slco4c1	A	G	1: 96,756,574 (GRCm39)	F583L	probably benign	Het
Sox9	A	G	11: 112,675,702 (GRCm39)	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,564,884 (GRCm39)	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,861,321 (GRCm39)		probably null	Het
Uba6	A	C	5: 86,292,237 (GRCm39)	V402G	possibly damaging	Het
Usp43	T	C	11: 67,767,324 (GRCm39)	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,463,403 (GRCm39)	D291G	probably damaging	Het
Xpr1	A	T	1: 155,206,214 (GRCm39)	F156Y	probably damaging	Het
Yju2b	C	T	8: 84,987,277 (GRCm39)	E99K	probably damaging	Het
Zfp937	T	A	2: 150,081,222 (GRCm39)	D417E	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
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
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'- GCCTGAAGGACTGACTGTG -3'

Posted On

2013-04-24