Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:Zfp318'

334460

Institutional Source

Beutler Lab

Gene Symbol

Zfp318

Ensembl Gene

ENSMUSG00000015597

Gene Name

zinc finger protein 318

Synonyms

2610034E08Rik, TZF, D530032D06Rik

MMRRC Submission

041591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4526 (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 46723284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1762 (H1762Q)

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: H1762Q

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

SMART Domains

Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: H1762Q

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,535 (GRCm39)	R178C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre4	C	A	17: 56,092,016 (GRCm39)	S92*	probably null	Het
Arl13b	T	C	16: 62,632,374 (GRCm39)	D73G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Crebzf	A	C	7: 90,092,968 (GRCm39)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,022,778 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,007,955 (GRCm39)	D2151Y	probably benign	Het
Gli3	A	G	13: 15,888,216 (GRCm39)	K544E	probably damaging	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Lcn9	A	C	2: 25,714,520 (GRCm39)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,477,844 (GRCm39)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,544,373 (GRCm39)		probably null	Het
Ly75	G	A	2: 60,161,117 (GRCm39)	T900M	probably benign	Het
Mapk15	A	T	15: 75,867,104 (GRCm39)	I74F	possibly damaging	Het
Myh10	C	T	11: 68,705,875 (GRCm39)	T2007I	probably benign	Het
Nek1	T	C	8: 61,559,978 (GRCm39)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,960,167 (GRCm39)		probably null	Het
Or4x6	T	C	2: 89,949,016 (GRCm39)	K309E	probably benign	Het
Or5l13	T	C	2: 87,779,753 (GRCm39)	T275A	probably benign	Het
Or8h8	C	T	2: 86,753,339 (GRCm39)	C179Y	possibly damaging	Het
Otogl	G	A	10: 107,722,841 (GRCm39)	P297S	probably damaging	Het
Plekhm1	A	G	11: 103,286,130 (GRCm39)	S102P	probably damaging	Het
Plvap	G	A	8: 71,960,415 (GRCm39)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,474,561 (GRCm39)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,649,335 (GRCm39)	I246T	probably benign	Het
Rims2	A	T	15: 39,301,113 (GRCm39)	K281N	probably damaging	Het
Scamp4	T	C	10: 80,446,891 (GRCm39)	F108S	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sntb2	C	A	8: 107,736,595 (GRCm39)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,359,383 (GRCm39)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,139,128 (GRCm39)	S347G	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,445,145 (GRCm39)	V860A	probably benign	Het
Vmn2r60	A	G	7: 41,844,667 (GRCm39)	T677A	probably damaging	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,649,527 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,935,328 (GRCm39)	Y59H	probably benign	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
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'- AGCTTCCTACAGCCTCTGAC -3'
(R):5'- TAGAATCTTCTATGCTGTTGGCAC -3'

Sequencing Primer
(F):5'- TCCTACAGCCTCTGACAAGATTATAC -3'
(R):5'- GCTGTTGGCACCTTCTTCTTC -3'

Posted On

2015-08-18