Incidental Mutation 'R0206:Zfp318'
ID 35487
Institutional Source Beutler Lab
Gene Symbol Zfp318
Ensembl Gene ENSMUSG00000015597
Gene Name zinc finger protein 318
Synonyms 2610034E08Rik, TZF, D530032D06Rik
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0206 (G1)
Quality Score 195
Status Validated
Chromosome 17
Chromosomal Location 46694657-46731846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46709945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 556 (R556L)
Ref Sequence ENSEMBL: ENSMUSP00000109109 (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: R556L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: R556L

DomainStartEndE-ValueType
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: R556L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597
AA Change: R556L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 3 30 N/A INTRINSIC
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 99% (83/84)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Acsl5 A G 19: 55,269,001 (GRCm39) K221E probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Adgrb2 T C 4: 129,886,352 (GRCm39) L164P probably damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Btbd8 A G 5: 107,652,906 (GRCm39) T304A probably benign Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdca3 C T 6: 124,809,514 (GRCm39) probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Csgalnact2 T G 6: 118,091,347 (GRCm39) Q197P probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Ddt A G 10: 75,608,719 (GRCm39) M1T probably null Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gabra6 C T 11: 42,207,906 (GRCm39) W188* probably null Het
Gnptab A T 10: 88,275,372 (GRCm39) H1111L probably damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Inhca A G 9: 103,159,861 (GRCm39) C5R probably damaging Het
Inpp5k T C 11: 75,521,969 (GRCm39) I15T probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Kctd8 A T 5: 69,498,508 (GRCm39) V46E probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mvk C T 5: 114,597,035 (GRCm39) T334M probably damaging Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Pomgnt1 T C 4: 116,015,757 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Rlig1 T A 10: 100,422,056 (GRCm39) K69* probably null Het
Rmdn2 T A 17: 79,957,716 (GRCm39) probably benign Het
Ryr2 A G 13: 11,691,137 (GRCm39) probably benign Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Slc1a3 A G 15: 8,738,040 (GRCm39) probably benign Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Snx33 G A 9: 56,833,508 (GRCm39) S187L probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tinag A G 9: 76,907,134 (GRCm39) I367T probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ube4b T C 4: 149,483,094 (GRCm39) H58R probably benign Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Usp28 A G 9: 48,939,569 (GRCm39) Y275C probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Vps13c A G 9: 67,846,444 (GRCm39) probably benign Het
Vwf T C 6: 125,614,419 (GRCm39) F1100S probably damaging Het
Zkscan1 T A 5: 138,099,448 (GRCm39) C391S probably damaging Het
Other mutations in Zfp318
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCAGAGTAACCTATACCAGTGGGGC -3'
(R):5'- TGAAAAGTGTCGGTCACCAGACAAG -3'

Sequencing Primer
(F):5'- CCCTCCGTGAGATACCTAAAG -3'
(R):5'- AGCCCTATGGTCTTAAGCAAG -3'
Posted On 2013-05-09