Incidental Mutation 'R8057:Zfp318'
ID 619489
Institutional Source Beutler Lab
Gene Symbol Zfp318
Ensembl Gene ENSMUSG00000015597
Gene Name zinc finger protein 318
Synonyms 2610034E08Rik, TZF, D530032D06Rik
MMRRC Submission 067494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8057 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46694657-46731846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46710692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 805 (V805D)
Ref Sequence ENSEMBL: ENSMUSP00000109109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113481] [ENSMUST00000138127] [ENSMUST00000152472]
AlphaFold Q99PP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000113481
AA Change: V805D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: V805D

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 possibly damaging
Transcript: ENSMUST00000138127
AA Change: V805D

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597
AA Change: V805D

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,826 (GRCm39) L32P probably damaging Het
4930563M21Rik T C 9: 55,916,564 (GRCm39) T38A unknown Het
Abcb6 T C 1: 75,151,002 (GRCm39) N563D probably damaging Het
Ak4 T C 4: 101,317,850 (GRCm39) F140S probably damaging Het
Arhgap27 T A 11: 103,229,519 (GRCm39) R296S probably damaging Het
Atxn7l1 A C 12: 33,376,001 (GRCm39) K98N probably damaging Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Camta1 T C 4: 151,228,489 (GRCm39) D781G probably damaging Het
Capn7 A G 14: 31,092,936 (GRCm39) D800G probably benign Het
Carmil2 G A 8: 106,419,008 (GRCm39) V716I probably benign Het
Cdk5 C A 5: 24,625,782 (GRCm39) D144Y probably damaging Het
Cep85 T C 4: 133,880,925 (GRCm39) probably benign Het
Chd5 T A 4: 152,450,829 (GRCm39) L651Q probably damaging Het
Cimap1d T A 10: 79,475,835 (GRCm39) H243L probably damaging Het
Clcn7 C T 17: 25,368,233 (GRCm39) Q261* probably null Het
Cntnap2 T A 6: 46,324,079 (GRCm39) F576Y probably damaging Het
Col11a1 G A 3: 113,925,263 (GRCm39) G815D unknown Het
Col4a4 T A 1: 82,501,591 (GRCm39) R387S unknown Het
Cse1l T A 2: 166,781,845 (GRCm39) V663D probably damaging Het
Csf2rb2 G T 15: 78,169,206 (GRCm39) Q650K probably damaging Het
Ctnnd2 A G 15: 30,847,497 (GRCm39) D696G possibly damaging Het
Dnah7c T A 1: 46,728,112 (GRCm39) C2937S possibly damaging Het
Epha10 A T 4: 124,796,476 (GRCm39) Q395L Het
Fam167a T A 14: 63,689,769 (GRCm39) V22E probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabra4 A G 5: 71,781,295 (GRCm39) I372T probably benign Het
Gpt A G 15: 76,580,972 (GRCm39) probably benign Het
H2-K2 C T 17: 34,215,833 (GRCm39) G336D possibly damaging Het
Hapstr1 C T 16: 8,648,232 (GRCm39) probably benign Het
Hoxd8 T C 2: 74,535,070 (GRCm39) probably null Het
Ilrun C T 17: 27,986,863 (GRCm39) A288T unknown Het
Kdm5d T G Y: 927,355 (GRCm39) D658E possibly damaging Het
Krt25 G A 11: 99,208,169 (GRCm39) T353M probably benign Het
Lonp2 T C 8: 87,440,717 (GRCm39) L778P probably damaging Het
Lrrc66 G A 5: 73,764,875 (GRCm39) Q723* probably null Het
Mak T A 13: 41,202,813 (GRCm39) I212F probably damaging Het
Mastl T A 2: 23,023,566 (GRCm39) R386W possibly damaging Het
Mis18bp1 A G 12: 65,195,673 (GRCm39) I697T possibly damaging Het
Nek5 G A 8: 22,578,922 (GRCm39) T415I probably benign Het
Neu3 T A 7: 99,463,435 (GRCm39) N96I probably benign Het
Nxph2 T C 2: 23,290,107 (GRCm39) V153A possibly damaging Het
Or10a3 A T 7: 108,480,571 (GRCm39) F81I probably damaging Het
Or5b102 G A 19: 13,040,638 (GRCm39) probably benign Het
Or8b4 A G 9: 37,830,460 (GRCm39) D169G probably benign Het
Otogl T C 10: 107,644,476 (GRCm39) T1257A probably benign Het
Pcdh10 G A 3: 45,333,694 (GRCm39) V3M probably benign Het
Pitpnm1 G A 19: 4,162,145 (GRCm39) R1017Q probably null Het
Plcb3 A C 19: 6,932,463 (GRCm39) H1065Q probably benign Het
Plcb3 A T 19: 6,936,267 (GRCm39) M752K probably damaging Het
Plch1 T C 3: 63,605,557 (GRCm39) E1449G probably benign Het
Plekha4 T A 7: 45,198,695 (GRCm39) C573S probably benign Het
Plin2 T C 4: 86,575,638 (GRCm39) I304V possibly damaging Het
Pnp2 G A 14: 51,201,838 (GRCm39) V275I probably benign Het
Polr1a G A 6: 71,908,644 (GRCm39) A490T possibly damaging Het
Ppp1r12b A G 1: 134,883,354 (GRCm39) F56S probably damaging Het
Ptk2 GA G 15: 73,170,048 (GRCm39) probably null Het
Rb1cc1 C A 1: 6,315,443 (GRCm39) R473S probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rdx T C 9: 51,976,946 (GRCm39) V65A probably damaging Het
Rpl27rt T C 18: 34,870,582 (GRCm39) F39L probably damaging Het
Rps6ka5 A G 12: 100,540,055 (GRCm39) probably null Het
Samd5 C T 10: 9,550,641 (GRCm39) V23M probably damaging Het
Scn9a T G 2: 66,345,774 (GRCm39) R1117S probably benign Het
Scrn1 T A 6: 54,497,758 (GRCm39) I278L probably benign Het
Sec31b G T 19: 44,507,804 (GRCm39) P747T probably damaging Het
Sipa1l2 A T 8: 126,195,269 (GRCm39) V823E probably damaging Het
Slc2a13 T C 15: 91,400,619 (GRCm39) N201S probably damaging Het
Slc30a3 C A 5: 31,247,395 (GRCm39) probably benign Het
Snx31 C A 15: 36,523,606 (GRCm39) V359F probably damaging Het
Sstr2 A G 11: 113,515,099 (GRCm39) E6G probably benign Het
Stc2 C A 11: 31,317,806 (GRCm39) E72* probably null Het
Tead1 C T 7: 112,358,721 (GRCm39) P11L probably benign Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Tmem63c A T 12: 87,118,972 (GRCm39) K301* probably null Het
Tns3 G C 11: 8,442,773 (GRCm39) A530G probably benign Het
Trat1 T C 16: 48,562,600 (GRCm39) D70G probably damaging Het
Trex1 T A 9: 108,887,397 (GRCm39) E198V probably damaging Het
Ttn T G 2: 76,570,072 (GRCm39) R26940S probably damaging Het
Uba2 T C 7: 33,867,835 (GRCm39) K34R possibly damaging Het
Vps13d A C 4: 144,701,753 (GRCm39) M4376R Het
Zfp157 C A 5: 138,454,336 (GRCm39) T178K 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
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
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'- AGTCTGACCATCCAGTGTGC -3'
(R):5'- TTGGGCTTTGCAGGAGTCAC -3'

Sequencing Primer
(F):5'- TGCCATGTTTCAGGACCAGAG -3'
(R):5'- CTTTGCAGGAGTCACAGTAGGGATC -3'
Posted On 2020-01-23