Incidental Mutation 'R2122:Zfp318'
ID 229618
Institutional Source Beutler Lab
Gene Symbol Zfp318
Ensembl Gene ENSMUSG00000015597
Gene Name zinc finger protein 318
Synonyms 2610034E08Rik, TZF, D530032D06Rik
MMRRC Submission 040126-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2122 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46694657-46731846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46724297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2100 (D2100G)
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: D2100G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109109
Gene: ENSMUSG00000015597
AA Change: D2100G

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 noncoding transcript
Transcript: ENSMUST00000123733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136017
Predicted Effect probably benign
Transcript: ENSMUST00000138127
SMART Domains Protein: ENSMUSP00000116544
Gene: ENSMUSG00000015597

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,119,184 (GRCm39) G975V probably damaging Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actl10 G A 2: 154,394,153 (GRCm39) R35H probably damaging Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Arhgef7 A T 8: 11,778,256 (GRCm39) N2I possibly damaging Het
Blvra T G 2: 126,928,817 (GRCm39) S102A probably damaging Het
Btn1a1 A G 13: 23,645,691 (GRCm39) L226P probably damaging Het
C2cd4d G T 3: 94,270,925 (GRCm39) E64* probably null Het
Ccna2 A G 3: 36,622,875 (GRCm39) V209A probably damaging Het
Cd55 T A 1: 130,387,354 (GRCm39) D148V possibly damaging Het
Cdh2 G A 18: 16,907,600 (GRCm39) P46L probably benign Het
Cldn11 A G 3: 31,217,300 (GRCm39) Y156C probably damaging Het
Cmtm2a T C 8: 105,019,655 (GRCm39) R12G possibly damaging Het
Cog2 T C 8: 125,255,724 (GRCm39) S104P possibly damaging Het
Col4a3 T G 1: 82,632,678 (GRCm39) F184V unknown Het
Col4a4 T A 1: 82,434,592 (GRCm39) D1406V unknown Het
Col6a1 T C 10: 76,557,332 (GRCm39) T207A probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Eif2ak4 T A 2: 118,286,274 (GRCm39) V1063E probably damaging Het
Enpp2 A T 15: 54,761,188 (GRCm39) Y44* probably null Het
Ep400 A T 5: 110,856,716 (GRCm39) probably benign Het
Exoc6b A G 6: 84,598,464 (GRCm39) M779T probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Fscn3 A G 6: 28,430,388 (GRCm39) D186G probably benign Het
Gm5773 G A 3: 93,680,624 (GRCm39) G99R possibly damaging Het
Grk1 A T 8: 13,455,221 (GRCm39) Y35F probably benign Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Hfm1 A G 5: 107,044,121 (GRCm39) S567P probably damaging Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Krtap5-5 A T 7: 141,783,240 (GRCm39) C137S unknown Het
Lrp2 T C 2: 69,314,051 (GRCm39) T2227A probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Map1a T A 2: 121,129,927 (GRCm39) Y248N probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mfsd4b1 T C 10: 39,878,647 (GRCm39) K417E possibly damaging Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Myh11 T C 16: 14,035,868 (GRCm39) E1027G probably damaging Het
Nudt6 A C 3: 37,466,554 (GRCm39) F80L probably benign Het
Nxph1 A G 6: 9,247,791 (GRCm39) K254R probably damaging Het
Obsl1 C T 1: 75,470,527 (GRCm39) R1043H probably benign Het
Or10a4 A T 7: 106,697,316 (GRCm39) I215F probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Phldb2 T A 16: 45,583,304 (GRCm39) I1065F probably damaging Het
Ppp1r3a A T 6: 14,721,874 (GRCm39) N317K possibly damaging Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reg3a T C 6: 78,358,119 (GRCm39) C17R possibly damaging Het
Ripor2 A G 13: 24,897,701 (GRCm39) S800G probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rnf31 A G 14: 55,833,654 (GRCm39) D554G probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sacs A T 14: 61,449,765 (GRCm39) Q3937L probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc20a1 T G 2: 129,041,739 (GRCm39) I34S possibly damaging Het
Slc25a30 A G 14: 76,007,658 (GRCm39) S116P possibly damaging Het
Speer4c1 T A 5: 15,919,115 (GRCm39) D29V possibly damaging Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Susd3 A G 13: 49,384,626 (GRCm39) Y254H probably damaging Het
Tanc2 T C 11: 105,786,775 (GRCm39) L858P probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tfpt C T 7: 3,631,930 (GRCm39) R60Q probably damaging Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Tnfsf9 A T 17: 57,414,316 (GRCm39) probably null Het
Ube3c T C 5: 29,824,604 (GRCm39) I543T probably benign Het
Ugt1a2 C A 1: 88,128,735 (GRCm39) S126Y possibly damaging Het
Vmn1r180 T A 7: 23,652,566 (GRCm39) L243Q probably damaging Het
Vmn2r15 A C 5: 109,434,322 (GRCm39) V794G probably damaging Het
Vmn2r24 A G 6: 123,792,353 (GRCm39) D560G possibly damaging Het
Wdr11 G A 7: 129,233,490 (GRCm39) C1028Y probably damaging Het
Zfyve16 A T 13: 92,655,991 (GRCm39) Y789* probably null 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
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'- AACTTTGAAACAGAGGGTGCAC -3'
(R):5'- CAGACACACTCAGAATTTCTGGAG -3'

Sequencing Primer
(F):5'- GAGGGTGCACATAGCTCATCTAATTC -3'
(R):5'- ACACTCAGAATTTCTGGAGGTGGTG -3'
Posted On 2014-09-17