Incidental Mutation 'R1981:Zfp930'
ID 222323
Institutional Source Beutler Lab
Gene Symbol Zfp930
Ensembl Gene ENSMUSG00000059897
Gene Name zinc finger protein 930
Synonyms zinc finger protein, D10627
MMRRC Submission 039993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1981 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 69661690-69683188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69680824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 172 (L172H)
Ref Sequence ENSEMBL: ENSMUSP00000105845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110216] [ENSMUST00000212312] [ENSMUST00000212681]
AlphaFold A0A1D5RM15
Predicted Effect probably damaging
Transcript: ENSMUST00000110216
AA Change: L172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105845
Gene: ENSMUSG00000059897
AA Change: L172H

DomainStartEndE-ValueType
KRAB 3 62 1.39e-13 SMART
ZnF_C2H2 73 95 1.07e0 SMART
ZnF_C2H2 101 123 6.88e-4 SMART
ZnF_C2H2 129 151 1.98e-4 SMART
ZnF_C2H2 157 179 2.63e0 SMART
ZnF_C2H2 185 207 1.3e-4 SMART
ZnF_C2H2 213 235 1.22e-4 SMART
ZnF_C2H2 241 263 7.49e-5 SMART
ZnF_C2H2 269 291 1.13e-4 SMART
ZnF_C2H2 297 319 1.84e-4 SMART
ZnF_C2H2 325 347 2.27e-4 SMART
ZnF_C2H2 353 375 1.22e-4 SMART
ZnF_C2H2 381 403 5.29e-5 SMART
ZnF_C2H2 409 431 1.72e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212090
Predicted Effect probably benign
Transcript: ENSMUST00000212312
Predicted Effect probably damaging
Transcript: ENSMUST00000212681
AA Change: L173H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atad1 G T 19: 32,673,210 (GRCm39) D224E probably benign Het
Atp1a3 T G 7: 24,700,400 (GRCm39) E33A probably benign Het
Baz2b A G 2: 59,754,024 (GRCm39) F1100L possibly damaging Het
Car7 C T 8: 105,275,009 (GRCm39) probably benign Het
Casp8 C A 1: 58,868,121 (GRCm39) probably null Het
Cdh23 A T 10: 60,214,530 (GRCm39) L1495H probably damaging Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Col16a1 C G 4: 129,959,236 (GRCm39) P346A unknown Het
Cyp2c29 A G 19: 39,296,216 (GRCm39) probably null Het
Cyp3a13 T C 5: 137,910,118 (GRCm39) S139G probably damaging Het
Dapk2 A G 9: 66,176,180 (GRCm39) H327R probably benign Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dnah2 A G 11: 69,365,151 (GRCm39) Y1944H probably damaging Het
Dnai2 T A 11: 114,623,755 (GRCm39) V6E probably damaging Het
Eipr1 T C 12: 28,913,024 (GRCm39) Y242H probably damaging Het
Fam149a T G 8: 45,834,778 (GRCm39) D7A probably damaging Het
Fam217a T A 13: 35,100,737 (GRCm39) D140V probably benign Het
Fat4 G A 3: 39,045,813 (GRCm39) C3944Y probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Gcsam A T 16: 45,440,337 (GRCm39) T127S probably damaging Het
Git2 C T 5: 114,887,620 (GRCm39) probably benign Het
Gm1527 T C 3: 28,969,984 (GRCm39) probably null Het
Gtf3c1 A G 7: 125,243,444 (GRCm39) L1720P possibly damaging Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hat1 A G 2: 71,220,321 (GRCm39) T28A probably benign Het
Igf2r G A 17: 12,952,790 (GRCm39) Q219* probably null Het
Impdh1 T A 6: 29,206,450 (GRCm39) D129V possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Ltbp3 A G 19: 5,808,107 (GRCm39) Q1250R probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mast2 T C 4: 116,172,037 (GRCm39) Y569C probably damaging Het
Mcoln3 A T 3: 145,846,345 (GRCm39) K552* probably null Het
Mctp2 T C 7: 71,814,446 (GRCm39) Q601R probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Myo19 A T 11: 84,782,996 (GRCm39) Q170L possibly damaging Het
Myo1h T C 5: 114,491,898 (GRCm39) F676S probably damaging Het
Myo9a A G 9: 59,801,429 (GRCm39) T1876A probably benign Het
Nav3 G T 10: 109,554,951 (GRCm39) probably benign Het
Ndor1 T C 2: 25,145,236 (GRCm39) Y43C probably damaging Het
Nlrp1a A G 11: 70,989,764 (GRCm39) V1102A probably damaging Het
Nmnat3 T C 9: 98,292,352 (GRCm39) I199T possibly damaging Het
Nsun7 T C 5: 66,418,557 (GRCm39) S96P probably damaging Het
Ntng1 A G 3: 109,842,326 (GRCm39) V149A possibly damaging Het
Oas3 T C 5: 120,899,900 (GRCm39) probably benign Het
Or10v9 T G 19: 11,832,371 (GRCm39) Q315H possibly damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Or5bw2 A G 7: 6,573,557 (GRCm39) D189G probably benign Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Or8b3 T C 9: 38,315,031 (GRCm39) L287P probably damaging Het
Or8k53 A T 2: 86,177,486 (GRCm39) I208N possibly damaging Het
Pax2 G A 19: 44,806,904 (GRCm39) D301N probably damaging Het
Pcsk4 T A 10: 80,161,613 (GRCm39) E176V probably damaging Het
Pkhd1 G A 1: 20,187,284 (GRCm39) P3675S probably benign Het
Plekho2 A T 9: 65,465,974 (GRCm39) L138Q probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr11 T A 11: 86,994,116 (GRCm39) D100V probably damaging Het
Qars1 A G 9: 108,392,227 (GRCm39) N136D probably damaging Het
Rbm15b A G 9: 106,758,822 (GRCm39) probably benign Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rsrc1 A G 3: 67,257,338 (GRCm39) D250G probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Scn2a C A 2: 65,520,514 (GRCm39) N503K probably damaging Het
Sh2d6 G A 6: 72,494,527 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,157 (GRCm39) T475A probably benign Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Tbx20 T A 9: 24,682,209 (GRCm39) K48N possibly damaging Het
Tead1 C A 7: 112,490,952 (GRCm39) D231E probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tjp1 A T 7: 64,962,603 (GRCm39) F1111L probably damaging Het
Tlr11 T A 14: 50,599,445 (GRCm39) I477K possibly damaging Het
Ttc13 A G 8: 125,440,926 (GRCm39) probably null Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Usp15 T A 10: 122,960,946 (GRCm39) probably benign Het
Usp18 A G 6: 121,229,476 (GRCm39) K32E probably benign Het
Vmn1r12 A T 6: 57,136,646 (GRCm39) M248L probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp976 G A 7: 42,263,046 (GRCm39) H264Y probably damaging Het
Other mutations in Zfp930
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Zfp930 APN 8 69,680,634 (GRCm39) missense probably damaging 1.00
Bodyguard UTSW 8 69,681,337 (GRCm39) missense probably damaging 1.00
R0389:Zfp930 UTSW 8 69,680,948 (GRCm39) nonsense probably null
R1275:Zfp930 UTSW 8 69,680,631 (GRCm39) missense possibly damaging 0.73
R1322:Zfp930 UTSW 8 69,680,820 (GRCm39) missense probably benign 0.02
R1802:Zfp930 UTSW 8 69,679,046 (GRCm39) missense possibly damaging 0.50
R1917:Zfp930 UTSW 8 69,681,357 (GRCm39) missense probably benign 0.02
R1918:Zfp930 UTSW 8 69,681,357 (GRCm39) missense probably benign 0.02
R4492:Zfp930 UTSW 8 69,680,898 (GRCm39) nonsense probably null
R4530:Zfp930 UTSW 8 69,681,483 (GRCm39) nonsense probably null
R4769:Zfp930 UTSW 8 69,679,344 (GRCm39) missense probably benign 0.09
R4906:Zfp930 UTSW 8 69,681,597 (GRCm39) missense probably benign 0.11
R5314:Zfp930 UTSW 8 69,679,373 (GRCm39) missense probably benign 0.27
R5708:Zfp930 UTSW 8 69,679,113 (GRCm39) missense probably benign 0.08
R6004:Zfp930 UTSW 8 69,680,556 (GRCm39) missense probably benign
R6385:Zfp930 UTSW 8 69,681,283 (GRCm39) missense probably damaging 1.00
R7095:Zfp930 UTSW 8 69,681,193 (GRCm39) missense probably benign
R7619:Zfp930 UTSW 8 69,661,810 (GRCm39) start codon destroyed probably null 0.95
R7641:Zfp930 UTSW 8 69,681,337 (GRCm39) missense probably damaging 1.00
R7674:Zfp930 UTSW 8 69,681,337 (GRCm39) missense probably damaging 1.00
R8300:Zfp930 UTSW 8 69,680,998 (GRCm39) missense probably benign 0.00
R8905:Zfp930 UTSW 8 69,681,351 (GRCm39) missense possibly damaging 0.78
R8960:Zfp930 UTSW 8 69,680,541 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACGTCACATTGGTCTTCA -3'
(R):5'- ACTATGTTGTGAAAAGGCTTTACCACA -3'

Sequencing Primer
(F):5'- ACGTCACATTGGTCTTCAAAGGC -3'
(R):5'- TACCACACTCATTACATTCATAGGG -3'
Posted On 2014-08-25