Incidental Mutation 'R6188:Zfp983'
ID 502343
Institutional Source Beutler Lab
Gene Symbol Zfp983
Ensembl Gene ENSMUSG00000035868
Gene Name zinc finger protein 983
Synonyms 3110052M02Rik
MMRRC Submission 044328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6188 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 21869545-21883882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21877935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 46 (Y46C)
Ref Sequence ENSEMBL: ENSMUSP00000039392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039726]
AlphaFold E9PUT0
Predicted Effect probably damaging
Transcript: ENSMUST00000039726
AA Change: Y46C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039392
Gene: ENSMUSG00000035868
AA Change: Y46C

DomainStartEndE-ValueType
KRAB 13 73 2.42e-22 SMART
ZnF_C2H2 185 207 5.5e-3 SMART
ZnF_C2H2 213 235 5.14e-3 SMART
ZnF_C2H2 241 263 4.54e-4 SMART
ZnF_C2H2 269 291 7.9e-4 SMART
ZnF_C2H2 297 319 2.86e-1 SMART
ZnF_C2H2 325 347 6.88e-4 SMART
ZnF_C2H2 353 375 1.95e-3 SMART
ZnF_C2H2 381 403 1.04e-3 SMART
ZnF_C2H2 409 431 2.79e-4 SMART
ZnF_C2H2 437 459 3.63e-3 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,850 (GRCm39) I88F possibly damaging Het
4930407I10Rik T C 15: 81,943,471 (GRCm39) S28P probably benign Het
a A T 2: 154,889,602 (GRCm39) N56I probably damaging Het
Apoe C A 7: 19,432,305 (GRCm39) probably benign Het
Aspm C A 1: 139,406,977 (GRCm39) R1955S possibly damaging Het
Boc G A 16: 44,319,911 (GRCm39) L358F possibly damaging Het
Cadm2 A T 16: 66,612,195 (GRCm39) probably null Het
Ccdc183 T C 2: 25,499,764 (GRCm39) E384G probably benign Het
Ccl12 A G 11: 81,993,943 (GRCm39) T67A probably damaging Het
Cep120 T C 18: 53,857,529 (GRCm39) D312G probably benign Het
Cmya5 A G 13: 93,229,952 (GRCm39) V1712A possibly damaging Het
Cmya5 A G 13: 93,233,784 (GRCm39) S435P possibly damaging Het
Dmbt1 A T 7: 130,699,361 (GRCm39) N997Y probably damaging Het
Dock2 T A 11: 34,453,396 (GRCm39) I86F probably damaging Het
Duox1 A G 2: 122,150,275 (GRCm39) Q168R probably benign Het
Epb41l4a T A 18: 33,965,718 (GRCm39) I370L probably benign Het
Erc2 T A 14: 28,039,208 (GRCm39) D950E probably damaging Het
Exoc6b A G 6: 84,832,479 (GRCm39) V405A probably damaging Het
F13a1 T C 13: 37,209,752 (GRCm39) D71G probably benign Het
Fam151a A T 4: 106,602,696 (GRCm39) Y205F possibly damaging Het
Fcnb C A 2: 27,969,202 (GRCm39) R165M possibly damaging Het
Fndc3a C T 14: 72,827,401 (GRCm39) V50I probably damaging Het
Gm13276 C T 4: 88,704,096 (GRCm39) Q51* probably null Het
Grik1 T C 16: 87,852,959 (GRCm39) T75A probably benign Het
Grip2 A G 6: 91,740,514 (GRCm39) L1015P probably damaging Het
Hnrnpk A G 13: 58,541,967 (GRCm39) F339L probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Kars1 C T 8: 112,735,113 (GRCm39) probably null Het
Kpna7 G T 5: 144,929,654 (GRCm39) N390K probably damaging Het
Krt36 A T 11: 99,993,246 (GRCm39) S410T probably benign Het
Lingo4 A G 3: 94,310,157 (GRCm39) E365G probably damaging Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Lmbrd1 C A 1: 24,750,626 (GRCm39) N166K probably benign Het
Lypd9 T C 11: 58,337,182 (GRCm39) E97G probably benign Het
Nup155 T C 15: 8,139,059 (GRCm39) S44P probably damaging Het
Or2m12 A G 16: 19,105,307 (GRCm39) M62T probably damaging Het
Or4a72 A T 2: 89,405,538 (GRCm39) C177* probably null Het
Or5a3 A G 19: 12,399,974 (GRCm39) I100M probably benign Het
Pcdhga6 T C 18: 37,841,324 (GRCm39) V348A probably benign Het
Phc3 G A 3: 30,991,198 (GRCm39) Q295* probably null Het
Phyh A G 2: 4,932,301 (GRCm39) E129G probably damaging Het
Polb A G 8: 23,137,463 (GRCm39) S96P probably damaging Het
Ppp1r9a A T 6: 5,158,113 (GRCm39) K1174* probably null Het
Ppp1r9b C T 11: 94,882,662 (GRCm39) R97W probably damaging Het
Pttg1ip T C 10: 77,418,342 (GRCm39) probably null Het
Pygm G A 19: 6,447,967 (GRCm39) probably null Het
Rgs20 GGAGAGAG GGAGAG 1: 5,091,106 (GRCm39) probably null Het
Rlf T C 4: 121,027,963 (GRCm39) H111R probably damaging Het
Rmdn3 A G 2: 118,969,831 (GRCm39) probably null Het
Ror2 T A 13: 53,265,347 (GRCm39) T570S probably damaging Het
Sel1l3 A C 5: 53,313,061 (GRCm39) I542R possibly damaging Het
Serpinb3d A G 1: 107,006,237 (GRCm39) F284L probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A G 15: 96,590,397 (GRCm39) probably null Het
Spata31e2 T A 1: 26,724,784 (GRCm39) Y132F probably damaging Het
Spata31h1 A G 10: 82,121,091 (GRCm39) I3973T probably damaging Het
Tet2 T C 3: 133,186,087 (GRCm39) S1117G probably benign Het
Trav15-1-dv6-1 C T 14: 53,797,414 (GRCm39) A21V probably damaging Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn1r220 A T 13: 23,368,084 (GRCm39) L204H probably damaging Het
Vmn1r3 A T 4: 3,185,017 (GRCm39) S97T probably damaging Het
Zfp599 A G 9: 22,161,286 (GRCm39) F293S probably damaging Het
Other mutations in Zfp983
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Zfp983 APN 17 21,876,528 (GRCm39) critical splice donor site probably null
IGL02492:Zfp983 APN 17 21,876,528 (GRCm39) critical splice donor site probably null
IGL03145:Zfp983 APN 17 21,877,924 (GRCm39) missense probably damaging 0.99
R0257:Zfp983 UTSW 17 21,880,356 (GRCm39) missense probably benign 0.35
R1518:Zfp983 UTSW 17 21,881,269 (GRCm39) missense probably damaging 1.00
R1925:Zfp983 UTSW 17 21,880,933 (GRCm39) missense probably damaging 1.00
R2504:Zfp983 UTSW 17 21,877,883 (GRCm39) missense probably damaging 1.00
R3701:Zfp983 UTSW 17 21,880,455 (GRCm39) missense probably damaging 1.00
R4308:Zfp983 UTSW 17 21,881,124 (GRCm39) missense probably benign 0.05
R5648:Zfp983 UTSW 17 21,877,947 (GRCm39) missense probably damaging 1.00
R6029:Zfp983 UTSW 17 21,881,401 (GRCm39) missense probably benign 0.03
R6662:Zfp983 UTSW 17 21,881,001 (GRCm39) missense probably damaging 1.00
R7313:Zfp983 UTSW 17 21,880,413 (GRCm39) missense probably damaging 0.97
R7361:Zfp983 UTSW 17 21,880,850 (GRCm39) missense probably damaging 1.00
R8710:Zfp983 UTSW 17 21,880,234 (GRCm39) missense probably damaging 0.99
R9153:Zfp983 UTSW 17 21,876,522 (GRCm39) missense probably benign 0.08
R9285:Zfp983 UTSW 17 21,876,520 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GAGGTAGAACATTCATTACAGAGTGTG -3'
(R):5'- TGCATGGCACCTCTAAACTAG -3'

Sequencing Primer
(F):5'- TCATTACAGAGTGTGAGTACATGAG -3'
(R):5'- GCATGGCACCTCTAAACTAGAAAATG -3'
Posted On 2018-02-27