Incidental Mutation 'R5157:Zfp978'
ID 396772
Institutional Source Beutler Lab
Gene Symbol Zfp978
Ensembl Gene ENSMUSG00000078497
Gene Name zinc finger protein 978
Synonyms Gm13145
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5157 (G1)
Quality Score 88
Status Validated
Chromosome 4
Chromosomal Location 147445760-147475461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 147475437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 328 (L328H)
Ref Sequence ENSEMBL: ENSMUSP00000114248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133078] [ENSMUST00000154154]
AlphaFold A2A7I1
Predicted Effect probably benign
Transcript: ENSMUST00000133078
SMART Domains Protein: ENSMUSP00000115135
Gene: ENSMUSG00000078497

DomainStartEndE-ValueType
KRAB 28 88 5.93e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154154
AA Change: L328H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114248
Gene: ENSMUSG00000078497
AA Change: L328H

DomainStartEndE-ValueType
KRAB 28 88 5.93e-17 SMART
low complexity region 104 116 N/A INTRINSIC
internal_repeat_1 129 223 3.63e-6 PROSPERO
ZnF_C2H2 257 279 7.9e-4 SMART
ZnF_C2H2 285 307 3.49e-5 SMART
ZnF_C2H2 313 335 1.03e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181752
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Other mutations in Zfp978
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zfp978 APN 4 147,475,317 (GRCm39) missense probably benign
FR4449:Zfp978 UTSW 4 147,475,401 (GRCm39) missense probably benign 0.00
R6806:Zfp978 UTSW 4 147,475,284 (GRCm39) missense probably benign 0.44
R7778:Zfp978 UTSW 4 147,469,760 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCTTTACTCAGAGTGACAATCTTCAAA -3'
(R):5'- TGTCAGTAAAGCATTTGTCGCA -3'

Sequencing Primer
(F):5'- GCTTTACTGACAAATGCACTCTGAG -3'
(R):5'- GTCAGTAAAGCATTTGTCGCATTCAC -3'
Posted On 2016-06-21