Incidental Mutation 'IGL01662:Rnf214'
ID103186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf214
Ensembl Gene ENSMUSG00000042790
Gene Namering finger protein 214
SynonymsD130054N24Rik
Accession Numbers

Ncbi RefSeq: NM_178709.4; MGI:2444451

Is this an essential gene? Probably essential (E-score: 0.772) question?
Stock #IGL01662
Quality Score
Status
Chromosome9
Chromosomal Location45863425-45906911 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45899786 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 193 (D193G)
Ref Sequence ENSEMBL: ENSMUSP00000149889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000160811] [ENSMUST00000161187] [ENSMUST00000161203] [ENSMUST00000162369] [ENSMUST00000162699] [ENSMUST00000213659]
Predicted Effect probably damaging
Transcript: ENSMUST00000058720
AA Change: D193G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: D193G

DomainStartEndE-ValueType
low complexity region 187 196 N/A INTRINSIC
SCOP:d1eq1a_ 235 382 3e-5 SMART
low complexity region 428 444 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
low complexity region 522 539 N/A INTRINSIC
RING 620 664 3.42e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160469
Predicted Effect probably damaging
Transcript: ENSMUST00000160699
AA Change: D193G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: D193G

DomainStartEndE-ValueType
low complexity region 187 196 N/A INTRINSIC
SCOP:d1eq1a_ 235 382 3e-5 SMART
low complexity region 428 444 N/A INTRINSIC
low complexity region 493 504 N/A INTRINSIC
low complexity region 522 539 N/A INTRINSIC
RING 620 664 3.42e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160811
Predicted Effect probably benign
Transcript: ENSMUST00000161187
SMART Domains Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790

DomainStartEndE-ValueType
coiled coil region 65 224 N/A INTRINSIC
low complexity region 273 289 N/A INTRINSIC
low complexity region 338 349 N/A INTRINSIC
low complexity region 367 384 N/A INTRINSIC
RING 465 509 3.42e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161203
SMART Domains Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790

DomainStartEndE-ValueType
SCOP:d1eq1a_ 80 227 2e-5 SMART
low complexity region 273 289 N/A INTRINSIC
low complexity region 338 349 N/A INTRINSIC
low complexity region 367 384 N/A INTRINSIC
RING 500 544 3.42e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162369
AA Change: D193G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000162699
Predicted Effect probably benign
Transcript: ENSMUST00000213659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215005
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(12) : Targeted(3) Gene trapped(9)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,538,288 I402F probably damaging Het
Acvr2b T C 9: 119,432,504 Y388H probably damaging Het
Adh1 G A 3: 138,282,751 D162N possibly damaging Het
C6 G T 15: 4,792,754 R585I probably damaging Het
Ccdc169 T A 3: 55,163,311 probably null Het
Cdh13 T A 8: 118,675,177 M106K probably damaging Het
Cep78 C T 19: 15,960,995 E530K probably damaging Het
Cyfip1 T A 7: 55,896,739 L533Q probably damaging Het
Etl4 T C 2: 20,806,649 V1181A probably benign Het
Fam105a C T 15: 27,658,065 D290N probably damaging Het
Fam122a A G 19: 24,476,584 V258A probably benign Het
Galnt7 T G 8: 57,531,735 probably benign Het
Gm11595 G A 11: 99,772,672 R61C unknown Het
Gucy1a1 T A 3: 82,109,253 I143F possibly damaging Het
Hmcn1 T C 1: 150,737,299 N1410D possibly damaging Het
Ltbp2 G A 12: 84,809,246 T741I probably benign Het
Mdc1 T C 17: 35,852,505 S982P probably benign Het
Mfsd4b2 A G 10: 39,922,197 probably benign Het
Mrgprb5 T G 7: 48,168,424 I188L probably benign Het
Naip6 T A 13: 100,300,354 S554C probably damaging Het
Nav2 A G 7: 49,571,209 N1715D probably damaging Het
Nav3 A T 10: 109,769,258 S985T possibly damaging Het
Nme7 A G 1: 164,328,297 Q22R probably benign Het
Olfr556 T C 7: 102,670,720 W267R probably damaging Het
Ppp1r9a A G 6: 5,115,322 E815G probably damaging Het
Ppp2r2c T A 5: 36,926,400 I95N probably damaging Het
Ppp4r4 G A 12: 103,602,966 E717K possibly damaging Het
Prdm2 A G 4: 143,133,568 S1051P possibly damaging Het
Sirpb1b G T 3: 15,543,184 T167K probably damaging Het
Slc16a3 C A 11: 120,956,706 S240* probably null Het
Snx14 T A 9: 88,385,838 probably benign Het
Sorbs2 A G 8: 45,803,829 probably benign Het
Stk-ps2 A T 1: 46,029,362 noncoding transcript Het
Taar7b A T 10: 23,999,976 D13V probably benign Het
Trp53bp1 T C 2: 121,236,025 E740G probably damaging Het
Unc79 C T 12: 103,149,020 A2054V possibly damaging Het
Zfp106 A G 2: 120,523,553 V211A probably benign Het
Zfp112 A G 7: 24,125,954 H449R probably benign Het
Other mutations in Rnf214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Rnf214 APN 9 45899807 missense probably benign 0.00
IGL02604:Rnf214 APN 9 45869543 missense probably damaging 1.00
IGL02739:Rnf214 APN 9 45869474 missense probably benign
Contorted UTSW 9 45868046 nonsense probably null
R0067:Rnf214 UTSW 9 45867498 critical splice donor site probably null
R0067:Rnf214 UTSW 9 45867498 critical splice donor site probably null
R0091:Rnf214 UTSW 9 45898493 critical splice acceptor site probably null
R0375:Rnf214 UTSW 9 45899823 missense probably damaging 0.97
R1027:Rnf214 UTSW 9 45899889 missense probably benign
R1850:Rnf214 UTSW 9 45869448 splice site probably benign
R2424:Rnf214 UTSW 9 45899798 missense probably damaging 0.99
R3751:Rnf214 UTSW 9 45867603 missense probably damaging 1.00
R3772:Rnf214 UTSW 9 45866634 missense possibly damaging 0.83
R4164:Rnf214 UTSW 9 45871912 missense probably damaging 0.99
R4969:Rnf214 UTSW 9 45896188 missense probably damaging 1.00
R5032:Rnf214 UTSW 9 45899744 critical splice donor site probably null
R5647:Rnf214 UTSW 9 45868046 nonsense probably null
R5849:Rnf214 UTSW 9 45868088 missense probably damaging 1.00
R5894:Rnf214 UTSW 9 45866618 missense probably damaging 1.00
R6296:Rnf214 UTSW 9 45867821 missense probably benign 0.05
R6467:Rnf214 UTSW 9 45867588 missense probably damaging 0.97
R6533:Rnf214 UTSW 9 45900063 missense probably benign 0.00
R6621:Rnf214 UTSW 9 45896170 missense probably damaging 1.00
R6801:Rnf214 UTSW 9 45896105 missense probably damaging 1.00
R6940:Rnf214 UTSW 9 45890898 missense probably damaging 0.99
R7398:Rnf214 UTSW 9 45867547 missense possibly damaging 0.85
Posted On2014-01-21