Incidental Mutation 'R5894:Rnf214'
ID 457384
Institutional Source Beutler Lab
Gene Symbol Rnf214
Ensembl Gene ENSMUSG00000042790
Gene Name ring finger protein 214
Synonyms D130054N24Rik
MMRRC Submission 043238-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R5894 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 45774723-45818209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45777916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 630 (V630A)
Ref Sequence ENSEMBL: ENSMUSP00000123754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034591] [ENSMUST00000058720] [ENSMUST00000078111] [ENSMUST00000160699] [ENSMUST00000161187] [ENSMUST00000162369] [ENSMUST00000161203] [ENSMUST00000162699] [ENSMUST00000213659]
AlphaFold Q8BFU3
Predicted Effect probably benign
Transcript: ENSMUST00000034591
SMART Domains Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 418 3.1e-46 PFAM
Pfam:TAXi_C 259 417 1.2e-13 PFAM
transmembrane domain 455 477 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058720
AA Change: V630A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: V630A

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: ENSMUST00000078111
SMART Domains Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
Pfam:Asp 74 295 9.5e-34 PFAM
Pfam:TAXi_C 290 383 1.5e-8 PFAM
transmembrane domain 421 443 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159970
Predicted Effect probably damaging
Transcript: ENSMUST00000160699
AA Change: V630A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: V630A

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 possibly damaging
Transcript: ENSMUST00000161187
AA Change: V475A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: V475A

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: ENSMUST00000162369
Predicted Effect probably damaging
Transcript: ENSMUST00000161203
AA Change: V510A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: V510A

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 noncoding transcript
Transcript: ENSMUST00000160868
Predicted Effect probably benign
Transcript: ENSMUST00000162699
Predicted Effect probably benign
Transcript: ENSMUST00000213659
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T A 3: 146,356,680 (GRCm39) E76V probably benign Het
Adcy2 A T 13: 68,773,971 (GRCm39) I1024N probably damaging Het
Agr2 A C 12: 36,045,509 (GRCm39) probably benign Het
Alpk2 T A 18: 65,414,143 (GRCm39) H1991L probably damaging Het
Amotl2 T A 9: 102,602,371 (GRCm39) M448K possibly damaging Het
Ankhd1 T A 18: 36,780,577 (GRCm39) F1876L probably damaging Het
Arl14 T C 3: 69,130,009 (GRCm39) V52A probably benign Het
Atp6v1b2 T A 8: 69,560,218 (GRCm39) probably null Het
Bmal2 A G 6: 146,724,732 (GRCm39) T409A possibly damaging Het
Bpifb4 G A 2: 153,782,852 (GRCm39) R19H possibly damaging Het
Cdh9 T A 15: 16,832,186 (GRCm39) L358I possibly damaging Het
Ces2h T G 8: 105,745,658 (GRCm39) I460M probably benign Het
Cog2 T C 8: 125,272,006 (GRCm39) Y507H probably benign Het
Crlf3 T A 11: 79,948,678 (GRCm39) R256W probably damaging Het
Csdc2 T A 15: 81,832,881 (GRCm39) F96I probably damaging Het
Csk A C 9: 57,535,958 (GRCm39) I264S probably damaging Het
Cyp2c29 G C 19: 39,318,833 (GRCm39) A438P possibly damaging Het
Ddx43 G A 9: 78,324,016 (GRCm39) G449D probably damaging Het
Fbxw18 G T 9: 109,529,235 (GRCm39) A106E possibly damaging Het
Fchsd2 C T 7: 100,840,959 (GRCm39) T156I probably benign Het
Frs2 T A 10: 116,917,011 (GRCm39) probably benign Het
Gm57858 C T 3: 36,074,124 (GRCm39) E342K possibly damaging Het
Grid2ip A T 5: 143,374,666 (GRCm39) T922S probably damaging Het
Grm1 A G 10: 10,955,999 (GRCm39) L95P probably damaging Het
Ift140 T C 17: 25,252,893 (GRCm39) V348A possibly damaging Het
Insr A G 8: 3,224,869 (GRCm39) S200P possibly damaging Het
Ints12 A T 3: 132,804,319 (GRCm39) D102V probably damaging Het
Kank1 A G 19: 25,401,564 (GRCm39) D1057G probably damaging Het
Kng1 T A 16: 22,892,113 (GRCm39) D225E probably benign Het
Lama1 A T 17: 68,086,042 (GRCm39) probably null Het
Lpin2 A G 17: 71,553,929 (GRCm39) D882G probably benign Het
Lrp1b A T 2: 41,388,233 (GRCm39) F464Y probably benign Het
Musk G A 4: 58,373,583 (GRCm39) C836Y probably damaging Het
Mx1 C T 16: 97,255,406 (GRCm39) D216N probably damaging Het
Ndrg3 A T 2: 156,770,698 (GRCm39) N350K probably benign Het
Oas3 G A 5: 120,895,019 (GRCm39) P990L probably damaging Het
Or4c111 T A 2: 88,844,399 (GRCm39) N3I probably damaging Het
Or4c12b T C 2: 89,647,557 (GRCm39) S296P possibly damaging Het
Or6c2 A G 10: 129,362,357 (GRCm39) D87G probably damaging Het
Otoa T C 7: 120,721,092 (GRCm39) L369P probably damaging Het
Plcg2 A G 8: 118,231,088 (GRCm39) T57A probably damaging Het
Prune2 A T 19: 17,098,755 (GRCm39) T1420S possibly damaging Het
Ptpdc1 A G 13: 48,743,798 (GRCm39) F201S probably damaging Het
Rxrb T A 17: 34,254,718 (GRCm39) I181N probably damaging Het
Scrib T C 15: 75,939,581 (GRCm39) N69S probably damaging Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Sgcd A G 11: 47,246,028 (GRCm39) V58A probably damaging Het
Slc13a3 C T 2: 165,266,543 (GRCm39) V374I probably benign Het
Slc22a4 A T 11: 53,888,341 (GRCm39) I229N probably benign Het
Slc44a5 A G 3: 153,962,210 (GRCm39) Y381C probably damaging Het
Sohlh1 A G 2: 25,734,679 (GRCm39) S205P possibly damaging Het
Spata20 T C 11: 94,374,444 (GRCm39) M308V probably damaging Het
Stag3 T G 5: 138,297,100 (GRCm39) I550R probably damaging Het
Tac2 A G 10: 127,561,971 (GRCm39) E25G possibly damaging Het
Tars2 T C 3: 95,654,964 (GRCm39) probably null Het
Tefm G A 11: 80,031,057 (GRCm39) R60C probably damaging Het
Trem3 T C 17: 48,565,483 (GRCm39) V179A probably benign Het
Trim37 G T 11: 87,092,266 (GRCm39) D692Y probably damaging Het
Trpc4ap T C 2: 155,508,133 (GRCm39) T173A probably benign Het
Unc13c C T 9: 73,600,486 (GRCm39) probably null Het
Usp18 A G 6: 121,238,456 (GRCm39) K201R probably benign Het
Usp35 T A 7: 96,962,284 (GRCm39) Y524F probably damaging Het
Usp53 A G 3: 122,752,734 (GRCm39) F208L probably damaging Het
Vmn1r80 A T 7: 11,927,654 (GRCm39) I255F probably damaging Het
Vstm2a A T 11: 16,211,483 (GRCm39) I98F probably benign Het
Wdfy4 T A 14: 32,855,317 (GRCm39) I766F possibly damaging Het
Wdr17 T A 8: 55,149,335 (GRCm39) Y55F probably damaging Het
Xpot T C 10: 121,449,551 (GRCm39) K172R probably damaging Het
Other mutations in Rnf214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Rnf214 APN 9 45,811,084 (GRCm39) missense probably damaging 1.00
IGL02314:Rnf214 APN 9 45,811,105 (GRCm39) missense probably benign 0.00
IGL02604:Rnf214 APN 9 45,780,841 (GRCm39) missense probably damaging 1.00
IGL02739:Rnf214 APN 9 45,780,772 (GRCm39) missense probably benign
Contorted UTSW 9 45,779,344 (GRCm39) nonsense probably null
R0067:Rnf214 UTSW 9 45,778,796 (GRCm39) critical splice donor site probably null
R0067:Rnf214 UTSW 9 45,778,796 (GRCm39) critical splice donor site probably null
R0091:Rnf214 UTSW 9 45,809,791 (GRCm39) critical splice acceptor site probably null
R0375:Rnf214 UTSW 9 45,811,121 (GRCm39) missense probably damaging 0.97
R1027:Rnf214 UTSW 9 45,811,187 (GRCm39) missense probably benign
R1850:Rnf214 UTSW 9 45,780,746 (GRCm39) splice site probably benign
R2424:Rnf214 UTSW 9 45,811,096 (GRCm39) missense probably damaging 0.99
R3751:Rnf214 UTSW 9 45,778,901 (GRCm39) missense probably damaging 1.00
R3772:Rnf214 UTSW 9 45,777,932 (GRCm39) missense possibly damaging 0.83
R4164:Rnf214 UTSW 9 45,783,210 (GRCm39) missense probably damaging 0.99
R4969:Rnf214 UTSW 9 45,807,486 (GRCm39) missense probably damaging 1.00
R5032:Rnf214 UTSW 9 45,811,042 (GRCm39) critical splice donor site probably null
R5647:Rnf214 UTSW 9 45,779,344 (GRCm39) nonsense probably null
R5849:Rnf214 UTSW 9 45,779,386 (GRCm39) missense probably damaging 1.00
R6296:Rnf214 UTSW 9 45,779,119 (GRCm39) missense probably benign 0.05
R6467:Rnf214 UTSW 9 45,778,886 (GRCm39) missense probably damaging 0.97
R6533:Rnf214 UTSW 9 45,811,361 (GRCm39) missense probably benign 0.00
R6621:Rnf214 UTSW 9 45,807,468 (GRCm39) missense probably damaging 1.00
R6801:Rnf214 UTSW 9 45,807,403 (GRCm39) missense probably damaging 1.00
R6940:Rnf214 UTSW 9 45,802,196 (GRCm39) missense probably damaging 0.99
R7398:Rnf214 UTSW 9 45,778,845 (GRCm39) missense possibly damaging 0.85
R8554:Rnf214 UTSW 9 45,778,797 (GRCm39) critical splice donor site probably null
R8710:Rnf214 UTSW 9 45,778,748 (GRCm39) unclassified probably benign
R8962:Rnf214 UTSW 9 45,809,728 (GRCm39) critical splice donor site probably null
R9060:Rnf214 UTSW 9 45,809,772 (GRCm39) utr 3 prime probably benign
R9093:Rnf214 UTSW 9 45,811,054 (GRCm39) missense probably damaging 0.99
R9215:Rnf214 UTSW 9 45,816,129 (GRCm39) missense probably benign 0.12
R9456:Rnf214 UTSW 9 45,779,286 (GRCm39) missense possibly damaging 0.79
R9563:Rnf214 UTSW 9 45,811,141 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CAGATTCTGAGCTCTACTGATGG -3'
(R):5'- ACACGCTGCAAGGACTCTAG -3'

Sequencing Primer
(F):5'- AGCTCTACTGATGGCGAGG -3'
(R):5'- CTCTAGGCAGAATCTAGGTTAGGAC -3'
Posted On 2017-02-15