Incidental Mutation 'IGL01934:Rnf44'
ID180559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf44
Ensembl Gene ENSMUSG00000034928
Gene Namering finger protein 44
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01934
Quality Score
Status
Chromosome13
Chromosomal Location54679399-54693907 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54681950 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 407 (V407A)
Ref Sequence ENSEMBL: ENSMUSP00000118474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037422] [ENSMUST00000122935] [ENSMUST00000125871] [ENSMUST00000125927] [ENSMUST00000126717] [ENSMUST00000128257] [ENSMUST00000129881] [ENSMUST00000134177] [ENSMUST00000134862] [ENSMUST00000177950] [ENSMUST00000150806] [ENSMUST00000145397] [ENSMUST00000146931] [ENSMUST00000150626]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037422
AA Change: V325A

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043974
Gene: ENSMUSG00000034928
AA Change: V325A

DomainStartEndE-ValueType
low complexity region 104 113 N/A INTRINSIC
low complexity region 206 228 N/A INTRINSIC
RING 298 338 3.21e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123333
Predicted Effect probably damaging
Transcript: ENSMUST00000125871
AA Change: V407A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118474
Gene: ENSMUSG00000034928
AA Change: V407A

DomainStartEndE-ValueType
low complexity region 148 155 N/A INTRINSIC
low complexity region 186 195 N/A INTRINSIC
low complexity region 288 310 N/A INTRINSIC
RING 380 420 3.21e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125927
Predicted Effect probably benign
Transcript: ENSMUST00000126717
SMART Domains Protein: ENSMUSP00000116043
Gene: ENSMUSG00000034928

DomainStartEndE-ValueType
low complexity region 185 194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128038
Predicted Effect possibly damaging
Transcript: ENSMUST00000128257
AA Change: V325A

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116850
Gene: ENSMUSG00000034928
AA Change: V325A

DomainStartEndE-ValueType
low complexity region 104 113 N/A INTRINSIC
low complexity region 206 228 N/A INTRINSIC
RING 298 338 3.21e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129881
Predicted Effect probably benign
Transcript: ENSMUST00000134177
Predicted Effect probably damaging
Transcript: ENSMUST00000134862
AA Change: V326A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114259
Gene: ENSMUSG00000034928
AA Change: V326A

DomainStartEndE-ValueType
low complexity region 67 74 N/A INTRINSIC
low complexity region 105 114 N/A INTRINSIC
low complexity region 207 229 N/A INTRINSIC
RING 299 339 1.5e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145215
Predicted Effect possibly damaging
Transcript: ENSMUST00000177950
AA Change: V325A

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136732
Gene: ENSMUSG00000034928
AA Change: V325A

DomainStartEndE-ValueType
low complexity region 104 113 N/A INTRINSIC
low complexity region 206 228 N/A INTRINSIC
RING 298 338 3.21e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150806
AA Change: V326A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123198
Gene: ENSMUSG00000034928
AA Change: V326A

DomainStartEndE-ValueType
low complexity region 67 74 N/A INTRINSIC
low complexity region 105 114 N/A INTRINSIC
low complexity region 207 229 N/A INTRINSIC
RING 299 339 1.5e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145397
Predicted Effect probably benign
Transcript: ENSMUST00000146931
Predicted Effect probably benign
Transcript: ENSMUST00000150626
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Rnf44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01837:Rnf44 APN 13 54682153 missense probably damaging 1.00
IGL02629:Rnf44 APN 13 54683062 missense possibly damaging 0.89
IGL03030:Rnf44 APN 13 54681990 nonsense probably null
R1403:Rnf44 UTSW 13 54682008 missense probably damaging 0.99
R1403:Rnf44 UTSW 13 54682008 missense probably damaging 0.99
R1654:Rnf44 UTSW 13 54681779 missense possibly damaging 0.82
R1745:Rnf44 UTSW 13 54682192 missense probably damaging 1.00
R3983:Rnf44 UTSW 13 54683148 missense probably damaging 1.00
R4086:Rnf44 UTSW 13 54682335 missense possibly damaging 0.77
R4893:Rnf44 UTSW 13 54681932 critical splice donor site probably null
R5907:Rnf44 UTSW 13 54682808 missense possibly damaging 0.50
R5997:Rnf44 UTSW 13 54682800 missense possibly damaging 0.50
R6250:Rnf44 UTSW 13 54682107 splice site probably null
R6519:Rnf44 UTSW 13 54681786 missense probably damaging 1.00
R7694:Rnf44 UTSW 13 54682028 missense probably damaging 1.00
R7965:Rnf44 UTSW 13 54682854 missense probably benign 0.00
R8725:Rnf44 UTSW 13 54684013 missense probably damaging 0.97
X0012:Rnf44 UTSW 13 54682847 nonsense probably null
Posted On2014-05-07