Incidental Mutation 'IGL02629:Rnf44'
ID301199
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 #IGL02629
Quality Score
Status
Chromosome13
Chromosomal Location54679399-54693907 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 54683062 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 207 (Q207P)
Ref Sequence ENSEMBL: ENSMUSP00000116043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037422] [ENSMUST00000122935] [ENSMUST00000125871] [ENSMUST00000125927] [ENSMUST00000126717] [ENSMUST00000128257] [ENSMUST00000129881] [ENSMUST00000134177] [ENSMUST00000134862] [ENSMUST00000145397] [ENSMUST00000146931] [ENSMUST00000150626] [ENSMUST00000150806] [ENSMUST00000177950]
Predicted Effect probably benign
Transcript: ENSMUST00000037422
AA Change: Q126P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000043974
Gene: ENSMUSG00000034928
AA Change: Q126P

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 benign
Transcript: ENSMUST00000125871
AA Change: Q208P

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118474
Gene: ENSMUSG00000034928
AA Change: Q208P

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 possibly damaging
Transcript: ENSMUST00000126717
AA Change: Q207P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116043
Gene: ENSMUSG00000034928
AA Change: Q207P

DomainStartEndE-ValueType
low complexity region 185 194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128038
Predicted Effect probably benign
Transcript: ENSMUST00000128257
AA Change: Q126P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116850
Gene: ENSMUSG00000034928
AA Change: Q126P

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 benign
Transcript: ENSMUST00000134862
AA Change: Q127P

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114259
Gene: ENSMUSG00000034928
AA Change: Q127P

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 probably benign
Transcript: ENSMUST00000145397
Predicted Effect probably benign
Transcript: ENSMUST00000146931
Predicted Effect probably benign
Transcript: ENSMUST00000150626
Predicted Effect probably benign
Transcript: ENSMUST00000150806
AA Change: Q127P

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123198
Gene: ENSMUSG00000034928
AA Change: Q127P

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: ENSMUST00000177950
AA Change: Q126P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136732
Gene: ENSMUSG00000034928
AA Change: Q126P

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,609,144 probably benign Het
Aadacl3 A G 4: 144,463,629 I34T possibly damaging Het
Acan T A 7: 79,111,979 I1979N possibly damaging Het
Ankrd27 A G 7: 35,625,696 D701G probably benign Het
Arhgap31 C T 16: 38,609,164 G450S probably benign Het
Braf T C 6: 39,688,299 E45G possibly damaging Het
Btnl6 C T 17: 34,514,468 V178M probably damaging Het
Capg A T 6: 72,555,754 Q67L probably benign Het
Carmil3 A G 14: 55,499,068 N663S probably damaging Het
Casz1 T A 4: 148,944,391 S1098T probably benign Het
Cd55b A T 1: 130,419,798 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpf A G 1: 189,652,334 L2583P probably damaging Het
Clec4a1 A C 6: 122,932,147 probably null Het
Corin T C 5: 72,332,673 N653S probably damaging Het
Dhx36 T C 3: 62,506,734 E69G probably benign Het
Dpy19l1 C A 9: 24,438,713 probably benign Het
Fam184a T C 10: 53,698,811 N234S possibly damaging Het
Foxg1 A G 12: 49,385,548 S355G probably benign Het
Fsd1l T C 4: 53,686,417 S277P probably damaging Het
Hadh T A 3: 131,235,635 D245V probably damaging Het
Jag2 G A 12: 112,914,514 probably benign Het
Klhl18 A T 9: 110,429,938 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Mcoln2 A G 3: 146,170,044 Y89C probably benign Het
Mug1 A T 6: 121,840,065 Y31F possibly damaging Het
Ndufb5 A G 3: 32,737,199 T32A probably benign Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Nudt6 A G 3: 37,405,171 Y222H probably benign Het
Olfr1269 A T 2: 90,118,857 L247* probably null Het
Pla2g4c A T 7: 13,335,377 R159* probably null Het
Pnpla7 A G 2: 25,050,945 D1103G probably damaging Het
Pof1b T G X: 112,645,237 probably benign Het
Prrg2 C T 7: 45,056,742 probably null Het
Rab3gap1 A G 1: 127,909,863 T221A probably benign Het
Rfx7 A G 9: 72,619,259 N1244D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf123 A T 9: 108,070,789 probably benign Het
Serpina3g A G 12: 104,241,178 D200G probably damaging Het
Slc5a4a T A 10: 76,147,579 S17T unknown Het
Smc4 G T 3: 69,025,873 C609F probably damaging Het
Sync T C 4: 129,293,951 F259L probably damaging Het
Tas2r113 T C 6: 132,893,336 L109P probably damaging Het
Tjp2 C A 19: 24,122,379 probably benign Het
Tmem30a C A 9: 79,776,249 probably benign Het
Unc80 T C 1: 66,483,317 V226A possibly damaging Het
Upk2 A T 9: 44,454,139 L44Q probably damaging Het
Usp42 T C 5: 143,723,154 Y203C possibly damaging Het
Vmn1r28 A T 6: 58,265,816 I215F probably benign Het
Zswim2 A G 2: 83,925,209 V116A possibly damaging Het
Other mutations in Rnf44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01837:Rnf44 APN 13 54682153 missense probably damaging 1.00
IGL01934:Rnf44 APN 13 54681950 missense probably damaging 0.98
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
X0012:Rnf44 UTSW 13 54682847 nonsense probably null
Posted On2015-04-16