Incidental Mutation 'IGL03064:Gm20521'
ID 409575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm20521
Ensembl Gene ENSMUSG00000092232
Gene Name predicted gene 20521
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03064
Quality Score
Status
Chromosome 14
Chromosomal Location 55120898-55135594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55134680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 301 (S301T)
Ref Sequence ENSEMBL: ENSMUSP00000133937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022808] [ENSMUST00000116476] [ENSMUST00000134077] [ENSMUST00000139985] [ENSMUST00000140691] [ENSMUST00000141446] [ENSMUST00000150975] [ENSMUST00000172557] [ENSMUST00000172695] [ENSMUST00000146271]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022808
AA Change: S274T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: S274T

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 100 N/A INTRINSIC
coiled coil region 112 147 N/A INTRINSIC
RRM 169 241 4.19e-17 SMART
low complexity region 283 295 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000116476
AA Change: S274T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194
AA Change: S274T

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 100 N/A INTRINSIC
coiled coil region 112 147 N/A INTRINSIC
RRM 169 241 4.19e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134077
AA Change: S305T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: S305T

DomainStartEndE-ValueType
BH4 6 32 1.28e-11 SMART
BCL 46 144 1.22e-45 SMART
low complexity region 155 169 N/A INTRINSIC
RRM 200 272 4.19e-17 SMART
low complexity region 314 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139985
AA Change: S150T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122432
Gene: ENSMUSG00000022194
AA Change: S150T

DomainStartEndE-ValueType
RRM 45 117 4.19e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140691
SMART Domains Protein: ENSMUSP00000115294
Gene: ENSMUSG00000022194

DomainStartEndE-ValueType
coiled coil region 9 51 N/A INTRINSIC
RRM 73 145 4.19e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141446
AA Change: S150T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123305
Gene: ENSMUSG00000022194
AA Change: S150T

DomainStartEndE-ValueType
RRM 45 117 4.19e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000150975
AA Change: S301T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194
AA Change: S301T

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 100 N/A INTRINSIC
coiled coil region 112 147 N/A INTRINSIC
RRM 169 241 3.23e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172557
AA Change: S150T

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194
AA Change: S150T

DomainStartEndE-ValueType
RRM 45 117 4.19e-17 SMART
low complexity region 159 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172695
SMART Domains Protein: ENSMUSP00000133579
Gene: ENSMUSG00000022194

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 30 53 N/A INTRINSIC
low complexity region 59 73 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146271
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,174,864 (GRCm39) T210A probably damaging Het
Adgb T A 10: 10,276,316 (GRCm39) T351S probably benign Het
Akap9 A G 5: 4,018,755 (GRCm39) H1112R probably damaging Het
Angptl6 A T 9: 20,786,939 (GRCm39) Y261* probably null Het
Arhgef10l A C 4: 140,306,590 (GRCm39) F395V probably damaging Het
Bub1 T C 2: 127,659,373 (GRCm39) N328S probably benign Het
Cacna1s A G 1: 136,039,731 (GRCm39) N1186D probably damaging Het
Cacna2d2 C A 9: 107,386,474 (GRCm39) F200L probably damaging Het
Calca G A 7: 114,232,919 (GRCm39) S110L probably benign Het
Ccdc120 G A X: 7,601,601 (GRCm39) P263S probably benign Het
Dcaf8l A G X: 88,448,857 (GRCm39) V424A possibly damaging Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
F5 A T 1: 164,023,163 (GRCm39) T1574S probably benign Het
Fam227b T C 2: 125,968,762 (GRCm39) probably null Het
Hsd17b7 A T 1: 169,787,287 (GRCm39) I239N probably benign Het
Itih1 C A 14: 30,663,514 (GRCm39) E163D probably benign Het
Lama1 A T 17: 68,086,099 (GRCm39) Y1446F probably benign Het
Lama3 C T 18: 12,572,406 (GRCm39) T537M possibly damaging Het
Lars1 G T 18: 42,354,636 (GRCm39) Y770* probably null Het
Lrp2 A T 2: 69,313,477 (GRCm39) V2418E probably damaging Het
Maip1 A G 1: 57,446,359 (GRCm39) E143G probably damaging Het
Mast4 G T 13: 102,897,472 (GRCm39) S739* probably null Het
Mctp1 C T 13: 76,949,632 (GRCm39) Q555* probably null Het
Med14 A T X: 12,613,742 (GRCm39) D291E probably benign Het
Mgat2 T A 12: 69,231,777 (GRCm39) V117D probably damaging Het
Mllt1 A T 17: 57,207,094 (GRCm39) M250K probably benign Het
Myt1 A C 2: 181,439,594 (GRCm39) Y372S probably benign Het
Naa16 T A 14: 79,577,068 (GRCm39) Q735H probably damaging Het
Ncf4 A G 15: 78,135,102 (GRCm39) Y53C probably damaging Het
Nlrp4a A T 7: 26,148,934 (GRCm39) K180N probably benign Het
Nova1 A G 12: 46,746,861 (GRCm39) V472A probably damaging Het
Nup153 T C 13: 46,847,315 (GRCm39) T705A probably benign Het
Odf2 T A 2: 29,791,091 (GRCm39) N79K probably benign Het
Or4f7 A G 2: 111,644,768 (GRCm39) I101T possibly damaging Het
Pard3b G A 1: 62,237,930 (GRCm39) probably benign Het
Pde8b G A 13: 95,182,906 (GRCm39) T388I probably damaging Het
Phactr2 A G 10: 13,264,457 (GRCm39) probably benign Het
Phf12 T C 11: 77,874,186 (GRCm39) S17P probably damaging Het
Psmg2 T A 18: 67,779,102 (GRCm39) L90* probably null Het
Ryr2 T C 13: 11,658,788 (GRCm39) probably null Het
Sec23b T C 2: 144,423,952 (GRCm39) F534L probably benign Het
Sin3b A G 8: 73,483,686 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,947,818 (GRCm39) L463Q probably damaging Het
Slc35g3 T C 11: 69,651,895 (GRCm39) H52R possibly damaging Het
Slc6a3 G T 13: 73,719,585 (GRCm39) S538I probably damaging Het
Socs2 G T 10: 95,248,713 (GRCm39) C133* probably null Het
Srebf2 G A 15: 82,076,423 (GRCm39) R691H probably benign Het
Tlr11 C A 14: 50,598,557 (GRCm39) P181Q probably damaging Het
Tlr7 T A X: 166,089,203 (GRCm39) Q761L possibly damaging Het
Tmem120b T A 5: 123,240,336 (GRCm39) Y90N possibly damaging Het
Tpcn1 T C 5: 120,675,631 (GRCm39) I778V possibly damaging Het
Ttll8 T C 15: 88,803,797 (GRCm39) T385A probably benign Het
Vmn1r223 G A 13: 23,434,153 (GRCm39) R249H probably damaging Het
Vmn2r53 A T 7: 12,334,937 (GRCm39) I241N possibly damaging Het
Wdfy3 T C 5: 102,083,863 (GRCm39) R808G probably damaging Het
Zfyve26 T A 12: 79,308,565 (GRCm39) S231C probably damaging Het
Other mutations in Gm20521
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Gm20521 APN 14 55,122,079 (GRCm39) nonsense probably null
IGL02394:Gm20521 APN 14 55,135,499 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02