Incidental Mutation 'IGL02751:AU021092'
ID306284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AU021092
Ensembl Gene ENSMUSG00000051669
Gene Nameexpressed sequence AU021092
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02751
Quality Score
Status
Chromosome16
Chromosomal Location5211823-5222299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5212619 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 304 (V304L)
Ref Sequence ENSEMBL: ENSMUSP00000058860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050160]
Predicted Effect probably damaging
Transcript: ENSMUST00000050160
AA Change: V304L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: V304L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:DUF4735 56 334 2.4e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183396
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in AU021092
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4466001:AU021092 UTSW 16 5220389 missense probably damaging 1.00
R0268:AU021092 UTSW 16 5222167 missense possibly damaging 0.71
R0344:AU021092 UTSW 16 5222167 missense possibly damaging 0.71
R0346:AU021092 UTSW 16 5216854 missense possibly damaging 0.93
R0525:AU021092 UTSW 16 5217861 missense possibly damaging 0.74
R3804:AU021092 UTSW 16 5216762 missense possibly damaging 0.58
R4659:AU021092 UTSW 16 5212147 missense probably damaging 1.00
R4701:AU021092 UTSW 16 5212193 missense probably benign 0.13
R5031:AU021092 UTSW 16 5212604 missense probably damaging 1.00
R5891:AU021092 UTSW 16 5212131 missense probably benign 0.00
R6175:AU021092 UTSW 16 5220448 splice site probably null
R6217:AU021092 UTSW 16 5212186 missense possibly damaging 0.69
R6579:AU021092 UTSW 16 5222156 missense probably damaging 1.00
R6957:AU021092 UTSW 16 5212153 missense probably benign 0.03
Posted On2015-04-16