Incidental Mutation 'R6217:AU021092'
ID503804
Institutional Source Beutler Lab
Gene Symbol AU021092
Ensembl Gene ENSMUSG00000051669
Gene Nameexpressed sequence AU021092
Synonyms
MMRRC Submission 044350-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #R6217 (G1)
Quality Score225.009
Status Validated
Chromosome16
Chromosomal Location5211823-5222299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5212186 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 322 (T322S)
Ref Sequence ENSEMBL: ENSMUSP00000058860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050160]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050160
AA Change: T322S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: T322S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik G A 6: 40,926,085 P118S possibly damaging Het
Abraxas2 G A 7: 132,874,965 A145T probably damaging Het
Adamts20 T C 15: 94,338,715 D808G probably benign Het
Ankdd1a C T 9: 65,508,061 A227T possibly damaging Het
Arsk T A 13: 76,091,816 Q46L unknown Het
Asnsd1 A G 1: 53,348,028 F147L probably benign Het
Atp5a1 T A 18: 77,781,356 S427T probably benign Het
Atp6v1b2 A C 8: 69,109,878 probably null Het
Bcl7c A T 7: 127,708,526 M1K probably null Het
Cacna1i T C 15: 80,389,132 V1673A probably damaging Het
Ccdc146 A T 5: 21,317,902 probably null Het
Cdc7 A G 5: 106,972,794 D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,638,900 probably benign Het
Chd3 T A 11: 69,345,535 Q1950L probably damaging Het
Cutc T C 19: 43,759,997 L111S probably damaging Het
Cyp2j6 A G 4: 96,518,161 F458L probably damaging Het
Ddhd1 T C 14: 45,619,514 probably null Het
Dstyk T C 1: 132,459,939 S804P probably damaging Het
Ech1 A G 7: 28,831,836 D283G possibly damaging Het
Exosc10 A G 4: 148,582,311 probably null Het
Fam160b2 T C 14: 70,591,758 probably null Het
Fancg A C 4: 43,010,084 V5G probably benign Het
Fbxo11 A G 17: 88,008,904 V394A probably benign Het
Fcmr C T 1: 130,878,323 R339W probably damaging Het
Fsip2 T A 2: 82,988,418 L4832M possibly damaging Het
Gab1 A G 8: 80,791,608 V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 probably null Het
Gon4l T C 3: 88,892,661 V871A possibly damaging Het
Hspg2 A G 4: 137,540,248 T2056A probably damaging Het
Lrrc3 T A 10: 77,901,009 T198S probably benign Het
Lsamp A T 16: 42,134,312 E174V possibly damaging Het
Ltbr C T 6: 125,307,454 V342M probably damaging Het
Muc16 A T 9: 18,655,446 S1926T unknown Het
Ntn1 C A 11: 68,213,332 V497F possibly damaging Het
Olfr181 T C 16: 58,926,514 D19G probably benign Het
Olfr700 A T 7: 106,806,072 L130Q probably damaging Het
Olfr936 A T 9: 39,046,743 *270R probably null Het
Osmr T C 15: 6,823,566 Y615C probably damaging Het
Pcdhgb2 T C 18: 37,690,001 V15A possibly damaging Het
Pkd2l2 A G 18: 34,414,680 N162S probably benign Het
Ppp1r12a G A 10: 108,240,184 probably null Het
Prtg C T 9: 72,904,794 P899S probably damaging Het
Ptprn A T 1: 75,248,166 S912R probably damaging Het
Rex2 A G 4: 147,057,474 T140A possibly damaging Het
Ryr2 T G 13: 11,834,078 D339A probably damaging Het
Sf3b1 C T 1: 55,007,518 R289H probably damaging Het
Slc17a9 A G 2: 180,737,662 D309G probably benign Het
Slc4a10 A G 2: 62,303,951 R1004G probably benign Het
Sprr2f A T 3: 92,366,059 Q55L unknown Het
Syne1 C T 10: 5,293,761 G2801D probably benign Het
Tenm3 A T 8: 48,293,665 V1026D probably damaging Het
Ticam1 A T 17: 56,270,730 I455N probably damaging Het
Tmem161b A G 13: 84,251,244 I6M possibly damaging Het
Ubn1 A G 16: 5,077,232 E714G probably damaging Het
Ush2a T G 1: 188,743,454 probably null Het
Usp19 G A 9: 108,500,144 V874M probably damaging Het
Vmn2r106 T C 17: 20,268,239 T633A probably benign Het
Vmn2r75 A T 7: 86,166,167 probably benign Het
Zfyve27 T C 19: 42,189,577 V386A probably damaging Het
Zscan20 A T 4: 128,604,534 W24R probably damaging Het
Other mutations in AU021092
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02751:AU021092 APN 16 5212619 missense probably damaging 1.00
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
R6579:AU021092 UTSW 16 5222156 missense probably damaging 1.00
R6957:AU021092 UTSW 16 5212153 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGAAACACTAAGGGGCCTGC -3'
(R):5'- TTACTTGTAGAGGCAAGAGCAG -3'

Sequencing Primer
(F):5'- ACTAAGGGGCCTGCCAGTC -3'
(R):5'- ATGAGCTTCTTAGTTCTGCACAG -3'
Posted On2018-02-27