Incidental Mutation 'R4659:AU021092'
ID352710
Institutional Source Beutler Lab
Gene Symbol AU021092
Ensembl Gene ENSMUSG00000051669
Gene Nameexpressed sequence AU021092
Synonyms
MMRRC Submission 041919-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4659 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location5211823-5222299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 5212147 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Proline at position 335 (A335P)
Ref Sequence ENSEMBL: ENSMUSP00000058860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050160]
Predicted Effect probably damaging
Transcript: ENSMUST00000050160
AA Change: A335P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: A335P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:DUF4735 56 334 2.4e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183396
Meta Mutation Damage Score 0.1512 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,216,276 probably benign Het
Abcc9 C A 6: 142,672,595 probably null Het
Ankrd22 C T 19: 34,125,568 V118I probably damaging Het
Aoc1 A T 6: 48,906,076 E295D probably benign Het
Arap2 T C 5: 62,654,126 N1114S possibly damaging Het
Carhsp1 T C 16: 8,664,265 T51A probably benign Het
Ccdc144b T C 3: 36,025,954 D218G possibly damaging Het
Cdc42bpb T C 12: 111,339,891 D152G probably damaging Het
Cep70 T A 9: 99,296,341 D497E possibly damaging Het
Chrm5 T C 2: 112,479,757 N338S probably benign Het
Cldn8 G A 16: 88,562,408 H210Y probably benign Het
Clhc1 T A 11: 29,578,229 *586K probably null Het
Dopey1 T A 9: 86,502,032 probably benign Het
Dync1h1 T C 12: 110,628,767 F1371S possibly damaging Het
Eif6 A G 2: 155,826,181 I46T probably damaging Het
Esco2 G A 14: 65,826,586 T383M possibly damaging Het
Exoc8 T C 8: 124,897,532 D32G probably damaging Het
Fam149b G T 14: 20,367,873 S216I probably benign Het
Fam219a T C 4: 41,521,645 D87G probably null Het
Fbxw26 A T 9: 109,744,871 V71D probably damaging Het
Gabra4 T A 5: 71,641,144 K164M probably damaging Het
Gm8603 G A 17: 13,517,028 noncoding transcript Het
Gnmt A G 17: 46,725,966 F239S probably damaging Het
Gpsm1 G A 2: 26,319,831 probably benign Het
Jam2 G A 16: 84,812,952 V151M probably damaging Het
Kcnj1 A T 9: 32,394,148 D2V probably benign Het
Limch1 C T 5: 67,027,557 R797C probably damaging Het
Lrrc9 T A 12: 72,470,264 F597I probably damaging Het
Lrriq3 T A 3: 155,129,453 I275N possibly damaging Het
Mcoln1 T A 8: 3,510,840 S387R probably damaging Het
Mgst3 T A 1: 167,377,279 Q58L probably damaging Het
Mical1 G A 10: 41,486,936 probably benign Het
Mmp3 C A 9: 7,453,673 D431E probably benign Het
Mx1 T C 16: 97,455,239 probably null Het
Myo7a A G 7: 98,085,466 L607P probably damaging Het
Myt1l A G 12: 29,849,457 N153D probably damaging Het
Nfu1 A T 6: 87,019,426 T120S probably damaging Het
Nhlrc2 T C 19: 56,576,267 V341A possibly damaging Het
Notch1 T C 2: 26,470,889 E1148G probably damaging Het
Nqo1 C T 8: 107,391,044 probably null Het
Nwd1 T A 8: 72,695,321 D998E probably benign Het
Olfr1049 G A 2: 86,255,013 Q227* probably null Het
Oxct2a T C 4: 123,322,680 I303V probably benign Het
Parp10 A T 15: 76,242,985 D58E probably damaging Het
Pcdha6 T A 18: 36,969,239 V495E probably damaging Het
Pitrm1 T A 13: 6,553,182 S88R probably benign Het
Pxdn T C 12: 29,994,553 V510A probably benign Het
Ranbp17 T A 11: 33,266,288 D820V probably damaging Het
Sec24c G T 14: 20,683,144 G180C probably damaging Het
Serpina3n T C 12: 104,413,493 S382P probably benign Het
Sestd1 A T 2: 77,212,499 M237K probably null Het
Sf3a2 T C 10: 80,803,584 I136T probably damaging Het
Sh3tc2 A G 18: 61,974,509 Y197C probably benign Het
Speer4b T C 5: 27,497,895 K204E probably benign Het
Speer4f1 A C 5: 17,476,223 E33A possibly damaging Het
Sspo T A 6: 48,484,213 D3529E probably damaging Het
Stard13 T C 5: 151,062,788 D419G probably benign Het
Tg A G 15: 66,673,920 S164G possibly damaging Het
Thap12 A G 7: 98,710,091 probably benign Het
Thsd1 C A 8: 22,259,298 Y667* probably null Het
Tnks A C 8: 34,849,311 Y885D possibly damaging Het
Ttll3 A G 6: 113,414,141 I896V probably benign Het
Txnip T G 3: 96,559,427 F190C probably damaging Het
Urb1 T C 16: 90,776,129 D1005G probably damaging Het
Usp3 T C 9: 66,527,070 probably null Het
Usp54 G T 14: 20,564,992 Q794K probably damaging Het
Xrn2 A G 2: 147,061,474 Q798R probably benign Het
Zfp189 A G 4: 49,530,342 I482V probably benign Het
Zfp28 A G 7: 6,393,507 N314D probably benign Het
Zmym4 A G 4: 126,948,428 probably null 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
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
Predicted Primers PCR Primer
(F):5'- CGATGGGGATATAGCTGGTC -3'
(R):5'- AACCTGGAAGATTGGCTGGG -3'

Sequencing Primer
(F):5'- GGGATATAGCTGGTCACTTTCCTC -3'
(R):5'- GGGGTGGGTGGAGACTCATATAG -3'
Posted On2015-10-08