Incidental Mutation 'R5045:Txndc17'
ID394344
Institutional Source Beutler Lab
Gene Symbol Txndc17
Ensembl Gene ENSMUSG00000020803
Gene Namethioredoxin domain containing 17
SynonymsD11Ertd672e, TRP14, 4831443O22Rik, Txnl5
MMRRC Submission 042635-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.931) question?
Stock #R5045 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location72207547-72210015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72207711 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 30 (Y30H)
Ref Sequence ENSEMBL: ENSMUSP00000021158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021157] [ENSMUST00000021158] [ENSMUST00000108505] [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530] [ENSMUST00000204457]
PDB Structure
Solution structure of mouse putative 42-9-9 protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000021157
SMART Domains Protein: ENSMUSP00000021157
Gene: ENSMUSG00000020801

DomainStartEndE-ValueType
Pfam:Med31 15 109 2.7e-43 PFAM
low complexity region 115 125 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021158
AA Change: Y30H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021158
Gene: ENSMUSG00000020803
AA Change: Y30H

DomainStartEndE-ValueType
Pfam:DUF953 8 122 7.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108505
SMART Domains Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108506
SMART Domains Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
Pfam:DUF4673 1 954 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128648
Predicted Effect probably benign
Transcript: ENSMUST00000131546
SMART Domains Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
low complexity region 360 377 N/A INTRINSIC
low complexity region 545 559 N/A INTRINSIC
coiled coil region 625 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142530
SMART Domains Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154093
Predicted Effect probably benign
Transcript: ENSMUST00000204457
SMART Domains Protein: ENSMUSP00000144817
Gene: ENSMUSG00000107877

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 26 43 N/A INTRINSIC
low complexity region 240 250 N/A INTRINSIC
Meta Mutation Damage Score 0.7861 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,476,178 probably benign Het
2210408I21Rik A G 13: 77,267,808 probably null Het
4930430A15Rik T A 2: 111,193,459 Q110L unknown Het
4930519P11Rik A T 2: 154,613,030 C136* probably null Het
4930519P11Rik G T 2: 154,613,062 probably benign Het
Adgrb3 T A 1: 25,074,779 H1189L probably damaging Het
Arhgap24 A G 5: 102,891,877 I227V possibly damaging Het
Arhgap29 C A 3: 122,002,595 N445K probably benign Het
Atp13a3 T C 16: 30,339,876 H811R probably benign Het
Cd2ap T C 17: 42,807,960 N529S probably benign Het
Cdh7 T A 1: 110,098,350 S439T probably benign Het
Ces3a G T 8: 105,050,616 probably null Het
Cftr T A 6: 18,230,081 N408K probably benign Het
Chil5 T C 3: 106,024,140 N136S possibly damaging Het
Col20a1 A G 2: 181,006,845 D933G probably damaging Het
Crh A T 3: 19,693,989 L163* probably null Het
Ctps A C 4: 120,552,878 probably null Het
Cyb5d2 A G 11: 72,795,575 V63A probably damaging Het
Cyp2d11 T A 15: 82,391,071 probably null Het
Dclk3 A T 9: 111,467,788 E133D probably damaging Het
Dhrs9 A G 2: 69,392,995 D29G probably benign Het
Disp2 G A 2: 118,792,062 E1092K probably benign Het
Enpp3 A G 10: 24,776,767 I764T probably damaging Het
Epm2aip1 C A 9: 111,273,359 R467S possibly damaging Het
Fam20a T C 11: 109,677,885 I272V probably benign Het
Fgb T C 3: 83,043,373 Y358C probably damaging Het
Gm11596 A T 11: 99,792,869 S142T unknown Het
Gm4858 G T 3: 93,074,217 D181Y probably damaging Het
Golga4 A G 9: 118,565,656 T9A probably benign Het
Hmcn2 C T 2: 31,409,081 P2813L probably damaging Het
Ighv1-9 C T 12: 114,583,820 G34R probably damaging Het
Kalrn A C 16: 34,314,352 Y353* probably null Het
Klrk1 T C 6: 129,617,503 Y42C probably benign Het
Lin9 T A 1: 180,669,198 L351I probably benign Het
Mbtd1 T C 11: 93,931,815 Y484H probably benign Het
Mki67 T C 7: 135,707,904 R273G possibly damaging Het
Myh11 A T 16: 14,239,527 L308* probably null Het
Nacc2 G A 2: 26,090,138 probably null Het
Nadsyn1 A G 7: 143,806,969 L354P probably damaging Het
Ntrk3 T A 7: 78,460,424 Q354L probably benign Het
Olfr1124 A T 2: 87,435,146 I220L probably damaging Het
Olfr584 G A 7: 103,086,457 G308E probably benign Het
Phactr3 T C 2: 178,331,619 I470T probably damaging Het
Pkd1l3 C T 8: 109,623,155 P211S unknown Het
Prickle2 T C 6: 92,376,394 D753G probably damaging Het
Prr12 A G 7: 45,049,894 probably benign Het
Psd3 T C 8: 67,713,825 E917G probably damaging Het
Rgsl1 T A 1: 153,821,522 K551* probably null Het
Stag3 T C 5: 138,304,478 L1033P probably damaging Het
Tcaf3 T A 6: 42,593,684 Q378L possibly damaging Het
Tespa1 A T 10: 130,362,035 K309* probably null Het
Trim69 A G 2: 122,174,246 T275A probably benign Het
Ugt2a2 A T 5: 87,474,892 F72L probably damaging Het
Vmn2r59 A T 7: 42,046,072 D305E possibly damaging Het
Vmn2r71 A G 7: 85,624,389 I804V probably benign Het
Zfy2 T C Y: 2,107,159 K492E possibly damaging Het
Zkscan1 A G 5: 138,100,920 H375R probably damaging Het
Other mutations in Txndc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0212:Txndc17 UTSW 11 72207732 missense probably benign
R1536:Txndc17 UTSW 11 72207707 missense probably damaging 0.97
R1793:Txndc17 UTSW 11 72208745 missense probably benign 0.29
R4171:Txndc17 UTSW 11 72207711 missense probably damaging 0.97
R4604:Txndc17 UTSW 11 72209448 missense probably benign
R8015:Txndc17 UTSW 11 72207742 missense probably benign
Predicted Primers PCR Primer
(F):5'- GAACCTTGTCCACGCCTTAC -3'
(R):5'- GGTTCCAAGATCCGAATCCATG -3'

Sequencing Primer
(F):5'- GTCCACGCCTTACTTGGG -3'
(R):5'- TACAGCTCAGGCGCTTCTG -3'
Posted On2016-06-15