Incidental Mutation 'R8856:Tepsin'
ID 675355
Institutional Source Beutler Lab
Gene Symbol Tepsin
Ensembl Gene ENSMUSG00000025377
Gene Name TEPSIN, adaptor related protein complex 4 accessory protein
Synonyms Enthd2, 2410002I01Rik
MMRRC Submission 068737-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119981357-119989557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119982654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 472 (V472A)
Ref Sequence ENSEMBL: ENSMUSP00000091428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026442] [ENSMUST00000093901] [ENSMUST00000106225]
AlphaFold Q3U3N6
Predicted Effect probably benign
Transcript: ENSMUST00000026442
AA Change: V466A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: V466A

DomainStartEndE-ValueType
Pfam:ENTH 20 116 8.8e-9 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 254 287 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
low complexity region 512 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093901
AA Change: V472A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: V472A

DomainStartEndE-ValueType
Pfam:ENTH 20 135 2.5e-10 PFAM
low complexity region 137 149 N/A INTRINSIC
low complexity region 260 293 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 518 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106225
AA Change: V404A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: V404A

DomainStartEndE-ValueType
Pfam:ENTH 20 135 3.5e-11 PFAM
low complexity region 137 149 N/A INTRINSIC
low complexity region 192 225 N/A INTRINSIC
low complexity region 274 285 N/A INTRINSIC
low complexity region 450 461 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,618,349 (GRCm39) R214H probably benign Het
Abca4 A G 3: 121,906,096 (GRCm39) S822G probably benign Het
Adgrv1 T A 13: 81,707,621 (GRCm39) I1262F probably benign Het
Agbl2 A G 2: 90,632,088 (GRCm39) D482G probably damaging Het
Asph T A 4: 9,630,947 (GRCm39) T134S possibly damaging Het
Cacna1a C T 8: 85,286,070 (GRCm39) A905V probably benign Het
Cacna1b C T 2: 24,569,530 (GRCm39) R798H probably benign Het
Cpne8 G T 15: 90,486,044 (GRCm39) Q140K probably benign Het
Crocc2 A T 1: 93,120,847 (GRCm39) N538I probably benign Het
Cyp2j9 T A 4: 96,462,184 (GRCm39) I366F probably damaging Het
Dchs1 A T 7: 105,410,064 (GRCm39) D1769E probably damaging Het
Def6 A T 17: 28,435,972 (GRCm39) I44F probably damaging Het
Dnah7a G A 1: 53,462,422 (GRCm39) T3723M probably damaging Het
Ecd T A 14: 20,387,140 (GRCm39) Y198F probably damaging Het
Ecel1 A C 1: 87,079,760 (GRCm39) M451R probably damaging Het
Eea1 A G 10: 95,831,506 (GRCm39) D199G probably benign Het
Efna5 A T 17: 62,914,374 (GRCm39) I217N unknown Het
F13a1 A T 13: 37,100,859 (GRCm39) D428E probably damaging Het
Fads1 T G 19: 10,170,276 (GRCm39) I272S probably benign Het
Fam149a C T 8: 45,834,611 (GRCm39) A63T Het
Fam83a A T 15: 57,872,977 (GRCm39) N269Y probably damaging Het
Fasn G A 11: 120,708,979 (GRCm39) T568I possibly damaging Het
Fbn1 A G 2: 125,156,637 (GRCm39) S2363P probably damaging Het
Fbxl4 T A 4: 22,390,803 (GRCm39) W329R probably damaging Het
Fgf12 A T 16: 28,008,233 (GRCm39) V189E probably damaging Het
Frmd4b A T 6: 97,269,359 (GRCm39) Y984* probably null Het
Galm A G 17: 80,490,661 (GRCm39) T273A possibly damaging Het
Gm43302 A G 5: 105,438,739 (GRCm39) S50P probably damaging Het
Gm45861 C T 8: 28,010,788 (GRCm39) S561L unknown Het
Gnao1 A G 8: 94,538,045 (GRCm39) I28V probably benign Het
Golga4 A G 9: 118,385,779 (GRCm39) N967S probably damaging Het
Gpr155 A T 2: 73,203,993 (GRCm39) F274I probably benign Het
Grm1 A C 10: 10,595,092 (GRCm39) N845K probably damaging Het
Hnrnpa2b1 A T 6: 51,443,120 (GRCm39) probably null Het
Hsf4 G T 8: 105,996,628 (GRCm39) D18Y probably null Het
Htt T A 5: 35,060,675 (GRCm39) D2774E probably benign Het
Iars2 A G 1: 185,028,621 (GRCm39) I679T probably benign Het
Irf4 T C 13: 30,945,414 (GRCm39) F387L probably damaging Het
Itgb5 A G 16: 33,720,962 (GRCm39) Y342C probably damaging Het
Kcnmb4 A G 10: 116,282,299 (GRCm39) W133R possibly damaging Het
Ldhc A T 7: 46,525,999 (GRCm39) H271L probably benign Het
Lmtk2 C A 5: 144,113,079 (GRCm39) D1266E probably damaging Het
Lrrtm1 C A 6: 77,221,807 (GRCm39) N421K possibly damaging Het
Ly9 G A 1: 171,432,587 (GRCm39) T142I probably benign Het
Manba A G 3: 135,223,764 (GRCm39) Y217C probably damaging Het
Mapkbp1 T C 2: 119,845,109 (GRCm39) L330P probably damaging Het
Marchf2 A T 17: 33,915,165 (GRCm39) V143E probably benign Het
Mmel1 A T 4: 154,969,478 (GRCm39) D191V possibly damaging Het
Mrgpra1 A T 7: 46,985,583 (GRCm39) I32N probably benign Het
Mroh2b C T 15: 4,960,510 (GRCm39) Q748* probably null Het
Mrpl34 T G 8: 71,918,024 (GRCm39) W66G probably damaging Het
Muc21 T C 17: 35,931,865 (GRCm39) T774A unknown Het
Nde1 T A 16: 14,001,446 (GRCm39) S165T Het
Nek10 T G 14: 14,937,610 (GRCm38) I776M probably damaging Het
Nell2 A G 15: 95,281,552 (GRCm39) S385P probably damaging Het
Nsf A T 11: 103,821,568 (GRCm39) F29Y possibly damaging Het
Nsmaf A T 4: 6,433,320 (GRCm39) Y133* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or14j8 A T 17: 38,263,091 (GRCm39) S275T possibly damaging Het
Pcdhb8 A G 18: 37,489,776 (GRCm39) I485V probably benign Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Pramel24 A T 4: 143,453,303 (GRCm39) N137I probably benign Het
Prdm5 G A 6: 65,860,569 (GRCm39) V418I possibly damaging Het
Psmc6 T A 14: 45,578,320 (GRCm39) C228S probably damaging Het
Ptgfrn C T 3: 100,963,927 (GRCm39) A562T possibly damaging Het
Ralgapa2 G T 2: 146,184,139 (GRCm39) Q1576K probably benign Het
Ranbp9 C T 13: 43,567,506 (GRCm39) G400D probably damaging Het
Rgs11 A T 17: 26,423,484 (GRCm39) I134F probably damaging Het
Rnf150 T A 8: 83,762,715 (GRCm39) C317S probably damaging Het
Rrm2b G A 15: 37,960,858 (GRCm39) probably benign Het
Scai T C 2: 38,996,978 (GRCm39) Q272R probably benign Het
Sec62 C T 3: 30,847,506 (GRCm39) R4C possibly damaging Het
Sgo2b C A 8: 64,393,091 (GRCm39) L115F probably null Het
Slc44a3 G A 3: 121,307,456 (GRCm39) P177S probably damaging Het
Slc45a4 G A 15: 73,457,966 (GRCm39) L528F probably damaging Het
Slco1a1 G T 6: 141,857,624 (GRCm39) A569D probably damaging Het
Stam2 G T 2: 52,604,984 (GRCm39) Q184K probably damaging Het
Tada2b A T 5: 36,641,166 (GRCm39) L79Q probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tecta A T 9: 42,284,597 (GRCm39) D829E probably benign Het
Tnfrsf1a G A 6: 125,334,688 (GRCm39) M109I possibly damaging Het
Trim42 A T 9: 97,245,275 (GRCm39) Y508* probably null Het
Trmo T G 4: 46,387,625 (GRCm39) N65T probably benign Het
Tspear G T 10: 77,665,471 (GRCm39) E86* probably null Het
Ubr1 A T 2: 120,734,523 (GRCm39) S1126T probably damaging Het
Usp50 C A 2: 126,622,477 (GRCm39) D28Y probably damaging Het
Utp6 T A 11: 79,842,455 (GRCm39) I225F probably benign Het
Utrn T C 10: 12,543,351 (GRCm39) T1766A probably benign Het
Vcl T A 14: 21,045,160 (GRCm39) N288K probably benign Het
Vmn2r69 T C 7: 85,061,663 (GRCm39) N104D probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfhx4 T A 3: 5,455,484 (GRCm39) S1159R probably benign Het
Other mutations in Tepsin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02124:Tepsin APN 11 119,982,547 (GRCm39) missense probably benign
IGL02559:Tepsin APN 11 119,987,731 (GRCm39) missense probably benign 0.26
IGL02967:Tepsin APN 11 119,984,954 (GRCm39) missense probably benign 0.00
IGL03352:Tepsin APN 11 119,982,703 (GRCm39) missense probably benign 0.26
R0106:Tepsin UTSW 11 119,982,637 (GRCm39) splice site probably null
R0106:Tepsin UTSW 11 119,982,637 (GRCm39) splice site probably null
R0403:Tepsin UTSW 11 119,984,508 (GRCm39) splice site probably benign
R0722:Tepsin UTSW 11 119,986,163 (GRCm39) unclassified probably benign
R1853:Tepsin UTSW 11 119,989,462 (GRCm39) missense probably damaging 1.00
R3699:Tepsin UTSW 11 119,982,579 (GRCm39) missense possibly damaging 0.84
R3700:Tepsin UTSW 11 119,982,579 (GRCm39) missense possibly damaging 0.84
R4871:Tepsin UTSW 11 119,982,351 (GRCm39) missense possibly damaging 0.53
R6619:Tepsin UTSW 11 119,986,428 (GRCm39) missense probably benign 0.40
R6851:Tepsin UTSW 11 119,987,787 (GRCm39) missense probably damaging 1.00
R6970:Tepsin UTSW 11 119,986,190 (GRCm39) missense probably damaging 0.99
R7185:Tepsin UTSW 11 119,984,643 (GRCm39) missense probably damaging 1.00
R7296:Tepsin UTSW 11 119,982,534 (GRCm39) missense possibly damaging 0.87
R7947:Tepsin UTSW 11 119,985,061 (GRCm39) missense probably benign 0.12
R8697:Tepsin UTSW 11 119,988,354 (GRCm39) nonsense probably null
R9496:Tepsin UTSW 11 119,982,357 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGCCAGCAAACAAAGAGTTG -3'
(R):5'- AGGAACCTCCAACTCCTTCCTG -3'

Sequencing Primer
(F):5'- AGTTGGGACTCCACGGG -3'
(R):5'- GCAGATCCTGAGACATTTTGAAGCC -3'
Posted On 2021-07-15