Incidental Mutation 'R8031:Ubl7'
ID 617957
Institutional Source Beutler Lab
Gene Symbol Ubl7
Ensembl Gene ENSMUSG00000055720
Gene Name ubiquitin-like 7 (bone marrow stromal cell-derived)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock # R8031 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57910979-57929968 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57923206 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 312 (P312S)
Ref Sequence ENSEMBL: ENSMUSP00000150925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163329] [ENSMUST00000213654] [ENSMUST00000216260] [ENSMUST00000216841] [ENSMUST00000216925] [ENSMUST00000217129] [ENSMUST00000217132] [ENSMUST00000217180]
AlphaFold Q91W67
Predicted Effect probably damaging
Transcript: ENSMUST00000163329
AA Change: P312S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126019
Gene: ENSMUSG00000055720
AA Change: P312S

DomainStartEndE-ValueType
UBQ 6 92 3.53e-5 SMART
low complexity region 206 221 N/A INTRINSIC
low complexity region 238 253 N/A INTRINSIC
low complexity region 270 293 N/A INTRINSIC
UBA 338 376 4.92e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213654
Predicted Effect probably benign
Transcript: ENSMUST00000216260
Predicted Effect probably damaging
Transcript: ENSMUST00000216841
AA Change: P312S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216925
AA Change: P312S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217129
Predicted Effect probably benign
Transcript: ENSMUST00000217132
Predicted Effect probably benign
Transcript: ENSMUST00000217180
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,998,098 probably null Het
Arhgdib A G 6: 136,924,276 Y152H probably benign Het
Atxn10 T G 15: 85,393,393 S354A probably benign Het
Cacng6 T C 7: 3,424,885 V75A possibly damaging Het
Cdc23 A G 18: 34,651,688 V7A unknown Het
Cdc40 T A 10: 40,852,516 E157D probably benign Het
Defa25 T A 8: 21,085,237 N77K probably benign Het
Dsc2 C T 18: 20,032,274 G881R possibly damaging Het
Efcab6 T C 15: 83,983,498 K260E possibly damaging Het
Eif4a3 T C 11: 119,288,905 Y352C probably damaging Het
Erc2 A T 14: 28,011,692 K566N probably damaging Het
Fam3b A C 16: 97,481,852 Y74* probably null Het
Flg2 T A 3: 93,220,214 S2144R unknown Het
Fmo4 G T 1: 162,798,852 S375* probably null Het
Fsip2 A G 2: 82,986,891 T4323A probably benign Het
Gm11639 T C 11: 104,881,469 V2659A possibly damaging Het
Gm16503 A T 4: 147,541,310 H87L unknown Het
Hes7 C T 11: 69,122,765 A150V probably damaging Het
Hk1 T A 10: 62,296,699 N190I probably benign Het
Il17rc A G 6: 113,482,821 D576G probably damaging Het
Inhba T A 13: 16,026,275 S141T possibly damaging Het
Itga8 G T 2: 12,155,486 D840E probably benign Het
Kazn T C 4: 142,154,551 E126G Het
Kcnk13 A G 12: 99,966,179 Y78C probably damaging Het
Kcnt1 C A 2: 25,908,042 probably benign Het
Krt42 G C 11: 100,265,039 R294G possibly damaging Het
Myo9a A G 9: 59,780,091 K160E probably benign Het
Nlrp1b T C 11: 71,216,921 R585G probably benign Het
Ntrk2 T C 13: 58,874,379 I416T probably benign Het
Olfr1080 G A 2: 86,554,103 T7I probably damaging Het
Olfr1217 A T 2: 89,023,628 I125N probably damaging Het
Olfr177 T C 16: 58,872,691 N153S probably benign Het
Olfr652 T A 7: 104,565,109 I296N probably damaging Het
P4ha3 A G 7: 100,292,698 E106G probably damaging Het
Pcif1 A G 2: 164,886,522 N233S probably damaging Het
Pgm2l1 C A 7: 100,272,418 R619S probably damaging Het
Pkhd1l1 A G 15: 44,512,834 Q964R probably damaging Het
Pla2g4a T A 1: 149,901,213 I89F possibly damaging Het
Ppp1cc G A 5: 122,174,088 A306T probably benign Het
Psmd4 T C 3: 95,035,892 D67G probably damaging Het
Ptprt G A 2: 162,135,457 T307I probably damaging Het
Rnf213 C A 11: 119,430,281 C1188* probably null Het
Ror2 C T 13: 53,113,157 C426Y probably damaging Het
Sacs C T 14: 61,204,191 H1229Y probably damaging Het
Slc25a25 A T 2: 32,421,505 L118Q probably damaging Het
Slc38a6 G A 12: 73,350,603 A340T probably benign Het
Smarca5 A T 8: 80,704,682 Y969N probably damaging Het
Sorbs1 C A 19: 40,326,489 M626I probably benign Het
Spink5 T A 18: 44,010,236 D753E probably benign Het
Taf1d T G 9: 15,310,399 I226S probably damaging Het
Tmem225 A G 9: 40,149,393 I83V possibly damaging Het
Top2b A G 14: 16,412,986 D965G probably damaging Het
Traf3ip1 A G 1: 91,501,419 K303E probably damaging Het
Ube2n C T 10: 95,541,382 R70C probably benign Het
Vmn1r34 A T 6: 66,637,181 M191K probably damaging Het
Vmn2r103 C T 17: 19,793,497 H184Y probably benign Het
Vmn2r104 T C 17: 20,042,786 I138V probably benign Het
Vmn2r49 T C 7: 9,986,481 E361G possibly damaging Het
Vmn2r78 T C 7: 86,954,867 L751P probably damaging Het
Zc3h13 T A 14: 75,330,630 I1121N not run Het
Zfp235 T A 7: 24,141,689 V511E probably benign Het
Other mutations in Ubl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
breakdown UTSW 9 57929756 missense probably damaging 1.00
vaticano UTSW 9 57920510 missense probably damaging 1.00
R1457:Ubl7 UTSW 9 57914611 missense probably damaging 1.00
R2102:Ubl7 UTSW 9 57920542 missense probably damaging 1.00
R2679:Ubl7 UTSW 9 57914599 missense probably damaging 0.98
R6277:Ubl7 UTSW 9 57923272 missense possibly damaging 0.80
R6317:Ubl7 UTSW 9 57911173 critical splice donor site probably null
R6436:Ubl7 UTSW 9 57920510 missense probably damaging 1.00
R6768:Ubl7 UTSW 9 57912762 missense probably benign 0.00
R7156:Ubl7 UTSW 9 57929756 missense probably damaging 1.00
R7361:Ubl7 UTSW 9 57914622 missense probably damaging 1.00
R7459:Ubl7 UTSW 9 57914592 missense probably damaging 1.00
R7527:Ubl7 UTSW 9 57912884 missense unknown
R7670:Ubl7 UTSW 9 57929769 missense probably benign 0.00
R7687:Ubl7 UTSW 9 57914584 missense probably damaging 1.00
R7831:Ubl7 UTSW 9 57914635 missense possibly damaging 0.73
R9074:Ubl7 UTSW 9 57919354 missense possibly damaging 0.55
R9098:Ubl7 UTSW 9 57921752 missense probably benign 0.23
Z1176:Ubl7 UTSW 9 57919345 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTGTAGTTACCTAACAGGCC -3'
(R):5'- ACAAGAACAATATGCCCTTTCTGG -3'

Sequencing Primer
(F):5'- CCTCTGTTGGAAAGCAGGAGTC -3'
(R):5'- AAACTACCATACATTTGCCCTTGGTG -3'
Posted On 2020-01-23