Incidental Mutation 'R6455:Gm5141'
ID519570
Institutional Source Beutler Lab
Gene Symbol Gm5141
Ensembl Gene ENSMUSG00000091183
Gene Namepredicted gene 5141
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R6455 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location62772200-62785808 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 62774783 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 191 (C191S)
Ref Sequence ENSEMBL: ENSMUSP00000144368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167516] [ENSMUST00000201047]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116696
Predicted Effect probably damaging
Transcript: ENSMUST00000167516
AA Change: C190S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126604
Gene: ENSMUSG00000091183
AA Change: C190S

DomainStartEndE-ValueType
KRAB 3 65 2.32e-19 SMART
ZnF_C2H2 132 154 1.51e0 SMART
ZnF_C2H2 160 182 6.52e-5 SMART
ZnF_C2H2 188 210 5.42e-2 SMART
ZnF_C2H2 216 238 1.84e-4 SMART
ZnF_C2H2 244 266 1.3e-4 SMART
ZnF_C2H2 272 294 1.22e-4 SMART
ZnF_C2H2 300 322 1.82e-3 SMART
ZnF_C2H2 328 350 2.79e-4 SMART
ZnF_C2H2 356 378 3.89e-3 SMART
ZnF_C2H2 384 406 4.94e-5 SMART
ZnF_C2H2 412 434 5.67e-5 SMART
ZnF_C2H2 440 462 7.49e-5 SMART
ZnF_C2H2 468 490 5.21e-4 SMART
ZnF_C2H2 496 518 4.87e-4 SMART
ZnF_C2H2 524 546 1.22e-4 SMART
ZnF_C2H2 552 574 1.18e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179519
Predicted Effect probably damaging
Transcript: ENSMUST00000201047
AA Change: C191S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144368
Gene: ENSMUSG00000091183
AA Change: C191S

DomainStartEndE-ValueType
KRAB 4 66 9.8e-22 SMART
ZnF_C2H2 133 155 6.5e-3 SMART
ZnF_C2H2 161 183 2.7e-7 SMART
ZnF_C2H2 189 211 2.4e-4 SMART
ZnF_C2H2 217 239 8.1e-7 SMART
ZnF_C2H2 245 267 5.6e-7 SMART
ZnF_C2H2 273 295 5.1e-7 SMART
ZnF_C2H2 301 323 7.9e-6 SMART
ZnF_C2H2 329 351 1.2e-6 SMART
ZnF_C2H2 357 379 1.7e-5 SMART
ZnF_C2H2 385 407 2.1e-7 SMART
ZnF_C2H2 413 435 2.4e-7 SMART
ZnF_C2H2 441 463 3.2e-7 SMART
ZnF_C2H2 469 491 2.2e-6 SMART
ZnF_C2H2 497 519 2.2e-6 SMART
ZnF_C2H2 525 547 5.4e-7 SMART
ZnF_C2H2 553 575 4.9e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202582
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230110F15Rik T A 9: 35,844,055 K3* probably null Het
A430078G23Rik A T 8: 3,388,753 Y370F probably benign Het
Abca1 T C 4: 53,042,376 R1899G probably damaging Het
Abca6 C T 11: 110,241,581 G296D probably damaging Het
Abcb5 A T 12: 118,890,549 probably null Het
Adam28 T G 14: 68,633,208 T339P probably damaging Het
Adcy10 C G 1: 165,518,374 Q331E probably damaging Het
Aldh1a2 A T 9: 71,252,914 probably null Het
Alms1 T A 6: 85,696,657 I3078N probably damaging Het
Amtn A T 5: 88,380,280 N71Y probably damaging Het
Arid4a T C 12: 71,075,088 S748P probably benign Het
Atp2b1 C A 10: 99,016,980 Q108K possibly damaging Het
Bcdin3d T C 15: 99,470,949 D123G probably benign Het
Capn15 A G 17: 25,965,436 S24P probably damaging Het
Cc2d2a T A 5: 43,739,412 S1550R possibly damaging Het
Ccdc7a C T 8: 128,832,610 V1174M probably damaging Het
Cd22 T A 7: 30,876,153 I155F probably damaging Het
Ceacam3 T C 7: 17,161,938 I611T possibly damaging Het
Chrna1 C T 2: 73,566,836 D370N possibly damaging Het
Diexf G T 1: 193,128,376 D106E probably benign Het
Dlg2 C A 7: 92,444,508 probably null Het
Dll4 A T 2: 119,333,795 probably null Het
Eif5b T C 1: 38,019,027 S137P probably benign Het
Epn2 A T 11: 61,533,641 M250K probably damaging Het
Fat2 T A 11: 55,270,457 Q3149L probably damaging Het
Fbxl13 G A 5: 21,556,814 S341F probably benign Het
Gm15922 T A 7: 3,738,931 Y150F probably benign Het
Gm5150 C T 3: 15,990,651 G137S probably damaging Het
Gm5346 T A 8: 43,626,152 H345L probably damaging Het
Gpr75 C T 11: 30,891,529 R145W probably damaging Het
Heatr5b G A 17: 78,753,073 H2058Y probably benign Het
Ina G A 19: 47,023,561 E473K probably benign Het
Irx6 T C 8: 92,676,072 S22P probably benign Het
Itpr1 T A 6: 108,417,972 M32K probably damaging Het
Jmjd1c T A 10: 67,226,016 S1383T probably benign Het
Lclat1 T A 17: 73,161,833 S3T probably damaging Het
Llgl1 G A 11: 60,709,660 V612M probably damaging Het
Mios A G 6: 8,231,239 R708G probably benign Het
Mphosph8 T C 14: 56,688,486 L636P probably damaging Het
Mrgpra2b T A 7: 47,464,145 N254Y probably damaging Het
Myo7a C T 7: 98,073,167 V1184M probably benign Het
Myog G A 1: 134,290,488 D145N probably benign Het
Nat10 T A 2: 103,739,886 I371F possibly damaging Het
Neb A T 2: 52,167,644 Y229* probably null Het
Nlrp6 T A 7: 140,927,509 I896K possibly damaging Het
Olfr235 T C 19: 12,268,706 S159P probably damaging Het
Olfr551 G A 7: 102,588,671 A24V probably benign Het
Olfr740 A T 14: 50,453,585 I178L possibly damaging Het
Pcdhgc5 A C 18: 37,821,248 E525A probably damaging Het
Pkd2 C A 5: 104,459,924 D96E probably benign Het
Prtg A G 9: 72,907,856 D1022G probably damaging Het
Ptpn13 T C 5: 103,541,284 M981T probably benign Het
Rc3h2 C A 2: 37,409,470 A183S probably damaging Het
Rorb A T 19: 18,960,492 I270N probably damaging Het
Rpgrip1 C T 14: 52,141,189 R524W probably damaging Het
Slc25a10 T C 11: 120,495,205 V124A probably damaging Het
Slc40a1 T A 1: 45,918,947 I109F probably damaging Het
Spen G A 4: 141,475,509 R1936W probably damaging Het
St6gal2 T A 17: 55,482,513 Y183N probably benign Het
Svil A G 18: 5,056,629 K588E possibly damaging Het
Tas2r122 C T 6: 132,711,663 W89* probably null Het
Tbxas1 T A 6: 38,952,145 probably benign Het
Tia1 T A 6: 86,420,378 I111N probably damaging Het
Tlr9 T A 9: 106,223,999 L163H probably damaging Het
Tnn C T 1: 160,114,719 V806M probably damaging Het
Traf5 G A 1: 191,999,926 A318V probably benign Het
Ttc3 T A 16: 94,418,623 M1K probably null Het
Vmn1r192 T A 13: 22,187,830 R73S probably benign Het
Vmn1r71 T C 7: 10,748,404 Y53C probably benign Het
Vmn2r34 T A 7: 7,683,583 N372Y probably damaging Het
Wbp2 A T 11: 116,079,753 S229R probably damaging Het
Wdr18 C T 10: 79,965,281 T176I probably damaging Het
Other mutations in Gm5141
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0220:Gm5141 UTSW 13 62774457 missense probably damaging 1.00
R0427:Gm5141 UTSW 13 62774711 missense probably damaging 1.00
R0534:Gm5141 UTSW 13 62774594 missense probably damaging 1.00
R0652:Gm5141 UTSW 13 62774132 missense probably damaging 1.00
R1495:Gm5141 UTSW 13 62774270 missense probably damaging 1.00
R2079:Gm5141 UTSW 13 62774610 missense probably benign 0.06
R4780:Gm5141 UTSW 13 62774950 missense unknown
R5588:Gm5141 UTSW 13 62773770 missense probably benign 0.06
R6292:Gm5141 UTSW 13 62774438 missense probably damaging 1.00
R6605:Gm5141 UTSW 13 62774387 missense probably damaging 1.00
R7091:Gm5141 UTSW 13 62773964 missense possibly damaging 0.80
R7199:Gm5141 UTSW 13 62777063 missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGGAGGTGAAAGTGTCGTGA -3'
(R):5'- AAAGCTCTCACATGTGCCAT -3'

Sequencing Primer
(F):5'- GGAGACTACCTTTCTCTGAAAAGGC -3'
(R):5'- AAGATCCCCTCTGAAGTTATTCACTG -3'
Posted On2018-05-24