Incidental Mutation 'R4991:Gm13212'
ID455801
Institutional Source Beutler Lab
Gene Symbol Gm13212
Ensembl Gene ENSMUSG00000078502
Gene Namepredicted gene 13212
Synonyms
MMRRC Submission 042585-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock #R4991 (G1)
Quality Score52
Status Validated
Chromosome4
Chromosomal Location145585166-145625345 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 145622334 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 114 (Q114K)
Ref Sequence ENSEMBL: ENSMUSP00000112918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097794] [ENSMUST00000105739] [ENSMUST00000119718]
Predicted Effect probably benign
Transcript: ENSMUST00000097794
AA Change: Q114K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095402
Gene: ENSMUSG00000078502
AA Change: Q114K

DomainStartEndE-ValueType
KRAB 13 72 3.23e-18 SMART
ZnF_C2H2 238 260 1.69e-3 SMART
ZnF_C2H2 266 288 1.18e-2 SMART
ZnF_C2H2 294 316 1.3e-4 SMART
ZnF_C2H2 322 344 1.58e-3 SMART
ZnF_C2H2 350 372 4.24e-4 SMART
ZnF_C2H2 378 400 1.06e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105739
AA Change: Q114K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101365
Gene: ENSMUSG00000078502
AA Change: Q114K

DomainStartEndE-ValueType
KRAB 13 72 3.23e-18 SMART
ZnF_C2H2 238 260 1.69e-3 SMART
ZnF_C2H2 266 288 1.18e-2 SMART
ZnF_C2H2 294 316 1.3e-4 SMART
ZnF_C2H2 322 344 1.58e-3 SMART
ZnF_C2H2 350 372 4.24e-4 SMART
ZnF_C2H2 378 400 1.06e-4 SMART
ZnF_C2H2 406 428 1.58e-3 SMART
ZnF_C2H2 434 456 3.39e-3 SMART
ZnF_C2H2 462 484 1.06e-4 SMART
ZnF_C2H2 490 512 1.58e-3 SMART
ZnF_C2H2 518 540 3.39e-3 SMART
ZnF_C2H2 546 568 3.39e-3 SMART
ZnF_C2H2 574 596 3.39e-3 SMART
ZnF_C2H2 602 624 3.39e-3 SMART
ZnF_C2H2 630 652 1.06e-4 SMART
ZnF_C2H2 658 680 1.58e-3 SMART
ZnF_C2H2 686 708 3.39e-3 SMART
ZnF_C2H2 714 736 1.3e-4 SMART
ZnF_C2H2 742 764 1.3e-4 SMART
ZnF_C2H2 770 792 4.79e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119718
AA Change: Q114K

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112918
Gene: ENSMUSG00000078502
AA Change: Q114K

DomainStartEndE-ValueType
KRAB 13 72 3.23e-18 SMART
internal_repeat_1 141 211 2.19e-13 PROSPERO
ZnF_C2H2 238 260 1.69e-3 SMART
ZnF_C2H2 266 288 1.18e-2 SMART
low complexity region 320 335 N/A INTRINSIC
low complexity region 350 357 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180968
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.0%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G T 14: 55,773,465 T665K probably benign Het
Adgrf3 C T 5: 30,199,148 V369M probably benign Het
Als2 T C 1: 59,207,768 K571E probably benign Het
Amer3 A C 1: 34,588,741 D687A probably benign Het
Asb14 T C 14: 26,915,058 S586P probably damaging Het
Chmp4b A G 2: 154,692,625 E187G probably benign Het
Cox6b2 T C 7: 4,752,161 D38G probably damaging Het
Cpm G A 10: 117,668,103 C138Y probably damaging Het
Csmd3 G T 15: 48,001,478 P785Q probably damaging Het
Cstf1 A G 2: 172,377,800 Y277C probably damaging Het
Cstf2t T A 19: 31,084,583 N506K probably damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Ebf2 A T 14: 67,389,657 T265S possibly damaging Het
Elmo1 T C 13: 20,342,519 F413S probably damaging Het
Fbp1 C T 13: 62,865,074 V102I probably benign Het
Gm14548 T G 7: 3,895,572 Q292H probably benign Het
Gm16432 A C 1: 178,098,421 I218L probably benign Het
Gm19684 A G 17: 36,127,472 probably benign Het
Gm29106 T C 1: 118,178,391 M37T probably benign Het
Grem2 A G 1: 174,836,813 C157R probably damaging Het
Hdac5 T A 11: 102,205,624 E252D probably damaging Het
Ifitm3 A T 7: 141,010,459 F63I probably damaging Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Irx4 G T 13: 73,265,507 R32L probably benign Het
Itgb1bp1 C T 12: 21,274,848 G69D probably damaging Het
Kcnh3 A G 15: 99,232,756 D418G probably benign Het
Kif1a T C 1: 93,078,808 T46A probably benign Het
Klk1b26 T A 7: 44,016,249 probably null Het
Lca5l T C 16: 96,159,732 E510G possibly damaging Het
Lrriq1 A G 10: 103,200,559 I911T probably damaging Het
Mios T G 6: 8,215,847 S348A probably benign Het
Mog T C 17: 37,017,489 probably null Het
Mtmr7 A G 8: 40,554,345 S516P probably damaging Het
Nat8f4 T C 6: 85,901,140 K134E probably benign Het
Nbeal2 C T 9: 110,638,767 C451Y probably damaging Het
Nkx2-1 T C 12: 56,534,939 Y41C possibly damaging Het
Nmnat1 G A 4: 149,469,127 T176M possibly damaging Het
Nrxn3 T A 12: 89,260,474 I293N probably damaging Het
Olfr1031 A G 2: 85,992,287 M157V probably damaging Het
Olfr1447 T G 19: 12,901,451 T110P probably damaging Het
Olfr313 T C 11: 58,817,718 S237P probably damaging Het
Osgin1 A G 8: 119,445,289 E274G probably damaging Het
Otof G A 5: 30,394,181 R343W probably damaging Het
Pcdha9 A T 18: 36,998,345 I156F probably damaging Het
Pcsk4 A G 10: 80,325,381 I233T possibly damaging Het
Samd4 A T 14: 47,074,010 S262C probably damaging Het
Snap91 T C 9: 86,790,154 probably null Het
Spata31d1a T C 13: 59,703,151 N388D probably benign Het
St3gal4 A G 9: 35,053,136 V190A possibly damaging Het
Sv2b T C 7: 75,117,722 N642S possibly damaging Het
Svil T A 18: 5,056,810 I561K probably benign Het
Tmem201 A T 4: 149,728,155 Y235N possibly damaging Het
Tpx2 T C 2: 152,869,724 S60P probably benign Het
Trpa1 T C 1: 14,910,746 Y144C probably benign Het
U90926 G A 5: 92,210,020 P91S probably benign Het
Utp20 G T 10: 88,746,934 H2780Q probably benign Het
Vmn1r215 T G 13: 23,076,527 F246V probably damaging Het
Vmn2r72 A G 7: 85,751,130 L237S probably damaging Het
Washc5 A G 15: 59,344,080 S817P probably damaging Het
Zbtb24 A G 10: 41,456,618 probably null Het
Zfp212 G A 6: 47,926,862 R127H probably damaging Het
Zfp740 G T 15: 102,208,279 probably null Het
Other mutations in Gm13212
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01797:Gm13212 APN 4 145620671 missense probably damaging 0.98
IGL02678:Gm13212 APN 4 145622497 missense probably damaging 1.00
IGL03035:Gm13212 APN 4 145622232 missense possibly damaging 0.77
BB008:Gm13212 UTSW 4 145622556 missense possibly damaging 0.49
BB018:Gm13212 UTSW 4 145622556 missense possibly damaging 0.49
R0090:Gm13212 UTSW 4 145622625 nonsense probably null
R0904:Gm13212 UTSW 4 145622175 missense possibly damaging 0.95
R1617:Gm13212 UTSW 4 145624307 utr 3 prime probably benign
R1851:Gm13212 UTSW 4 145624250 unclassified probably benign
R1864:Gm13212 UTSW 4 145622428 missense possibly damaging 0.92
R2093:Gm13212 UTSW 4 145622569 missense probably benign 0.02
R2132:Gm13212 UTSW 4 145624233 unclassified probably benign
R2240:Gm13212 UTSW 4 145585321 start gained probably benign
R4177:Gm13212 UTSW 4 145620655 missense probably damaging 1.00
R4584:Gm13212 UTSW 4 145617177 critical splice donor site probably null
R5164:Gm13212 UTSW 4 145622205 missense probably damaging 1.00
R6175:Gm13212 UTSW 4 145624241 unclassified probably benign
R6176:Gm13212 UTSW 4 145624058 nonsense probably null
R6498:Gm13212 UTSW 4 145622889 missense probably damaging 0.98
R6984:Gm13212 UTSW 4 145620616 missense probably damaging 1.00
R7134:Gm13212 UTSW 4 145622805 missense possibly damaging 0.93
R7931:Gm13212 UTSW 4 145622556 missense possibly damaging 0.49
R8017:Gm13212 UTSW 4 145622568 missense probably benign 0.28
R8282:Gm13212 UTSW 4 145622977 missense possibly damaging 0.94
V5622:Gm13212 UTSW 4 145585321 start gained probably benign
Z1176:Gm13212 UTSW 4 145622968 missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- ATGTCACCTCTAATTGCCCC -3'
(R):5'- TCGTTTCACCATGACTTTATGTTTA -3'

Sequencing Primer
(F):5'- CAGAAAATCATTGCATATGTGGAAAG -3'
(R):5'- AGAAACAAAAACCTTCTCAAATTCTG -3'
Posted On2017-02-14