Incidental Mutation 'R0681:Gm13078'
ID60959
Institutional Source Beutler Lab
Gene Symbol Gm13078
Ensembl Gene ENSMUSG00000046435
Gene Namepredicted gene 13078
Synonyms
MMRRC Submission 038866-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #R0681 (G1)
Quality Score119
Status Validated
Chromosome4
Chromosomal Location143719455-143729158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 143728052 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 307 (T307S)
Ref Sequence ENSEMBL: ENSMUSP00000077761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078695]
Predicted Effect probably benign
Transcript: ENSMUST00000078695
AA Change: T307S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: T307S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 4e-12 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 G T 8: 83,934,650 probably benign Het
Adgrv1 C A 13: 81,528,530 D1341Y probably damaging Het
Ahdc1 T C 4: 133,065,516 F1356S possibly damaging Het
BC027072 T G 17: 71,749,514 H1056P probably benign Het
Cdk13 A G 13: 17,721,297 probably benign Het
Cfhr1 A T 1: 139,557,511 S66T probably damaging Het
Cldn6 C A 17: 23,681,193 Q44K probably damaging Het
Cntnap5c T C 17: 58,305,555 V863A possibly damaging Het
Col6a4 T A 9: 106,067,144 K1044* probably null Het
Cyb561d1 A G 3: 108,199,267 V212A probably benign Het
Cyp1b1 A G 17: 79,713,846 S156P probably damaging Het
Dock7 G A 4: 99,016,704 H645Y probably damaging Het
Dpp3 T C 19: 4,914,654 N542D probably damaging Het
Fastkd3 C T 13: 68,591,928 probably benign Het
Galnt10 T A 11: 57,769,540 V268D probably damaging Het
Grb14 G T 2: 64,917,287 A10E probably damaging Het
Grin2c A G 11: 115,249,653 V1213A probably benign Het
Grip1 C T 10: 120,010,230 T570I probably damaging Het
Hif1an T C 19: 44,563,323 Y71H probably benign Het
Hsd17b11 T A 5: 104,003,206 I221L probably benign Het
Htra1 A T 7: 130,979,297 probably benign Het
Igfn1 T C 1: 135,963,853 E2308G possibly damaging Het
Mapk9 T A 11: 49,869,245 S129T probably damaging Het
Med22 T C 2: 26,910,379 T13A probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mtus1 A T 8: 40,993,517 L489Q probably damaging Het
Naprt G A 15: 75,893,632 P120S probably damaging Het
Nwd1 C T 8: 72,662,337 P172L probably damaging Het
Ogfod2 A G 5: 124,112,844 E62G probably null Het
Olfr1445 T C 19: 12,884,079 L66P probably damaging Het
Olfr1445 A G 19: 12,884,546 T222A probably damaging Het
Olfr211 A T 6: 116,494,400 S264C probably damaging Het
Palm A C 10: 79,819,493 T362P probably benign Het
Pcdh8 T C 14: 79,769,960 T388A probably benign Het
Pclo A G 5: 14,675,318 I1397V unknown Het
Per1 A G 11: 69,101,201 E127G probably damaging Het
Plekha1 T C 7: 130,900,623 V30A possibly damaging Het
Rab26 A G 17: 24,527,966 probably benign Het
Rasal2 T C 1: 157,157,180 D999G possibly damaging Het
Rfx5 C T 3: 94,956,355 T105I probably damaging Het
Rrp1b T C 17: 32,060,395 S677P probably damaging Het
Scaf4 G A 16: 90,249,694 P485S unknown Het
Scn5a A T 9: 119,539,640 M273K probably damaging Het
Sec22a C T 16: 35,361,556 probably null Het
Slc10a6 C A 5: 103,612,449 V227F possibly damaging Het
Slc39a3 C G 10: 81,033,731 E31Q probably benign Het
Spsb1 C T 4: 149,906,917 V65I probably benign Het
Tdrd7 T A 4: 46,016,879 M673K probably benign Het
Trim8 C A 19: 46,515,093 S361R possibly damaging Het
Ucp1 T A 8: 83,295,307 M256K possibly damaging Het
Vmn1r46 A T 6: 89,976,964 D265V probably damaging Het
Zbtb5 T C 4: 44,993,787 I532M probably damaging Het
Other mutations in Gm13078
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Gm13078 APN 4 143727015 missense probably damaging 1.00
IGL01122:Gm13078 APN 4 143728401 missense probably benign 0.13
IGL02314:Gm13078 APN 4 143728442 missense probably benign 0.00
IGL03089:Gm13078 APN 4 143726133 missense probably benign 0.43
IGL03338:Gm13078 APN 4 143726742 missense probably benign 0.01
R0233:Gm13078 UTSW 4 143726063 missense possibly damaging 0.71
R0233:Gm13078 UTSW 4 143726063 missense possibly damaging 0.71
R0349:Gm13078 UTSW 4 143727059 missense probably benign 0.00
R0963:Gm13078 UTSW 4 143727108 missense possibly damaging 0.50
R1114:Gm13078 UTSW 4 143726855 missense probably benign 0.01
R2070:Gm13078 UTSW 4 143726902 nonsense probably null
R2475:Gm13078 UTSW 4 143726825 missense probably benign 0.14
R3824:Gm13078 UTSW 4 143726685 missense probably benign 0.00
R4050:Gm13078 UTSW 4 143727122 missense probably benign 0.01
R4125:Gm13078 UTSW 4 143726280 nonsense probably null
R4273:Gm13078 UTSW 4 143726846 nonsense probably null
R4280:Gm13078 UTSW 4 143726022 missense possibly damaging 0.94
R4921:Gm13078 UTSW 4 143728326 missense possibly damaging 0.95
R5223:Gm13078 UTSW 4 143728021 missense probably benign 0.00
R7256:Gm13078 UTSW 4 143726279 missense probably benign 0.23
R7640:Gm13078 UTSW 4 143726706 missense probably benign 0.00
R7666:Gm13078 UTSW 4 143728515 missense probably benign 0.00
R7683:Gm13078 UTSW 4 143726714 nonsense probably null
Z1088:Gm13078 UTSW 4 143727033 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCAGGGAGCAACTTGGCCTTGAC -3'
(R):5'- AAATCGACTTCAGTGAGCTGGGAAC -3'

Sequencing Primer
(F):5'- GCCTTGACCCTTATAATGGTCTGAG -3'
(R):5'- ACTGATTTGCCAGTCCATGAG -3'
Posted On2013-07-30