Incidental Mutation 'IGL00484:Gm12794'
ID6622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12794
Ensembl Gene ENSMUSG00000070890
Gene Namepredicted gene 12794
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL00484
Quality Score
Status
Chromosome4
Chromosomal Location101940407-101943183 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101941701 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 290 (F290L)
Ref Sequence ENSEMBL: ENSMUSP00000051550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052027]
Predicted Effect probably benign
Transcript: ENSMUST00000052027
AA Change: F290L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: F290L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 257 409 9e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik T C 16: 8,831,311 probably benign Het
Adgra1 A G 7: 139,875,944 Q496R probably benign Het
Ankrd17 A T 5: 90,268,361 S1151T probably damaging Het
Ankrd55 A G 13: 112,367,794 K330R probably benign Het
Anln A T 9: 22,360,824 Y666* probably null Het
Atp1a2 A G 1: 172,276,002 W984R probably damaging Het
Atp8b3 G T 10: 80,526,164 probably benign Het
Casc3 A G 11: 98,823,202 E420G possibly damaging Het
Cep250 G A 2: 155,991,329 D1724N probably benign Het
Dhx15 T G 5: 52,166,812 E379D probably benign Het
Dock1 T A 7: 135,146,531 probably benign Het
Exph5 C T 9: 53,376,706 Q1696* probably null Het
Fkbp6 C A 5: 135,339,948 A213S possibly damaging Het
Fndc4 A G 5: 31,293,496 probably benign Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Glmp T A 3: 88,325,862 probably null Het
Gm13101 G A 4: 143,966,614 probably benign Het
Hist1h2an G T 13: 21,786,921 R100S probably benign Het
Ighv1-19 G A 12: 114,708,709 T97I probably benign Het
Kdm6b T C 11: 69,406,306 S407G possibly damaging Het
Lrp1b T C 2: 41,110,861 Y2231C probably damaging Het
Lyst T A 13: 13,709,603 S2999T probably benign Het
Lztr1 T C 16: 17,517,450 probably benign Het
N4bp2 T C 5: 65,807,524 V972A probably damaging Het
Ncoa6 A T 2: 155,406,208 S1725R probably damaging Het
Nfkbiz A G 16: 55,817,909 V396A probably benign Het
Nup205 A G 6: 35,214,802 Q1074R probably damaging Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Peli1 T A 11: 21,146,952 V114E probably damaging Het
Phf20l1 T G 15: 66,615,633 probably benign Het
Pik3r1 A C 13: 101,701,747 I267S probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppl A G 16: 5,087,952 I1493T probably benign Het
Prg3 A G 2: 84,988,747 I6V probably benign Het
Ptprg T C 14: 12,215,220 V1069A probably damaging Het
Rasal2 A T 1: 157,174,175 probably null Het
Slc36a2 A T 11: 55,162,788 Y341* probably null Het
Smim4 T A 14: 31,088,922 probably benign Het
Snapc3 A G 4: 83,436,396 I215V probably damaging Het
Srrm2 T A 17: 23,818,518 S1475T probably benign Het
Sycp2 A T 2: 178,382,348 D414E probably damaging Het
Tanc1 A G 2: 59,793,176 T468A probably benign Het
Tfap2d A G 1: 19,142,881 T310A probably benign Het
Tgfbr2 T A 9: 116,158,289 I51F probably benign Het
Trip11 A T 12: 101,885,311 C546* probably null Het
Ttbk2 C T 2: 120,773,886 W210* probably null Het
Upk1b T G 16: 38,780,016 N201H possibly damaging Het
Ush2a A T 1: 188,782,513 T3180S probably benign Het
Vps13d T G 4: 145,126,575 Q2323P probably benign Het
Zfp810 A T 9: 22,278,309 Y434* probably null Het
Other mutations in Gm12794
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Gm12794 APN 4 101940468 missense possibly damaging 0.94
IGL01837:Gm12794 APN 4 101941453 missense probably damaging 1.00
IGL01870:Gm12794 APN 4 101940690 missense probably benign 0.03
IGL02040:Gm12794 APN 4 101941134 missense possibly damaging 0.94
IGL03264:Gm12794 APN 4 101941132 missense probably damaging 0.99
R0033:Gm12794 UTSW 4 101941684 missense probably benign
R0334:Gm12794 UTSW 4 101941584 missense probably benign 0.01
R0846:Gm12794 UTSW 4 101941250 missense probably benign 0.00
R1464:Gm12794 UTSW 4 101941306 missense probably damaging 0.97
R1464:Gm12794 UTSW 4 101941306 missense probably damaging 0.97
R1774:Gm12794 UTSW 4 101940458 missense probably benign 0.27
R1888:Gm12794 UTSW 4 101941138 missense probably damaging 0.99
R1888:Gm12794 UTSW 4 101941138 missense probably damaging 0.99
R4510:Gm12794 UTSW 4 101941560 missense probably benign 0.00
R4511:Gm12794 UTSW 4 101941560 missense probably benign 0.00
R4890:Gm12794 UTSW 4 101941591 missense probably damaging 0.99
R4960:Gm12794 UTSW 4 101941464 missense probably benign
R5043:Gm12794 UTSW 4 101940524 missense possibly damaging 0.89
R5297:Gm12794 UTSW 4 101941151 missense possibly damaging 0.46
R5780:Gm12794 UTSW 4 101941527 missense probably damaging 1.00
R5957:Gm12794 UTSW 4 101941701 missense probably benign 0.02
R6409:Gm12794 UTSW 4 101940677 nonsense probably null
R6452:Gm12794 UTSW 4 101941443 missense probably benign 0.02
R7619:Gm12794 UTSW 4 101941300 missense probably benign 0.01
Z1177:Gm12794 UTSW 4 101941125 nonsense probably null
Posted On2012-04-20