Incidental Mutation 'R0347:Gm12185'
ID 38465
Institutional Source Beutler Lab
Gene Symbol Gm12185
Ensembl Gene ENSMUSG00000048852
Gene Name predicted gene 12185
Synonyms
MMRRC Submission 038554-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0347 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 48795483-48818009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48806009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 394 (E394G)
Ref Sequence ENSEMBL: ENSMUSP00000092049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000094476]
AlphaFold Q5NCB2
Predicted Effect probably benign
Transcript: ENSMUST00000059930
AA Change: E394G

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: E394G

DomainStartEndE-ValueType
Pfam:IIGP 27 389 8.4e-123 PFAM
Pfam:MMR_HSR1 63 190 2.2e-9 PFAM
low complexity region 421 432 N/A INTRINSIC
Pfam:IIGP 438 811 3.4e-152 PFAM
Pfam:MMR_HSR1 474 632 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094476
AA Change: E394G

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: E394G

DomainStartEndE-ValueType
Pfam:IIGP 27 389 1e-122 PFAM
Pfam:DLIC 43 98 3.2e-5 PFAM
Pfam:MMR_HSR1 63 187 6e-9 PFAM
low complexity region 421 432 N/A INTRINSIC
Pfam:IIGP 438 811 8.9e-153 PFAM
Pfam:MMR_HSR1 474 615 2.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129318
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,913,748 (GRCm39) E908G probably benign Het
Abcb5 T A 12: 118,928,986 (GRCm39) probably benign Het
Adhfe1 T A 1: 9,623,655 (GRCm39) F102Y probably benign Het
Aff4 A G 11: 53,290,915 (GRCm39) Y625C probably benign Het
Alox5 T C 6: 116,390,513 (GRCm39) E488G possibly damaging Het
Ankmy2 T C 12: 36,243,753 (GRCm39) C323R probably damaging Het
Ankrd28 A G 14: 31,423,979 (GRCm39) *1084R probably null Het
Apol10a A T 15: 77,372,891 (GRCm39) I176F probably damaging Het
Arhgap26 C T 18: 38,750,797 (GRCm39) T70I unknown Het
Arid2 A G 15: 96,268,833 (GRCm39) N982S probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camsap3 A G 8: 3,652,029 (GRCm39) D291G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdc20b G T 13: 113,196,361 (GRCm39) G162V probably damaging Het
Cep44 T G 8: 56,998,510 (GRCm39) E56A probably damaging Het
Cfap410 A T 10: 77,820,256 (GRCm39) I209F probably damaging Het
Cfap65 A G 1: 74,965,603 (GRCm39) L469P probably damaging Het
Cilp T A 9: 65,187,435 (GRCm39) C1177S probably benign Het
Ctnnbip1 C T 4: 149,630,211 (GRCm39) P7S probably damaging Het
Cyp11a1 T C 9: 57,923,543 (GRCm39) probably benign Het
Cyp3a11 C T 5: 145,802,735 (GRCm39) V253M possibly damaging Het
D630045J12Rik C A 6: 38,158,327 (GRCm39) V1117L probably damaging Het
Dnah7b T A 1: 46,280,104 (GRCm39) S2678T probably damaging Het
Dock1 T C 7: 134,365,596 (GRCm39) I428T probably damaging Het
Fam83f A G 15: 80,556,458 (GRCm39) D114G probably damaging Het
Flt3 T A 5: 147,294,802 (GRCm39) N423I probably damaging Het
Fnbp1l A T 3: 122,383,824 (GRCm39) F31L probably damaging Het
Glrx3 G A 7: 137,039,430 (GRCm39) E10K unknown Het
Gpatch1 C T 7: 34,997,056 (GRCm39) V381M probably benign Het
Grm8 T C 6: 27,981,221 (GRCm39) S230G probably benign Het
Heyl A T 4: 123,127,733 (GRCm39) D25V probably benign Het
Junb G A 8: 85,705,107 (GRCm39) probably benign Het
Klhl29 C A 12: 5,134,354 (GRCm39) V747F probably damaging Het
Krt77 T C 15: 101,768,304 (GRCm39) H569R unknown Het
Ldhb T C 6: 142,439,859 (GRCm39) N227S probably benign Het
Megf6 A G 4: 154,339,092 (GRCm39) D543G possibly damaging Het
Mrps23 A T 11: 88,101,519 (GRCm39) Q136L probably benign Het
Myh2 C T 11: 67,076,130 (GRCm39) probably benign Het
Nadk2 T A 15: 9,084,287 (GRCm39) D133E probably benign Het
Neurod4 G A 10: 130,106,980 (GRCm39) T98I probably damaging Het
Nfatc2 G T 2: 168,378,210 (GRCm39) T465K probably damaging Het
Nipbl A G 15: 8,380,216 (GRCm39) S859P probably benign Het
Nipsnap3a T C 4: 52,997,155 (GRCm39) probably benign Het
Nlrp4c A G 7: 6,069,415 (GRCm39) K439E possibly damaging Het
Or10q3 A T 19: 11,847,797 (GRCm39) L261H probably damaging Het
Or1e32 C T 11: 73,705,137 (GRCm39) G257D probably damaging Het
Or2a20 T C 6: 43,194,296 (GRCm39) F150L probably benign Het
Pds5b T A 5: 150,659,892 (GRCm39) probably benign Het
Pira13 A T 7: 3,825,873 (GRCm39) V332E probably damaging Het
Plch1 A G 3: 63,660,737 (GRCm39) M282T probably damaging Het
Plch2 C A 4: 155,071,178 (GRCm39) R1067L possibly damaging Het
Polr1has T A 17: 37,276,207 (GRCm39) M114K probably damaging Het
Pou2f2 A C 7: 24,797,126 (GRCm39) F206V probably damaging Het
Prss50 A G 9: 110,691,418 (GRCm39) I49V probably damaging Het
Rexo5 T A 7: 119,423,119 (GRCm39) probably null Het
Rgl2 C T 17: 34,151,712 (GRCm39) T252I probably damaging Het
Rp1l1 A T 14: 64,268,253 (GRCm39) K1280* probably null Het
Rpl24 T A 16: 55,790,540 (GRCm39) probably null Het
Satb1 T A 17: 52,046,934 (GRCm39) K763* probably null Het
Scart2 T A 7: 139,877,767 (GRCm39) H800Q probably damaging Het
Sema6a T A 18: 47,424,196 (GRCm39) R237S probably damaging Het
Spg11 T C 2: 121,927,850 (GRCm39) T645A probably damaging Het
Srrt T A 5: 137,297,938 (GRCm39) probably benign Het
Tanc1 T C 2: 59,673,335 (GRCm39) V1480A probably benign Het
Tbc1d2 T C 4: 46,620,574 (GRCm39) D412G possibly damaging Het
Tecrl T C 5: 83,442,479 (GRCm39) E198G probably damaging Het
Tigd4 A G 3: 84,501,167 (GRCm39) D28G probably damaging Het
Trp53bp2 T G 1: 182,269,213 (GRCm39) L226V probably benign Het
Ttll13 T C 7: 79,910,253 (GRCm39) S799P possibly damaging Het
Vps13c A T 9: 67,817,515 (GRCm39) Q1062H possibly damaging Het
Wnt10a T G 1: 74,832,702 (GRCm39) H98Q probably damaging Het
Zbtb47 C T 9: 121,592,168 (GRCm39) P198S probably damaging Het
Zfp959 T A 17: 56,204,180 (GRCm39) Y69* probably null Het
Other mutations in Gm12185
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Gm12185 APN 11 48,798,049 (GRCm39) missense probably benign 0.01
IGL00495:Gm12185 APN 11 48,798,688 (GRCm39) missense probably damaging 0.99
IGL01763:Gm12185 APN 11 48,806,671 (GRCm39) missense probably benign 0.07
IGL01919:Gm12185 APN 11 48,798,886 (GRCm39) missense possibly damaging 0.90
IGL03388:Gm12185 APN 11 48,799,113 (GRCm39) missense probably benign 0.01
IGL03404:Gm12185 APN 11 48,798,864 (GRCm39) missense probably damaging 1.00
PIT4458001:Gm12185 UTSW 11 48,798,738 (GRCm39) missense probably damaging 1.00
R0488:Gm12185 UTSW 11 48,798,666 (GRCm39) missense probably damaging 1.00
R1168:Gm12185 UTSW 11 48,806,182 (GRCm39) missense possibly damaging 0.60
R1223:Gm12185 UTSW 11 48,798,103 (GRCm39) missense probably damaging 0.98
R1417:Gm12185 UTSW 11 48,798,669 (GRCm39) missense probably damaging 1.00
R1468:Gm12185 UTSW 11 48,806,501 (GRCm39) missense possibly damaging 0.60
R1468:Gm12185 UTSW 11 48,806,501 (GRCm39) missense possibly damaging 0.60
R1519:Gm12185 UTSW 11 48,798,594 (GRCm39) missense probably damaging 1.00
R1558:Gm12185 UTSW 11 48,806,262 (GRCm39) missense probably damaging 0.99
R1630:Gm12185 UTSW 11 48,798,717 (GRCm39) missense probably benign 0.31
R1758:Gm12185 UTSW 11 48,798,859 (GRCm39) missense possibly damaging 0.82
R1793:Gm12185 UTSW 11 48,806,583 (GRCm39) nonsense probably null
R1908:Gm12185 UTSW 11 48,806,231 (GRCm39) missense probably benign 0.00
R1983:Gm12185 UTSW 11 48,806,183 (GRCm39) missense probably benign 0.01
R3917:Gm12185 UTSW 11 48,806,760 (GRCm39) missense probably benign 0.01
R3969:Gm12185 UTSW 11 48,798,172 (GRCm39) missense probably benign 0.03
R3970:Gm12185 UTSW 11 48,798,172 (GRCm39) missense probably benign 0.03
R4510:Gm12185 UTSW 11 48,799,305 (GRCm39) missense possibly damaging 0.84
R4511:Gm12185 UTSW 11 48,799,305 (GRCm39) missense possibly damaging 0.84
R4529:Gm12185 UTSW 11 48,798,921 (GRCm39) missense possibly damaging 0.66
R4529:Gm12185 UTSW 11 48,798,747 (GRCm39) missense probably damaging 1.00
R4532:Gm12185 UTSW 11 48,798,921 (GRCm39) missense possibly damaging 0.66
R4532:Gm12185 UTSW 11 48,798,747 (GRCm39) missense probably damaging 1.00
R4533:Gm12185 UTSW 11 48,798,921 (GRCm39) missense possibly damaging 0.66
R4533:Gm12185 UTSW 11 48,798,747 (GRCm39) missense probably damaging 1.00
R4678:Gm12185 UTSW 11 48,806,367 (GRCm39) missense probably benign 0.05
R5094:Gm12185 UTSW 11 48,798,375 (GRCm39) missense probably benign 0.35
R5238:Gm12185 UTSW 11 48,799,044 (GRCm39) missense possibly damaging 0.92
R5306:Gm12185 UTSW 11 48,806,382 (GRCm39) missense probably benign 0.03
R5371:Gm12185 UTSW 11 48,806,566 (GRCm39) missense probably benign 0.01
R5995:Gm12185 UTSW 11 48,806,540 (GRCm39) missense probably benign 0.40
R6113:Gm12185 UTSW 11 48,806,167 (GRCm39) missense possibly damaging 0.47
R6147:Gm12185 UTSW 11 48,806,717 (GRCm39) missense probably benign
R6160:Gm12185 UTSW 11 48,799,255 (GRCm39) nonsense probably null
R6247:Gm12185 UTSW 11 48,806,735 (GRCm39) missense probably damaging 0.98
R6264:Gm12185 UTSW 11 48,807,002 (GRCm39) missense probably benign 0.01
R6748:Gm12185 UTSW 11 48,807,123 (GRCm39) missense possibly damaging 0.53
R6765:Gm12185 UTSW 11 48,806,531 (GRCm39) missense probably benign 0.12
R6970:Gm12185 UTSW 11 48,798,739 (GRCm39) nonsense probably null
R7028:Gm12185 UTSW 11 48,799,071 (GRCm39) missense possibly damaging 0.80
R7033:Gm12185 UTSW 11 48,806,826 (GRCm39) missense probably benign
R7512:Gm12185 UTSW 11 48,806,717 (GRCm39) missense probably benign
R7609:Gm12185 UTSW 11 48,806,850 (GRCm39) missense possibly damaging 0.82
R7673:Gm12185 UTSW 11 48,798,455 (GRCm39) missense probably benign 0.45
R8848:Gm12185 UTSW 11 48,806,280 (GRCm39) missense possibly damaging 0.60
R9578:Gm12185 UTSW 11 48,806,408 (GRCm39) missense probably benign
R9580:Gm12185 UTSW 11 48,799,192 (GRCm39) missense possibly damaging 0.48
R9712:Gm12185 UTSW 11 48,798,216 (GRCm39) missense probably benign 0.03
R9760:Gm12185 UTSW 11 48,806,168 (GRCm39) missense probably benign 0.01
Z1176:Gm12185 UTSW 11 48,798,913 (GRCm39) missense probably benign 0.21
Z1177:Gm12185 UTSW 11 48,807,129 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCATCATGTAACAGTCTCACCAGAGAG -3'
(R):5'- CTGGAAAACATCGCTGAGGATTTGAAC -3'

Sequencing Primer
(F):5'- AGGCCCCAGGATGTCAAC -3'
(R):5'- CTGAGGATTTGAACGTGACACTG -3'
Posted On 2013-05-23