Incidental Mutation 'R4396:Gm5414'
ID377712
Institutional Source Beutler Lab
Gene Symbol Gm5414
Ensembl Gene ENSMUSG00000064232
Gene Namepredicted gene 5414
Synonyms
MMRRC Submission 041129-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #R4396 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location101624028-101628188 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 101625666 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 294 (E294A)
Ref Sequence ENSEMBL: ENSMUSP00000059101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062879]
Predicted Effect probably damaging
Transcript: ENSMUST00000062879
AA Change: E294A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: E294A

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 148 3.3e-29 PFAM
Filament 151 464 1.4e-143 SMART
low complexity region 489 507 N/A INTRINSIC
low complexity region 511 549 N/A INTRINSIC
Meta Mutation Damage Score 0.48 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,595,920 F552L probably damaging Het
Actn2 A G 13: 12,310,879 L70P probably damaging Het
Btbd7 A G 12: 102,785,293 S1071P probably benign Het
Cd200r1 T A 16: 44,766,054 W16R probably benign Het
Cdhr2 A G 13: 54,715,665 N120D probably damaging Het
Col19a1 T C 1: 24,510,866 T317A unknown Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dmbt1 T C 7: 131,116,632 L1683P probably damaging Het
Dynll1 A T 5: 115,300,641 C2S probably benign Het
Elp2 T A 18: 24,609,650 S80T probably damaging Het
Fat1 T A 8: 44,952,346 N711K probably damaging Het
Fzd3 A G 14: 65,235,605 I238T probably damaging Het
Galnt7 A T 8: 57,538,181 F432I probably damaging Het
Gemin5 T A 11: 58,139,549 T817S probably benign Het
Gm8909 C A 17: 36,161,969 probably benign Het
Homer3 G A 8: 70,290,143 probably null Het
Kcnj4 C A 15: 79,484,673 A369S probably benign Het
Llgl1 T C 11: 60,706,008 V145A probably benign Het
Mdga1 T C 17: 29,850,517 D185G probably damaging Het
Mettl2 A G 11: 105,126,778 D38G probably damaging Het
Mfsd13a C T 19: 46,371,992 R328C probably damaging Het
Mpp4 T C 1: 59,144,802 I260V possibly damaging Het
Mtcl1 T C 17: 66,344,225 E1112G probably damaging Het
Mtus2 T A 5: 148,203,938 N871K possibly damaging Het
Mylk C T 16: 34,912,275 Q642* probably null Het
Naip6 C T 13: 100,300,600 A472T probably benign Het
Olfr1308 A G 2: 111,960,215 I286T probably damaging Het
Pdzd2 A T 15: 12,387,646 D875E probably benign Het
Piezo1 G T 8: 122,498,674 T557K probably damaging Het
Plxna2 C T 1: 194,749,317 S538F probably damaging Het
Plxnb1 T C 9: 109,100,223 V49A possibly damaging Het
Pramel6 A T 2: 87,508,530 I25F probably damaging Het
Rreb1 C T 13: 37,930,443 Q593* probably null Het
Scn8a A G 15: 100,972,830 N254S probably damaging Het
Scnn1g T G 7: 121,740,427 S150A probably benign Het
Sec24a A G 11: 51,715,164 F686L possibly damaging Het
Sirt1 T C 10: 63,321,998 T546A probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Traf5 A T 1: 191,997,845 V415E probably benign Het
Traip C G 9: 107,959,487 T110S probably benign Het
Treml2 T C 17: 48,308,114 V209A probably benign Het
Trpv5 T C 6: 41,657,896 S500G probably benign Het
Usp32 G A 11: 85,053,975 L296F probably benign Het
Vmn2r79 A G 7: 87,001,891 H166R possibly damaging Het
Zswim1 A G 2: 164,825,449 D207G probably damaging Het
Other mutations in Gm5414
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm5414 APN 15 101628134 missense probably benign 0.00
IGL01774:Gm5414 APN 15 101626975 missense probably benign 0.13
IGL01939:Gm5414 APN 15 101625670 splice site probably benign
IGL02205:Gm5414 APN 15 101625869 missense probably benign 0.44
IGL02411:Gm5414 APN 15 101627834 missense probably benign 0.05
IGL02720:Gm5414 APN 15 101625555 missense probably damaging 1.00
IGL02900:Gm5414 APN 15 101627807 missense probably damaging 0.99
IGL03283:Gm5414 APN 15 101627087 missense probably damaging 1.00
PIT4480001:Gm5414 UTSW 15 101627746 missense probably damaging 1.00
PIT4504001:Gm5414 UTSW 15 101625823 missense probably damaging 0.98
R1905:Gm5414 UTSW 15 101624640 missense probably damaging 1.00
R2070:Gm5414 UTSW 15 101628060 missense possibly damaging 0.52
R3011:Gm5414 UTSW 15 101625612 missense probably damaging 1.00
R3033:Gm5414 UTSW 15 101624609 missense probably damaging 1.00
R4074:Gm5414 UTSW 15 101625553 missense probably benign
R4257:Gm5414 UTSW 15 101624672 missense probably damaging 1.00
R4648:Gm5414 UTSW 15 101628108 missense possibly damaging 0.72
R4912:Gm5414 UTSW 15 101625010 missense possibly damaging 0.46
R5095:Gm5414 UTSW 15 101624038 missense probably benign 0.01
R5135:Gm5414 UTSW 15 101627768 missense probably damaging 0.97
R5177:Gm5414 UTSW 15 101625817 missense possibly damaging 0.91
R5330:Gm5414 UTSW 15 101624664 missense probably damaging 1.00
R5331:Gm5414 UTSW 15 101624664 missense probably damaging 1.00
R5432:Gm5414 UTSW 15 101624634 missense probably damaging 1.00
R5521:Gm5414 UTSW 15 101627987 missense probably benign 0.33
R5623:Gm5414 UTSW 15 101625811 missense probably damaging 1.00
R6781:Gm5414 UTSW 15 101625661 missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACTCATGGAGTTCAGGGTGG -3'
(R):5'- GCCAAGGTCCACAGTTTGATAG -3'

Sequencing Primer
(F):5'- GTCCCAGGCATCCTCATCAG -3'
(R):5'- GGTCCACAGTTTGATAGATGAGATC -3'
Posted On2016-03-21