Incidental Mutation 'R6781:Gm5414'
ID 531431
Institutional Source Beutler Lab
Gene Symbol Gm5414
Ensembl Gene ENSMUSG00000064232
Gene Name predicted gene 5414
Synonyms
MMRRC Submission 044895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R6781 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101532463-101536623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101534096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 296 (S296T)
Ref Sequence ENSEMBL: ENSMUSP00000059101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062879]
AlphaFold Q6IFZ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000062879
AA Change: S296T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: S296T

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 0.1080 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,593,380 (GRCm39) I259N possibly damaging Het
Acot12 G T 13: 91,932,531 (GRCm39) probably null Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,162 (GRCm39) L195P probably damaging Het
Aox4 A T 1: 58,284,268 (GRCm39) D556V probably benign Het
Arhgef40 A C 14: 52,235,354 (GRCm39) probably benign Het
Asb15 T C 6: 24,558,674 (GRCm39) V63A probably benign Het
Bicd1 T C 6: 149,414,664 (GRCm39) I459T possibly damaging Het
Bub1 C A 2: 127,649,777 (GRCm39) G694W probably damaging Het
C4b A T 17: 34,961,928 (GRCm39) I106N probably damaging Het
Clca4b T C 3: 144,628,562 (GRCm39) I382V probably benign Het
Cntnap5a A C 1: 116,220,127 (GRCm39) S646R probably benign Het
Cntnap5c C T 17: 58,445,648 (GRCm39) Q563* probably null Het
Cpn1 A G 19: 43,969,343 (GRCm39) F107L possibly damaging Het
Csrnp3 T A 2: 65,852,615 (GRCm39) C336S probably benign Het
Defa3 T A 8: 21,778,277 (GRCm39) M87K probably benign Het
Dennd2b T C 7: 109,124,511 (GRCm39) D1110G possibly damaging Het
Dmbt1 T C 7: 130,648,291 (GRCm39) F274L probably benign Het
Dnah8 TTA TTATA 17: 30,984,698 (GRCm39) probably null Het
Dnase2b T C 3: 146,288,126 (GRCm39) H323R probably benign Het
Fam83e A T 7: 45,371,571 (GRCm39) probably benign Het
Fbn1 T C 2: 125,158,958 (GRCm39) N2269S probably damaging Het
Foxa1 A T 12: 57,590,043 (GRCm39) M59K possibly damaging Het
Fpr3 T C 17: 18,190,978 (GRCm39) V83A probably benign Het
Frmd6 A G 12: 70,946,417 (GRCm39) D615G possibly damaging Het
Gfra3 T C 18: 34,844,375 (GRCm39) K55R possibly damaging Het
Gtf3c1 T A 7: 125,258,369 (GRCm39) K1234* probably null Het
Hltf T A 3: 20,152,330 (GRCm39) Y609N probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift74 A G 4: 94,515,539 (GRCm39) D152G probably damaging Het
Kcnk6 T C 7: 28,924,480 (GRCm39) Y308C probably damaging Het
Klhl29 A G 12: 5,141,347 (GRCm39) S546P probably damaging Het
Map7d1 AGGGCAGCC AGGGCAGCCGGGCAGCC 4: 126,134,544 (GRCm39) probably null Het
Meis2 T A 2: 115,879,636 (GRCm39) H228L probably benign Het
Mfsd10 A T 5: 34,791,853 (GRCm39) M344K possibly damaging Het
Mrps33 T C 6: 39,782,757 (GRCm39) probably benign Het
Or2a52 A G 6: 43,144,322 (GRCm39) E110G probably damaging Het
Or4p23 A T 2: 88,577,174 (GRCm39) N19K probably benign Het
Pik3cb T C 9: 98,923,045 (GRCm39) T996A possibly damaging Het
Plekha7 A G 7: 115,757,090 (GRCm39) probably null Het
Ppp1cb A G 5: 32,638,106 (GRCm39) Y86C probably damaging Het
Sass6 T G 3: 116,388,773 (GRCm39) probably benign Het
Slc6a15 A T 10: 103,230,928 (GRCm39) I218F probably damaging Het
Tcf23 C T 5: 31,126,304 (GRCm39) P61L probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zc3h6 T C 2: 128,857,341 (GRCm39) F620S probably damaging Het
Other mutations in Gm5414
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Gm5414 APN 15 101,536,569 (GRCm39) missense probably benign 0.00
IGL01774:Gm5414 APN 15 101,535,410 (GRCm39) missense probably benign 0.13
IGL01939:Gm5414 APN 15 101,534,105 (GRCm39) splice site probably benign
IGL02205:Gm5414 APN 15 101,534,304 (GRCm39) missense probably benign 0.44
IGL02411:Gm5414 APN 15 101,536,269 (GRCm39) missense probably benign 0.05
IGL02720:Gm5414 APN 15 101,533,990 (GRCm39) missense probably damaging 1.00
IGL02900:Gm5414 APN 15 101,536,242 (GRCm39) missense probably damaging 0.99
IGL03283:Gm5414 APN 15 101,535,522 (GRCm39) missense probably damaging 1.00
PIT4480001:Gm5414 UTSW 15 101,536,181 (GRCm39) missense probably damaging 1.00
PIT4504001:Gm5414 UTSW 15 101,534,258 (GRCm39) missense probably damaging 0.98
R1905:Gm5414 UTSW 15 101,533,075 (GRCm39) missense probably damaging 1.00
R2070:Gm5414 UTSW 15 101,536,495 (GRCm39) missense possibly damaging 0.52
R3011:Gm5414 UTSW 15 101,534,047 (GRCm39) missense probably damaging 1.00
R3033:Gm5414 UTSW 15 101,533,044 (GRCm39) missense probably damaging 1.00
R4074:Gm5414 UTSW 15 101,533,988 (GRCm39) missense probably benign
R4257:Gm5414 UTSW 15 101,533,107 (GRCm39) missense probably damaging 1.00
R4396:Gm5414 UTSW 15 101,534,101 (GRCm39) missense probably damaging 1.00
R4648:Gm5414 UTSW 15 101,536,543 (GRCm39) missense possibly damaging 0.72
R4912:Gm5414 UTSW 15 101,533,445 (GRCm39) missense possibly damaging 0.46
R5095:Gm5414 UTSW 15 101,532,473 (GRCm39) missense probably benign 0.01
R5135:Gm5414 UTSW 15 101,536,203 (GRCm39) missense probably damaging 0.97
R5177:Gm5414 UTSW 15 101,534,252 (GRCm39) missense possibly damaging 0.91
R5330:Gm5414 UTSW 15 101,533,099 (GRCm39) missense probably damaging 1.00
R5331:Gm5414 UTSW 15 101,533,099 (GRCm39) missense probably damaging 1.00
R5432:Gm5414 UTSW 15 101,533,069 (GRCm39) missense probably damaging 1.00
R5521:Gm5414 UTSW 15 101,536,422 (GRCm39) missense probably benign 0.33
R5623:Gm5414 UTSW 15 101,534,246 (GRCm39) missense probably damaging 1.00
R8298:Gm5414 UTSW 15 101,532,605 (GRCm39) missense unknown
R8912:Gm5414 UTSW 15 101,536,620 (GRCm39) missense possibly damaging 0.94
R9092:Gm5414 UTSW 15 101,536,345 (GRCm39) missense probably benign 0.01
R9721:Gm5414 UTSW 15 101,536,582 (GRCm39) nonsense probably null
RF001:Gm5414 UTSW 15 101,536,388 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCCCAATACTCACTTTAGTCTGG -3'
(R):5'- TCTTCAGGATGCAGATGCTG -3'

Sequencing Primer
(F):5'- TTAGTCTGGTACCAAGACTCAGC -3'
(R):5'- TTACAGCCAAGGTCCACAGTTTG -3'
Posted On 2018-08-29