Incidental Mutation 'IGL03028:Gm44511'
ID 408281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm44511
Ensembl Gene ENSMUSG00000107872
Gene Name predicted gene 44511
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL03028
Quality Score
Status
Chromosome 6
Chromosomal Location 128780285-128826315 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128780395 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 179 (S179G)
Ref Sequence ENSEMBL: ENSMUSP00000144777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167691] [ENSMUST00000174404] [ENSMUST00000174865] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000167691
AA Change: S233G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325
AA Change: S233G

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
CLECT 139 256 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172601
AA Change: S183G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000134184
Gene: ENSMUSG00000030325
AA Change: S183G

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
CLECT 90 207 1.65e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174404
AA Change: S236G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325
AA Change: S236G

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
CLECT 142 259 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174865
SMART Domains Protein: ENSMUSP00000134055
Gene: ENSMUSG00000030325

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204394
AA Change: S188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: S188G

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.5e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204423
AA Change: S188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: S188G

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204677
SMART Domains Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
PDB:3M9Z|A 89 144 2e-30 PDB
SCOP:d1e87a_ 94 143 2e-12 SMART
Blast:CLECT 94 144 3e-30 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000204756
AA Change: S179G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: S179G

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
CLECT 85 185 1e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,594,762 V86G probably benign Het
Adgra3 A T 5: 50,016,852 W115R probably benign Het
Ahr G A 12: 35,504,710 A470V probably benign Het
AI481877 A C 4: 59,094,274 I150S possibly damaging Het
Aoah A T 13: 20,816,582 Q62L possibly damaging Het
Arhgef12 A T 9: 43,026,228 D100E possibly damaging Het
Asic1 A G 15: 99,672,157 N120D probably benign Het
Atp2b2 A G 6: 113,759,142 L988P probably damaging Het
Atxn2 T A 5: 121,810,909 H789Q probably damaging Het
Clk1 G T 1: 58,421,102 S123* probably null Het
Col10a1 C T 10: 34,395,016 A328V probably benign Het
Col26a1 G T 5: 136,743,118 D415E possibly damaging Het
Ctla2a A G 13: 60,935,459 probably benign Het
Cwf19l2 A G 9: 3,430,622 E318G probably benign Het
Dnajc16 C T 4: 141,767,732 W523* probably null Het
Ehhadh T C 16: 21,762,394 E616G probably damaging Het
F5 A T 1: 164,193,000 K1015* probably null Het
Fam78a A G 2: 32,082,882 W9R possibly damaging Het
Frs2 A T 10: 117,073,933 M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 M200L probably benign Het
Gpr25 G A 1: 136,260,812 S21L probably benign Het
Hsdl2 A G 4: 59,594,471 D34G probably damaging Het
Kcnt1 A G 2: 25,909,203 probably null Het
Kl A G 5: 150,991,550 Y914C probably damaging Het
Map3k3 T G 11: 106,110,751 V45G probably damaging Het
Mppe1 A C 18: 67,227,684 C261W probably damaging Het
Nin T C 12: 70,035,270 T1640A probably benign Het
Olfr368 C T 2: 37,331,956 L70F probably damaging Het
Olfr483 T A 7: 108,104,173 M288K probably damaging Het
Olfr570 T A 7: 102,900,829 I154N possibly damaging Het
Olfr616 A G 7: 103,564,589 probably null Het
Olfr844 A T 9: 19,319,368 Y284F probably damaging Het
Oxr1 A G 15: 41,817,163 N166D probably damaging Het
Pank4 T A 4: 154,969,985 probably benign Het
Pgd A G 4: 149,161,627 probably null Het
Pitrm1 C T 13: 6,574,393 H831Y probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rad51 A C 2: 119,116,314 M1L possibly damaging Het
Recql5 G T 11: 115,894,431 S746R possibly damaging Het
Rhbdl3 C T 11: 80,323,461 Q133* probably null Het
Rpp40 A T 13: 35,904,511 L59Q probably damaging Het
Rtca C A 3: 116,493,092 probably benign Het
Rtkn C T 6: 83,147,872 Q108* probably null Het
Sirt6 C T 10: 81,627,541 probably benign Het
Slc9a4 G A 1: 40,610,377 V517M probably benign Het
Smarca2 G T 19: 26,678,312 probably benign Het
Snx33 A T 9: 56,926,451 D111E probably benign Het
Tgfb1 T C 7: 25,704,196 I311T probably damaging Het
Tgfb2 C T 1: 186,630,609 probably null Het
Tmem232 T C 17: 65,256,389 T670A probably benign Het
Tnfsf4 T C 1: 161,395,642 F21L possibly damaging Het
Ubr5 T C 15: 38,047,593 T47A probably benign Het
Unc79 T C 12: 103,173,526 V2515A possibly damaging Het
Utp6 T C 11: 79,953,624 K192E probably damaging Het
Vmn2r102 T C 17: 19,694,066 F631S possibly damaging Het
Zfp516 A C 18: 82,955,913 I79L possibly damaging Het
Other mutations in Gm44511
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03008:Gm44511 APN 6 128784096 splice site probably benign
R1394:Gm44511 UTSW 6 128820330 missense possibly damaging 0.66
R1395:Gm44511 UTSW 6 128820330 missense possibly damaging 0.66
R1959:Gm44511 UTSW 6 128820271 missense probably damaging 0.98
R2190:Gm44511 UTSW 6 128826200 missense possibly damaging 0.46
R6026:Gm44511 UTSW 6 128820277 missense possibly damaging 0.89
R6633:Gm44511 UTSW 6 128826242 missense probably damaging 1.00
R7769:Gm44511 UTSW 6 128820277 missense probably benign 0.04
R8725:Gm44511 UTSW 6 128821034 missense probably damaging 1.00
R8727:Gm44511 UTSW 6 128821034 missense probably damaging 1.00
R9022:Gm44511 UTSW 6 128820308 missense possibly damaging 0.79
R9285:Gm44511 UTSW 6 128800054 intron probably benign
Z1177:Gm44511 UTSW 6 128820338 critical splice acceptor site probably null
Posted On 2016-08-02