Incidental Mutation 'R7769:Gm44511'
ID 598460
Institutional Source Beutler Lab
Gene Symbol Gm44511
Ensembl Gene ENSMUSG00000107872
Gene Name predicted gene 44511
Synonyms
MMRRC Submission 045825-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R7769 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 128757248-128803278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128797240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 83 (T83S)
Ref Sequence ENSEMBL: ENSMUSP00000145481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032472] [ENSMUST00000172887] [ENSMUST00000174544] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756] [ENSMUST00000205130]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032472
AA Change: T83S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: T83S

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 2.04e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172887
AA Change: T83S

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: T83S

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
PDB:3M9Z|A 89 138 1e-25 PDB
SCOP:d1e87a_ 94 137 2e-10 SMART
Blast:CLECT 94 138 2e-25 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174544
AA Change: T50S

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
AA Change: T50S

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
PDB:3M9Z|A 56 97 8e-21 PDB
Blast:CLECT 61 97 1e-20 BLAST
SCOP:d1e87a_ 61 97 8e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204394
AA Change: T83S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: T83S

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.5e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204423
AA Change: T83S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: T83S

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204677
AA Change: T83S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: T83S

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 benign
Transcript: ENSMUST00000204756
AA Change: T74S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: T74S

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
CLECT 85 185 1e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205130
AA Change: T83S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: T83S

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 75 187 1.5e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (71/74)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 ACCAGCCC ACC 14: 118,852,682 (GRCm39) probably null Het
Abhd14b T C 9: 106,328,819 (GRCm39) Y147H probably damaging Het
Adam26b C A 8: 43,974,732 (GRCm39) R90L probably benign Het
Agt A T 8: 125,291,289 (GRCm39) M6K probably benign Het
Akr1c14 T C 13: 4,109,644 (GRCm39) S5P probably benign Het
Arhgef38 A C 3: 132,855,383 (GRCm39) S235A unknown Het
Cabp5 A G 7: 13,134,658 (GRCm39) D31G probably benign Het
Cacna1h T A 17: 25,604,779 (GRCm39) D1178V probably damaging Het
Ccdc88a A T 11: 29,432,381 (GRCm39) E1199D probably damaging Het
Cd244a A T 1: 171,404,873 (GRCm39) I242F probably benign Het
Clpb G T 7: 101,371,924 (GRCm39) R220L probably damaging Het
Cltc C T 11: 86,610,319 (GRCm39) R638H probably damaging Het
Cnr1 A T 4: 33,944,892 (GRCm39) M427L probably benign Het
Ctnnbl1 C T 2: 157,579,390 (GRCm39) probably benign Het
Epb41l2 A T 10: 25,369,471 (GRCm39) T597S probably benign Het
Epb41l3 T C 17: 69,545,421 (GRCm39) Y163H probably damaging Het
Fgg A G 3: 82,920,433 (GRCm39) probably null Het
Gm37240 A T 3: 84,417,232 (GRCm39) D162E possibly damaging Het
Gm6685 T A 11: 28,289,252 (GRCm39) Y188F probably benign Het
Gprin2 A T 14: 33,917,570 (GRCm39) C67S probably benign Het
Grk6 A G 13: 55,598,820 (GRCm39) D140G probably benign Het
Hps3 T C 3: 20,072,972 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,335 (GRCm39) V159A possibly damaging Het
Ibsp A G 5: 104,453,871 (GRCm39) N70D probably benign Het
Ibsp A G 5: 104,458,050 (GRCm39) N196D probably damaging Het
Igfn1 A T 1: 135,910,143 (GRCm39) F147Y possibly damaging Het
Iqca1 T G 1: 90,005,532 (GRCm39) D492A possibly damaging Het
Klhl42 T C 6: 146,993,358 (GRCm39) L110P possibly damaging Het
Krt12 C T 11: 99,308,852 (GRCm39) R395Q probably damaging Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Mttp A C 3: 137,808,873 (GRCm39) L730R probably damaging Het
Muc16 T A 9: 18,571,803 (GRCm39) I239L unknown Het
Myo15a T C 11: 60,399,975 (GRCm39) F1723L Het
Niban2 A G 2: 32,809,844 (GRCm39) T314A possibly damaging Het
Nin T C 12: 70,090,004 (GRCm39) D1137G Het
Nsf C T 11: 103,819,665 (GRCm39) V35M probably damaging Het
Numa1 T A 7: 101,648,207 (GRCm39) I646K possibly damaging Het
Nwd2 A G 5: 63,961,847 (GRCm39) N477S probably damaging Het
Or1p1 T A 11: 74,179,589 (GRCm39) V39E probably damaging Het
P4ha3 A G 7: 99,934,924 (GRCm39) D62G probably damaging Het
Palb2 G T 7: 121,727,638 (GRCm39) D77E probably benign Het
Pcmtd2 T C 2: 181,493,494 (GRCm39) V233A probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr C T 9: 8,946,856 (GRCm39) T699I possibly damaging Het
Pknox2 C A 9: 36,806,602 (GRCm39) probably null Het
Ppp2r3d T C 9: 124,439,087 (GRCm38) H110R Het
Psmd11 T A 11: 80,325,408 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,736,001 (GRCm39) N59S probably benign Het
Qser1 A T 2: 104,588,921 (GRCm39) D1662E possibly damaging Het
Rasip1 A G 7: 45,278,239 (GRCm39) Y180C probably damaging Het
Rbl1 T C 2: 157,033,900 (GRCm39) S393G probably benign Het
Rtn4r C T 16: 17,969,153 (GRCm39) P194S probably benign Het
Ryr1 C T 7: 28,798,210 (GRCm39) G944D probably damaging Het
Scamp3 A G 3: 89,085,298 (GRCm39) D23G probably damaging Het
Secisbp2l CTGGG C 2: 125,613,465 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,789,232 (GRCm39) I529T probably damaging Het
Slc5a10 T A 11: 61,564,473 (GRCm39) D502V probably damaging Het
Smad5 T C 13: 56,880,855 (GRCm39) I323T possibly damaging Het
Spred1 T C 2: 117,007,930 (GRCm39) S279P probably benign Het
Stag1 T A 9: 100,826,880 (GRCm39) V949D possibly damaging Het
Stxbp3 A G 3: 108,708,144 (GRCm39) S386P probably benign Het
Syt14 A G 1: 192,666,632 (GRCm39) S91P unknown Het
Thpo C T 16: 20,544,401 (GRCm39) A211T probably benign Het
Tns1 T A 1: 73,992,530 (GRCm39) D716V probably damaging Het
Trbv26 A G 6: 41,204,481 (GRCm39) Y8C probably benign Het
Tshr A G 12: 91,505,044 (GRCm39) I661V probably damaging Het
Uvrag G A 7: 98,628,928 (GRCm39) P380S probably damaging Het
Vkorc1 G T 7: 127,493,696 (GRCm39) Y88* probably null Het
Vmn1r63 C T 7: 5,806,369 (GRCm39) V88M probably damaging Het
Wdsub1 A G 2: 59,708,763 (GRCm39) Y37H probably damaging Het
Zap70 A G 1: 36,809,983 (GRCm39) D31G probably benign Het
Zc3h12d G A 10: 7,743,390 (GRCm39) A387T probably benign Het
Zfp438 C T 18: 5,213,377 (GRCm39) R527H possibly damaging Het
Other mutations in Gm44511
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03008:Gm44511 APN 6 128,761,059 (GRCm39) splice site probably benign
IGL03028:Gm44511 APN 6 128,757,358 (GRCm39) missense probably damaging 1.00
R1394:Gm44511 UTSW 6 128,797,293 (GRCm39) missense possibly damaging 0.66
R1395:Gm44511 UTSW 6 128,797,293 (GRCm39) missense possibly damaging 0.66
R1959:Gm44511 UTSW 6 128,797,234 (GRCm39) missense probably damaging 0.98
R2190:Gm44511 UTSW 6 128,803,163 (GRCm39) missense possibly damaging 0.46
R6026:Gm44511 UTSW 6 128,797,240 (GRCm39) missense possibly damaging 0.89
R6633:Gm44511 UTSW 6 128,803,205 (GRCm39) missense probably damaging 1.00
R8725:Gm44511 UTSW 6 128,797,997 (GRCm39) missense probably damaging 1.00
R8727:Gm44511 UTSW 6 128,797,997 (GRCm39) missense probably damaging 1.00
R9022:Gm44511 UTSW 6 128,797,271 (GRCm39) missense possibly damaging 0.79
R9285:Gm44511 UTSW 6 128,777,017 (GRCm39) intron probably benign
Z1177:Gm44511 UTSW 6 128,797,301 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CTTGCAGTCTGAGGAAGCATGG -3'
(R):5'- TGGCCATACTGAAGCTTGTG -3'

Sequencing Primer
(F):5'- CCAGGTAGCTAAGATGCTAGATCTC -3'
(R):5'- CCATACTGAAGCTTGTGGAGATG -3'
Posted On 2019-11-26