Incidental Mutation 'R0455:AI464131'
ID39945
Institutional Source Beutler Lab
Gene Symbol AI464131
Ensembl Gene ENSMUSG00000046312
Gene Nameexpressed sequence AI464131
SynonymsNET37
MMRRC Submission 038655-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0455 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location41495604-41503076 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 41499538 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 31 (R31*)
Ref Sequence ENSEMBL: ENSMUSP00000122357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054920] [ENSMUST00000149596]
Predicted Effect probably null
Transcript: ENSMUST00000054920
AA Change: R31*
SMART Domains Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: R31*

DomainStartEndE-ValueType
transmembrane domain 56 78 N/A INTRINSIC
Pfam:Glyco_hydro_31 311 712 9.7e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149596
AA Change: R31*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,230,983 G342D possibly damaging Het
Acvr2b C T 9: 119,432,609 R399W probably damaging Het
Atf6 A G 1: 170,834,923 V256A probably benign Het
Atp2b4 A T 1: 133,728,716 I732N probably damaging Het
C1qtnf9 A C 14: 60,772,371 Q25H probably damaging Het
Ccdc6 T A 10: 70,142,571 probably benign Het
Cds2 T C 2: 132,285,967 probably null Het
Chdh A G 14: 30,034,646 Y343C probably damaging Het
Col5a2 T C 1: 45,382,102 probably benign Het
Cts3 G A 13: 61,568,210 probably benign Het
Cyfip1 T A 7: 55,892,054 D362E probably benign Het
Dsg1b T A 18: 20,396,025 S273T probably benign Het
Dysf A T 6: 84,140,667 H1274L probably benign Het
Eva1c T C 16: 90,876,098 S187P probably benign Het
Fam126b T C 1: 58,534,479 probably benign Het
Fam13b G A 18: 34,445,528 probably benign Het
Fam172a T A 13: 77,834,713 probably benign Het
Fbn2 C T 18: 58,035,336 G2310S probably damaging Het
Fcna T C 2: 25,625,508 Y183C probably damaging Het
Fnta T C 8: 26,001,028 T263A probably benign Het
Gm94 T C 18: 43,781,244 D83G possibly damaging Het
Gnal C T 18: 67,135,649 probably benign Het
Grb7 T G 11: 98,452,188 S244A probably benign Het
Grm3 T C 5: 9,512,477 T458A probably benign Het
Hdac2 C T 10: 36,991,836 R193C probably damaging Het
Ighmbp2 T C 19: 3,265,072 R783G probably benign Het
Inpp5j G T 11: 3,503,122 L43I possibly damaging Het
Itga11 A T 9: 62,696,961 T44S probably damaging Het
Itsn1 C T 16: 91,868,148 probably benign Het
Kdm6b G T 11: 69,406,996 C233* probably null Het
Lamb3 T C 1: 193,343,392 L1130P probably damaging Het
Lrch3 T C 16: 32,986,880 F508L probably damaging Het
Lrrd1 T A 5: 3,866,425 V814E probably benign Het
Megf10 C T 18: 57,252,982 P356S probably benign Het
Naip1 A T 13: 100,423,219 D1092E probably benign Het
Nus1 T A 10: 52,430,094 V42E probably damaging Het
Olfr435 A C 6: 43,202,072 M143L probably benign Het
Olfr739 A G 14: 50,424,902 I128V possibly damaging Het
Padi3 T C 4: 140,795,713 N306S probably damaging Het
Pex13 T C 11: 23,655,949 S94G probably benign Het
Ppm1h G T 10: 122,802,324 Q166H probably benign Het
Ptafr A T 4: 132,580,085 Y262F probably benign Het
Rabgap1 T A 2: 37,487,120 D321E probably damaging Het
Samsn1 C T 16: 75,945,225 noncoding transcript Het
Scarb1 T C 5: 125,289,681 N63D probably damaging Het
Serpinb7 T C 1: 107,451,610 I249T possibly damaging Het
Srpr A G 9: 35,214,981 K490R probably benign Het
Sycn A G 7: 28,540,973 N22D probably benign Het
Tarbp1 C T 8: 126,440,873 A1067T probably benign Het
Tex14 A G 11: 87,514,305 D681G possibly damaging Het
Usp34 C T 11: 23,446,741 probably benign Het
Vmn2r107 T C 17: 20,374,823 probably benign Het
Vwde A T 6: 13,187,529 M653K probably benign Het
Wrap73 T A 4: 154,148,743 S125T possibly damaging Het
Other mutations in AI464131
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:AI464131 APN 4 41498923 missense possibly damaging 0.68
IGL01352:AI464131 APN 4 41499469 nonsense probably null
IGL01384:AI464131 APN 4 41498151 missense probably damaging 0.99
IGL02150:AI464131 APN 4 41499183 missense possibly damaging 0.48
IGL02557:AI464131 APN 4 41497900 missense possibly damaging 0.51
R0238:AI464131 UTSW 4 41498912 missense probably benign 0.11
R0238:AI464131 UTSW 4 41498912 missense probably benign 0.11
R0413:AI464131 UTSW 4 41498585 missense probably benign 0.00
R0511:AI464131 UTSW 4 41498538 missense probably damaging 0.96
R0560:AI464131 UTSW 4 41498167 missense probably damaging 0.99
R0785:AI464131 UTSW 4 41497539 missense probably benign 0.02
R0940:AI464131 UTSW 4 41497996 missense probably damaging 1.00
R1677:AI464131 UTSW 4 41497947 missense probably benign 0.00
R1762:AI464131 UTSW 4 41498553 missense possibly damaging 0.91
R1984:AI464131 UTSW 4 41497501 missense possibly damaging 0.95
R2192:AI464131 UTSW 4 41497704 missense probably damaging 0.99
R2496:AI464131 UTSW 4 41499165 missense probably benign 0.28
R4212:AI464131 UTSW 4 41498307 missense probably benign 0.01
R4321:AI464131 UTSW 4 41498767 missense probably benign 0.00
R4672:AI464131 UTSW 4 41499061 missense probably benign 0.00
R4890:AI464131 UTSW 4 41498877 missense probably benign 0.00
R4954:AI464131 UTSW 4 41498241 missense possibly damaging 0.89
R5177:AI464131 UTSW 4 41498407 nonsense probably null
R5967:AI464131 UTSW 4 41497830 missense probably benign 0.00
R6005:AI464131 UTSW 4 41498895 missense probably benign 0.31
R6128:AI464131 UTSW 4 41498445 missense probably damaging 1.00
R6162:AI464131 UTSW 4 41497899 missense possibly damaging 0.51
R7202:AI464131 UTSW 4 41498268 missense probably damaging 0.99
R7211:AI464131 UTSW 4 41498028 missense probably damaging 1.00
R7311:AI464131 UTSW 4 41498577 missense probably damaging 1.00
R7524:AI464131 UTSW 4 41498779 missense probably benign 0.03
R7680:AI464131 UTSW 4 41497978 missense probably damaging 1.00
R8177:AI464131 UTSW 4 41497568 nonsense probably null
R8809:AI464131 UTSW 4 41498812 missense probably benign
X0024:AI464131 UTSW 4 41498107 missense possibly damaging 0.92
Z1088:AI464131 UTSW 4 41497557 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTCTGGTTACGGATGGAGAAGC -3'
(R):5'- CCAATTTGGCAAGCATTGGGGC -3'

Sequencing Primer
(F):5'- ACGGTTCAGGTCCAGCAG -3'
(R):5'- CGTGAATCAGAAAACTCAGTTTCCTC -3'
Posted On2013-05-23