Incidental Mutation 'R4805:1810041L15Rik'
ID370647
Institutional Source Beutler Lab
Gene Symbol 1810041L15Rik
Ensembl Gene ENSMUSG00000062760
Gene NameRIKEN cDNA 1810041L15 gene
Synonyms
MMRRC Submission 041999-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R4805 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location84379203-84447097 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84417196 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 82 (H82L)
Ref Sequence ENSEMBL: ENSMUSP00000141117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080751] [ENSMUST00000186527] [ENSMUST00000189248] [ENSMUST00000189994]
Predicted Effect probably damaging
Transcript: ENSMUST00000080751
AA Change: H62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079575
Gene: ENSMUSG00000062760
AA Change: H62L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
low complexity region 152 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186527
Predicted Effect probably damaging
Transcript: ENSMUST00000189248
AA Change: H82L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141117
Gene: ENSMUSG00000062760
AA Change: H82L

DomainStartEndE-ValueType
transmembrane domain 31 50 N/A INTRINSIC
transmembrane domain 119 141 N/A INTRINSIC
low complexity region 172 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189994
AA Change: H62L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140712
Gene: ENSMUSG00000062760
AA Change: H62L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Meta Mutation Damage Score 0.3270 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 82,066,427 Y1508* probably null Het
4931414P19Rik T C 14: 54,595,454 E88G probably benign Het
Acaa1b A G 9: 119,156,946 S17P probably benign Het
Arhgef7 G A 8: 11,831,552 E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 118,121,899 probably benign Het
Bpnt1 T A 1: 185,345,307 probably null Het
Ccnt1 C T 15: 98,544,308 V360I probably benign Het
Chd4 T C 6: 125,128,945 S1829P possibly damaging Het
Dennd1b A T 1: 139,053,384 N112I probably damaging Het
Fat2 A T 11: 55,283,979 D1969E probably benign Het
Flywch1 A C 17: 23,760,617 D394E probably benign Het
Gal3st4 T A 5: 138,265,471 probably null Het
Gm14403 T C 2: 177,508,699 L146P probably damaging Het
Gm5283 G T 3: 17,230,959 noncoding transcript Het
Gpr161 T A 1: 165,306,460 L97Q probably damaging Het
Gstm2 A T 3: 107,985,095 M105K possibly damaging Het
Hecw2 A G 1: 53,840,859 Y1264H probably damaging Het
Ifi206 T A 1: 173,481,386 Q348L possibly damaging Het
Ighv1-83 A T 12: 115,963,869 M87K possibly damaging Het
Ighv2-7 A T 12: 113,807,534 S44T probably damaging Het
Ipo7 T A 7: 110,051,484 N884K probably benign Het
Itga2b T C 11: 102,467,866 N75S probably benign Het
Krt20 A G 11: 99,428,985 V431A unknown Het
Krt24 A T 11: 99,283,626 I205N possibly damaging Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Lrrc31 A T 3: 30,691,297 L67* probably null Het
Lrrc37a A G 11: 103,504,309 F97L probably benign Het
Mapkap1 G A 2: 34,597,422 probably null Het
Mgat4d T G 8: 83,358,158 probably null Het
Mrgprb3 C T 7: 48,643,306 V166I probably benign Het
Myh11 T A 16: 14,234,465 Q379L possibly damaging Het
Myh7 T C 14: 54,985,133 S782G probably benign Het
Nobox T C 6: 43,305,119 D340G probably damaging Het
Ntn4 C T 10: 93,644,500 R29C probably damaging Het
Olfr1453 T A 19: 13,028,297 I11F probably benign Het
Olfr329-ps G A 11: 58,542,570 T315I probably benign Het
Pikfyve T A 1: 65,268,800 I1845N probably damaging Het
Pramef20 A G 4: 144,377,020 Y179H probably benign Het
Rad21l T G 2: 151,668,007 H58P probably damaging Het
Scnn1g T C 7: 121,746,602 L316S probably damaging Het
Serpina5 G A 12: 104,102,201 V174I probably damaging Het
Shank1 T C 7: 44,343,711 S788P unknown Het
Snap47 A G 11: 59,428,517 V265A possibly damaging Het
Steap3 T A 1: 120,243,886 H163L probably benign Het
Sycp2 T C 2: 178,393,961 probably benign Het
Tet2 A G 3: 133,467,315 F1729L probably benign Het
Thsd7b T C 1: 130,188,539 V1343A probably benign Het
Thumpd2 G A 17: 81,026,701 T486I probably damaging Het
Ttc41 G T 10: 86,729,798 M405I possibly damaging Het
Ttn T C 2: 76,747,529 D24340G probably damaging Het
Vmn1r10 T G 6: 57,113,617 F65V possibly damaging Het
Vmn2r118 G T 17: 55,592,581 D774E probably damaging Het
Vmn2r13 C T 5: 109,156,465 C700Y probably damaging Het
Wsb1 A C 11: 79,240,391 M393R possibly damaging Het
Zmat3 A G 3: 32,343,355 Y214H probably benign Het
Zswim3 C T 2: 164,820,179 T193I possibly damaging Het
Other mutations in 1810041L15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01887:1810041L15Rik APN 15 84406650 missense probably damaging 1.00
IGL02381:1810041L15Rik APN 15 84406453 missense probably damaging 1.00
IGL02826:1810041L15Rik APN 15 84420129 splice site probably benign
R1604:1810041L15Rik UTSW 15 84406471 missense probably benign 0.01
R1823:1810041L15Rik UTSW 15 84406468 missense probably benign 0.00
R2246:1810041L15Rik UTSW 15 84417199 missense probably damaging 1.00
R3771:1810041L15Rik UTSW 15 84406685 nonsense probably null
R3772:1810041L15Rik UTSW 15 84406685 nonsense probably null
R3773:1810041L15Rik UTSW 15 84406685 nonsense probably null
R5070:1810041L15Rik UTSW 15 84420163 missense possibly damaging 0.56
R5114:1810041L15Rik UTSW 15 84417226 missense probably damaging 1.00
R5491:1810041L15Rik UTSW 15 84406510 missense probably benign 0.00
R7567:1810041L15Rik UTSW 15 84406713 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATTACCTCCTTGCATGTGCTG -3'
(R):5'- TGGACCCTGAAGAATTCCTAGG -3'

Sequencing Primer
(F):5'- TGCTGTCTGGAGCATGCC -3'
(R):5'- TGTAGGACCCTGGAGCTG -3'
Posted On2016-02-04