Incidental Mutation 'IGL01695:Gm11639'
ID 104258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm11639
Ensembl Gene ENSMUSG00000040838
Gene Name predicted gene 11639
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01695
Quality Score
Status
Chromosome 11
Chromosomal Location 104685707-105117394 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104736063 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 864 (E864D)
Ref Sequence ENSEMBL: ENSMUSP00000116040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000148007] [ENSMUST00000212287]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000148007
AA Change: E864D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116040
Gene: ENSMUSG00000040838
AA Change: E864D

DomainStartEndE-ValueType
low complexity region 40 55 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
internal_repeat_4 146 233 3.42e-6 PROSPERO
internal_repeat_3 165 247 2.21e-6 PROSPERO
low complexity region 331 348 N/A INTRINSIC
internal_repeat_2 349 361 4.38e-8 PROSPERO
internal_repeat_2 371 383 4.38e-8 PROSPERO
low complexity region 385 640 N/A INTRINSIC
Pfam:EF-hand_8 677 729 8.7e-6 PFAM
low complexity region 835 842 N/A INTRINSIC
internal_repeat_1 879 1106 2.47e-14 PROSPERO
internal_repeat_4 1015 1108 3.42e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000212287
AA Change: E885D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 T A 7: 81,476,939 (GRCm38) probably benign Het
Arfgef3 T C 10: 18,603,419 (GRCm38) T1483A probably benign Het
Arl5a A T 2: 52,412,105 (GRCm38) I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 (GRCm38) G1279R probably benign Het
Bbs5 A G 2: 69,649,090 (GRCm38) N43S probably damaging Het
Bltp2 T C 11: 78,265,193 (GRCm38) V177A probably benign Het
Calhm5 A G 10: 34,092,202 (GRCm38) V285A possibly damaging Het
Cdh23 C T 10: 60,331,833 (GRCm38) V1795M probably benign Het
Cep350 T C 1: 155,944,158 (GRCm38) E353G probably damaging Het
Cps1 A T 1: 67,197,035 (GRCm38) I976L probably benign Het
Ctdp1 A T 18: 80,449,626 (GRCm38) S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 (GRCm38) T68I probably damaging Het
Esr2 A G 12: 76,145,319 (GRCm38) S312P probably damaging Het
Gm6408 A G 5: 146,482,129 (GRCm38) probably benign Het
Krt9 A T 11: 100,191,437 (GRCm38) probably null Het
Myh6 T C 14: 54,957,413 (GRCm38) T662A probably benign Het
Ntn1 T C 11: 68,226,604 (GRCm38) D473G probably benign Het
Or51a7 T C 7: 102,965,583 (GRCm38) F161S probably damaging Het
Piezo1 A T 8: 122,495,509 (GRCm38) C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 (GRCm38) T335A possibly damaging Het
Plaa A T 4: 94,574,037 (GRCm38) Y140* probably null Het
Plxnb2 T C 15: 89,157,214 (GRCm38) I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 (GRCm38) N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 (GRCm38) H174Q probably benign Het
Reln G A 5: 21,920,438 (GRCm38) T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 (GRCm38) N384S probably damaging Het
Scrt1 T A 15: 76,518,950 (GRCm38) H280L unknown Het
Serpina1f C A 12: 103,693,684 (GRCm38) C113F probably damaging Het
Setdb2 A T 14: 59,402,293 (GRCm38) probably benign Het
Strc A G 2: 121,375,298 (GRCm38) L830P probably damaging Het
Tifab T C 13: 56,176,385 (GRCm38) S82G probably benign Het
Tmem217 T A 17: 29,526,348 (GRCm38) H136L probably damaging Het
Trio T C 15: 27,773,001 (GRCm38) E715G probably damaging Het
Ttn A T 2: 76,944,016 (GRCm38) M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 (GRCm38) D12G probably damaging Het
Utrn T C 10: 12,745,342 (GRCm38) D195G probably benign Het
Other mutations in Gm11639
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Gm11639 APN 11 105,100,021 (GRCm38) missense probably damaging 1.00
IGL01308:Gm11639 APN 11 104,720,697 (GRCm38) missense probably benign 0.03
IGL01483:Gm11639 APN 11 104,739,347 (GRCm38) missense probably benign 0.03
IGL01860:Gm11639 APN 11 104,690,921 (GRCm38) missense probably benign 0.16
IGL01981:Gm11639 APN 11 104,721,432 (GRCm38) intron probably benign
IGL01984:Gm11639 APN 11 104,738,308 (GRCm38) missense probably benign 0.20
IGL02023:Gm11639 APN 11 104,721,432 (GRCm38) intron probably benign
IGL02252:Gm11639 APN 11 104,753,927 (GRCm38) missense possibly damaging 0.68
IGL02886:Gm11639 APN 11 105,095,874 (GRCm38) missense possibly damaging 0.95
IGL03116:Gm11639 APN 11 104,721,533 (GRCm38) missense probably benign 0.02
IGL03141:Gm11639 APN 11 105,095,870 (GRCm38) missense probably damaging 0.99
IGL03242:Gm11639 APN 11 105,106,404 (GRCm38) missense probably damaging 1.00
IGL03274:Gm11639 APN 11 104,721,093 (GRCm38) missense probably benign 0.03
IGL03408:Gm11639 APN 11 104,710,621 (GRCm38) missense probably benign 0.03
R0018:Gm11639 UTSW 11 104,721,552 (GRCm38) critical splice donor site probably null
R0068:Gm11639 UTSW 11 104,720,822 (GRCm38) missense probably benign 0.29
R0350:Gm11639 UTSW 11 104,690,880 (GRCm38) missense probably benign 0.03
R0646:Gm11639 UTSW 11 104,720,501 (GRCm38) missense probably benign 0.03
R0668:Gm11639 UTSW 11 104,720,492 (GRCm38) missense probably benign 0.16
R0715:Gm11639 UTSW 11 104,720,880 (GRCm38) missense possibly damaging 0.90
R0944:Gm11639 UTSW 11 104,710,730 (GRCm38) splice site probably null
R1330:Gm11639 UTSW 11 104,746,290 (GRCm38) missense possibly damaging 0.84
R1508:Gm11639 UTSW 11 104,710,677 (GRCm38) missense probably benign 0.03
R1643:Gm11639 UTSW 11 104,698,978 (GRCm38) missense probably benign 0.16
R1651:Gm11639 UTSW 11 104,720,666 (GRCm38) missense probably benign 0.03
R1665:Gm11639 UTSW 11 104,721,114 (GRCm38) missense probably benign 0.07
R1702:Gm11639 UTSW 11 104,691,006 (GRCm38) missense probably benign 0.03
R1711:Gm11639 UTSW 11 104,720,688 (GRCm38) missense probably benign 0.07
R1779:Gm11639 UTSW 11 104,720,939 (GRCm38) missense probably benign 0.15
R1813:Gm11639 UTSW 11 104,720,688 (GRCm38) missense probably benign 0.07
R1818:Gm11639 UTSW 11 104,721,507 (GRCm38) missense probably benign 0.10
R1896:Gm11639 UTSW 11 104,720,688 (GRCm38) missense probably benign 0.07
R1969:Gm11639 UTSW 11 104,746,264 (GRCm38) missense probably damaging 1.00
R2139:Gm11639 UTSW 11 104,751,911 (GRCm38) missense possibly damaging 0.53
R2165:Gm11639 UTSW 11 104,751,862 (GRCm38) missense possibly damaging 0.93
R2359:Gm11639 UTSW 11 104,739,280 (GRCm38) missense possibly damaging 0.80
R2394:Gm11639 UTSW 11 104,738,295 (GRCm38) missense probably benign 0.17
R2406:Gm11639 UTSW 11 104,720,631 (GRCm38) missense probably benign 0.03
R2570:Gm11639 UTSW 11 104,733,664 (GRCm38) missense probably damaging 1.00
R3795:Gm11639 UTSW 11 104,733,675 (GRCm38) missense possibly damaging 0.94
R4352:Gm11639 UTSW 11 104,739,314 (GRCm38) missense probably null 0.25
R4359:Gm11639 UTSW 11 104,733,721 (GRCm38) splice site probably null
R4424:Gm11639 UTSW 11 104,736,114 (GRCm38) critical splice donor site probably null
R4895:Gm11639 UTSW 11 104,720,286 (GRCm38) missense probably benign 0.16
R4895:Gm11639 UTSW 11 104,749,670 (GRCm38) missense probably damaging 1.00
R5006:Gm11639 UTSW 11 104,729,677 (GRCm38) splice site probably null
R5066:Gm11639 UTSW 11 104,720,664 (GRCm38) missense probably benign 0.03
R5329:Gm11639 UTSW 11 104,753,806 (GRCm38) splice site probably null
R5405:Gm11639 UTSW 11 104,721,192 (GRCm38) missense probably benign 0.07
R5814:Gm11639 UTSW 11 104,736,114 (GRCm38) critical splice donor site probably benign
R5888:Gm11639 UTSW 11 104,721,401 (GRCm38) splice site probably benign
R5910:Gm11639 UTSW 11 104,690,934 (GRCm38) missense probably benign 0.01
R5975:Gm11639 UTSW 11 104,687,549 (GRCm38) start gained probably benign
R6019:Gm11639 UTSW 11 105,042,902 (GRCm38) critical splice donor site probably null
R6028:Gm11639 UTSW 11 104,769,655 (GRCm38) critical splice donor site probably null
R6048:Gm11639 UTSW 11 104,944,433 (GRCm38) missense unknown
R6059:Gm11639 UTSW 11 105,036,769 (GRCm38) missense probably benign 0.03
R6147:Gm11639 UTSW 11 104,967,740 (GRCm38) missense unknown
R6176:Gm11639 UTSW 11 104,792,557 (GRCm38) missense probably benign 0.16
R6181:Gm11639 UTSW 11 104,831,333 (GRCm38) missense probably benign 0.25
R6196:Gm11639 UTSW 11 104,855,560 (GRCm38) missense probably benign 0.07
R6245:Gm11639 UTSW 11 104,785,008 (GRCm38) missense probably benign 0.03
R6262:Gm11639 UTSW 11 104,893,753 (GRCm38) missense probably benign 0.24
R6263:Gm11639 UTSW 11 104,919,486 (GRCm38) missense unknown
R6277:Gm11639 UTSW 11 105,010,322 (GRCm38) missense possibly damaging 0.49
R6338:Gm11639 UTSW 11 104,843,208 (GRCm38) nonsense probably null
R6355:Gm11639 UTSW 11 105,005,685 (GRCm38) missense probably benign 0.29
R6356:Gm11639 UTSW 11 104,893,707 (GRCm38) missense probably benign 0.19
R6365:Gm11639 UTSW 11 104,924,586 (GRCm38) missense unknown
R6391:Gm11639 UTSW 11 104,994,317 (GRCm38) missense possibly damaging 0.92
R6556:Gm11639 UTSW 11 105,008,251 (GRCm38) missense probably null 0.03
R6604:Gm11639 UTSW 11 104,698,946 (GRCm38) nonsense probably null
R6605:Gm11639 UTSW 11 104,999,281 (GRCm38) splice site probably null
R6634:Gm11639 UTSW 11 104,893,783 (GRCm38) missense probably benign 0.17
R6851:Gm11639 UTSW 11 105,005,695 (GRCm38) missense probably benign 0.03
R6862:Gm11639 UTSW 11 104,721,458 (GRCm38) nonsense probably null
R6949:Gm11639 UTSW 11 104,909,070 (GRCm38) missense probably damaging 1.00
R6970:Gm11639 UTSW 11 104,776,356 (GRCm38) missense probably benign 0.03
R7014:Gm11639 UTSW 11 104,693,422 (GRCm38) missense probably benign 0.03
R7097:Gm11639 UTSW 11 105,008,961 (GRCm38) missense possibly damaging 0.68
R7122:Gm11639 UTSW 11 105,008,961 (GRCm38) missense possibly damaging 0.68
R7124:Gm11639 UTSW 11 104,738,274 (GRCm38) missense probably benign 0.17
R7146:Gm11639 UTSW 11 105,022,938 (GRCm38) missense probably benign 0.03
R7146:Gm11639 UTSW 11 104,967,752 (GRCm38) missense unknown
R7154:Gm11639 UTSW 11 104,699,140 (GRCm38) splice site probably null
R7175:Gm11639 UTSW 11 104,947,411 (GRCm38) missense unknown
R7198:Gm11639 UTSW 11 104,751,885 (GRCm38) missense probably benign 0.15
R7211:Gm11639 UTSW 11 104,724,609 (GRCm38) critical splice donor site probably null
R7211:Gm11639 UTSW 11 104,710,713 (GRCm38) missense probably benign 0.01
R7216:Gm11639 UTSW 11 104,880,549 (GRCm38) missense possibly damaging 0.49
R7221:Gm11639 UTSW 11 104,900,606 (GRCm38) missense probably benign 0.36
R7233:Gm11639 UTSW 11 104,839,843 (GRCm38) missense possibly damaging 0.69
R7236:Gm11639 UTSW 11 104,899,267 (GRCm38) missense probably benign 0.10
R7262:Gm11639 UTSW 11 104,854,606 (GRCm38) critical splice donor site probably null
R7289:Gm11639 UTSW 11 105,038,358 (GRCm38) missense probably benign 0.24
R7323:Gm11639 UTSW 11 105,030,011 (GRCm38) missense probably benign 0.07
R7378:Gm11639 UTSW 11 104,714,702 (GRCm38) missense probably benign 0.03
R7388:Gm11639 UTSW 11 104,721,045 (GRCm38) missense probably damaging 0.97
R7390:Gm11639 UTSW 11 104,724,585 (GRCm38) missense possibly damaging 0.46
R7411:Gm11639 UTSW 11 104,999,723 (GRCm38) missense probably benign 0.10
R7468:Gm11639 UTSW 11 104,749,700 (GRCm38) missense probably benign 0.17
R7497:Gm11639 UTSW 11 104,762,690 (GRCm38) critical splice donor site probably null
R7620:Gm11639 UTSW 11 104,832,143 (GRCm38) missense possibly damaging 0.95
R7638:Gm11639 UTSW 11 105,036,799 (GRCm38) missense probably benign 0.03
R7661:Gm11639 UTSW 11 104,726,677 (GRCm38) missense probably benign 0.03
R7667:Gm11639 UTSW 11 104,751,911 (GRCm38) missense possibly damaging 0.53
R7682:Gm11639 UTSW 11 104,964,348 (GRCm38) splice site probably null
R7708:Gm11639 UTSW 11 104,964,571 (GRCm38) missense unknown
R7721:Gm11639 UTSW 11 104,724,540 (GRCm38) nonsense probably null
R7747:Gm11639 UTSW 11 104,842,603 (GRCm38) missense probably damaging 0.96
R7840:Gm11639 UTSW 11 104,733,713 (GRCm38) missense probably benign 0.07
R7846:Gm11639 UTSW 11 104,714,745 (GRCm38) critical splice donor site probably null
R7893:Gm11639 UTSW 11 104,979,360 (GRCm38) missense unknown
R7897:Gm11639 UTSW 11 104,998,235 (GRCm38) missense probably benign 0.24
R7936:Gm11639 UTSW 11 105,046,559 (GRCm38) critical splice donor site probably null
R7936:Gm11639 UTSW 11 104,999,698 (GRCm38) missense possibly damaging 0.89
R7959:Gm11639 UTSW 11 105,042,801 (GRCm38) missense probably damaging 0.96
R8031:Gm11639 UTSW 11 104,881,469 (GRCm38) missense possibly damaging 0.49
R8041:Gm11639 UTSW 11 104,919,479 (GRCm38) missense unknown
R8054:Gm11639 UTSW 11 104,730,400 (GRCm38) missense probably benign 0.07
R8056:Gm11639 UTSW 11 104,909,070 (GRCm38) missense probably damaging 0.98
R8088:Gm11639 UTSW 11 104,998,246 (GRCm38) missense probably benign 0.10
R8112:Gm11639 UTSW 11 104,950,200 (GRCm38) missense unknown
R8340:Gm11639 UTSW 11 104,986,030 (GRCm38) missense unknown
R8405:Gm11639 UTSW 11 104,721,198 (GRCm38) missense probably benign 0.02
R8413:Gm11639 UTSW 11 104,920,309 (GRCm38) missense unknown
R8472:Gm11639 UTSW 11 104,818,637 (GRCm38) missense probably benign 0.07
R8549:Gm11639 UTSW 11 104,999,695 (GRCm38) missense probably damaging 0.99
R8699:Gm11639 UTSW 11 104,781,246 (GRCm38) missense probably benign 0.03
R8711:Gm11639 UTSW 11 104,852,545 (GRCm38) missense probably benign 0.03
R8732:Gm11639 UTSW 11 104,804,274 (GRCm38) missense probably benign 0.03
R8745:Gm11639 UTSW 11 104,858,478 (GRCm38) missense possibly damaging 0.57
R8806:Gm11639 UTSW 11 105,037,869 (GRCm38) missense probably benign 0.07
R8810:Gm11639 UTSW 11 104,914,895 (GRCm38) missense unknown
R8845:Gm11639 UTSW 11 105,008,961 (GRCm38) missense possibly damaging 0.68
R8870:Gm11639 UTSW 11 104,900,674 (GRCm38) missense probably benign 0.07
R8872:Gm11639 UTSW 11 104,870,054 (GRCm38) missense probably benign 0.19
R8879:Gm11639 UTSW 11 104,690,955 (GRCm38) missense probably benign 0.03
R8924:Gm11639 UTSW 11 104,915,427 (GRCm38) frame shift probably null
R8954:Gm11639 UTSW 11 105,018,699 (GRCm38) critical splice donor site probably null
R8960:Gm11639 UTSW 11 104,929,946 (GRCm38) splice site probably benign
R8975:Gm11639 UTSW 11 105,063,589 (GRCm38) missense probably benign 0.17
R8988:Gm11639 UTSW 11 105,020,526 (GRCm38) missense probably benign 0.07
R8998:Gm11639 UTSW 11 104,749,651 (GRCm38) missense probably benign 0.09
R8999:Gm11639 UTSW 11 104,749,651 (GRCm38) missense probably benign 0.09
R9002:Gm11639 UTSW 11 105,029,996 (GRCm38) missense probably damaging 0.99
R9012:Gm11639 UTSW 11 104,820,521 (GRCm38) critical splice donor site probably null
R9036:Gm11639 UTSW 11 105,036,775 (GRCm38) missense probably benign 0.03
R9037:Gm11639 UTSW 11 104,912,965 (GRCm38) missense unknown
R9059:Gm11639 UTSW 11 104,751,863 (GRCm38) missense possibly damaging 0.73
R9066:Gm11639 UTSW 11 104,740,862 (GRCm38) intron probably benign
R9122:Gm11639 UTSW 11 104,965,779 (GRCm38) missense unknown
R9125:Gm11639 UTSW 11 104,845,534 (GRCm38) missense probably damaging 1.00
R9127:Gm11639 UTSW 11 104,850,581 (GRCm38) missense probably benign 0.07
R9171:Gm11639 UTSW 11 104,909,882 (GRCm38) missense probably benign 0.36
R9219:Gm11639 UTSW 11 104,945,865 (GRCm38) missense unknown
R9224:Gm11639 UTSW 11 104,770,975 (GRCm38) missense probably benign 0.07
R9235:Gm11639 UTSW 11 105,017,161 (GRCm38) missense probably benign 0.19
R9294:Gm11639 UTSW 11 104,831,300 (GRCm38) missense probably benign 0.24
R9318:Gm11639 UTSW 11 104,965,822 (GRCm38) critical splice donor site probably null
R9322:Gm11639 UTSW 11 104,874,373 (GRCm38) missense probably benign 0.36
R9361:Gm11639 UTSW 11 105,005,698 (GRCm38) missense probably benign 0.03
R9408:Gm11639 UTSW 11 104,730,429 (GRCm38) critical splice donor site probably null
R9434:Gm11639 UTSW 11 105,009,037 (GRCm38) missense probably benign 0.24
R9477:Gm11639 UTSW 11 104,945,872 (GRCm38) missense unknown
R9658:Gm11639 UTSW 11 104,720,294 (GRCm38) missense probably benign 0.03
R9719:Gm11639 UTSW 11 104,977,086 (GRCm38) missense unknown
R9751:Gm11639 UTSW 11 104,893,085 (GRCm38) missense probably benign 0.19
R9763:Gm11639 UTSW 11 104,999,659 (GRCm38) missense possibly damaging 0.89
X0026:Gm11639 UTSW 11 104,720,975 (GRCm38) missense probably benign 0.07
Z1088:Gm11639 UTSW 11 104,751,902 (GRCm38) missense probably damaging 0.96
Z1176:Gm11639 UTSW 11 105,001,967 (GRCm38) missense probably benign 0.29
Z1177:Gm11639 UTSW 11 104,820,518 (GRCm38) missense probably benign 0.03
Z1177:Gm11639 UTSW 11 104,739,338 (GRCm38) nonsense probably null
Z1177:Gm11639 UTSW 11 104,924,019 (GRCm38) missense unknown
Posted On 2014-01-21