Incidental Mutation 'IGL01309:Megf11'
ID73576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Megf11
Ensembl Gene ENSMUSG00000036466
Gene Namemultiple EGF-like-domains 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL01309
Quality Score
Status
Chromosome9
Chromosomal Location64385626-64709205 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 64681416 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 532 (S532R)
Ref Sequence ENSEMBL: ENSMUSP00000128672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068967] [ENSMUST00000093829] [ENSMUST00000118485] [ENSMUST00000164113]
Predicted Effect probably benign
Transcript: ENSMUST00000068967
AA Change: S532R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: S532R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 74 84 N/A INTRINSIC
EGF 101 129 1.85e0 SMART
EGF_Lam 145 184 9.55e-3 SMART
EGF_Lam 188 227 2e-5 SMART
EGF 226 258 5.57e-4 SMART
EGF_Lam 274 313 1.26e-2 SMART
EGF_Lam 317 357 2.52e-2 SMART
EGF_Lam 361 402 4.16e-3 SMART
EGF 401 433 6.21e-2 SMART
EGF 444 476 4.1e-2 SMART
EGF 487 519 7.02e-1 SMART
EGF_Lam 535 574 1.43e-1 SMART
EGF_Lam 578 617 5.04e-2 SMART
EGF 616 650 8.52e0 SMART
EGF 661 693 9.41e-2 SMART
EGF 704 736 8.52e0 SMART
EGF_Lam 752 791 2.99e-4 SMART
EGF 790 822 1.14e0 SMART
transmembrane domain 848 870 N/A INTRINSIC
low complexity region 895 909 N/A INTRINSIC
low complexity region 1022 1037 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093829
AA Change: S501R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: S501R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 74 84 N/A INTRINSIC
EGF_Lam 114 153 9.55e-3 SMART
EGF_Lam 157 196 2e-5 SMART
EGF 195 227 5.57e-4 SMART
EGF_Lam 243 282 1.26e-2 SMART
EGF_Lam 286 326 2.52e-2 SMART
EGF_Lam 330 371 4.16e-3 SMART
EGF 370 402 6.21e-2 SMART
EGF 413 445 4.1e-2 SMART
EGF 456 488 7.02e-1 SMART
EGF_Lam 504 543 1.43e-1 SMART
EGF_Lam 547 586 5.04e-2 SMART
EGF 585 619 8.52e0 SMART
EGF 630 662 9.41e-2 SMART
EGF_Lam 678 717 2.99e-4 SMART
EGF 716 748 1.14e0 SMART
transmembrane domain 774 796 N/A INTRINSIC
low complexity region 821 835 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118485
AA Change: S532R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: S532R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 74 84 N/A INTRINSIC
EGF 101 129 1.85e0 SMART
EGF_Lam 145 184 9.55e-3 SMART
EGF_Lam 188 227 2e-5 SMART
EGF 226 258 5.57e-4 SMART
EGF_Lam 274 313 1.26e-2 SMART
EGF_Lam 317 357 2.52e-2 SMART
EGF_Lam 361 402 4.16e-3 SMART
EGF 401 433 6.21e-2 SMART
EGF 444 476 4.1e-2 SMART
EGF 487 519 7.02e-1 SMART
EGF_Lam 535 574 1.43e-1 SMART
EGF_Lam 578 617 5.04e-2 SMART
EGF 616 650 8.52e0 SMART
EGF 661 693 9.41e-2 SMART
EGF 704 736 8.52e0 SMART
EGF_Lam 752 791 2.99e-4 SMART
EGF 790 822 1.14e0 SMART
transmembrane domain 848 870 N/A INTRINSIC
low complexity region 926 941 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124881
AA Change: S122R
SMART Domains Protein: ENSMUSP00000120514
Gene: ENSMUSG00000036466
AA Change: S122R

DomainStartEndE-ValueType
EGF_like 3 36 2.79e0 SMART
EGF 35 67 4.1e-2 SMART
EGF 78 110 7.02e-1 SMART
EGF_Lam 126 165 1.43e-1 SMART
EGF 164 196 1.64e-1 SMART
EGF_Lam 212 251 2.99e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144383
Predicted Effect probably benign
Transcript: ENSMUST00000164113
AA Change: S532R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: S532R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 74 84 N/A INTRINSIC
EGF 101 129 1.85e0 SMART
EGF_Lam 145 184 9.55e-3 SMART
EGF_Lam 188 227 2e-5 SMART
EGF 226 258 5.57e-4 SMART
EGF_Lam 274 313 1.26e-2 SMART
EGF_Lam 317 357 2.52e-2 SMART
EGF_Lam 361 402 4.16e-3 SMART
EGF 401 433 6.21e-2 SMART
EGF 444 476 4.1e-2 SMART
EGF 487 519 7.02e-1 SMART
EGF_Lam 535 574 1.43e-1 SMART
EGF_Lam 578 617 5.04e-2 SMART
EGF 616 650 8.52e0 SMART
EGF 661 693 9.41e-2 SMART
EGF_Lam 709 748 2.99e-4 SMART
EGF 747 779 1.14e0 SMART
transmembrane domain 805 827 N/A INTRINSIC
low complexity region 852 866 N/A INTRINSIC
low complexity region 979 994 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of horizontal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 17,113,546 V275A possibly damaging Het
Adamts2 A G 11: 50,803,701 D1105G probably benign Het
Adgrb3 T A 1: 25,112,271 M195L possibly damaging Het
Adrm1 A G 2: 180,175,963 probably benign Het
Atg13 T A 2: 91,678,831 I457F possibly damaging Het
BC034090 T C 1: 155,226,384 N45D probably damaging Het
C3 C T 17: 57,209,652 probably benign Het
Cacna1a G A 8: 84,523,028 G221D probably damaging Het
Calr A G 8: 84,846,706 probably null Het
Chd3 C T 11: 69,357,731 V825I probably damaging Het
Chdh T G 14: 30,035,804 probably benign Het
Ckap5 T C 2: 91,570,184 V627A probably damaging Het
Commd3 A G 2: 18,672,478 E5G probably benign Het
Ddi1 T C 9: 6,265,773 R199G probably damaging Het
Dennd4c A G 4: 86,805,487 probably benign Het
Dok7 G A 5: 35,079,568 G293D possibly damaging Het
Epm2aip1 T C 9: 111,273,528 V523A probably benign Het
Fam171b C T 2: 83,879,447 Q488* probably null Het
Gabbr1 G A 17: 37,048,607 probably null Het
Gm5965 T G 16: 88,778,331 S131A possibly damaging Het
Gpcpd1 T C 2: 132,550,324 D235G probably damaging Het
Grip1 A T 10: 119,931,302 K111* probably null Het
Itih4 G T 14: 30,891,749 D308Y probably damaging Het
Kcnj6 A G 16: 94,832,455 Y266H probably damaging Het
Lrrc41 T C 4: 116,096,466 L783P probably damaging Het
Map4k5 T C 12: 69,841,963 D298G probably benign Het
Mapkbp1 T C 2: 120,018,942 F712L probably damaging Het
Mcoln2 T C 3: 146,163,527 probably benign Het
Mkx T C 18: 6,937,192 D284G probably benign Het
Mmp16 A G 4: 18,116,185 I596M probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtmr9 A G 14: 63,526,805 L491P probably damaging Het
Olfr1196 T G 2: 88,700,966 Y121S probably damaging Het
Olfr12 T C 1: 92,620,335 M143T probably damaging Het
Olfr917 T A 9: 38,664,993 I284L probably benign Het
Otor T C 2: 143,078,612 V38A possibly damaging Het
Pcdhb12 G T 18: 37,436,154 D118Y probably damaging Het
Prelp T C 1: 133,914,807 H200R probably benign Het
Prmt5 T C 14: 54,509,877 Y481C probably damaging Het
Psg23 T G 7: 18,614,540 D114A probably damaging Het
Ptger4 A T 15: 5,242,758 Y127N probably damaging Het
Rabgap1l C A 1: 160,700,798 V385L probably benign Het
Rergl T A 6: 139,493,258 K191* probably null Het
Sart3 A G 5: 113,759,250 F252S probably damaging Het
Sbno1 A T 5: 124,381,706 S1169T probably benign Het
Serpinb8 C T 1: 107,604,718 T180M probably damaging Het
Sipa1l1 G A 12: 82,387,696 E747K probably benign Het
Sptb T A 12: 76,587,463 D2158V probably benign Het
Sycp2 T G 2: 178,358,111 D1024A probably benign Het
Tbr1 T G 2: 61,806,067 N262K possibly damaging Het
Tnrc6a A T 7: 123,171,494 I836F probably benign Het
Ttn T C 2: 76,938,747 E2823G probably damaging Het
Uqcrc1 T A 9: 108,948,958 L441Q possibly damaging Het
Vmn1r180 T C 7: 23,952,999 F196L probably damaging Het
Vmn2r111 T C 17: 22,569,016 I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 H353L probably damaging Het
Other mutations in Megf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Megf11 APN 9 64508727 missense probably damaging 1.00
IGL01285:Megf11 APN 9 64660446 missense probably damaging 1.00
IGL01953:Megf11 APN 9 64690088 missense probably damaging 1.00
IGL02341:Megf11 APN 9 64544620 missense probably damaging 1.00
IGL02407:Megf11 APN 9 64680249 missense probably damaging 1.00
IGL02621:Megf11 APN 9 64693932 missense probably benign 0.07
R0277:Megf11 UTSW 9 64691350 critical splice donor site probably null
R0386:Megf11 UTSW 9 64640078 missense probably damaging 1.00
R1354:Megf11 UTSW 9 64653177 missense probably benign 0.00
R1709:Megf11 UTSW 9 64695412 missense probably damaging 1.00
R1865:Megf11 UTSW 9 64680299 missense probably benign 0.39
R1895:Megf11 UTSW 9 64679276 missense probably damaging 1.00
R1946:Megf11 UTSW 9 64679276 missense probably damaging 1.00
R2221:Megf11 UTSW 9 64660431 missense possibly damaging 0.63
R2223:Megf11 UTSW 9 64660431 missense possibly damaging 0.63
R3552:Megf11 UTSW 9 64695463 missense possibly damaging 0.75
R4641:Megf11 UTSW 9 64690125 missense possibly damaging 0.93
R4746:Megf11 UTSW 9 64508745 missense probably damaging 1.00
R5594:Megf11 UTSW 9 64686473 missense probably damaging 1.00
R5716:Megf11 UTSW 9 64506110 missense possibly damaging 0.72
R5898:Megf11 UTSW 9 64685964 missense probably damaging 1.00
R5960:Megf11 UTSW 9 64660449 missense probably benign 0.00
R6372:Megf11 UTSW 9 64706625 missense probably damaging 1.00
R6811:Megf11 UTSW 9 64544641 missense probably damaging 0.99
R6868:Megf11 UTSW 9 64680309 missense probably damaging 1.00
R6980:Megf11 UTSW 9 64705850 missense probably damaging 1.00
R6984:Megf11 UTSW 9 64686452 missense probably benign
R7155:Megf11 UTSW 9 64647951 missense probably null 1.00
V5088:Megf11 UTSW 9 64690069 nonsense probably null
V5622:Megf11 UTSW 9 64690069 nonsense probably null
V5622:Megf11 UTSW 9 64690069 nonsense probably null
Z1088:Megf11 UTSW 9 64660476 missense probably damaging 1.00
Posted On2013-10-07