Incidental Mutation 'IGL01341:Marveld3'
ID74864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marveld3
Ensembl Gene ENSMUSG00000001672
Gene NameMARVEL (membrane-associating) domain containing 3
Synonyms1810006A16Rik, MARVD3, Mrvldc3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01341
Quality Score
Status
Chromosome8
Chromosomal Location109947914-109962203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109948417 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 256 (T256S)
Ref Sequence ENSEMBL: ENSMUSP00000001722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001722] [ENSMUST00000034175] [ENSMUST00000051430] [ENSMUST00000179721]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001722
AA Change: T256S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: T256S

DomainStartEndE-ValueType
low complexity region 7 33 N/A INTRINSIC
low complexity region 43 74 N/A INTRINSIC
low complexity region 104 116 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 239 261 N/A INTRINSIC
transmembrane domain 274 296 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000034175
SMART Domains Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Blast:PH 148 247 3e-61 BLAST
LRR 295 314 1.12e2 SMART
Pfam:LRR_7 319 335 3.5e-2 PFAM
LRR 341 363 2.82e0 SMART
LRR 364 387 9.75e0 SMART
LRR 456 479 2.68e1 SMART
LRR 498 517 1.35e1 SMART
LRR 521 540 5.59e1 SMART
LRR 544 563 2.79e1 SMART
LRR 569 589 1.62e1 SMART
LRR 590 609 1.67e1 SMART
LRR 616 641 1.33e2 SMART
LRR 640 659 1.4e1 SMART
LRR_TYP 664 687 6.78e-3 SMART
LRR 709 733 2.15e2 SMART
PP2Cc 772 1028 2.98e-30 SMART
low complexity region 1061 1095 N/A INTRINSIC
Blast:PP2Cc 1109 1175 8e-15 BLAST
low complexity region 1297 1315 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051430
SMART Domains Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672

DomainStartEndE-ValueType
low complexity region 7 33 N/A INTRINSIC
low complexity region 43 74 N/A INTRINSIC
low complexity region 104 116 N/A INTRINSIC
Pfam:MARVEL 168 355 3.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179721
SMART Domains Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
low complexity region 75 92 N/A INTRINSIC
Blast:PH 183 282 4e-61 BLAST
LRR 330 349 1.12e2 SMART
LRR 376 398 2.82e0 SMART
LRR 399 422 9.75e0 SMART
LRR 491 514 2.68e1 SMART
LRR 533 552 1.35e1 SMART
LRR 556 575 5.59e1 SMART
LRR 579 598 2.79e1 SMART
LRR 604 624 1.62e1 SMART
LRR 625 644 1.67e1 SMART
LRR 651 676 1.33e2 SMART
LRR 675 694 1.4e1 SMART
LRR_TYP 699 722 6.78e-3 SMART
LRR 744 768 2.15e2 SMART
PP2Cc 807 1063 2.98e-30 SMART
low complexity region 1096 1130 N/A INTRINSIC
Blast:PP2Cc 1144 1210 8e-15 BLAST
low complexity region 1332 1350 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,011,703 H3450Q probably benign Het
Arcn1 A G 9: 44,757,192 I249T possibly damaging Het
Arhgef5 G A 6: 43,283,991 R1450H probably damaging Het
Cdh26 A T 2: 178,457,447 D113V probably damaging Het
Cnot4 A G 6: 35,070,254 V141A probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Ctsll3 C T 13: 60,798,999 D269N probably benign Het
Dnttip2 T C 3: 122,276,612 I492T probably damaging Het
Gimap8 A G 6: 48,658,767 S489G probably damaging Het
Glra2 T C X: 165,324,566 D46G probably damaging Het
Gm7094 A G 1: 21,272,883 noncoding transcript Het
Gmps T C 3: 64,015,440 I608T probably damaging Het
Gzma A G 13: 113,093,884 probably benign Het
H2-Q4 T A 17: 35,383,002 V280E probably damaging Het
Jak1 C T 4: 101,175,093 G439S probably damaging Het
Kars T C 8: 111,994,974 I556V probably benign Het
Kifc2 T C 15: 76,662,898 probably null Het
Kit T C 5: 75,607,074 I39T probably damaging Het
Map3k6 G T 4: 133,248,060 R702L possibly damaging Het
Nkd1 G A 8: 88,591,552 probably benign Het
Olfr1109 T A 2: 87,093,299 I33L probably benign Het
Olfr805 G A 10: 129,722,878 T222I possibly damaging Het
Pax2 A G 19: 44,790,688 S167G probably damaging Het
Pdlim3 T A 8: 45,915,240 D258E probably benign Het
Ppip5k1 A T 2: 121,343,210 C393* probably null Het
Pxdn T C 12: 30,002,487 S888P probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Reln T A 5: 21,969,079 I2009F probably damaging Het
Sec23b T C 2: 144,585,733 S627P probably benign Het
Slc2a8 T A 2: 32,975,991 Q39L probably damaging Het
Tmem143 T C 7: 45,916,134 Y340H probably damaging Het
Ttn A G 2: 76,730,319 V29246A probably damaging Het
Wdr81 T C 11: 75,445,601 D1654G probably damaging Het
Zbtb11 T G 16: 55,990,931 L484R possibly damaging Het
Zcchc8 A G 5: 123,704,569 V367A probably benign Het
Other mutations in Marveld3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Marveld3 APN 8 109961964 missense possibly damaging 0.81
IGL01415:Marveld3 APN 8 109962073 missense possibly damaging 0.92
IGL01759:Marveld3 APN 8 109948087 missense possibly damaging 0.90
IGL02012:Marveld3 APN 8 109948132 missense probably damaging 0.99
R0732:Marveld3 UTSW 8 109948483 missense probably damaging 0.99
R1500:Marveld3 UTSW 8 109948542 unclassified probably null
R1955:Marveld3 UTSW 8 109959748 missense probably benign 0.08
R2146:Marveld3 UTSW 8 109959802 missense probably benign 0.00
R2172:Marveld3 UTSW 8 109961846 missense probably benign 0.22
R4843:Marveld3 UTSW 8 109962070 missense possibly damaging 0.66
R4925:Marveld3 UTSW 8 109948311 missense probably benign 0.00
R5542:Marveld3 UTSW 8 109948617 missense probably benign 0.03
R6003:Marveld3 UTSW 8 109954328 missense probably damaging 1.00
R6733:Marveld3 UTSW 8 109962049 missense possibly damaging 0.90
R6786:Marveld3 UTSW 8 109948100 missense probably benign 0.13
R7156:Marveld3 UTSW 8 109948188 missense probably damaging 1.00
R7194:Marveld3 UTSW 8 109959845 splice site probably null
R7429:Marveld3 UTSW 8 109948468 missense possibly damaging 0.77
R7430:Marveld3 UTSW 8 109948468 missense possibly damaging 0.77
R7810:Marveld3 UTSW 8 109954634 missense probably damaging 0.99
Z1088:Marveld3 UTSW 8 109948063 missense possibly damaging 0.94
Posted On2013-10-07