Incidental Mutation 'IGL01415:Marveld3'
ID80211
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: 0.066) question?
Stock #IGL01415
Quality Score
Status
Chromosome8
Chromosomal Location109947914-109962203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 109962073 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 12 (T12I)
Ref Sequence ENSEMBL: ENSMUSP00000001722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001722] [ENSMUST00000051430]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001722
AA Change: T12I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: T12I

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 unknown
Transcript: ENSMUST00000051430
AA Change: T12I
SMART Domains Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: T12I

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 noncoding transcript
Transcript: ENSMUST00000155052
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,200,928 Q42R probably damaging Het
Ankrd44 T C 1: 54,752,928 H316R probably damaging Het
Arfgef2 G A 2: 166,867,355 M1117I probably damaging Het
Cdc42bpg A G 19: 6,310,851 D213G probably damaging Het
Cfap69 G A 5: 5,646,979 P106S probably damaging Het
Chkb A T 15: 89,428,784 L30H probably damaging Het
Cit A G 5: 115,941,903 K758E possibly damaging Het
Clstn3 G A 6: 124,438,822 Q634* probably null Het
Esrra C A 19: 6,912,732 W98C probably damaging Het
Ganab A G 19: 8,914,694 probably benign Het
Gcnt3 G T 9: 70,034,457 H276Q probably benign Het
Gm16506 A G 14: 43,724,173 Y206H probably benign Het
Gm1966 C T 7: 106,603,051 noncoding transcript Het
Hkdc1 T A 10: 62,393,859 N680Y probably damaging Het
Ighe A C 12: 113,271,391 L383R unknown Het
Lgals9 T G 11: 78,973,151 D56A probably damaging Het
Nab2 A T 10: 127,665,103 L40Q probably damaging Het
Naip6 T C 13: 100,303,290 E323G probably benign Het
Nubpl T A 12: 52,271,070 V182E possibly damaging Het
Olfr1206 T A 2: 88,865,520 M305K probably benign Het
Olfr1414 A G 1: 92,511,252 Y259H probably damaging Het
Olfr697 A G 7: 106,741,499 V145A probably benign Het
Peg3 A G 7: 6,711,653 I190T probably damaging Het
Plcl1 G A 1: 55,696,396 V299M possibly damaging Het
Ppp4r1 G A 17: 65,813,527 E219K probably damaging Het
Sh3d19 G A 3: 86,098,185 A280T probably benign Het
Srebf2 A G 15: 82,177,462 I370V probably benign Het
Tfb2m A G 1: 179,532,130 probably benign Het
Ttll7 T G 3: 146,909,599 S273A possibly damaging Het
Unc79 A G 12: 103,108,685 N1401D probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Zfand4 G A 6: 116,314,869 R588Q probably benign Het
Other mutations in Marveld3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Marveld3 APN 8 109961964 missense possibly damaging 0.81
IGL01341:Marveld3 APN 8 109948417 missense possibly damaging 0.94
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 On2013-11-05