Incidental Mutation 'R6733:Marveld3'
ID 530147
Institutional Source Beutler Lab
Gene Symbol Marveld3
Ensembl Gene ENSMUSG00000001672
Gene Name MARVEL (membrane-associating) domain containing 3
Synonyms Mrvldc3, MARVD3, 1810006A16Rik
MMRRC Submission 044851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6733 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 110674546-110688835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110688681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 20 (D20G)
Ref Sequence ENSEMBL: ENSMUSP00000001722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001722] [ENSMUST00000051430]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000001722
AA Change: D20G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: D20G

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: D20G
SMART Domains Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: D20G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 14,043,615 (GRCm39) H358Y probably benign Het
Aoc1l2 T C 6: 48,907,464 (GRCm39) S155P probably damaging Het
Ccdc125 T A 13: 100,830,995 (GRCm39) M394K probably benign Het
Cfd C A 10: 79,727,636 (GRCm39) H103Q probably damaging Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Dedd2 T C 7: 24,903,332 (GRCm39) E209G probably benign Het
Dnah3 A G 7: 119,522,197 (GRCm39) S3999P probably benign Het
Fer1l5 T C 1: 36,447,753 (GRCm39) probably null Het
H6pd A T 4: 150,069,578 (GRCm39) probably null Het
Il25 T C 14: 55,170,490 (GRCm39) I21T probably benign Het
Kmt2c C T 5: 25,614,291 (GRCm39) S143N probably damaging Het
Msl1 A G 11: 98,690,882 (GRCm39) E122G probably damaging Het
Obscn A T 11: 58,919,421 (GRCm39) V6861E probably damaging Het
Or5b97 A T 19: 12,878,605 (GRCm39) C180S probably damaging Het
Phc1 A T 6: 122,313,845 (GRCm39) M29K possibly damaging Het
Pkd1l3 T A 8: 110,375,126 (GRCm39) probably null Het
Prl5a1 G T 13: 28,333,919 (GRCm39) V141F possibly damaging Het
Psg20 A T 7: 18,408,547 (GRCm39) V391D probably damaging Het
Ptprh T C 7: 4,606,043 (GRCm39) probably null Het
Rasa3 T C 8: 13,630,037 (GRCm39) E580G possibly damaging Het
Ror1 T C 4: 100,283,252 (GRCm39) V439A probably benign Het
Rsl1 A G 13: 67,325,206 (GRCm39) T81A probably benign Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Slc22a8 T C 19: 8,586,656 (GRCm39) L389P probably benign Het
Slc6a11 A G 6: 114,111,859 (GRCm39) Y142C probably damaging Het
Syt9 C T 7: 107,024,503 (GRCm39) T132I probably damaging Het
Thop1 T A 10: 80,917,246 (GRCm39) I583N probably damaging Het
Tom1l1 A G 11: 90,575,886 (GRCm39) probably null Het
Unk A G 11: 115,941,581 (GRCm39) D276G probably damaging Het
Zfp942 C A 17: 22,147,733 (GRCm39) E299* probably null Het
Zkscan6 A G 11: 65,719,461 (GRCm39) T494A probably damaging Het
Zscan25 T A 5: 145,227,723 (GRCm39) probably null Het
Other mutations in Marveld3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Marveld3 APN 8 110,688,596 (GRCm39) missense possibly damaging 0.81
IGL01341:Marveld3 APN 8 110,675,049 (GRCm39) missense possibly damaging 0.94
IGL01415:Marveld3 APN 8 110,688,705 (GRCm39) missense possibly damaging 0.92
IGL01759:Marveld3 APN 8 110,674,719 (GRCm39) missense possibly damaging 0.90
IGL02012:Marveld3 APN 8 110,674,764 (GRCm39) missense probably damaging 0.99
R0732:Marveld3 UTSW 8 110,675,115 (GRCm39) missense probably damaging 0.99
R1500:Marveld3 UTSW 8 110,675,174 (GRCm39) splice site probably null
R1955:Marveld3 UTSW 8 110,686,380 (GRCm39) missense probably benign 0.08
R2146:Marveld3 UTSW 8 110,686,434 (GRCm39) missense probably benign 0.00
R2172:Marveld3 UTSW 8 110,688,478 (GRCm39) missense probably benign 0.22
R4843:Marveld3 UTSW 8 110,688,702 (GRCm39) missense possibly damaging 0.66
R4925:Marveld3 UTSW 8 110,674,943 (GRCm39) missense probably benign 0.00
R5542:Marveld3 UTSW 8 110,675,249 (GRCm39) missense probably benign 0.03
R6003:Marveld3 UTSW 8 110,680,960 (GRCm39) missense probably damaging 1.00
R6786:Marveld3 UTSW 8 110,674,732 (GRCm39) missense probably benign 0.13
R7156:Marveld3 UTSW 8 110,674,820 (GRCm39) missense probably damaging 1.00
R7194:Marveld3 UTSW 8 110,686,477 (GRCm39) splice site probably null
R7429:Marveld3 UTSW 8 110,675,100 (GRCm39) missense possibly damaging 0.77
R7430:Marveld3 UTSW 8 110,675,100 (GRCm39) missense possibly damaging 0.77
R7810:Marveld3 UTSW 8 110,681,266 (GRCm39) missense probably damaging 0.99
R8421:Marveld3 UTSW 8 110,675,279 (GRCm39) missense probably benign 0.07
R8460:Marveld3 UTSW 8 110,681,040 (GRCm39) missense probably benign 0.16
R8478:Marveld3 UTSW 8 110,688,600 (GRCm39) missense probably damaging 1.00
R8739:Marveld3 UTSW 8 110,688,609 (GRCm39) missense possibly damaging 0.82
R8966:Marveld3 UTSW 8 110,675,019 (GRCm39) missense possibly damaging 0.90
R9334:Marveld3 UTSW 8 110,675,036 (GRCm39) missense probably damaging 0.99
R9465:Marveld3 UTSW 8 110,688,525 (GRCm39) missense possibly damaging 0.66
R9763:Marveld3 UTSW 8 110,688,375 (GRCm39) missense probably benign 0.38
Z1088:Marveld3 UTSW 8 110,674,695 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CCAAGGCTCTTTGTTCGGATG -3'
(R):5'- AGGACTGACATCTATTTCAGCAAG -3'

Sequencing Primer
(F):5'- TTCGGATGCGCGATGGC -3'
(R):5'- CTGACATCTATTTCAGCAAGAATCC -3'
Posted On 2018-08-01