Incidental Mutation 'IGL01412:Mum1'
ID80108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mum1
Ensembl Gene ENSMUSG00000020156
Gene Namemelanoma associated antigen (mutated) 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01412
Quality Score
Status
Chromosome10
Chromosomal Location80226434-80243903 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 80234329 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020365] [ENSMUST00000130260]
Predicted Effect probably null
Transcript: ENSMUST00000020365
SMART Domains Protein: ENSMUSP00000020365
Gene: ENSMUSG00000020156

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Pfam:PWWP 381 458 2.9e-8 PFAM
low complexity region 671 682 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125784
Predicted Effect probably benign
Transcript: ENSMUST00000130260
SMART Domains Protein: ENSMUSP00000117519
Gene: ENSMUSG00000020156

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146538
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,872 Q222* probably null Het
Adamts2 A G 11: 50,795,403 E1016G probably benign Het
Agmo G A 12: 37,402,141 E269K possibly damaging Het
Agrn A T 4: 156,171,034 probably benign Het
Alpk1 A T 3: 127,679,972 L794Q possibly damaging Het
Asb14 T A 14: 26,915,065 L588H probably damaging Het
Btbd16 A T 7: 130,805,819 probably null Het
Cacna1h T C 17: 25,391,950 K625E probably benign Het
Cdh23 T C 10: 60,314,694 D2499G probably damaging Het
Cdhr2 A T 13: 54,725,894 D687V probably damaging Het
Cops8 G T 1: 90,604,431 L45F possibly damaging Het
D130043K22Rik A G 13: 24,887,860 H929R probably damaging Het
Dnah12 A G 14: 26,771,005 E1241G probably damaging Het
Dock4 T A 12: 40,730,041 probably benign Het
Dsg1c A G 18: 20,247,461 I8V probably benign Het
Dst T C 1: 34,242,620 V5435A probably benign Het
Fat4 A G 3: 38,891,181 I1408V probably benign Het
Fhit G T 14: 9,870,065 H72N probably damaging Het
Foxp2 C A 6: 15,376,758 probably benign Het
Fpgt T C 3: 155,086,722 Q556R probably benign Het
Galntl6 T A 8: 57,777,294 E30V probably damaging Het
Gemin4 A T 11: 76,213,485 V150D probably benign Het
Gm13101 A C 4: 143,964,995 V386G probably damaging Het
Grm8 C T 6: 27,762,461 R255H probably damaging Het
Hapln3 G A 7: 79,117,436 probably null Het
Htt T A 5: 34,898,572 L2609Q probably damaging Het
Igdcc4 A G 9: 65,114,449 probably benign Het
Isx T C 8: 74,892,678 L166P probably benign Het
Kcnt2 G A 1: 140,570,417 M884I probably benign Het
Leo1 A G 9: 75,466,242 N650D probably benign Het
Man1a A G 10: 54,074,714 V195A probably benign Het
Map2k5 A T 9: 63,293,706 I215N probably damaging Het
Mier2 A G 10: 79,541,180 *542R probably null Het
Mrgbp T A 2: 180,583,416 F55Y probably damaging Het
Nadsyn1 A T 7: 143,808,790 probably null Het
Nedd9 A T 13: 41,315,786 Y630* probably null Het
Nrp1 T C 8: 128,418,707 probably benign Het
Olfr1141 A T 2: 87,753,117 L292Q probably damaging Het
Olfr617 A G 7: 103,584,907 N295S probably damaging Het
Olfr638 T A 7: 104,003,635 M120K probably damaging Het
Olfr725 A G 14: 50,035,313 I30T probably benign Het
Olfr836 T A 9: 19,121,599 C212S probably benign Het
Pcnx A T 12: 81,906,465 I127F probably damaging Het
Pik3ap1 T C 19: 41,375,890 E130G possibly damaging Het
Pkd1l1 G T 11: 8,950,409 T44N possibly damaging Het
Polr1c A G 17: 46,244,209 S226P probably damaging Het
Prep A G 10: 45,153,112 Y536C probably damaging Het
Ptprb A G 10: 116,343,915 T1413A probably benign Het
Ryr2 T A 13: 11,742,036 K1577N probably benign Het
Selplg G T 5: 113,819,468 T33K probably damaging Het
Slc26a5 T A 5: 21,815,736 I505L probably damaging Het
Slc39a6 T C 18: 24,585,356 N548S probably damaging Het
Sp7 T C 15: 102,359,363 T3A possibly damaging Het
Tango6 T C 8: 106,818,499 V998A probably benign Het
Tas2r130 A T 6: 131,630,510 Y107* probably null Het
Tjp2 T C 19: 24,100,775 E918G probably damaging Het
Trim12a C T 7: 104,306,995 A113T probably benign Het
Zan T A 5: 137,393,032 D4730V unknown Het
Zfp607a A T 7: 27,878,684 D393V probably damaging Het
Other mutations in Mum1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Mum1 APN 10 80239978 missense probably damaging 1.00
IGL02541:Mum1 APN 10 80228439 critical splice donor site probably null
IGL02562:Mum1 APN 10 80238895 missense probably damaging 1.00
IGL02609:Mum1 APN 10 80230083 missense probably damaging 0.99
R0242:Mum1 UTSW 10 80234258 missense probably benign 0.02
R0242:Mum1 UTSW 10 80234258 missense probably benign 0.02
R0378:Mum1 UTSW 10 80238879 synonymous probably null
R0441:Mum1 UTSW 10 80229025 missense probably damaging 1.00
R0675:Mum1 UTSW 10 80230080 missense probably damaging 0.99
R1558:Mum1 UTSW 10 80232944 missense probably benign 0.05
R1612:Mum1 UTSW 10 80233055 unclassified probably benign
R1873:Mum1 UTSW 10 80232608 missense possibly damaging 0.93
R2247:Mum1 UTSW 10 80240425 missense probably damaging 1.00
R3905:Mum1 UTSW 10 80238316 missense probably damaging 1.00
R3907:Mum1 UTSW 10 80238316 missense probably damaging 1.00
R3908:Mum1 UTSW 10 80238316 missense probably damaging 1.00
R4468:Mum1 UTSW 10 80240736 intron probably benign
R4657:Mum1 UTSW 10 80233014 missense probably benign 0.00
R4989:Mum1 UTSW 10 80232868 missense probably benign 0.01
R5030:Mum1 UTSW 10 80240375 intron probably benign
R5133:Mum1 UTSW 10 80232868 missense probably benign 0.01
R5134:Mum1 UTSW 10 80232868 missense probably benign 0.01
R5239:Mum1 UTSW 10 80228421 nonsense probably null
R6119:Mum1 UTSW 10 80229031 missense probably benign 0.25
R6253:Mum1 UTSW 10 80233014 missense probably benign 0.00
R6526:Mum1 UTSW 10 80232279 missense probably benign 0.18
Posted On2013-11-05