Incidental Mutation 'IGL02141:Mroh1'
ID281537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Namemaestro heat-like repeat family member 1
SynonymsHeatr7a, D330001F17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02141
Quality Score
Status
Chromosome15
Chromosomal Location76380261-76453038 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 76446599 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 1161 (S1161I)
Ref Sequence ENSEMBL: ENSMUSP00000124811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096385] [ENSMUST00000159218]
Predicted Effect probably benign
Transcript: ENSMUST00000096385
AA Change: S1170I

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: S1170I

DomainStartEndE-ValueType
low complexity region 442 455 N/A INTRINSIC
low complexity region 594 607 N/A INTRINSIC
low complexity region 799 810 N/A INTRINSIC
low complexity region 935 946 N/A INTRINSIC
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1355 1367 N/A INTRINSIC
low complexity region 1488 1502 N/A INTRINSIC
Pfam:HEAT 1610 1640 2.2e-5 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159218
AA Change: S1161I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: S1161I

DomainStartEndE-ValueType
low complexity region 442 455 N/A INTRINSIC
low complexity region 594 607 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
low complexity region 926 937 N/A INTRINSIC
low complexity region 1182 1193 N/A INTRINSIC
low complexity region 1346 1358 N/A INTRINSIC
low complexity region 1479 1493 N/A INTRINSIC
Pfam:HEAT 1601 1631 1.3e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161962
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 probably benign Het
4931423N10Rik T C 2: 23,230,200 F203L probably damaging Het
Arntl2 T A 6: 146,828,095 probably benign Het
Atf6b C A 17: 34,653,277 H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 probably null Het
Cep89 T A 7: 35,420,924 M377K probably damaging Het
Clpx G T 9: 65,312,118 probably null Het
Cops5 T C 1: 10,035,117 K47E probably damaging Het
Cryba2 T C 1: 74,892,784 N35S probably benign Het
Ddx27 A G 2: 167,020,523 K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 S319P probably benign Het
Dram2 A G 3: 106,571,696 probably benign Het
Eci2 T A 13: 34,978,673 T300S probably benign Het
Egf C A 3: 129,739,982 G70* probably null Het
Eif5b T C 1: 38,032,322 V444A probably benign Het
Elf3 T C 1: 135,257,707 D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 probably null Het
Fam167a T A 14: 63,452,259 S2T probably benign Het
Flrt3 A G 2: 140,660,688 V340A probably damaging Het
Gimap3 T C 6: 48,765,378 E206G probably benign Het
Gp6 T C 7: 4,394,104 probably benign Het
Gpr158 A T 2: 21,783,290 M581L probably damaging Het
Hapln3 A G 7: 79,118,145 V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 T926M probably damaging Het
Lonp1 A T 17: 56,615,086 S765T probably benign Het
Lpp C T 16: 24,761,615 S27F probably damaging Het
Lrit2 T C 14: 37,068,074 probably benign Het
Luc7l C A 17: 26,253,080 T17K probably damaging Het
Muc5b T G 7: 141,853,367 C1091G unknown Het
Mut A G 17: 40,938,817 T228A possibly damaging Het
Nppb A T 4: 147,986,006 I11F probably benign Het
Nsf A T 11: 103,828,525 D650E probably benign Het
Ogdh A G 11: 6,355,015 K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 D70G probably damaging Het
Olfr362 G A 2: 37,105,425 S75F probably benign Het
Pcnx A T 12: 81,860,382 Q4L possibly damaging Het
Pgc T A 17: 47,726,931 L9H probably damaging Het
Pikfyve T A 1: 65,246,397 S887T probably benign Het
Plec T C 15: 76,175,615 D3239G probably damaging Het
Pole4 T C 6: 82,648,034 T116A probably benign Het
Prpf8 A G 11: 75,490,672 N300D possibly damaging Het
Rara T A 11: 98,968,081 Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 N216K probably benign Het
Suox A G 10: 128,672,098 probably benign Het
Tars T A 15: 11,391,194 Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 probably null Het
Ubtd2 A T 11: 32,499,262 K36N probably benign Het
Unkl T C 17: 25,229,434 L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 Y9* probably null Het
Vps13b T C 15: 35,572,081 V948A probably benign Het
Zbtb17 A G 4: 141,464,953 H403R probably damaging Het
Other mutations in Mroh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Mroh1 APN 15 76432288 missense probably benign 0.01
IGL02146:Mroh1 APN 15 76434679 splice site probably benign
IGL02205:Mroh1 APN 15 76437239 missense possibly damaging 0.81
IGL02261:Mroh1 APN 15 76429160 missense probably benign 0.03
IGL02818:Mroh1 APN 15 76432401 splice site probably null
IGL02949:Mroh1 APN 15 76408968 missense probably damaging 0.97
IGL02951:Mroh1 APN 15 76427636 missense probably damaging 1.00
IGL03154:Mroh1 APN 15 76452838 missense probably damaging 1.00
IGL02799:Mroh1 UTSW 15 76392461 critical splice donor site probably null
R0068:Mroh1 UTSW 15 76446692 splice site probably benign
R0068:Mroh1 UTSW 15 76446692 splice site probably benign
R0076:Mroh1 UTSW 15 76451140 missense probably benign 0.00
R0180:Mroh1 UTSW 15 76428250 missense probably damaging 0.99
R0315:Mroh1 UTSW 15 76427600 missense possibly damaging 0.94
R0350:Mroh1 UTSW 15 76432249 missense probably damaging 0.98
R0399:Mroh1 UTSW 15 76452099 missense probably benign 0.44
R0835:Mroh1 UTSW 15 76451883 missense probably damaging 0.96
R0893:Mroh1 UTSW 15 76408938 missense possibly damaging 0.62
R1109:Mroh1 UTSW 15 76446509 splice site probably benign
R1527:Mroh1 UTSW 15 76452263 missense probably benign 0.03
R1595:Mroh1 UTSW 15 76433530 splice site probably benign
R1900:Mroh1 UTSW 15 76433385 missense probably benign 0.00
R1901:Mroh1 UTSW 15 76436049 missense probably benign
R2223:Mroh1 UTSW 15 76408045 critical splice donor site probably null
R2415:Mroh1 UTSW 15 76421211 missense probably damaging 0.99
R3113:Mroh1 UTSW 15 76408536 splice site probably benign
R3437:Mroh1 UTSW 15 76433608 missense possibly damaging 0.92
R3618:Mroh1 UTSW 15 76452346 missense possibly damaging 0.55
R3833:Mroh1 UTSW 15 76401619 missense probably benign 0.08
R4073:Mroh1 UTSW 15 76407985 missense probably benign 0.13
R4156:Mroh1 UTSW 15 76402126 splice site probably null
R4276:Mroh1 UTSW 15 76393851 missense probably damaging 1.00
R4745:Mroh1 UTSW 15 76408530 critical splice donor site probably null
R5450:Mroh1 UTSW 15 76432347 intron probably benign
R5574:Mroh1 UTSW 15 76433931 missense probably benign
R5673:Mroh1 UTSW 15 76430181 missense probably damaging 1.00
R5970:Mroh1 UTSW 15 76451491 missense probably benign 0.24
R5993:Mroh1 UTSW 15 76446680 missense probably damaging 0.99
R6008:Mroh1 UTSW 15 76451357 missense possibly damaging 0.50
R6082:Mroh1 UTSW 15 76430223 missense probably benign 0.06
R6302:Mroh1 UTSW 15 76436119 critical splice donor site probably null
R7030:Mroh1 UTSW 15 76437317 missense probably benign 0.01
R7098:Mroh1 UTSW 15 76408457 nonsense probably null
R7334:Mroh1 UTSW 15 76427638 missense probably benign 0.00
R7337:Mroh1 UTSW 15 76451476 missense probably benign 0.00
R7352:Mroh1 UTSW 15 76451474 missense probably benign 0.06
R7446:Mroh1 UTSW 15 76452272 missense possibly damaging 0.93
R7453:Mroh1 UTSW 15 76433545 missense probably damaging 1.00
R7669:Mroh1 UTSW 15 76451848 missense possibly damaging 0.88
R7753:Mroh1 UTSW 15 76433275 missense possibly damaging 0.62
R7860:Mroh1 UTSW 15 76447332 missense probably benign 0.00
R7990:Mroh1 UTSW 15 76452275 missense probably damaging 1.00
R8140:Mroh1 UTSW 15 76433873 missense probably benign 0.00
R8325:Mroh1 UTSW 15 76432215 frame shift probably null
R8334:Mroh1 UTSW 15 76446556 missense probably benign
R8529:Mroh1 UTSW 15 76427632 missense probably benign 0.00
R8544:Mroh1 UTSW 15 76443358 nonsense probably null
R8688:Mroh1 UTSW 15 76428350 missense probably benign 0.00
R8769:Mroh1 UTSW 15 76412926 missense probably benign 0.00
R8782:Mroh1 UTSW 15 76414296 missense possibly damaging 0.74
Z1177:Mroh1 UTSW 15 76423761 missense probably damaging 1.00
Posted On2015-04-16