Incidental Mutation 'R0399:Mroh1'
ID 38080
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 038604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0399 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76336299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1530 (A1530V)
Ref Sequence ENSEMBL: ENSMUSP00000094115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023217] [ENSMUST00000096385] [ENSMUST00000159218]
AlphaFold E0CZ22
Predicted Effect probably benign
Transcript: ENSMUST00000023217
SMART Domains Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
low complexity region 106 117 N/A INTRINSIC
BOP1NT 130 388 1.38e-177 SMART
WD40 388 427 1.16e-9 SMART
WD40 430 469 6.16e0 SMART
WD40 508 551 7.1e1 SMART
WD40 554 592 4.46e-1 SMART
WD40 595 634 2.76e-2 SMART
WD40 638 677 4.14e-6 SMART
WD40 689 732 3.14e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096385
AA Change: A1530V

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: A1530V

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 probably benign
Transcript: ENSMUST00000159218
AA Change: A1521V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: A1521V

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: ENSMUST00000161350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161683
Predicted Effect probably benign
Transcript: ENSMUST00000161265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229132
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030452D12Rik T C 8: 107,231,174 (GRCm39) M120T unknown Het
Actr1a A T 19: 46,373,450 (GRCm39) probably null Het
Anapc5 A T 5: 122,929,816 (GRCm39) V555D probably damaging Het
Aox1 A G 1: 58,108,008 (GRCm39) probably null Het
Arhgap30 A G 1: 171,232,384 (GRCm39) E343G probably damaging Het
Asap2 C T 12: 21,267,998 (GRCm39) T291I possibly damaging Het
Atp5f1a T A 18: 77,869,536 (GRCm39) Y439* probably null Het
Auts2 A T 5: 131,469,362 (GRCm39) S428T probably benign Het
B3gnt7 T A 1: 86,233,433 (GRCm39) C109* probably null Het
C4b C A 17: 34,947,843 (GRCm39) Q1657H probably damaging Het
Cadm2 A T 16: 66,544,225 (GRCm39) L268* probably null Het
Cep290 G A 10: 100,390,262 (GRCm39) probably benign Het
Cep68 T G 11: 20,180,571 (GRCm39) I687L probably benign Het
Chd6 T A 2: 160,894,608 (GRCm39) D84V probably damaging Het
Clpx A G 9: 65,230,051 (GRCm39) T514A probably benign Het
Cox18 A T 5: 90,362,887 (GRCm39) C324S probably benign Het
Cryzl2 T C 1: 157,289,586 (GRCm39) Y75H probably damaging Het
Cxcr6 C T 9: 123,640,016 (GRCm39) A339V possibly damaging Het
Dock1 T C 7: 134,765,171 (GRCm39) L1721P probably benign Het
Dstyk T C 1: 132,380,818 (GRCm39) probably benign Het
Ecpas T C 4: 58,827,047 (GRCm39) T1029A possibly damaging Het
Ehf A G 2: 103,097,215 (GRCm39) Y246H probably damaging Het
Epas1 T C 17: 87,112,621 (GRCm39) V73A probably benign Het
Filip1 A G 9: 79,725,592 (GRCm39) I1009T possibly damaging Het
Glis3 A T 19: 28,276,168 (GRCm39) probably benign Het
Gm17333 A T 16: 77,649,678 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Gpr155 A T 2: 73,200,346 (GRCm39) I387N possibly damaging Het
Gria1 A G 11: 57,076,853 (GRCm39) D83G probably damaging Het
Grid2 A G 6: 64,643,036 (GRCm39) I933V probably benign Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Hook2 A G 8: 85,720,196 (GRCm39) probably benign Het
Ift140 T A 17: 25,269,314 (GRCm39) S656R possibly damaging Het
Il11ra1 A T 4: 41,766,185 (GRCm39) T241S probably benign Het
Kank1 A G 19: 25,388,606 (GRCm39) I760V probably benign Het
Kansl1 T C 11: 104,314,958 (GRCm39) E360G possibly damaging Het
Klf9 A T 19: 23,119,446 (GRCm39) S110C probably damaging Het
Klhl31 A G 9: 77,557,935 (GRCm39) N217S probably benign Het
Lct T C 1: 128,228,262 (GRCm39) Y1077C probably damaging Het
Lrrc49 A T 9: 60,517,529 (GRCm39) probably benign Het
Lrrn1 T A 6: 107,546,081 (GRCm39) H626Q probably benign Het
Mmp28 A T 11: 83,342,558 (GRCm39) L40Q probably damaging Het
Myo1e A G 9: 70,209,075 (GRCm39) probably benign Het
Naa25 A T 5: 121,573,553 (GRCm39) M761L probably benign Het
Ncln G A 10: 81,324,131 (GRCm39) A465V probably damaging Het
Nktr A G 9: 121,560,550 (GRCm39) N98S probably damaging Het
Or52h9 T A 7: 104,202,576 (GRCm39) V150E probably benign Het
Or5a1 G C 19: 12,097,734 (GRCm39) A114G possibly damaging Het
Or6d15 C A 6: 116,559,742 (GRCm39) S55I probably benign Het
Or8b4 G T 9: 37,830,849 (GRCm39) A304S possibly damaging Het
Or9g3 T C 2: 85,590,248 (GRCm39) I157M possibly damaging Het
Pacsin2 T C 15: 83,270,983 (GRCm39) Y222C probably damaging Het
Pcdhb15 C T 18: 37,607,221 (GRCm39) T151M possibly damaging Het
Plcz1 C A 6: 139,968,956 (GRCm39) V161L possibly damaging Het
Ppp6c G A 2: 39,090,136 (GRCm39) probably benign Het
Relch A G 1: 105,678,684 (GRCm39) probably benign Het
Rhbdf2 T A 11: 116,494,818 (GRCm39) Y286F probably benign Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Slc35c2 A C 2: 165,122,815 (GRCm39) Y156* probably null Het
Spata46 A G 1: 170,139,106 (GRCm39) D35G probably damaging Het
Tmed3 A G 9: 89,584,926 (GRCm39) F110L possibly damaging Het
Tmem104 T G 11: 115,092,134 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,991 (GRCm39) V320E possibly damaging Het
Trib2 T C 12: 15,843,664 (GRCm39) D190G probably damaging Het
Tspan2 A G 3: 102,666,701 (GRCm39) T26A probably damaging Het
Usp17lb A C 7: 104,490,358 (GRCm39) Y190D possibly damaging Het
Utp18 C T 11: 93,770,973 (GRCm39) probably benign Het
Utp20 A T 10: 88,656,841 (GRCm39) D121E probably damaging Het
Vmn1r80 T A 7: 11,927,244 (GRCm39) M118K possibly damaging Het
Vmn1r84 T C 7: 12,095,794 (GRCm39) S300G probably benign Het
Other mutations in Mroh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Mroh1 APN 15 76,316,488 (GRCm39) missense probably benign 0.01
IGL02141:Mroh1 APN 15 76,330,799 (GRCm39) missense possibly damaging 0.47
IGL02146:Mroh1 APN 15 76,318,879 (GRCm39) splice site probably benign
IGL02205:Mroh1 APN 15 76,321,439 (GRCm39) missense possibly damaging 0.81
IGL02261:Mroh1 APN 15 76,313,360 (GRCm39) missense probably benign 0.03
IGL02818:Mroh1 APN 15 76,316,601 (GRCm39) splice site probably null
IGL02949:Mroh1 APN 15 76,293,168 (GRCm39) missense probably damaging 0.97
IGL02951:Mroh1 APN 15 76,311,836 (GRCm39) missense probably damaging 1.00
IGL03154:Mroh1 APN 15 76,337,038 (GRCm39) missense probably damaging 1.00
IGL02799:Mroh1 UTSW 15 76,276,661 (GRCm39) critical splice donor site probably null
R0068:Mroh1 UTSW 15 76,330,892 (GRCm39) splice site probably benign
R0068:Mroh1 UTSW 15 76,330,892 (GRCm39) splice site probably benign
R0076:Mroh1 UTSW 15 76,335,340 (GRCm39) missense probably benign 0.00
R0180:Mroh1 UTSW 15 76,312,450 (GRCm39) missense probably damaging 0.99
R0315:Mroh1 UTSW 15 76,311,800 (GRCm39) missense possibly damaging 0.94
R0350:Mroh1 UTSW 15 76,316,449 (GRCm39) missense probably damaging 0.98
R0835:Mroh1 UTSW 15 76,336,083 (GRCm39) missense probably damaging 0.96
R0893:Mroh1 UTSW 15 76,293,138 (GRCm39) missense possibly damaging 0.62
R1109:Mroh1 UTSW 15 76,330,709 (GRCm39) splice site probably benign
R1527:Mroh1 UTSW 15 76,336,463 (GRCm39) missense probably benign 0.03
R1595:Mroh1 UTSW 15 76,317,730 (GRCm39) splice site probably benign
R1900:Mroh1 UTSW 15 76,317,585 (GRCm39) missense probably benign 0.00
R1901:Mroh1 UTSW 15 76,320,249 (GRCm39) missense probably benign
R2223:Mroh1 UTSW 15 76,292,245 (GRCm39) critical splice donor site probably null
R2415:Mroh1 UTSW 15 76,305,411 (GRCm39) missense probably damaging 0.99
R3113:Mroh1 UTSW 15 76,292,736 (GRCm39) splice site probably benign
R3437:Mroh1 UTSW 15 76,317,808 (GRCm39) missense possibly damaging 0.92
R3618:Mroh1 UTSW 15 76,336,546 (GRCm39) missense possibly damaging 0.55
R3833:Mroh1 UTSW 15 76,285,819 (GRCm39) missense probably benign 0.08
R4073:Mroh1 UTSW 15 76,292,185 (GRCm39) missense probably benign 0.13
R4156:Mroh1 UTSW 15 76,286,326 (GRCm39) splice site probably null
R4276:Mroh1 UTSW 15 76,278,051 (GRCm39) missense probably damaging 1.00
R4745:Mroh1 UTSW 15 76,292,730 (GRCm39) critical splice donor site probably null
R5450:Mroh1 UTSW 15 76,316,547 (GRCm39) intron probably benign
R5574:Mroh1 UTSW 15 76,318,131 (GRCm39) missense probably benign
R5673:Mroh1 UTSW 15 76,314,381 (GRCm39) missense probably damaging 1.00
R5970:Mroh1 UTSW 15 76,335,691 (GRCm39) missense probably benign 0.24
R5993:Mroh1 UTSW 15 76,330,880 (GRCm39) missense probably damaging 0.99
R6008:Mroh1 UTSW 15 76,335,557 (GRCm39) missense possibly damaging 0.50
R6082:Mroh1 UTSW 15 76,314,423 (GRCm39) missense probably benign 0.06
R6302:Mroh1 UTSW 15 76,320,319 (GRCm39) critical splice donor site probably null
R7030:Mroh1 UTSW 15 76,321,517 (GRCm39) missense probably benign 0.01
R7098:Mroh1 UTSW 15 76,292,657 (GRCm39) nonsense probably null
R7334:Mroh1 UTSW 15 76,311,838 (GRCm39) missense probably benign 0.00
R7337:Mroh1 UTSW 15 76,335,676 (GRCm39) missense probably benign 0.00
R7352:Mroh1 UTSW 15 76,335,674 (GRCm39) missense probably benign 0.06
R7446:Mroh1 UTSW 15 76,336,472 (GRCm39) missense possibly damaging 0.93
R7453:Mroh1 UTSW 15 76,317,745 (GRCm39) missense probably damaging 1.00
R7669:Mroh1 UTSW 15 76,336,048 (GRCm39) missense possibly damaging 0.88
R7753:Mroh1 UTSW 15 76,317,475 (GRCm39) missense possibly damaging 0.62
R7860:Mroh1 UTSW 15 76,331,532 (GRCm39) missense probably benign 0.00
R7990:Mroh1 UTSW 15 76,336,475 (GRCm39) missense probably damaging 1.00
R8140:Mroh1 UTSW 15 76,318,073 (GRCm39) missense probably benign 0.00
R8325:Mroh1 UTSW 15 76,316,415 (GRCm39) frame shift probably null
R8334:Mroh1 UTSW 15 76,330,756 (GRCm39) missense probably benign
R8529:Mroh1 UTSW 15 76,311,832 (GRCm39) missense probably benign 0.00
R8544:Mroh1 UTSW 15 76,327,558 (GRCm39) nonsense probably null
R8688:Mroh1 UTSW 15 76,312,550 (GRCm39) missense probably benign 0.00
R8769:Mroh1 UTSW 15 76,297,126 (GRCm39) missense probably benign 0.00
R8782:Mroh1 UTSW 15 76,298,496 (GRCm39) missense possibly damaging 0.74
R8887:Mroh1 UTSW 15 76,331,474 (GRCm39) missense probably benign 0.43
R8934:Mroh1 UTSW 15 76,334,386 (GRCm39) missense probably benign 0.03
R9254:Mroh1 UTSW 15 76,292,215 (GRCm39) missense probably benign 0.16
R9400:Mroh1 UTSW 15 76,336,093 (GRCm39) missense possibly damaging 0.93
R9443:Mroh1 UTSW 15 76,318,964 (GRCm39) missense probably damaging 1.00
Z1177:Mroh1 UTSW 15 76,307,961 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCTTTGGACACCTGAACAAGGC -3'
(R):5'- AGAACAGGTTGGTGCTCACTAGGC -3'

Sequencing Primer
(F):5'- ATGTCTTCCTGGAGCAGGTC -3'
(R):5'- CTCACTAGGCGGCCCAG -3'
Posted On 2013-05-23