Incidental Mutation 'R2415:Mroh1'
ID 248984
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 040379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2415 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76305411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 405 (K405E)
Ref Sequence ENSEMBL: ENSMUSP00000124811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000159218] [ENSMUST00000161305]
AlphaFold E0CZ22
Predicted Effect probably damaging
Transcript: ENSMUST00000092595
AA Change: K405E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: K405E

DomainStartEndE-ValueType
SCOP:d1gw5a_ 4 435 4e-10 SMART
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
Predicted Effect possibly damaging
Transcript: ENSMUST00000096385
AA Change: K405E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: K405E

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 damaging
Transcript: ENSMUST00000159218
AA Change: K405E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: K405E

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: ENSMUST00000160986
Predicted Effect probably damaging
Transcript: ENSMUST00000161305
AA Change: K405E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.4940 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano6 A T 15: 95,860,161 (GRCm39) N761I probably damaging Het
Atad5 T C 11: 79,985,077 (GRCm39) S55P probably damaging Het
Cul9 T A 17: 46,854,364 (GRCm39) T113S probably benign Het
Ddx56 G A 11: 6,211,727 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,070,186 (GRCm39) V467A probably damaging Het
Efhb A T 17: 53,770,124 (GRCm39) F62I probably benign Het
Efl1 T A 7: 82,347,175 (GRCm39) M567K probably damaging Het
Fbxw21 G T 9: 108,985,469 (GRCm39) A103E possibly damaging Het
Flnb T A 14: 7,929,932 (GRCm38) S2021T probably benign Het
Gabpa T C 16: 84,641,256 (GRCm39) probably null Het
Grid1 A T 14: 35,172,326 (GRCm39) I611F possibly damaging Het
Hdac1 A C 4: 129,416,754 (GRCm39) probably null Het
Kcnk5 T C 14: 20,191,880 (GRCm39) E427G possibly damaging Het
Kcnu1 A T 8: 26,400,906 (GRCm39) T685S probably benign Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Ky G T 9: 102,419,090 (GRCm39) G366W probably damaging Het
Limch1 T C 5: 67,131,977 (GRCm39) S147P probably damaging Het
Myo15b T G 11: 115,770,390 (GRCm39) F67V probably benign Het
Nlrp4c A G 7: 6,069,047 (GRCm39) D316G probably damaging Het
Nudt12 A G 17: 59,313,603 (GRCm39) V325A probably damaging Het
Pdia4 G T 6: 47,783,490 (GRCm39) D184E probably benign Het
Per3 A C 4: 151,097,147 (GRCm39) F793V possibly damaging Het
Pla1a T A 16: 38,228,112 (GRCm39) Y255F possibly damaging Het
Rxfp1 A G 3: 79,570,626 (GRCm39) S269P probably benign Het
S100pbp A T 4: 129,075,614 (GRCm39) V118D possibly damaging Het
Sec24b A T 3: 129,789,729 (GRCm39) I764N probably benign Het
Sh3bp1 C T 15: 78,785,361 (GRCm39) probably benign Het
Surf6 C T 2: 26,782,274 (GRCm39) R351H probably damaging Het
Tspan15 A G 10: 62,037,570 (GRCm39) I115T probably benign Het
Vmn2r73 T C 7: 85,521,431 (GRCm39) Y179C probably damaging Het
Zfp750 T C 11: 121,403,305 (GRCm39) D481G 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
R0399:Mroh1 UTSW 15 76,336,299 (GRCm39) missense probably benign 0.44
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
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'- CTTCGACATGAGGACCAAGTGAG -3'
(R):5'- AGGTGCCTTTGGTTCGCTAC -3'

Sequencing Primer
(F):5'- AAGTGAGGCCAGACCCTTTG -3'
(R):5'- TACCGGTTCACTAAGACAACGTGG -3'
Posted On 2014-11-12