Incidental Mutation 'R4073:Mroh1'
ID 316417
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 041621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4073 (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 76292185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 219 (D219G)
Ref Sequence ENSEMBL: ENSMUSP00000094115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000159218] [ENSMUST00000161305] [ENSMUST00000162319]
AlphaFold E0CZ22
Predicted Effect probably benign
Transcript: ENSMUST00000092595
AA Change: D219G

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: D219G

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 probably benign
Transcript: ENSMUST00000096385
AA Change: D219G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: D219G

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: D219G

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: D219G

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 benign
Transcript: ENSMUST00000161305
AA Change: D219G

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162319
SMART Domains Protein: ENSMUSP00000124353
Gene: ENSMUSG00000022558

DomainStartEndE-ValueType
SCOP:d1gw5a_ 4 267 9e-6 SMART
Meta Mutation Damage Score 0.3549 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 54,031,494 (GRCm39) noncoding transcript Het
Alox12 T C 11: 70,138,136 (GRCm39) N400D probably damaging Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Cbs C T 17: 31,851,979 (GRCm39) C8Y possibly damaging Het
Ccdc103 C T 11: 102,774,925 (GRCm39) R175W probably damaging Het
Clasp1 T C 1: 118,431,578 (GRCm39) F171L probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cytl1 A G 5: 37,892,940 (GRCm39) I17V unknown Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dock7 A T 4: 98,896,296 (GRCm39) S768R probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Ehhadh T C 16: 21,585,257 (GRCm39) D208G probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Erbin T C 13: 103,996,619 (GRCm39) E211G probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Gpd2 A G 2: 57,180,025 (GRCm39) R91G probably damaging Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Il23r A G 6: 67,463,106 (GRCm39) I129T probably damaging Het
Jph4 T C 14: 55,352,497 (GRCm39) S79G probably benign Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Lrrc71 G A 3: 87,652,569 (GRCm39) T185I probably benign Het
Mtor T A 4: 148,633,832 (GRCm39) S2342T probably damaging Het
Nf2 T C 11: 4,798,958 (GRCm39) S10G probably benign Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nrm T A 17: 36,172,424 (GRCm39) probably benign Het
Nsd1 T A 13: 55,395,541 (GRCm39) H1047Q probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or2t47 T C 11: 58,442,888 (GRCm39) Y59C probably damaging Het
Or4k5 A G 14: 50,385,500 (GRCm39) V277A possibly damaging Het
Or4x13 T C 2: 90,231,337 (GRCm39) F111L probably benign Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or6aa1 T A 7: 86,044,155 (GRCm39) I184F probably damaging Het
Or8b38 T C 9: 37,973,165 (GRCm39) L183P probably damaging Het
Pbx3 T C 2: 34,114,424 (GRCm39) Y112C probably damaging Het
Pde11a C T 2: 76,168,242 (GRCm39) R237H probably damaging Het
Phactr1 ACTT A 13: 43,213,245 (GRCm39) probably benign Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptgs1 C T 2: 36,127,788 (GRCm39) R116C probably damaging Het
Rab39b T C X: 74,618,658 (GRCm39) probably benign Het
Rpp25 T C 9: 57,411,592 (GRCm39) S25P probably benign Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Sbk3 G T 7: 4,973,501 (GRCm39) A41D probably damaging Het
Slc24a3 T A 2: 145,455,636 (GRCm39) probably benign Het
Slc28a3 T C 13: 58,707,104 (GRCm39) I565V probably benign Het
Slc35a3 T C 3: 116,468,887 (GRCm39) T275A probably benign Het
Spink12 A G 18: 44,237,731 (GRCm39) N3S possibly damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Taf2 A G 15: 54,915,633 (GRCm39) L431P probably damaging Het
Tas2r131 A T 6: 132,934,802 (GRCm39) Y2* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Trpv1 T C 11: 73,141,606 (GRCm39) V175A probably damaging Het
Usp21 T C 1: 171,109,746 (GRCm39) probably benign Het
Vmn1r25 A G 6: 57,955,572 (GRCm39) V239A possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfhx4 G T 3: 5,464,384 (GRCm39) C1514F probably damaging 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
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
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'- TTACCCTAAGTGTCCAGGGG -3'
(R):5'- ACTGATCATGGGCAGGGAAC -3'

Sequencing Primer
(F):5'- TAAGTGTCCAGGGGTCACCATC -3'
(R):5'- AGGGAACTTGGGTCCCCTTC -3'
Posted On 2015-05-15