Incidental Mutation 'R7669:Mroh1'
ID 592066
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 045741-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7669 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76336048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1474 (H1474R)
Ref Sequence ENSEMBL: ENSMUSP00000094115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023217] [ENSMUST00000096385]
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 possibly damaging
Transcript: ENSMUST00000096385
AA Change: H1474R

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: H1474R

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: ENSMUST00000161265
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C T 17: 45,831,221 (GRCm39) P930S probably benign Het
Ada T A 2: 163,570,111 (GRCm39) K301* probably null Het
Alb T C 5: 90,611,850 (GRCm39) L93P possibly damaging Het
Aldh1l1 G A 6: 90,547,844 (GRCm39) G435S probably benign Het
Alox12b A T 11: 69,060,167 (GRCm39) I627F probably benign Het
Aloxe3 A G 11: 69,025,946 (GRCm39) I503V probably benign Het
Arhgap29 C T 3: 121,786,461 (GRCm39) A342V probably damaging Het
BC024139 G A 15: 76,004,768 (GRCm39) P636L possibly damaging Het
Bmp6 G T 13: 38,668,896 (GRCm39) R293L probably damaging Het
Cfd G A 10: 79,727,447 (GRCm39) probably null Het
Csmd1 C T 8: 15,967,273 (GRCm39) A3197T probably damaging Het
Flii G A 11: 60,613,490 (GRCm39) L166F probably damaging Het
Fmn1 T A 2: 113,195,822 (GRCm39) N507K unknown Het
Foxe1 C A 4: 46,344,545 (GRCm39) R118S possibly damaging Het
Fras1 T C 5: 96,840,483 (GRCm39) V1646A probably benign Het
Gm14496 A G 2: 181,637,711 (GRCm39) T262A possibly damaging Het
Gpbp1 A T 13: 111,575,658 (GRCm39) S282T probably benign Het
Gria4 A T 9: 4,462,029 (GRCm39) N641K probably damaging Het
Grin2a T G 16: 9,810,327 (GRCm39) N24T probably benign Het
Gstm2 T G 3: 107,892,992 (GRCm39) D40A probably benign Het
Heatr1 T A 13: 12,426,143 (GRCm39) I657N probably benign Het
Kmt2b T C 7: 30,282,656 (GRCm39) E1102G possibly damaging Het
Macroh2a1 T C 13: 56,276,146 (GRCm39) Y39C probably damaging Het
Mgam T A 6: 40,635,944 (GRCm39) N366K probably benign Het
Mier2 A T 10: 79,385,510 (GRCm39) V35E probably damaging Het
Mlxipl T C 5: 135,161,224 (GRCm39) F381S possibly damaging Het
Mtrf1l G T 10: 5,765,620 (GRCm39) A239E probably damaging Het
Nbea G T 3: 55,625,200 (GRCm39) A2297E probably damaging Het
Nectin4 A G 1: 171,207,827 (GRCm39) E73G probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Nfia G A 4: 97,671,742 (GRCm39) V151I probably damaging Het
Nol6 A G 4: 41,118,717 (GRCm39) L720P probably damaging Het
Or6c203 A G 10: 129,010,128 (GRCm39) F254S probably damaging Het
Or7e165 A G 9: 19,694,839 (GRCm39) N137D possibly damaging Het
Patj A G 4: 98,407,179 (GRCm39) E1054G probably damaging Het
Pcnx1 A G 12: 82,037,325 (GRCm39) D1861G probably damaging Het
Prss12 A G 3: 123,241,045 (GRCm39) T80A probably benign Het
Scart2 A G 7: 139,876,234 (GRCm39) S569G possibly damaging Het
Sgsm1 C A 5: 113,400,890 (GRCm39) R1000L probably damaging Het
Sulf2 T C 2: 165,935,516 (GRCm39) D199G possibly damaging Het
Suox T C 10: 128,506,780 (GRCm39) D416G probably benign Het
Syne1 G A 10: 5,011,531 (GRCm39) T38M probably damaging Het
Tcf7l2 T A 19: 55,912,975 (GRCm39) C421* probably null Het
Tex55 C T 16: 38,648,453 (GRCm39) D219N possibly damaging Het
Traf7 C A 17: 24,732,282 (GRCm39) G143* probably null Het
Trappc12 T C 12: 28,761,957 (GRCm39) I544V probably benign Het
Trmt1 G A 8: 85,424,180 (GRCm39) V434I probably benign Het
Ttc5 T C 14: 51,014,787 (GRCm39) H160R probably benign Het
Xirp2 T A 2: 67,342,521 (GRCm39) H1587Q probably benign Het
Zfp523 C T 17: 28,420,015 (GRCm39) T220M probably damaging Het
Zfp804b A T 5: 6,819,362 (GRCm39) S1234T 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
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
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'- CCAACACCAATGATCGAATCTTCTG -3'
(R):5'- CAAACTTGCAGGCCTGTGAG -3'

Sequencing Primer
(F):5'- CAATGATCGAATCTTCTGTGTTAGCC -3'
(R):5'- ACTTGCAGGCCTGTGAGATAATG -3'
Posted On 2019-11-12