Incidental Mutation 'R3618:Mroh1'
ID 268529
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 040675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R3618 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76336546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1590 (T1590A)
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 possibly damaging
Transcript: ENSMUST00000096385
AA Change: T1590A

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: T1590A

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: T1581A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: T1581A

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: ENSMUST00000161683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161352
Predicted Effect probably benign
Transcript: ENSMUST00000161265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229633
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,168 (GRCm39) E1119G probably damaging Het
Ahnak2 A G 12: 112,749,842 (GRCm39) I132T probably damaging Het
Arhgap29 G A 3: 121,782,176 (GRCm39) D63N possibly damaging Het
Bsn T A 9: 107,994,760 (GRCm39) probably null Het
Cfap161 A C 7: 83,429,390 (GRCm39) Y209* probably null Het
Drp2 A C X: 133,340,717 (GRCm39) D458A probably benign Het
Efcab6 T C 15: 83,834,270 (GRCm39) H446R probably benign Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
F13a1 G A 13: 37,127,967 (GRCm39) T337I probably damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Hcfc1 A T X: 72,993,694 (GRCm39) V1157D probably benign Het
Inava A C 1: 136,142,110 (GRCm39) V663G probably benign Het
Ino80 T C 2: 119,277,353 (GRCm39) D374G probably null Het
Kif1a T C 1: 93,004,765 (GRCm39) E143G probably null Het
Larp1 A T 11: 57,948,172 (GRCm39) E990D probably benign Het
Larp7 C A 3: 127,330,614 (GRCm39) E568* probably null Het
Ltn1 A T 16: 87,217,787 (GRCm39) S298R probably damaging Het
Mcm10 A G 2: 5,001,913 (GRCm39) probably null Het
Mef2a G A 7: 66,918,075 (GRCm39) S111L probably benign Het
Ncoa6 A T 2: 155,249,709 (GRCm39) H1198Q possibly damaging Het
Ogg1 A G 6: 113,305,334 (GRCm39) E49G probably damaging Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Parp3 T C 9: 106,352,262 (GRCm39) E88G possibly damaging Het
Ptprs A G 17: 56,735,965 (GRCm39) I156T probably benign Het
Pus7l T A 15: 94,425,788 (GRCm39) I538F probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Ryr2 C T 13: 11,787,466 (GRCm39) probably null Het
Slc8a2 A G 7: 15,886,824 (GRCm39) N656D possibly damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tbcel T C 9: 42,372,591 (GRCm39) probably benign Het
Trpv3 A T 11: 73,186,281 (GRCm39) I691F probably damaging Het
Uba2 A G 7: 33,853,907 (GRCm39) probably null Het
Usp53 A C 3: 122,728,061 (GRCm39) S840R probably benign Het
Vmn2r100 A T 17: 19,743,692 (GRCm39) I452F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Zfp42 T C 8: 43,748,938 (GRCm39) R188G possibly 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
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'- ATTCCACGTGCAAGCACCTG -3'
(R):5'- AAAATCACTTAGTCCCTGCGG -3'

Sequencing Primer
(F):5'- TGCAAGCACCTGGTGAG -3'
(R):5'- TGCCTACAGGGTCAGCAGAG -3'
Posted On 2015-02-19