Incidental Mutation 'R7334:Mroh1'
ID 569395
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 045371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7334 (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 76311838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 524 (I524V)
Ref Sequence ENSEMBL: ENSMUSP00000094115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000161305]
AlphaFold E0CZ22
Predicted Effect probably benign
Transcript: ENSMUST00000092595
AA Change: I524V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: I524V

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: I524V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: I524V

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: ENSMUST00000161305
AA Change: I524V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,380 (GRCm39) C184S probably damaging Het
Acadm G T 3: 153,644,698 (GRCm39) S9* probably null Het
Acot10 C T 15: 20,665,629 (GRCm39) V371I possibly damaging Het
Adam8 T C 7: 139,568,903 (GRCm39) E199G probably damaging Het
Aldh18a1 A T 19: 40,539,696 (GRCm39) W762R probably damaging Het
Aldh1a1 T A 19: 20,599,075 (GRCm39) V162E probably damaging Het
Alms1 A G 6: 85,618,432 (GRCm39) D2357G probably damaging Het
Arfgef1 G T 1: 10,254,685 (GRCm39) Q718K probably damaging Het
Arid5b A C 10: 68,079,007 (GRCm39) V110G possibly damaging Het
Bpifb3 T A 2: 153,761,654 (GRCm39) D34E probably damaging Het
Cacfd1 C T 2: 26,905,558 (GRCm39) A85V possibly damaging Het
Cep57l1 C A 10: 41,597,596 (GRCm39) S345I probably benign Het
Cibar2 T C 8: 120,901,589 (GRCm39) T39A probably damaging Het
Clca3b G A 3: 144,542,417 (GRCm39) R462* probably null Het
Cyp26c1 G A 19: 37,677,323 (GRCm39) V251I probably benign Het
Dip2a A G 10: 76,110,080 (GRCm39) S1179P possibly damaging Het
Dnal1 T C 12: 84,173,780 (GRCm39) L27P probably damaging Het
Dock7 A G 4: 98,864,180 (GRCm39) V1288A unknown Het
Elmod1 A T 9: 53,841,508 (GRCm39) probably null Het
Epb41l5 T G 1: 119,551,679 (GRCm39) K102T probably damaging Het
Fermt3 T C 19: 6,980,406 (GRCm39) I358V probably benign Het
Frmd3 A G 4: 74,079,955 (GRCm39) I316V probably benign Het
Fryl T C 5: 73,204,839 (GRCm39) probably null Het
Gm4131 T A 14: 62,702,356 (GRCm39) H204L possibly damaging Het
Hmcn2 G A 2: 31,325,806 (GRCm39) G4278R probably damaging Het
Hmcn2 A G 2: 31,343,147 (GRCm39) S4558G possibly damaging Het
Igkv1-132 A G 6: 67,737,108 (GRCm39) T25A probably benign Het
Kcp T C 6: 29,485,511 (GRCm39) E1161G probably damaging Het
Macf1 A T 4: 123,293,235 (GRCm39) I5371K probably damaging Het
Malrd1 T A 2: 16,011,529 (GRCm39) C1670S probably damaging Het
Mfsd13a T A 19: 46,356,809 (GRCm39) V270E probably damaging Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Myo7a C T 7: 97,728,573 (GRCm39) R800H probably benign Het
Ncald T A 15: 37,397,524 (GRCm39) Y52F probably damaging Het
Nherf1 C T 11: 115,054,593 (GRCm39) A81V possibly damaging Het
Nomo1 T C 7: 45,732,692 (GRCm39) S1152P probably damaging Het
Nr3c1 A G 18: 39,620,090 (GRCm39) F66L probably benign Het
Nrf1 T C 6: 30,118,970 (GRCm39) L363S probably benign Het
Or4n4 C A 14: 50,519,036 (GRCm39) V225F probably benign Het
Or8b12b A T 9: 37,684,293 (GRCm39) I113F probably damaging Het
Osbpl3 A G 6: 50,321,886 (GRCm39) M300T possibly damaging Het
Parpbp T A 10: 87,947,617 (GRCm39) N339I probably damaging Het
Pdlim5 A T 3: 141,950,678 (GRCm39) H578Q probably damaging Het
Pear1 T C 3: 87,657,532 (GRCm39) N1009S probably damaging Het
Pnpla8 A G 12: 44,358,286 (GRCm39) I745M probably damaging Het
Pom121l12 C A 11: 14,549,681 (GRCm39) T129K probably damaging Het
Ppp1r14a T C 7: 28,992,687 (GRCm39) S130P probably damaging Het
Prss12 A C 3: 123,280,780 (GRCm39) L488F probably benign Het
Psd3 C T 8: 68,361,357 (GRCm39) V559I possibly damaging Het
Rrh T C 3: 129,602,631 (GRCm39) T364A probably benign Het
Shcbp1 A T 8: 4,791,876 (GRCm39) M479K probably damaging Het
Shcbp1 A C 8: 4,804,310 (GRCm39) F200C probably damaging Het
Slx1b G T 7: 126,291,699 (GRCm39) R122S probably damaging Het
Spata31f1e G A 4: 42,793,856 (GRCm39) T92I possibly damaging Het
Spidr A G 16: 15,932,689 (GRCm39) probably null Het
St18 G A 1: 6,872,783 (GRCm39) D173N probably benign Het
Stambpl1 T C 19: 34,204,048 (GRCm39) I46T probably damaging Het
Syne1 C T 10: 5,007,886 (GRCm39) D113N probably damaging Het
Tg G A 15: 66,597,121 (GRCm39) V1741I probably benign Het
Thsd7b T A 1: 130,123,012 (GRCm39) W1544R probably benign Het
Tiam2 G A 17: 3,553,283 (GRCm39) R1120H possibly damaging Het
Tinag A T 9: 76,908,931 (GRCm39) C337S probably damaging Het
Tm4sf1 G C 3: 57,200,510 (GRCm39) A64G probably damaging Het
Tmprss6 A G 15: 78,328,017 (GRCm39) Y572H unknown Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Txndc11 A G 16: 10,946,425 (GRCm39) Y129H probably damaging Het
Ube3b T C 5: 114,553,742 (GRCm39) F974S possibly damaging Het
Utrn C A 10: 12,603,753 (GRCm39) probably null Het
Vmn1r58 T A 7: 5,414,066 (GRCm39) M55L probably benign Het
Vnn1 T A 10: 23,776,658 (GRCm39) S336R probably benign Het
Wwc2 T C 8: 48,322,829 (GRCm39) Y424C unknown Het
Zfp507 T C 7: 35,475,505 (GRCm39) I903V probably damaging Het
Zfp551 C T 7: 12,150,681 (GRCm39) G243R probably damaging Het
Zfp60 T A 7: 27,448,444 (GRCm39) C371S 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
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'- GATCCAGTTCTGACATCTCTACTGC -3'
(R):5'- ATGGGACCATAGGCACAAGC -3'

Sequencing Primer
(F):5'- ACATCTCTACTGCCCCGGAG -3'
(R):5'- CCATAGGCACAAGCAGGCAG -3'
Posted On 2019-09-13