Incidental Mutation 'R6008:Mroh1'
ID 479617
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 044185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6008 (G1)
Quality Score 172.009
Status Validated
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76335557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1400 (H1400L)
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: H1400L

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: H1400L

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: H1391L

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: H1391L

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: ENSMUST00000161683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161352
Predicted Effect probably benign
Transcript: ENSMUST00000161265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229897
Meta Mutation Damage Score 0.2203 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,727,978 (GRCm39) L1268P possibly damaging Het
Acot3 T A 12: 84,103,860 (GRCm39) V223E probably damaging Het
Afap1 T G 5: 36,154,895 (GRCm39) S680A probably damaging Het
Aox1 C T 1: 58,116,672 (GRCm39) A801V probably damaging Het
Atp8b1 G T 18: 64,710,687 (GRCm39) T155K probably damaging Het
Bard1 C A 1: 71,069,909 (GRCm39) V690F possibly damaging Het
Btnl9 C A 11: 49,073,792 (GRCm39) probably null Het
C1rl A G 6: 124,470,147 (GRCm39) N13S probably benign Het
Cad C A 5: 31,226,456 (GRCm39) T1166K probably damaging Het
Ckap5 T A 2: 91,393,334 (GRCm39) M405K probably damaging Het
Csn1s1 T C 5: 87,825,944 (GRCm39) probably null Het
Ctnna2 A G 6: 76,892,811 (GRCm39) L792P probably damaging Het
Dennd3 T A 15: 73,438,929 (GRCm39) V1099D possibly damaging Het
Dnai2 A G 11: 114,643,816 (GRCm39) N482S probably benign Het
Dock10 T C 1: 80,583,890 (GRCm39) T184A probably damaging Het
Ear2 T A 14: 44,340,546 (GRCm39) L68H probably damaging Het
Edn3 A G 2: 174,621,525 (GRCm39) T149A probably benign Het
Erf C T 7: 24,945,041 (GRCm39) V131M probably benign Het
Esp34 A G 17: 38,865,118 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gpr17 T A 18: 32,080,530 (GRCm39) T178S probably benign Het
Gsg1l2 T A 11: 67,665,537 (GRCm39) I35N possibly damaging Het
Hmgn3 T A 9: 82,994,284 (GRCm39) T46S probably damaging Het
Hydin A C 8: 111,325,717 (GRCm39) I4709L probably benign Het
Ifna9 A T 4: 88,510,600 (GRCm39) L8Q probably null Het
Iftap A T 2: 101,413,898 (GRCm39) M133K possibly damaging Het
Kpna4 T C 3: 69,034,066 (GRCm39) E125G probably null Het
Lrriq1 A G 10: 103,006,325 (GRCm39) S1267P probably damaging Het
Mab21l1 G T 3: 55,690,518 (GRCm39) C35F possibly damaging Het
Map3k2 A G 18: 32,336,104 (GRCm39) D97G probably damaging Het
Matcap2 G A 9: 22,335,422 (GRCm39) W13* probably null Het
Mdn1 T A 4: 32,741,073 (GRCm39) I3799N probably damaging Het
Mki67 G A 7: 135,299,158 (GRCm39) R1959C probably damaging Het
Mroh4 T A 15: 74,497,321 (GRCm39) K167* probably null Het
Mroh8 A G 2: 157,094,984 (GRCm39) I334T probably benign Het
Or51a25 T A 7: 102,373,574 (GRCm39) Y41F probably damaging Het
Phf11d T A 14: 59,602,898 (GRCm39) probably benign Het
Phf21a C T 2: 92,182,097 (GRCm39) T342I possibly damaging Het
Pira12 G T 7: 3,897,599 (GRCm39) H499N probably damaging Het
Plekhh3 T C 11: 101,055,591 (GRCm39) E483G possibly damaging Het
Ppp1r3b G A 8: 35,851,355 (GRCm39) A65T probably damaging Het
Pramel30 C T 4: 144,057,777 (GRCm39) T128I probably benign Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Pum1 T C 4: 130,496,158 (GRCm39) V961A probably damaging Het
Scgb2b27 T C 7: 33,711,561 (GRCm39) E96G probably benign Het
Sel1l2 T A 2: 140,086,025 (GRCm39) E522V probably damaging Het
Socs4 T G 14: 47,527,618 (GRCm39) C184W probably damaging Het
Spdye4c A T 2: 128,438,553 (GRCm39) I304F probably benign Het
Sptbn2 A G 19: 4,789,306 (GRCm39) I1249V possibly damaging Het
Sys1 T C 2: 164,306,507 (GRCm39) S154P probably benign Het
Taf6l T C 19: 8,755,530 (GRCm39) Q275R possibly damaging Het
Tas2r107 A G 6: 131,636,875 (GRCm39) V58A possibly damaging Het
Thada T A 17: 84,744,062 (GRCm39) I749F probably damaging Het
Tubb1 T A 2: 174,299,567 (GRCm39) H416Q probably benign Het
Vmn2r109 G A 17: 20,760,981 (GRCm39) T792I probably damaging Het
Zfp988 A G 4: 147,416,259 (GRCm39) Q231R probably benign Het
Zmynd8 T C 2: 165,684,707 (GRCm39) I182V possibly damaging Het
Zzz3 T C 3: 152,133,788 (GRCm39) V282A 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
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
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'- AAAGGATTCCAGTGCCAGC -3'
(R):5'- TACACTGTCAAAGAAGGGCCG -3'

Sequencing Primer
(F):5'- ATTCCAGTGCCAGCGTACG -3'
(R):5'- TCAAAGAAGGGCCGGATGC -3'
Posted On 2017-06-26