Incidental Mutation 'R0350:Mroh1'
ID 29669
Institutional Source Beutler Lab
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
MMRRC Submission 038557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0350 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76316449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 759 (V759E)
Ref Sequence ENSEMBL: ENSMUSP00000154882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000159218] [ENSMUST00000160631] [ENSMUST00000161305]
AlphaFold E0CZ22
Predicted Effect probably damaging
Transcript: ENSMUST00000092595
AA Change: V759E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: V759E

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 damaging
Transcript: ENSMUST00000096385
AA Change: V759E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: V759E

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 damaging
Transcript: ENSMUST00000159218
AA Change: V759E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: V759E

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: ENSMUST00000160631
SMART Domains Protein: ENSMUSP00000123806
Gene: ENSMUSG00000022558

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160986
Predicted Effect probably damaging
Transcript: ENSMUST00000161305
AA Change: V759E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183412
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,037,600 (GRCm39) Y66N probably damaging Het
Apol6 C T 15: 76,935,147 (GRCm39) Q139* probably null Het
Armh1 C A 4: 117,072,753 (GRCm39) E244* probably null Het
Cd1d1 A T 3: 86,904,880 (GRCm39) H219Q probably benign Het
Cdca2 A G 14: 67,950,568 (GRCm39) L121P probably benign Het
Cdin1 T C 2: 115,607,411 (GRCm39) Y255H possibly damaging Het
Cog4 T A 8: 111,580,328 (GRCm39) L133I possibly damaging Het
Csf1 T C 3: 107,655,922 (GRCm39) M370V probably benign Het
Ddi2 G A 4: 141,412,834 (GRCm39) T26M probably benign Het
Dhcr7 A G 7: 143,391,507 (GRCm39) D32G probably damaging Het
Efcab3 T C 11: 104,581,706 (GRCm39) V16A probably benign Het
Exd1 T C 2: 119,354,047 (GRCm39) N337S possibly damaging Het
Flii T C 11: 60,612,683 (GRCm39) D227G probably damaging Het
Hsf1 A G 15: 76,384,679 (GRCm39) T485A probably benign Het
Igfn1 G A 1: 135,884,505 (GRCm39) R2614* probably null Het
Iqch T C 9: 63,408,158 (GRCm39) T630A probably benign Het
Itgal T A 7: 126,921,253 (GRCm39) D770E probably damaging Het
Mrps17 A G 5: 129,795,209 (GRCm39) probably benign Het
Mtpap A G 18: 4,396,195 (GRCm39) S496G possibly damaging Het
Nkd1 T A 8: 89,311,844 (GRCm39) Y39* probably null Het
Nmd3 A G 3: 69,650,907 (GRCm39) Y359C probably damaging Het
Nr1h3 G A 2: 91,022,170 (GRCm39) L153F possibly damaging Het
Nuf2 T A 1: 169,341,112 (GRCm39) probably null Het
Or4b1b T C 2: 90,112,926 (GRCm39) probably null Het
Or4c113 T A 2: 88,885,700 (GRCm39) K23N probably benign Het
Or8b12i A T 9: 20,082,032 (GRCm39) Y278* probably null Het
Pnn T C 12: 59,113,903 (GRCm39) probably null Het
Ppm1j A G 3: 104,690,687 (GRCm39) D230G probably benign Het
Ppp1r15a A T 7: 45,172,442 (GRCm39) L650Q probably damaging Het
Prss37 T C 6: 40,491,893 (GRCm39) E229G probably damaging Het
Rbm19 T C 5: 120,266,372 (GRCm39) V465A possibly damaging Het
Rubcnl G T 14: 75,278,331 (GRCm39) V372F probably damaging Het
Sema6a G T 18: 47,403,785 (GRCm39) D595E probably benign Het
Slc35c1 A G 2: 92,289,377 (GRCm39) F43S probably damaging Het
Slc39a5 C T 10: 128,232,619 (GRCm39) probably null Het
Slco4c1 A G 1: 96,756,574 (GRCm39) F583L probably benign Het
Sox9 A G 11: 112,675,702 (GRCm39) Y297C probably damaging Het
Taf1b A G 12: 24,564,884 (GRCm39) D167G possibly damaging Het
Trpm6 T C 19: 18,861,321 (GRCm39) probably null Het
Uba6 A C 5: 86,292,237 (GRCm39) V402G possibly damaging Het
Usp43 T C 11: 67,767,324 (GRCm39) Y682C probably damaging Het
Vmn1r195 A G 13: 22,463,403 (GRCm39) D291G probably damaging Het
Xpr1 A T 1: 155,206,214 (GRCm39) F156Y probably damaging Het
Yju2b C T 8: 84,987,277 (GRCm39) E99K probably damaging Het
Zfp318 T A 17: 46,724,124 (GRCm39) H2042Q probably benign Het
Zfp937 T A 2: 150,081,222 (GRCm39) D417E 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
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
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'- CTCAGCCCTTTCTTGCAACCAAATG -3'
(R):5'- GTCGGTCGCCATACACTATACCTTG -3'

Sequencing Primer
(F):5'- AACCAAATGGTTCCCGGTG -3'
(R):5'- GCCATACACTATACCTTGGTCTC -3'
Posted On 2013-04-24