Incidental Mutation 'IGL02951:Mroh1'
ID 365982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mroh1
Ensembl Gene ENSMUSG00000022558
Gene Name maestro heat-like repeat family member 1
Synonyms Heatr7a, D330001F17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02951
Quality Score
Status
Chromosome 15
Chromosomal Location 76264638-76337239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76311836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 523 (L523P)
Ref Sequence ENSEMBL: ENSMUSP00000094115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000159218] [ENSMUST00000160631] [ENSMUST00000161305]
AlphaFold E0CZ22
Predicted Effect probably damaging
Transcript: ENSMUST00000092595
AA Change: L523P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: L523P

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: L523P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: L523P

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: L523P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: L523P

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: L523P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161683
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,290,536 (GRCm39) probably benign Het
Acot10 G A 15: 20,665,868 (GRCm39) T291I probably benign Het
Adam34l T G 8: 44,080,125 (GRCm39) H33P possibly damaging Het
Atp13a3 A G 16: 30,157,439 (GRCm39) probably null Het
Atp2a1 C T 7: 126,049,399 (GRCm39) V548M possibly damaging Het
Bsn G A 9: 107,992,812 (GRCm39) S980L probably damaging Het
Ccdc158 A G 5: 92,797,865 (GRCm39) M425T probably damaging Het
Cdh23 A G 10: 60,147,143 (GRCm39) L2733S probably damaging Het
Chd3 C T 11: 69,251,874 (GRCm39) probably null Het
Cimap1d T C 10: 79,475,811 (GRCm39) N251S probably benign Het
Dock2 T C 11: 34,260,448 (GRCm39) probably benign Het
Elfn2 T C 15: 78,556,082 (GRCm39) K822E probably damaging Het
Eps15l1 G A 8: 73,112,240 (GRCm39) S764L probably benign Het
Etl4 C A 2: 20,806,348 (GRCm39) probably benign Het
Faap24 C A 7: 35,092,376 (GRCm39) K180N probably damaging Het
Fhod1 G A 8: 106,057,862 (GRCm39) R888W probably damaging Het
Fus T C 7: 127,581,009 (GRCm39) probably benign Het
Gm3453 T C 14: 5,976,168 (GRCm38) E201G possibly damaging Het
Gnpat G T 8: 125,597,644 (GRCm39) D69Y probably benign Het
Gpaa1 T A 15: 76,217,019 (GRCm39) probably benign Het
Gsta1 A T 9: 78,149,819 (GRCm39) K211* probably null Het
Lct G T 1: 128,227,948 (GRCm39) Q1182K probably damaging Het
Mrpl46 A G 7: 78,425,200 (GRCm39) probably benign Het
Mst1r G T 9: 107,785,403 (GRCm39) V354F possibly damaging Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo6 G A 9: 80,171,516 (GRCm39) V506I possibly damaging Het
Nadk A C 4: 155,671,933 (GRCm39) K271Q probably benign Het
Nbas A G 12: 13,412,542 (GRCm39) R954G probably benign Het
Nbr1 T A 11: 101,462,805 (GRCm39) probably null Het
Nup88 T C 11: 70,835,698 (GRCm39) D587G possibly damaging Het
Oas1a A T 5: 121,043,727 (GRCm39) F135Y probably damaging Het
Obscn A G 11: 58,885,339 (GRCm39) probably benign Het
Or4k42 T G 2: 111,320,465 (GRCm39) I13L probably benign Het
Parp14 G A 16: 35,678,903 (GRCm39) T355I probably benign Het
Pdgfd G T 9: 6,288,494 (GRCm39) L43F probably damaging Het
Pou5f2 T C 13: 78,173,237 (GRCm39) S60P probably benign Het
Prp2 A G 6: 132,576,788 (GRCm39) N25S unknown Het
Ptprq A T 10: 107,503,321 (GRCm39) F779Y probably benign Het
Rims2 C T 15: 39,398,334 (GRCm39) R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 (GRCm39) S425* probably null Het
Rps21 T A 2: 179,899,840 (GRCm39) I59N probably damaging Het
Scn5a A T 9: 119,324,751 (GRCm39) F1359Y probably damaging Het
Slc35b2 A G 17: 45,875,694 (GRCm39) E67G probably damaging Het
Slc37a2 A G 9: 37,166,611 (GRCm39) F15L probably benign Het
Snapc4 A C 2: 26,260,847 (GRCm39) N465K probably benign Het
Spata31f1a C T 4: 42,850,696 (GRCm39) E487K probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taco1 A G 11: 105,960,353 (GRCm39) N98S probably benign Het
Tcea3 T C 4: 135,985,299 (GRCm39) probably null Het
Thada T C 17: 84,751,456 (GRCm39) S507G probably benign Het
Tmem132b T A 5: 125,864,611 (GRCm39) C906S probably damaging Het
Trpm2 A T 10: 77,765,112 (GRCm39) I963N possibly damaging Het
Usp10 A G 8: 120,673,825 (GRCm39) T397A probably benign Het
Usp3 G A 9: 66,449,832 (GRCm39) R160* probably null Het
Utp15 T C 13: 98,394,460 (GRCm39) Y144C probably damaging Het
Xpc G A 6: 91,483,831 (GRCm39) R172W 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
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
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
Posted On 2015-12-18