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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |