Incidental Mutation 'R1527:Mroh1'
ID |
166309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
039567-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1527 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76336463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1553
(D1553G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124811
(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
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000096385
AA Change: D1562G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: D1562G
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 benign
Transcript: ENSMUST00000159218
AA Change: D1553G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: D1553G
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: ENSMUST00000160525
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059E24Rik |
C |
A |
19: 21,575,633 (GRCm39) |
C130F |
probably damaging |
Het |
4933402N03Rik |
T |
C |
7: 130,740,589 (GRCm39) |
D209G |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,738,970 (GRCm39) |
V744A |
probably benign |
Het |
Atr |
G |
T |
9: 95,752,096 (GRCm39) |
R571I |
possibly damaging |
Het |
C5ar1 |
A |
G |
7: 15,982,118 (GRCm39) |
Y301H |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,829,753 (GRCm39) |
I954T |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,101,795 (GRCm39) |
F42S |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,425,408 (GRCm39) |
V789A |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,140,362 (GRCm39) |
L622* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,811,483 (GRCm39) |
T1203A |
probably benign |
Het |
Cxcl17 |
A |
G |
7: 25,101,636 (GRCm39) |
V67A |
possibly damaging |
Het |
Ddx4 |
T |
C |
13: 112,758,773 (GRCm39) |
T263A |
possibly damaging |
Het |
Eps8l1 |
A |
G |
7: 4,474,393 (GRCm39) |
D288G |
probably benign |
Het |
Fbxl4 |
A |
G |
4: 22,386,154 (GRCm39) |
K254E |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,425,123 (GRCm39) |
S245P |
probably damaging |
Het |
Gm11111 |
T |
C |
5: 98,701,387 (GRCm39) |
|
probably benign |
Het |
Haus3 |
A |
T |
5: 34,311,397 (GRCm39) |
H544Q |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,649,554 (GRCm39) |
V644A |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,114,264 (GRCm39) |
L2P |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mga |
A |
G |
2: 119,747,078 (GRCm39) |
T410A |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,001,740 (GRCm39) |
D584G |
probably damaging |
Het |
Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
Myof |
T |
C |
19: 37,913,067 (GRCm39) |
Y1462C |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,784,718 (GRCm39) |
C144R |
probably damaging |
Het |
Obox1 |
T |
C |
7: 15,289,250 (GRCm39) |
V55A |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,720 (GRCm39) |
H65L |
possibly damaging |
Het |
Or4a69 |
C |
T |
2: 89,312,876 (GRCm39) |
G201D |
probably benign |
Het |
Or6c69c |
T |
A |
10: 129,911,061 (GRCm39) |
S261T |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,662 (GRCm39) |
|
probably benign |
Het |
Prr14l |
C |
T |
5: 32,985,293 (GRCm39) |
V1401I |
possibly damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,905,130 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,698,818 (GRCm39) |
V1105D |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
A |
T |
11: 74,744,674 (GRCm39) |
C848* |
probably null |
Het |
Slc39a10 |
A |
T |
1: 46,858,422 (GRCm39) |
V625E |
probably benign |
Het |
Spry4 |
C |
T |
18: 38,723,630 (GRCm39) |
M44I |
probably benign |
Het |
Stat5b |
A |
T |
11: 100,699,220 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
C |
6: 42,412,070 (GRCm39) |
I201T |
probably benign |
Het |
Tasor |
T |
C |
14: 27,202,050 (GRCm39) |
|
probably null |
Het |
Tex44 |
A |
G |
1: 86,355,368 (GRCm39) |
T426A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,950 (GRCm39) |
D807G |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,949 (GRCm39) |
N80S |
probably benign |
Het |
Trpm7 |
A |
C |
2: 126,672,082 (GRCm39) |
H579Q |
probably benign |
Het |
Ufd1 |
T |
C |
16: 18,633,661 (GRCm39) |
S29P |
probably damaging |
Het |
Ugt2a3 |
G |
T |
5: 87,473,457 (GRCm39) |
Q487K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,552,964 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- CTCAGCATCCCATTATCTCACAGGC -3'
(R):5'- CTACAATGAGCTGTTCCAGGTCCAC -3'
Sequencing Primer
(F):5'- TGTCCCCCACCTGGAATG -3'
(R):5'- TGTTCCAGGTCCACCTGAG -3'
|
Posted On |
2014-04-13 |