Incidental Mutation 'R7669:Mroh1'
ID |
592066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
045741-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7669 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76336048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 1474
(H1474R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023217]
[ENSMUST00000096385]
|
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 |
possibly damaging
Transcript: ENSMUST00000096385
AA Change: H1474R
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: H1474R
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: ENSMUST00000161265
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
T |
17: 45,831,221 (GRCm39) |
P930S |
probably benign |
Het |
Ada |
T |
A |
2: 163,570,111 (GRCm39) |
K301* |
probably null |
Het |
Alb |
T |
C |
5: 90,611,850 (GRCm39) |
L93P |
possibly damaging |
Het |
Aldh1l1 |
G |
A |
6: 90,547,844 (GRCm39) |
G435S |
probably benign |
Het |
Alox12b |
A |
T |
11: 69,060,167 (GRCm39) |
I627F |
probably benign |
Het |
Aloxe3 |
A |
G |
11: 69,025,946 (GRCm39) |
I503V |
probably benign |
Het |
Arhgap29 |
C |
T |
3: 121,786,461 (GRCm39) |
A342V |
probably damaging |
Het |
BC024139 |
G |
A |
15: 76,004,768 (GRCm39) |
P636L |
possibly damaging |
Het |
Bmp6 |
G |
T |
13: 38,668,896 (GRCm39) |
R293L |
probably damaging |
Het |
Cfd |
G |
A |
10: 79,727,447 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,967,273 (GRCm39) |
A3197T |
probably damaging |
Het |
Flii |
G |
A |
11: 60,613,490 (GRCm39) |
L166F |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,195,822 (GRCm39) |
N507K |
unknown |
Het |
Foxe1 |
C |
A |
4: 46,344,545 (GRCm39) |
R118S |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,840,483 (GRCm39) |
V1646A |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,637,711 (GRCm39) |
T262A |
possibly damaging |
Het |
Gpbp1 |
A |
T |
13: 111,575,658 (GRCm39) |
S282T |
probably benign |
Het |
Gria4 |
A |
T |
9: 4,462,029 (GRCm39) |
N641K |
probably damaging |
Het |
Grin2a |
T |
G |
16: 9,810,327 (GRCm39) |
N24T |
probably benign |
Het |
Gstm2 |
T |
G |
3: 107,892,992 (GRCm39) |
D40A |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,426,143 (GRCm39) |
I657N |
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,282,656 (GRCm39) |
E1102G |
possibly damaging |
Het |
Macroh2a1 |
T |
C |
13: 56,276,146 (GRCm39) |
Y39C |
probably damaging |
Het |
Mgam |
T |
A |
6: 40,635,944 (GRCm39) |
N366K |
probably benign |
Het |
Mier2 |
A |
T |
10: 79,385,510 (GRCm39) |
V35E |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,161,224 (GRCm39) |
F381S |
possibly damaging |
Het |
Mtrf1l |
G |
T |
10: 5,765,620 (GRCm39) |
A239E |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,625,200 (GRCm39) |
A2297E |
probably damaging |
Het |
Nectin4 |
A |
G |
1: 171,207,827 (GRCm39) |
E73G |
probably benign |
Het |
Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
Nfia |
G |
A |
4: 97,671,742 (GRCm39) |
V151I |
probably damaging |
Het |
Nol6 |
A |
G |
4: 41,118,717 (GRCm39) |
L720P |
probably damaging |
Het |
Or6c203 |
A |
G |
10: 129,010,128 (GRCm39) |
F254S |
probably damaging |
Het |
Or7e165 |
A |
G |
9: 19,694,839 (GRCm39) |
N137D |
possibly damaging |
Het |
Patj |
A |
G |
4: 98,407,179 (GRCm39) |
E1054G |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,241,045 (GRCm39) |
T80A |
probably benign |
Het |
Scart2 |
A |
G |
7: 139,876,234 (GRCm39) |
S569G |
possibly damaging |
Het |
Sgsm1 |
C |
A |
5: 113,400,890 (GRCm39) |
R1000L |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,935,516 (GRCm39) |
D199G |
possibly damaging |
Het |
Suox |
T |
C |
10: 128,506,780 (GRCm39) |
D416G |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,011,531 (GRCm39) |
T38M |
probably damaging |
Het |
Tcf7l2 |
T |
A |
19: 55,912,975 (GRCm39) |
C421* |
probably null |
Het |
Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
Traf7 |
C |
A |
17: 24,732,282 (GRCm39) |
G143* |
probably null |
Het |
Trappc12 |
T |
C |
12: 28,761,957 (GRCm39) |
I544V |
probably benign |
Het |
Trmt1 |
G |
A |
8: 85,424,180 (GRCm39) |
V434I |
probably benign |
Het |
Ttc5 |
T |
C |
14: 51,014,787 (GRCm39) |
H160R |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,342,521 (GRCm39) |
H1587Q |
probably benign |
Het |
Zfp523 |
C |
T |
17: 28,420,015 (GRCm39) |
T220M |
probably damaging |
Het |
Zfp804b |
A |
T |
5: 6,819,362 (GRCm39) |
S1234T |
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 |
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 |
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 |
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'- CCAACACCAATGATCGAATCTTCTG -3'
(R):5'- CAAACTTGCAGGCCTGTGAG -3'
Sequencing Primer
(F):5'- CAATGATCGAATCTTCTGTGTTAGCC -3'
(R):5'- ACTTGCAGGCCTGTGAGATAATG -3'
|
Posted On |
2019-11-12 |