Incidental Mutation 'R7334:Mroh1'
ID |
569395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
045371-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7334 (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 76311838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 524
(I524V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000161305]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
AA Change: I524V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558 AA Change: I524V
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 benign
Transcript: ENSMUST00000096385
AA Change: I524V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: I524V
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: ENSMUST00000161305
AA Change: I524V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,776,380 (GRCm39) |
C184S |
probably damaging |
Het |
Acadm |
G |
T |
3: 153,644,698 (GRCm39) |
S9* |
probably null |
Het |
Acot10 |
C |
T |
15: 20,665,629 (GRCm39) |
V371I |
possibly damaging |
Het |
Adam8 |
T |
C |
7: 139,568,903 (GRCm39) |
E199G |
probably damaging |
Het |
Aldh18a1 |
A |
T |
19: 40,539,696 (GRCm39) |
W762R |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,599,075 (GRCm39) |
V162E |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,618,432 (GRCm39) |
D2357G |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,254,685 (GRCm39) |
Q718K |
probably damaging |
Het |
Arid5b |
A |
C |
10: 68,079,007 (GRCm39) |
V110G |
possibly damaging |
Het |
Bpifb3 |
T |
A |
2: 153,761,654 (GRCm39) |
D34E |
probably damaging |
Het |
Cacfd1 |
C |
T |
2: 26,905,558 (GRCm39) |
A85V |
possibly damaging |
Het |
Cep57l1 |
C |
A |
10: 41,597,596 (GRCm39) |
S345I |
probably benign |
Het |
Cibar2 |
T |
C |
8: 120,901,589 (GRCm39) |
T39A |
probably damaging |
Het |
Clca3b |
G |
A |
3: 144,542,417 (GRCm39) |
R462* |
probably null |
Het |
Cyp26c1 |
G |
A |
19: 37,677,323 (GRCm39) |
V251I |
probably benign |
Het |
Dip2a |
A |
G |
10: 76,110,080 (GRCm39) |
S1179P |
possibly damaging |
Het |
Dnal1 |
T |
C |
12: 84,173,780 (GRCm39) |
L27P |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,864,180 (GRCm39) |
V1288A |
unknown |
Het |
Elmod1 |
A |
T |
9: 53,841,508 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
T |
G |
1: 119,551,679 (GRCm39) |
K102T |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,980,406 (GRCm39) |
I358V |
probably benign |
Het |
Frmd3 |
A |
G |
4: 74,079,955 (GRCm39) |
I316V |
probably benign |
Het |
Fryl |
T |
C |
5: 73,204,839 (GRCm39) |
|
probably null |
Het |
Gm4131 |
T |
A |
14: 62,702,356 (GRCm39) |
H204L |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,325,806 (GRCm39) |
G4278R |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,343,147 (GRCm39) |
S4558G |
possibly damaging |
Het |
Igkv1-132 |
A |
G |
6: 67,737,108 (GRCm39) |
T25A |
probably benign |
Het |
Kcp |
T |
C |
6: 29,485,511 (GRCm39) |
E1161G |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,293,235 (GRCm39) |
I5371K |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 16,011,529 (GRCm39) |
C1670S |
probably damaging |
Het |
Mfsd13a |
T |
A |
19: 46,356,809 (GRCm39) |
V270E |
probably damaging |
Het |
Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,728,573 (GRCm39) |
R800H |
probably benign |
Het |
Ncald |
T |
A |
15: 37,397,524 (GRCm39) |
Y52F |
probably damaging |
Het |
Nherf1 |
C |
T |
11: 115,054,593 (GRCm39) |
A81V |
possibly damaging |
Het |
Nomo1 |
T |
C |
7: 45,732,692 (GRCm39) |
S1152P |
probably damaging |
Het |
Nr3c1 |
A |
G |
18: 39,620,090 (GRCm39) |
F66L |
probably benign |
Het |
Nrf1 |
T |
C |
6: 30,118,970 (GRCm39) |
L363S |
probably benign |
Het |
Or4n4 |
C |
A |
14: 50,519,036 (GRCm39) |
V225F |
probably benign |
Het |
Or8b12b |
A |
T |
9: 37,684,293 (GRCm39) |
I113F |
probably damaging |
Het |
Osbpl3 |
A |
G |
6: 50,321,886 (GRCm39) |
M300T |
possibly damaging |
Het |
Parpbp |
T |
A |
10: 87,947,617 (GRCm39) |
N339I |
probably damaging |
Het |
Pdlim5 |
A |
T |
3: 141,950,678 (GRCm39) |
H578Q |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,657,532 (GRCm39) |
N1009S |
probably damaging |
Het |
Pnpla8 |
A |
G |
12: 44,358,286 (GRCm39) |
I745M |
probably damaging |
Het |
Pom121l12 |
C |
A |
11: 14,549,681 (GRCm39) |
T129K |
probably damaging |
Het |
Ppp1r14a |
T |
C |
7: 28,992,687 (GRCm39) |
S130P |
probably damaging |
Het |
Prss12 |
A |
C |
3: 123,280,780 (GRCm39) |
L488F |
probably benign |
Het |
Psd3 |
C |
T |
8: 68,361,357 (GRCm39) |
V559I |
possibly damaging |
Het |
Rrh |
T |
C |
3: 129,602,631 (GRCm39) |
T364A |
probably benign |
Het |
Shcbp1 |
A |
T |
8: 4,791,876 (GRCm39) |
M479K |
probably damaging |
Het |
Shcbp1 |
A |
C |
8: 4,804,310 (GRCm39) |
F200C |
probably damaging |
Het |
Slx1b |
G |
T |
7: 126,291,699 (GRCm39) |
R122S |
probably damaging |
Het |
Spata31f1e |
G |
A |
4: 42,793,856 (GRCm39) |
T92I |
possibly damaging |
Het |
Spidr |
A |
G |
16: 15,932,689 (GRCm39) |
|
probably null |
Het |
St18 |
G |
A |
1: 6,872,783 (GRCm39) |
D173N |
probably benign |
Het |
Stambpl1 |
T |
C |
19: 34,204,048 (GRCm39) |
I46T |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,007,886 (GRCm39) |
D113N |
probably damaging |
Het |
Tg |
G |
A |
15: 66,597,121 (GRCm39) |
V1741I |
probably benign |
Het |
Thsd7b |
T |
A |
1: 130,123,012 (GRCm39) |
W1544R |
probably benign |
Het |
Tiam2 |
G |
A |
17: 3,553,283 (GRCm39) |
R1120H |
possibly damaging |
Het |
Tinag |
A |
T |
9: 76,908,931 (GRCm39) |
C337S |
probably damaging |
Het |
Tm4sf1 |
G |
C |
3: 57,200,510 (GRCm39) |
A64G |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,328,017 (GRCm39) |
Y572H |
unknown |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Txndc11 |
A |
G |
16: 10,946,425 (GRCm39) |
Y129H |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,553,742 (GRCm39) |
F974S |
possibly damaging |
Het |
Utrn |
C |
A |
10: 12,603,753 (GRCm39) |
|
probably null |
Het |
Vmn1r58 |
T |
A |
7: 5,414,066 (GRCm39) |
M55L |
probably benign |
Het |
Vnn1 |
T |
A |
10: 23,776,658 (GRCm39) |
S336R |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,322,829 (GRCm39) |
Y424C |
unknown |
Het |
Zfp507 |
T |
C |
7: 35,475,505 (GRCm39) |
I903V |
probably damaging |
Het |
Zfp551 |
C |
T |
7: 12,150,681 (GRCm39) |
G243R |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,448,444 (GRCm39) |
C371S |
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 |
|
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'- GATCCAGTTCTGACATCTCTACTGC -3'
(R):5'- ATGGGACCATAGGCACAAGC -3'
Sequencing Primer
(F):5'- ACATCTCTACTGCCCCGGAG -3'
(R):5'- CCATAGGCACAAGCAGGCAG -3'
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Posted On |
2019-09-13 |