Incidental Mutation 'R7753:Mroh1'
| ID |
597395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
045809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76317475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 784
(D784G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000161305]
|
| AlphaFold |
E0CZ22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092595
AA Change: D775G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: D775G
| 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 |
possibly damaging
Transcript: ENSMUST00000096385
AA Change: D784G
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: D784G
| 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 |
possibly damaging
Transcript: ENSMUST00000161305
AA Change: D775G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,074,933 (GRCm39) |
T1377A |
probably damaging |
Het |
| AI661453 |
G |
T |
17: 47,778,439 (GRCm39) |
E722* |
probably null |
Het |
| Ap2b1 |
A |
T |
11: 83,258,733 (GRCm39) |
K735* |
probably null |
Het |
| Aqp4 |
T |
C |
18: 15,533,033 (GRCm39) |
E20G |
probably benign |
Het |
| Atp6v1b1 |
G |
T |
6: 83,729,440 (GRCm39) |
V117L |
probably benign |
Het |
| C1rb |
A |
G |
6: 124,557,390 (GRCm39) |
N509S |
probably benign |
Het |
| Cep44 |
A |
G |
8: 56,985,842 (GRCm39) |
V350A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,234,680 (GRCm39) |
Q136R |
probably benign |
Het |
| Cntrl |
T |
C |
2: 35,001,691 (GRCm39) |
S32P |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,164 (GRCm39) |
E201V |
possibly damaging |
Het |
| Cyp4a14 |
G |
T |
4: 115,350,861 (GRCm39) |
Q138K |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,899,007 (GRCm39) |
Y826H |
possibly damaging |
Het |
| Dbh |
A |
G |
2: 27,061,448 (GRCm39) |
D294G |
probably benign |
Het |
| Ddx10 |
A |
T |
9: 53,136,904 (GRCm39) |
L336Q |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,371,755 (GRCm39) |
T149A |
possibly damaging |
Het |
| Epg5 |
A |
G |
18: 77,991,560 (GRCm39) |
T86A |
possibly damaging |
Het |
| Fam171a1 |
A |
T |
2: 3,179,354 (GRCm39) |
Q60L |
probably damaging |
Het |
| Farsb |
T |
A |
1: 78,456,740 (GRCm39) |
E41D |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,832,217 (GRCm39) |
D1956G |
probably benign |
Het |
| Fzd4 |
T |
A |
7: 89,056,992 (GRCm39) |
Y346* |
probably null |
Het |
| Fzd7 |
A |
T |
1: 59,522,641 (GRCm39) |
S175C |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,598,956 (GRCm39) |
T47A |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,212,550 (GRCm39) |
H24Q |
probably benign |
Het |
| Hdac7 |
A |
T |
15: 97,698,642 (GRCm39) |
N638K |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,704,369 (GRCm39) |
N515K |
probably benign |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,336 (GRCm39) |
V401A |
probably damaging |
Het |
| Ifi27l2b |
T |
A |
12: 103,417,519 (GRCm39) |
R223* |
probably null |
Het |
| Igkv4-91 |
T |
G |
6: 68,745,761 (GRCm39) |
S46R |
probably benign |
Het |
| Itk |
T |
A |
11: 46,222,722 (GRCm39) |
L582F |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,481,218 (GRCm39) |
I181V |
probably benign |
Het |
| Krtap5-2 |
GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC |
GCCACAGCCTCC |
7: 141,729,136 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
C |
A |
3: 92,925,815 (GRCm39) |
G41W |
unknown |
Het |
| Mapk10 |
T |
A |
5: 103,186,419 (GRCm39) |
K98* |
probably null |
Het |
| Mapk8ip2 |
A |
G |
15: 89,345,856 (GRCm39) |
E812G |
probably damaging |
Het |
| Mlh1 |
C |
A |
9: 111,081,931 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
T |
9: 58,863,288 (GRCm39) |
D426E |
probably benign |
Het |
| Nol4 |
T |
A |
18: 23,171,659 (GRCm39) |
M1L |
probably benign |
Het |
| Nr1h3 |
A |
G |
2: 91,015,370 (GRCm39) |
F338S |
probably damaging |
Het |
| Oasl2 |
A |
G |
5: 115,043,118 (GRCm39) |
K297E |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,141 (GRCm39) |
T238A |
probably benign |
Het |
| Or10z1 |
C |
T |
1: 174,078,236 (GRCm39) |
V86I |
probably benign |
Het |
| Or4f14 |
A |
G |
2: 111,742,927 (GRCm39) |
I116T |
probably benign |
Het |
| Or56a5 |
T |
C |
7: 104,793,007 (GRCm39) |
I164M |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,815,060 (GRCm39) |
N292S |
possibly damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,990,970 (GRCm39) |
T97A |
possibly damaging |
Het |
| P3h2 |
A |
T |
16: 25,789,687 (GRCm39) |
Y527N |
probably damaging |
Het |
| Papss2 |
A |
T |
19: 32,597,579 (GRCm39) |
H9L |
probably benign |
Het |
| Pcdha4 |
C |
A |
18: 37,086,354 (GRCm39) |
S179Y |
possibly damaging |
Het |
| Ppt1 |
A |
T |
4: 122,730,131 (GRCm39) |
D28V |
possibly damaging |
Het |
| Prkcz |
T |
A |
4: 155,357,425 (GRCm39) |
Q345L |
possibly damaging |
Het |
| Prr14l |
G |
T |
5: 32,984,597 (GRCm39) |
L1633I |
probably damaging |
Het |
| Prss51 |
T |
A |
14: 64,333,376 (GRCm39) |
V13D |
possibly damaging |
Het |
| Qrich2 |
TTGCAACACACCAGGCTGAACTGGACCTTGCTG |
TTG |
11: 116,347,868 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,239,141 (GRCm39) |
I122T |
possibly damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,855,817 (GRCm39) |
D485V |
probably damaging |
Het |
| Sprr3 |
G |
A |
3: 92,364,415 (GRCm39) |
P143L |
probably benign |
Het |
| Sugct |
A |
T |
13: 17,752,104 (GRCm39) |
S181T |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 76,085,697 (GRCm39) |
R141Q |
probably benign |
Het |
| Taok1 |
T |
C |
11: 77,428,725 (GRCm39) |
I992V |
probably benign |
Het |
| Tbc1d21 |
A |
C |
9: 58,269,306 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,559,818 (GRCm39) |
D1453G |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,852,156 (GRCm39) |
L104S |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,302,755 (GRCm39) |
Y72S |
probably damaging |
Het |
| Tmem98 |
A |
G |
11: 80,705,137 (GRCm39) |
E75G |
probably damaging |
Het |
| Tox3 |
A |
G |
8: 90,975,560 (GRCm39) |
L357P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,197,603 (GRCm39) |
V4492A |
unknown |
Het |
| Ulk4 |
A |
G |
9: 121,095,578 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
G |
1: 188,175,603 (GRCm39) |
T1234A |
probably benign |
Het |
| Usp53 |
G |
A |
3: 122,742,887 (GRCm39) |
T683I |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,837,442 (GRCm39) |
I2701F |
probably damaging |
Het |
| Vmn2r72 |
G |
A |
7: 85,399,834 (GRCm39) |
A405V |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,806,663 (GRCm39) |
T537S |
possibly damaging |
Het |
| Vstm2a |
G |
T |
11: 16,213,040 (GRCm39) |
A142S |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,374,895 (GRCm39) |
D785G |
probably benign |
Het |
| Zfp397 |
A |
T |
18: 24,090,129 (GRCm39) |
Q144H |
probably benign |
Het |
| Zfp518a |
A |
T |
19: 40,904,249 (GRCm39) |
T1393S |
possibly 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 |
|
R7669:Mroh1
|
UTSW |
15 |
76,336,048 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- GAACTTCAGGTCCTAGGTTTCTC -3'
(R):5'- CCCATCTCTCCCATGAAGTG -3'
Sequencing Primer
(F):5'- AGGTCCTAGGTTTCTCCTCAGTCAG -3'
(R):5'- CCATGAAGTGGGTGGTTGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation