Incidental Mutation 'R9219:Mroh3'
| ID |
699346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh3
|
| Ensembl Gene |
ENSMUSG00000087230 |
| Gene Name |
maestro heat-like repeat family member 3 |
| Synonyms |
2310006M14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R9219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136109390-136140566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136119377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 469
(F469L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168561]
[ENSMUST00000212798]
|
| AlphaFold |
A0A1D5RM54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168561
|
| SMART Domains |
Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
126 |
669 |
2e-7 |
SMART |
|
low complexity region
|
677 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212798
AA Change: F469L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
A |
T |
10: 102,858,121 (GRCm39) |
Y193N |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,008,101 (GRCm39) |
F116S |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,796,376 (GRCm39) |
M801L |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,334,317 (GRCm39) |
V992A |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,567,184 (GRCm39) |
R1322S |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,212 (GRCm39) |
V280A |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,836,691 (GRCm39) |
S3560R |
unknown |
Het |
| Flg |
A |
G |
3: 93,198,406 (GRCm39) |
E245G |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,898 (GRCm39) |
S68P |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,678 (GRCm39) |
T582A |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,800,612 (GRCm39) |
C2069R |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,552 (GRCm39) |
I867K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,594,844 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
A |
6: 69,608,689 (GRCm39) |
M77L |
probably benign |
Het |
| Kcnmb4 |
G |
C |
10: 116,309,372 (GRCm39) |
R19G |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,010,232 (GRCm39) |
T282A |
probably damaging |
Het |
| Lrrc58 |
T |
A |
16: 37,689,180 (GRCm39) |
L108Q |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,301,554 (GRCm39) |
A983S |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 13,061,383 (GRCm39) |
N794I |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,370,800 (GRCm39) |
C3244* |
probably null |
Het |
| Myo16 |
G |
T |
8: 10,492,236 (GRCm39) |
R726L |
unknown |
Het |
| Naaa |
A |
G |
5: 92,425,864 (GRCm39) |
V43A |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,213 (GRCm39) |
V941A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
C |
7: 23,020,941 (GRCm39) |
V476A |
possibly damaging |
Het |
| Or1e23 |
A |
C |
11: 73,407,801 (GRCm39) |
S75A |
probably damaging |
Het |
| Pcdh20 |
T |
G |
14: 88,706,255 (GRCm39) |
R348S |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,549,809 (GRCm39) |
P172T |
probably damaging |
Het |
| Pramel26 |
G |
A |
4: 143,537,303 (GRCm39) |
R343C |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,273,628 (GRCm39) |
S543P |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,745,632 (GRCm39) |
Q2446R |
probably benign |
Het |
| Qrich2 |
A |
C |
11: 116,335,900 (GRCm39) |
S345A |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,742,584 (GRCm39) |
E498G |
possibly damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,030,507 (GRCm39) |
T675A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,344 (GRCm39) |
Y848N |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,531 (GRCm39) |
D109G |
probably damaging |
Het |
| Ubl3 |
T |
C |
5: 148,443,270 (GRCm39) |
E96G |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,663,806 (GRCm39) |
T250A |
probably benign |
Het |
| Zfp871 |
A |
T |
17: 32,993,914 (GRCm39) |
N420K |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,723 (GRCm39) |
T431M |
probably damaging |
Het |
|
| Other mutations in Mroh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0087:Mroh3
|
UTSW |
1 |
136,118,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0507:Mroh3
|
UTSW |
1 |
136,118,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Mroh3
|
UTSW |
1 |
136,118,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0742:Mroh3
|
UTSW |
1 |
136,118,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1729:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1730:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1739:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1762:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1783:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1784:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1785:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1862:Mroh3
|
UTSW |
1 |
136,113,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1883:Mroh3
|
UTSW |
1 |
136,134,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2166:Mroh3
|
UTSW |
1 |
136,113,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2566:Mroh3
|
UTSW |
1 |
136,125,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Mroh3
|
UTSW |
1 |
136,113,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3788:Mroh3
|
UTSW |
1 |
136,113,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Mroh3
|
UTSW |
1 |
136,118,713 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4747:Mroh3
|
UTSW |
1 |
136,113,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4855:Mroh3
|
UTSW |
1 |
136,128,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5171:Mroh3
|
UTSW |
1 |
136,119,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5296:Mroh3
|
UTSW |
1 |
136,124,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5869:Mroh3
|
UTSW |
1 |
136,113,861 (GRCm39) |
missense |
probably benign |
|
|
R6347:Mroh3
|
UTSW |
1 |
136,128,675 (GRCm39) |
splice site |
probably null |
|
|
R6531:Mroh3
|
UTSW |
1 |
136,112,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6675:Mroh3
|
UTSW |
1 |
136,118,550 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7015:Mroh3
|
UTSW |
1 |
136,111,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Mroh3
|
UTSW |
1 |
136,118,736 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7657:Mroh3
|
UTSW |
1 |
136,109,532 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9007:Mroh3
|
UTSW |
1 |
136,128,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Mroh3
|
UTSW |
1 |
136,109,533 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9612:Mroh3
|
UTSW |
1 |
136,118,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9698:Mroh3
|
UTSW |
1 |
136,114,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Mroh3
|
UTSW |
1 |
136,119,874 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAGAGCATAACCCTTAGC -3'
(R):5'- ATGCTGAAGAGCCCTGAGAG -3'
Sequencing Primer
(F):5'- TTAGCACACTGGCCCAAGAG -3'
(R):5'- CATAACAGTGTTCTAGAGGCAGTCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation