Incidental Mutation 'R5760:Mroh5'
| ID |
501392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh5
|
| Ensembl Gene |
ENSMUSG00000072487 |
| Gene Name |
maestro heat-like repeat family member 5 |
| Synonyms |
Gm628, LOC268816 |
| MMRRC Submission |
043362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73658785-73711520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 73693356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 28
(I28S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071419]
[ENSMUST00000110021]
[ENSMUST00000151999]
|
| AlphaFold |
A0A571BEG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071419
|
| SMART Domains |
Protein: ENSMUSP00000071366
Gene: ENSMUSG00000072487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136698
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151999
AA Change: I28S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118236
Gene: ENSMUSG00000072487
AA Change: I28S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
294 |
635 |
1e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
T |
C |
15: 37,439,835 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
C |
T |
1: 156,469,427 (GRCm39) |
T793M |
probably benign |
Het |
| Accs |
A |
C |
2: 93,676,105 (GRCm39) |
L90R |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,926 (GRCm39) |
D4070V |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,520,100 (GRCm39) |
V475A |
probably benign |
Het |
| Atp10d |
T |
A |
5: 72,418,280 (GRCm39) |
V602E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,242,171 (GRCm39) |
V1088M |
probably damaging |
Het |
| Dennd6a |
A |
T |
14: 26,333,195 (GRCm39) |
I144L |
probably damaging |
Het |
| Dnajc6 |
G |
A |
4: 101,475,839 (GRCm39) |
A571T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,474,391 (GRCm39) |
I18T |
probably damaging |
Het |
| En2 |
C |
A |
5: 28,371,997 (GRCm39) |
A158D |
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,203,167 (GRCm39) |
G1219R |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm7535 |
C |
T |
17: 18,132,080 (GRCm39) |
|
probably benign |
Het |
| Hao2 |
A |
T |
3: 98,787,748 (GRCm39) |
L227* |
probably null |
Het |
| Hdlbp |
C |
T |
1: 93,368,499 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,952,208 (GRCm39) |
K175E |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,304,580 (GRCm39) |
A3075T |
possibly damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,516 (GRCm39) |
I95N |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,802,537 (GRCm39) |
Q1001L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,009,052 (GRCm39) |
M151K |
probably benign |
Het |
| Lix1 |
T |
A |
17: 17,647,499 (GRCm39) |
V55D |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,407,677 (GRCm39) |
S179P |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
| Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
G |
13: 100,379,346 (GRCm39) |
K231N |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,073,830 (GRCm39) |
Y5683D |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,179,031 (GRCm39) |
H126Q |
probably benign |
Het |
| Npm2 |
A |
G |
14: 70,886,935 (GRCm39) |
F110L |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,149,772 (GRCm39) |
H319L |
probably damaging |
Het |
| Nup205 |
G |
A |
6: 35,224,278 (GRCm39) |
R2039Q |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,318 (GRCm39) |
A228S |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,418,922 (GRCm39) |
L185P |
possibly damaging |
Het |
| Or7d10 |
A |
C |
9: 19,832,050 (GRCm39) |
T182P |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,453 (GRCm39) |
G811E |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,143,778 (GRCm39) |
R3849S |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,655 (GRCm39) |
D317V |
probably damaging |
Het |
| Sall1 |
T |
C |
8: 89,755,278 (GRCm39) |
N1234D |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,961,741 (GRCm39) |
V1037D |
probably damaging |
Het |
| Slc12a8 |
G |
T |
16: 33,445,155 (GRCm39) |
E404* |
probably null |
Het |
| Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,151,996 (GRCm39) |
V152A |
probably damaging |
Het |
| Tshz3 |
C |
A |
7: 36,470,994 (GRCm39) |
H994Q |
probably damaging |
Het |
| Ubash3b |
T |
G |
9: 40,988,719 (GRCm39) |
K62T |
probably benign |
Het |
| Ushbp1 |
G |
T |
8: 71,840,012 (GRCm39) |
D546E |
probably damaging |
Het |
| Zfp458 |
A |
C |
13: 67,405,853 (GRCm39) |
C192W |
probably damaging |
Het |
| Zfp808 |
A |
T |
13: 62,319,740 (GRCm39) |
H323L |
probably damaging |
Het |
|
| Other mutations in Mroh5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Mroh5
|
APN |
15 |
73,664,638 (GRCm39) |
splice site |
probably benign |
|
|
IGL00466:Mroh5
|
APN |
15 |
73,664,638 (GRCm39) |
splice site |
probably benign |
|
|
IGL02937:Mroh5
|
APN |
15 |
73,661,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Mroh5
|
UTSW |
15 |
73,691,199 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0321:Mroh5
|
UTSW |
15 |
73,661,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Mroh5
|
UTSW |
15 |
73,662,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Mroh5
|
UTSW |
15 |
73,661,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0707:Mroh5
|
UTSW |
15 |
73,662,588 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1666:Mroh5
|
UTSW |
15 |
73,659,754 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1668:Mroh5
|
UTSW |
15 |
73,659,754 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2139:Mroh5
|
UTSW |
15 |
73,661,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Mroh5
|
UTSW |
15 |
73,664,997 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4078:Mroh5
|
UTSW |
15 |
73,657,889 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4420:Mroh5
|
UTSW |
15 |
73,654,923 (GRCm39) |
small deletion |
probably benign |
|
|
R4460:Mroh5
|
UTSW |
15 |
73,663,645 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4585:Mroh5
|
UTSW |
15 |
73,661,120 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5285:Mroh5
|
UTSW |
15 |
73,654,923 (GRCm39) |
small deletion |
probably benign |
|
|
R5287:Mroh5
|
UTSW |
15 |
73,654,923 (GRCm39) |
small deletion |
probably benign |
|
|
R5437:Mroh5
|
UTSW |
15 |
73,659,818 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5972:Mroh5
|
UTSW |
15 |
73,662,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6192:Mroh5
|
UTSW |
15 |
73,662,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:Mroh5
|
UTSW |
15 |
73,662,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Mroh5
|
UTSW |
15 |
73,662,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Mroh5
|
UTSW |
15 |
73,661,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6979:Mroh5
|
UTSW |
15 |
73,664,978 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7238:Mroh5
|
UTSW |
15 |
73,663,278 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7406:Mroh5
|
UTSW |
15 |
73,659,583 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7853:Mroh5
|
UTSW |
15 |
73,663,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7973:Mroh5
|
UTSW |
15 |
73,664,614 (GRCm39) |
nonsense |
probably null |
|
|
R8215:Mroh5
|
UTSW |
15 |
73,691,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8251:Mroh5
|
UTSW |
15 |
73,655,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8771:Mroh5
|
UTSW |
15 |
73,693,203 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9032:Mroh5
|
UTSW |
15 |
73,655,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9070:Mroh5
|
UTSW |
15 |
73,656,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9238:Mroh5
|
UTSW |
15 |
73,663,586 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9321:Mroh5
|
UTSW |
15 |
73,661,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Mroh5
|
UTSW |
15 |
73,659,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Mroh5
|
UTSW |
15 |
73,659,880 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGTAGGCCTCCTCCATAAAG -3'
(R):5'- GTTGGCTTATTCAACAGTGTCG -3'
Sequencing Primer
(F):5'- TTGTAGGCCTCCTCCATAAAGAACTG -3'
(R):5'- TTCAACAGTGTCGTAGAGCC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation