Incidental Mutation 'R5818:Mroh4'
| ID |
449188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh4
|
| Ensembl Gene |
ENSMUSG00000022603 |
| Gene Name |
maestro heat-like repeat family member 4 |
| Synonyms |
1700016M24Rik |
| MMRRC Submission |
043398-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5818 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74483831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 571
(I571T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023271]
[ENSMUST00000137963]
|
| AlphaFold |
G3X8W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023271
AA Change: I571T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023271
Gene: ENSMUSG00000022603
AA Change: I571T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
591 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
709 |
852 |
3e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137963
AA Change: I502T
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117011
Gene: ENSMUSG00000022603
AA Change: I502T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
522 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
640 |
783 |
3e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177179
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,110,469 (GRCm39) |
V560D |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,618,444 (GRCm39) |
I72T |
probably damaging |
Het |
| Adam33 |
A |
T |
2: 130,896,278 (GRCm39) |
C440S |
possibly damaging |
Het |
| Bace1 |
T |
C |
9: 45,770,347 (GRCm39) |
I361T |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,215 (GRCm39) |
N219K |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,308,946 (GRCm39) |
K1634N |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,046,836 (GRCm39) |
|
probably null |
Het |
| Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
| Corin |
G |
T |
5: 72,592,738 (GRCm39) |
H87N |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,205,647 (GRCm39) |
I557F |
possibly damaging |
Het |
| Cyp4a29 |
T |
C |
4: 115,104,229 (GRCm39) |
V99A |
possibly damaging |
Het |
| Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
| Dgat1 |
G |
A |
15: 76,386,407 (GRCm39) |
|
probably benign |
Het |
| Eif1ad8 |
T |
G |
12: 87,563,830 (GRCm39) |
V55G |
possibly damaging |
Het |
| Fbxw26 |
G |
T |
9: 109,561,634 (GRCm39) |
R187S |
probably benign |
Het |
| Gabrd |
G |
A |
4: 155,472,818 (GRCm39) |
P122S |
probably damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Hif1a |
A |
G |
12: 73,986,338 (GRCm39) |
Q343R |
possibly damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,223 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,893,864 (GRCm39) |
I2072K |
possibly damaging |
Het |
| Itprid2 |
T |
A |
2: 79,474,937 (GRCm39) |
S299T |
probably damaging |
Het |
| Kash5 |
C |
T |
7: 44,843,383 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,454,054 (GRCm39) |
A328T |
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,279,597 (GRCm39) |
Y188H |
probably damaging |
Het |
| Krtap4-16 |
T |
A |
11: 99,742,349 (GRCm39) |
Q17L |
unknown |
Het |
| Larp4b |
T |
A |
13: 9,208,596 (GRCm39) |
S416R |
probably benign |
Het |
| Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,388,777 (GRCm39) |
R2021Q |
probably benign |
Het |
| Npl |
G |
A |
1: 153,411,661 (GRCm39) |
R63C |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,480,626 (GRCm39) |
I80V |
probably benign |
Het |
| Numb |
C |
T |
12: 83,872,028 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
A |
C |
2: 119,465,994 (GRCm39) |
M205L |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,661 (GRCm39) |
S135G |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,265,311 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,074,305 (GRCm39) |
|
probably benign |
Het |
| Ppm1b |
A |
G |
17: 85,301,147 (GRCm39) |
K9R |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,235,090 (GRCm39) |
S608G |
probably damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Sohlh2 |
A |
G |
3: 55,097,922 (GRCm39) |
T125A |
probably damaging |
Het |
| Tet1 |
C |
A |
10: 62,652,187 (GRCm39) |
M1610I |
possibly damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,280,869 (GRCm39) |
D630E |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,111,127 (GRCm39) |
D247G |
probably benign |
Het |
| Tmem198b |
G |
A |
10: 128,638,057 (GRCm39) |
R169W |
probably benign |
Het |
| Tmem201 |
G |
A |
4: 149,811,849 (GRCm39) |
A332V |
probably benign |
Het |
| Tsku |
T |
C |
7: 98,001,305 (GRCm39) |
D342G |
possibly damaging |
Het |
| Ucn2 |
A |
T |
9: 108,815,565 (GRCm39) |
H109L |
probably benign |
Het |
| Virma |
T |
G |
4: 11,513,319 (GRCm39) |
L391R |
possibly damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,548,098 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,142 (GRCm39) |
H386R |
probably benign |
Het |
| Zfp608 |
C |
T |
18: 55,028,468 (GRCm39) |
R1315Q |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,183,986 (GRCm39) |
T983A |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,629,931 (GRCm39) |
S65P |
probably benign |
Het |
|
| Other mutations in Mroh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01645:Mroh4
|
APN |
15 |
74,483,207 (GRCm39) |
splice site |
probably benign |
|
|
IGL02370:Mroh4
|
APN |
15 |
74,497,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02598:Mroh4
|
APN |
15 |
74,483,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02644:Mroh4
|
APN |
15 |
74,482,224 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02666:Mroh4
|
APN |
15 |
74,481,624 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02723:Mroh4
|
APN |
15 |
74,480,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Mroh4
|
APN |
15 |
74,478,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03000:Mroh4
|
APN |
15 |
74,487,963 (GRCm39) |
missense |
probably benign |
|
|
IGL03103:Mroh4
|
APN |
15 |
74,488,008 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03194:Mroh4
|
APN |
15 |
74,483,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Mroh4
|
UTSW |
15 |
74,480,086 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Mroh4
|
UTSW |
15 |
74,482,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0042:Mroh4
|
UTSW |
15 |
74,482,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0294:Mroh4
|
UTSW |
15 |
74,477,998 (GRCm39) |
missense |
probably benign |
|
|
R0346:Mroh4
|
UTSW |
15 |
74,486,141 (GRCm39) |
splice site |
probably benign |
|
|
R0545:Mroh4
|
UTSW |
15 |
74,497,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0688:Mroh4
|
UTSW |
15 |
74,478,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1838:Mroh4
|
UTSW |
15 |
74,487,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2037:Mroh4
|
UTSW |
15 |
74,481,610 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4725:Mroh4
|
UTSW |
15 |
74,487,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4786:Mroh4
|
UTSW |
15 |
74,482,083 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4798:Mroh4
|
UTSW |
15 |
74,498,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Mroh4
|
UTSW |
15 |
74,483,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5065:Mroh4
|
UTSW |
15 |
74,500,119 (GRCm39) |
splice site |
probably null |
|
|
R5476:Mroh4
|
UTSW |
15 |
74,483,510 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5509:Mroh4
|
UTSW |
15 |
74,478,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5527:Mroh4
|
UTSW |
15 |
74,486,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Mroh4
|
UTSW |
15 |
74,497,277 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5861:Mroh4
|
UTSW |
15 |
74,478,456 (GRCm39) |
intron |
probably benign |
|
|
R5886:Mroh4
|
UTSW |
15 |
74,478,296 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5935:Mroh4
|
UTSW |
15 |
74,493,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Mroh4
|
UTSW |
15 |
74,497,321 (GRCm39) |
nonsense |
probably null |
|
|
R6658:Mroh4
|
UTSW |
15 |
74,492,978 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6689:Mroh4
|
UTSW |
15 |
74,483,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6739:Mroh4
|
UTSW |
15 |
74,481,568 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6888:Mroh4
|
UTSW |
15 |
74,485,098 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7088:Mroh4
|
UTSW |
15 |
74,497,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7260:Mroh4
|
UTSW |
15 |
74,479,978 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7365:Mroh4
|
UTSW |
15 |
74,482,220 (GRCm39) |
nonsense |
probably null |
|
|
R7735:Mroh4
|
UTSW |
15 |
74,497,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7763:Mroh4
|
UTSW |
15 |
74,496,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7945:Mroh4
|
UTSW |
15 |
74,496,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8090:Mroh4
|
UTSW |
15 |
74,496,550 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8242:Mroh4
|
UTSW |
15 |
74,488,157 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8978:Mroh4
|
UTSW |
15 |
74,499,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9004:Mroh4
|
UTSW |
15 |
74,486,171 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9083:Mroh4
|
UTSW |
15 |
74,498,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Mroh4
|
UTSW |
15 |
74,477,961 (GRCm39) |
makesense |
probably null |
|
|
R9248:Mroh4
|
UTSW |
15 |
74,485,167 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9320:Mroh4
|
UTSW |
15 |
74,483,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Mroh4
|
UTSW |
15 |
74,482,760 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9512:Mroh4
|
UTSW |
15 |
74,485,095 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Mroh4
|
UTSW |
15 |
74,499,851 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Mroh4
|
UTSW |
15 |
74,499,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTTGGGTCCGTAGCATC -3'
(R):5'- TAGTTGAGCCTCAGAGCTAGTG -3'
Sequencing Primer
(F):5'- CATCAGCATGCTCAGTGAGTG -3'
(R):5'- CCTCAGAGCTAGTGCAAGGATC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation