Incidental Mutation 'R0545:Mroh4'
ID |
44785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh4
|
Ensembl Gene |
ENSMUSG00000022603 |
Gene Name |
maestro heat-like repeat family member 4 |
Synonyms |
1700016M24Rik |
MMRRC Submission |
038737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0545 (G1)
|
Quality Score |
118 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74497276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 182
(T182A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117011
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023271]
[ENSMUST00000137963]
|
AlphaFold |
G3X8W1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023271
AA Change: T251A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023271 Gene: ENSMUSG00000022603 AA Change: T251A
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 |
probably benign
Transcript: ENSMUST00000137963
AA Change: T182A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000117011 Gene: ENSMUSG00000022603 AA Change: T182A
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: ENSMUST00000176767
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
C |
T |
2: 19,547,187 (GRCm39) |
R76H |
probably damaging |
Het |
Adnp2 |
T |
C |
18: 80,172,616 (GRCm39) |
I598V |
probably benign |
Het |
Ago3 |
T |
C |
4: 126,311,025 (GRCm39) |
N63D |
probably damaging |
Het |
Alkbh7 |
C |
T |
17: 57,306,012 (GRCm39) |
R138* |
probably null |
Het |
Atp6ap1l |
T |
C |
13: 91,031,782 (GRCm39) |
H300R |
probably benign |
Het |
BC051076 |
C |
T |
5: 88,111,349 (GRCm39) |
|
noncoding transcript |
Het |
Bltp1 |
G |
A |
3: 37,041,839 (GRCm39) |
|
probably benign |
Het |
Bpifb9a |
T |
A |
2: 154,103,870 (GRCm39) |
C104* |
probably null |
Het |
Cacna2d2 |
T |
C |
9: 107,402,422 (GRCm39) |
L826P |
probably damaging |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,913,447 (GRCm39) |
D526G |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,070 (GRCm39) |
T1861S |
probably benign |
Het |
Ces2f |
A |
C |
8: 105,676,668 (GRCm39) |
M121L |
possibly damaging |
Het |
Cfap58 |
G |
A |
19: 47,929,536 (GRCm39) |
|
probably benign |
Het |
Chpf2 |
T |
C |
5: 24,795,322 (GRCm39) |
S282P |
possibly damaging |
Het |
Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
Cma2 |
A |
T |
14: 56,210,570 (GRCm39) |
M86L |
probably benign |
Het |
Cog6 |
A |
T |
3: 52,903,496 (GRCm39) |
M134K |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,842,420 (GRCm39) |
D1446G |
unknown |
Het |
Cpne8 |
T |
A |
15: 90,381,278 (GRCm39) |
D512V |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 77,582,165 (GRCm39) |
N352I |
probably damaging |
Het |
Cyp2c69 |
A |
C |
19: 39,875,105 (GRCm39) |
L16R |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,076,443 (GRCm39) |
S603P |
probably damaging |
Het |
Epha5 |
A |
G |
5: 84,215,217 (GRCm39) |
|
probably null |
Het |
Ercc3 |
T |
C |
18: 32,378,955 (GRCm39) |
S270P |
probably damaging |
Het |
F10 |
T |
A |
8: 13,098,249 (GRCm39) |
C151S |
probably damaging |
Het |
Gpr180 |
T |
G |
14: 118,397,458 (GRCm39) |
H317Q |
possibly damaging |
Het |
Gstp2 |
T |
C |
19: 4,091,633 (GRCm39) |
E32G |
possibly damaging |
Het |
Ikzf5 |
T |
C |
7: 130,994,229 (GRCm39) |
T133A |
possibly damaging |
Het |
Itch |
G |
T |
2: 155,024,218 (GRCm39) |
G274* |
probably null |
Het |
Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,694,758 (GRCm39) |
S1295T |
possibly damaging |
Het |
Lipc |
A |
G |
9: 70,719,987 (GRCm39) |
L255P |
probably damaging |
Het |
Lrrc38 |
A |
G |
4: 143,077,328 (GRCm39) |
D197G |
probably benign |
Het |
Mfap2 |
A |
G |
4: 140,741,496 (GRCm39) |
|
probably benign |
Het |
Mfhas1 |
A |
G |
8: 36,056,202 (GRCm39) |
K226E |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,386,020 (GRCm39) |
R548G |
probably benign |
Het |
Mrgprb5 |
T |
C |
7: 47,818,633 (GRCm39) |
N34S |
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,074,319 (GRCm39) |
F743L |
possibly damaging |
Het |
Notch4 |
A |
C |
17: 34,802,407 (GRCm39) |
D1276A |
probably damaging |
Het |
Or1e34 |
A |
T |
11: 73,778,843 (GRCm39) |
Y118* |
probably null |
Het |
Or3a10 |
A |
G |
11: 73,935,873 (GRCm39) |
C76R |
possibly damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,218 (GRCm39) |
C74S |
probably damaging |
Het |
Or6d15 |
T |
A |
6: 116,559,617 (GRCm39) |
I97L |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,413,567 (GRCm39) |
T353S |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,115,357 (GRCm39) |
T827A |
probably benign |
Het |
Prlr |
C |
T |
15: 10,317,652 (GRCm39) |
T40I |
probably damaging |
Het |
Psme3 |
T |
C |
11: 101,210,730 (GRCm39) |
|
probably benign |
Het |
Pygb |
A |
T |
2: 150,657,626 (GRCm39) |
D363V |
probably benign |
Het |
Rsph6a |
C |
T |
7: 18,788,871 (GRCm39) |
Q68* |
probably null |
Het |
Serpini2 |
A |
G |
3: 75,165,445 (GRCm39) |
V178A |
probably benign |
Het |
Sh2d2a |
T |
C |
3: 87,759,195 (GRCm39) |
|
probably benign |
Het |
Skint7 |
A |
C |
4: 111,837,395 (GRCm39) |
M58L |
probably benign |
Het |
Slco3a1 |
G |
T |
7: 73,970,301 (GRCm39) |
Y435* |
probably null |
Het |
Stk17b |
T |
C |
1: 53,801,742 (GRCm39) |
|
probably benign |
Het |
Tinag |
T |
A |
9: 76,938,992 (GRCm39) |
H162L |
possibly damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,865 (GRCm39) |
L811Q |
probably damaging |
Het |
Ttc41 |
A |
T |
10: 86,594,961 (GRCm39) |
M912L |
probably benign |
Het |
Vmn2r98 |
G |
T |
17: 19,273,875 (GRCm39) |
V41F |
probably benign |
Het |
Washc5 |
C |
T |
15: 59,213,942 (GRCm39) |
C838Y |
possibly damaging |
Het |
Wrnip1 |
A |
G |
13: 32,990,796 (GRCm39) |
T352A |
probably damaging |
Het |
Zan |
A |
C |
5: 137,394,439 (GRCm39) |
C4467G |
unknown |
Het |
Zc3h7a |
T |
C |
16: 10,970,197 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
C |
A |
13: 67,768,345 (GRCm39) |
C628F |
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 |
|
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 |
R5818:Mroh4
|
UTSW |
15 |
74,483,831 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TTGAGCAGAAAACCTCGAAGGTCC -3'
(R):5'- ACCATAACCCGTGTTGTTAGCCC -3'
Sequencing Primer
(F):5'- CCTGGCCTTTCTAAGATTGAAGAG -3'
(R):5'- ACCTGTCTGCAGACTGTGTA -3'
|
Posted On |
2013-06-11 |