Incidental Mutation 'IGL03194:Mroh4'
ID |
412748 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mroh4
|
Ensembl Gene |
ENSMUSG00000022603 |
Gene Name |
maestro heat-like repeat family member 4 |
Synonyms |
1700016M24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03194
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74483388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 650
(T650A)
|
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: T650A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023271 Gene: ENSMUSG00000022603 AA Change: T650A
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: T581A
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117011 Gene: ENSMUSG00000022603 AA Change: T581A
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
C |
8: 84,460,647 (GRCm39) |
S64G |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,522 (GRCm39) |
V306A |
probably damaging |
Het |
Clec4b2 |
G |
A |
6: 123,177,946 (GRCm39) |
G87D |
probably benign |
Het |
Disp2 |
A |
T |
2: 118,618,110 (GRCm39) |
R219W |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,314,048 (GRCm39) |
D317E |
probably benign |
Het |
Dstyk |
A |
T |
1: 132,384,054 (GRCm39) |
|
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,302,240 (GRCm39) |
S451G |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,201,821 (GRCm39) |
T418S |
probably benign |
Het |
Fto |
G |
A |
8: 92,136,415 (GRCm39) |
D228N |
probably damaging |
Het |
Gins4 |
A |
T |
8: 23,724,762 (GRCm39) |
|
probably benign |
Het |
Gm10220 |
T |
A |
5: 26,326,231 (GRCm39) |
R40W |
probably damaging |
Het |
Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
T |
G |
11: 48,786,364 (GRCm39) |
|
probably benign |
Het |
Hebp1 |
A |
G |
6: 135,132,190 (GRCm39) |
M59T |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,404,554 (GRCm39) |
V1989D |
probably damaging |
Het |
Ltc4s |
T |
C |
11: 50,127,398 (GRCm39) |
*151W |
probably null |
Het |
Map3k21 |
A |
G |
8: 126,650,801 (GRCm39) |
T268A |
possibly damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,444 (GRCm39) |
L164P |
probably damaging |
Het |
Mss51 |
T |
C |
14: 20,535,165 (GRCm39) |
N202D |
probably benign |
Het |
Mtus2 |
G |
A |
5: 148,043,913 (GRCm39) |
A834T |
probably damaging |
Het |
Nalf1 |
T |
C |
8: 9,282,975 (GRCm39) |
D358G |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,257,788 (GRCm39) |
M585T |
possibly damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Npvf |
A |
C |
6: 50,627,878 (GRCm39) |
D180E |
possibly damaging |
Het |
Nup188 |
A |
T |
2: 30,194,346 (GRCm39) |
Y173F |
possibly damaging |
Het |
Oas3 |
C |
A |
5: 120,897,018 (GRCm39) |
A868S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,381,531 (GRCm39) |
T1086A |
probably damaging |
Het |
Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
Rara |
T |
C |
11: 98,862,490 (GRCm39) |
M297T |
possibly damaging |
Het |
Tmc1 |
T |
C |
19: 20,782,017 (GRCm39) |
E567G |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,914,921 (GRCm39) |
Q1970* |
probably null |
Het |
Usp11 |
T |
C |
X: 20,578,656 (GRCm39) |
I162T |
probably benign |
Het |
Utrn |
A |
G |
10: 12,282,173 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,521,359 (GRCm39) |
E827G |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |