Incidental Mutation 'R9248:Mroh4'
| ID |
701388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh4
|
| Ensembl Gene |
ENSMUSG00000022603 |
| Gene Name |
maestro heat-like repeat family member 4 |
| Synonyms |
1700016M24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74485167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 515
(R515H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023271]
[ENSMUST00000137963]
|
| AlphaFold |
G3X8W1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023271
AA Change: R515H
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023271
Gene: ENSMUSG00000022603
AA Change: R515H
| 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: R446H
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117011
Gene: ENSMUSG00000022603
AA Change: R446H
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
C |
9: 118,983,002 (GRCm39) |
N132S |
probably benign |
Het |
| Agpat2 |
A |
G |
2: 26,483,601 (GRCm39) |
*279Q |
probably null |
Het |
| Akr1c19 |
C |
A |
13: 4,292,974 (GRCm39) |
D243E |
probably benign |
Het |
| Alg2 |
A |
G |
4: 47,474,001 (GRCm39) |
F96L |
probably benign |
Het |
| Apob |
C |
T |
12: 8,065,231 (GRCm39) |
Q4067* |
probably null |
Het |
| C1ra |
A |
T |
6: 124,489,580 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,703,199 (GRCm39) |
Y330C |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,576,221 (GRCm39) |
V156A |
probably benign |
Het |
| Ces1g |
A |
G |
8: 94,060,319 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,862,113 (GRCm39) |
N359S |
possibly damaging |
Het |
| Crybb2 |
C |
T |
5: 113,211,094 (GRCm39) |
A65T |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,563 (GRCm39) |
D521G |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,833,408 (GRCm39) |
F631L |
possibly damaging |
Het |
| Dok1 |
T |
A |
6: 83,008,893 (GRCm39) |
D263V |
possibly damaging |
Het |
| Ecel1 |
A |
G |
1: 87,081,112 (GRCm39) |
F293L |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,738,077 (GRCm39) |
L509Q |
possibly damaging |
Het |
| Fbln2 |
T |
A |
6: 91,231,556 (GRCm39) |
V551E |
possibly damaging |
Het |
| Fig4 |
C |
T |
10: 41,153,478 (GRCm39) |
V108I |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,396 (GRCm39) |
Y209C |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,963,026 (GRCm39) |
H52R |
|
Het |
| Heatr9 |
A |
T |
11: 83,409,281 (GRCm39) |
D157E |
possibly damaging |
Het |
| Jakmip2 |
A |
C |
18: 43,685,242 (GRCm39) |
M682R |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Layn |
A |
G |
9: 50,968,760 (GRCm39) |
S328P |
possibly damaging |
Het |
| Mblac2 |
A |
G |
13: 81,859,769 (GRCm39) |
D41G |
probably damaging |
Het |
| Mboat1 |
A |
G |
13: 30,410,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,736,226 (GRCm39) |
V334A |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,256 (GRCm39) |
S247P |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,706 (GRCm39) |
Y193H |
probably benign |
Het |
| Ostm1 |
T |
C |
10: 42,574,210 (GRCm39) |
V301A |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,608 (GRCm39) |
D662V |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,374 (GRCm39) |
S208R |
probably damaging |
Het |
| Plin5 |
A |
T |
17: 56,419,324 (GRCm39) |
V366E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,899 (GRCm39) |
I383V |
probably benign |
Het |
| Rnh1 |
T |
C |
7: 140,740,714 (GRCm39) |
T414A |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,617,296 (GRCm39) |
G537W |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,370,551 (GRCm39) |
N264S |
probably benign |
Het |
| Speg |
A |
C |
1: 75,398,420 (GRCm39) |
T1956P |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,002,905 (GRCm39) |
Y666C |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,727,481 (GRCm39) |
H1448L |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,154,230 (GRCm39) |
|
probably benign |
Het |
| Taf9 |
T |
A |
13: 100,790,860 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,040 (GRCm39) |
A516V |
possibly damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,308 (GRCm39) |
K797E |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,841,489 (GRCm39) |
T494A |
possibly damaging |
Het |
| Ttc41 |
T |
A |
10: 86,567,113 (GRCm39) |
L593Q |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,249,103 (GRCm39) |
I279S |
possibly damaging |
Het |
| Uxs1 |
A |
G |
1: 43,804,084 (GRCm39) |
F277S |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,380 (GRCm39) |
N320K |
possibly damaging |
Het |
| Wdr81 |
G |
T |
11: 75,336,256 (GRCm39) |
A592E |
|
Het |
| Zfp780b |
C |
T |
7: 27,673,143 (GRCm39) |
|
probably null |
Het |
| Zfp944 |
A |
T |
17: 22,562,619 (GRCm39) |
|
probably null |
Het |
| Zfp956 |
G |
T |
6: 47,934,437 (GRCm39) |
G136W |
possibly 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 |
|
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 |
|
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 |
|
|
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'- AATTGAAGCCCTGGAGACTG -3'
(R):5'- CCTGGAGAGGCTGAGATTTG -3'
Sequencing Primer
(F):5'- TGGAGACTGCTGCTGCC -3'
(R):5'- GCATCATAGAATATAGACCCCAGGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation