Incidental Mutation 'R1301:Mroh7'
| ID |
158353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh7
|
| Ensembl Gene |
ENSMUSG00000047502 |
| Gene Name |
maestro heat-like repeat family member 7 |
| Synonyms |
Heatr8, Gm1027, LOC381538 |
| MMRRC Submission |
039367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106577692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 329
(T329A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
[ENSMUST00000145044]
[ENSMUST00000148281]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106770
AA Change: T329A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: T329A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
573 |
N/A |
INTRINSIC |
|
SCOP:d1b3ua_
|
634 |
1218 |
6e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148281
|
| Meta Mutation Damage Score |
0.0801 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.3%
- 20x: 82.6%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,291,635 (GRCm39) |
I24L |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,187,426 (GRCm39) |
W447R |
possibly damaging |
Het |
| Blm |
T |
A |
7: 80,105,165 (GRCm39) |
K103* |
probably null |
Het |
| Camta2 |
A |
G |
11: 70,567,230 (GRCm39) |
I675T |
probably benign |
Het |
| Catsperz |
G |
A |
19: 6,902,450 (GRCm39) |
R15C |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,510,964 (GRCm39) |
|
probably benign |
Het |
| Corin |
C |
A |
5: 72,462,276 (GRCm39) |
E844D |
possibly damaging |
Het |
| Cyb5rl |
T |
G |
4: 106,938,104 (GRCm39) |
M127R |
probably damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,286,569 (GRCm39) |
N164I |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,185,528 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,562,960 (GRCm39) |
|
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,319,800 (GRCm39) |
V211D |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,427 (GRCm39) |
M166I |
probably benign |
Het |
| Golm1 |
T |
C |
13: 59,786,187 (GRCm39) |
D335G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,660,773 (GRCm39) |
M188K |
probably damaging |
Het |
| Gpr84 |
T |
A |
15: 103,217,646 (GRCm39) |
S144C |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,981,200 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Gsdmd |
C |
A |
15: 75,738,908 (GRCm39) |
|
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,795,528 (GRCm39) |
T347I |
probably damaging |
Het |
| Hsd17b7 |
T |
A |
1: 169,788,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
G |
A |
3: 98,354,182 (GRCm39) |
Q106* |
probably null |
Het |
| Klhl7 |
T |
G |
5: 24,364,489 (GRCm39) |
W508G |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,258,948 (GRCm39) |
D4581Y |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,840,968 (GRCm39) |
N1357D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,380,451 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,871,552 (GRCm39) |
|
probably null |
Het |
| Mta2 |
A |
G |
19: 8,926,550 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,271,906 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,384,352 (GRCm39) |
D153G |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,644,156 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,019,329 (GRCm39) |
V259M |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,610,816 (GRCm39) |
M308I |
probably benign |
Het |
| Or5b112 |
A |
T |
19: 13,319,211 (GRCm39) |
I30F |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,726 (GRCm39) |
V76D |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,939,113 (GRCm39) |
R2048C |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,080,632 (GRCm39) |
V284A |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,235,124 (GRCm39) |
L327P |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,105,676 (GRCm39) |
S249P |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,302,833 (GRCm39) |
I230T |
probably benign |
Het |
| Pitpnm1 |
T |
G |
19: 4,160,831 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,971,477 (GRCm39) |
Y48C |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,812,870 (GRCm39) |
F194L |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,416,159 (GRCm39) |
V1651D |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,080,943 (GRCm39) |
R47* |
probably null |
Het |
| Sis |
T |
C |
3: 72,853,915 (GRCm39) |
T521A |
possibly damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,118,308 (GRCm39) |
D209G |
probably benign |
Het |
| Slc26a4 |
A |
T |
12: 31,575,567 (GRCm39) |
C706* |
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,148,177 (GRCm39) |
V325A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,378,145 (GRCm39) |
D784E |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,827,938 (GRCm39) |
I270V |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,076 (GRCm39) |
F309I |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,089,400 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,852,801 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,782,714 (GRCm39) |
R496G |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,300,854 (GRCm39) |
V2299A |
probably benign |
Het |
| Zfp819 |
T |
A |
7: 43,266,524 (GRCm39) |
S260T |
possibly damaging |
Het |
|
| Other mutations in Mroh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Mroh7
|
APN |
4 |
106,560,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01729:Mroh7
|
APN |
4 |
106,561,402 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01834:Mroh7
|
APN |
4 |
106,538,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02003:Mroh7
|
APN |
4 |
106,559,726 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02135:Mroh7
|
APN |
4 |
106,559,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02335:Mroh7
|
APN |
4 |
106,564,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Mroh7
|
APN |
4 |
106,577,788 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02896:Mroh7
|
APN |
4 |
106,557,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03066:Mroh7
|
APN |
4 |
106,549,595 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03298:Mroh7
|
APN |
4 |
106,571,288 (GRCm39) |
nonsense |
probably null |
|
|
holy
|
UTSW |
4 |
106,567,152 (GRCm39) |
splice site |
probably null |
|
|
moley
|
UTSW |
4 |
106,551,509 (GRCm39) |
splice site |
probably null |
|
|
P0016:Mroh7
|
UTSW |
4 |
106,565,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0019:Mroh7
|
UTSW |
4 |
106,578,623 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0094:Mroh7
|
UTSW |
4 |
106,560,381 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0105:Mroh7
|
UTSW |
4 |
106,568,467 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0105:Mroh7
|
UTSW |
4 |
106,568,467 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0515:Mroh7
|
UTSW |
4 |
106,548,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0828:Mroh7
|
UTSW |
4 |
106,557,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0831:Mroh7
|
UTSW |
4 |
106,537,990 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1107:Mroh7
|
UTSW |
4 |
106,564,791 (GRCm39) |
splice site |
probably null |
|
|
R1456:Mroh7
|
UTSW |
4 |
106,552,338 (GRCm39) |
splice site |
probably benign |
|
|
R1491:Mroh7
|
UTSW |
4 |
106,560,255 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1540:Mroh7
|
UTSW |
4 |
106,560,273 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1560:Mroh7
|
UTSW |
4 |
106,568,451 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1645:Mroh7
|
UTSW |
4 |
106,577,865 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1804:Mroh7
|
UTSW |
4 |
106,551,589 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2162:Mroh7
|
UTSW |
4 |
106,557,378 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2265:Mroh7
|
UTSW |
4 |
106,578,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2866:Mroh7
|
UTSW |
4 |
106,548,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Mroh7
|
UTSW |
4 |
106,561,407 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3718:Mroh7
|
UTSW |
4 |
106,561,407 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4530:Mroh7
|
UTSW |
4 |
106,577,634 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4661:Mroh7
|
UTSW |
4 |
106,548,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4706:Mroh7
|
UTSW |
4 |
106,548,821 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4910:Mroh7
|
UTSW |
4 |
106,567,152 (GRCm39) |
splice site |
probably null |
|
|
R4965:Mroh7
|
UTSW |
4 |
106,548,184 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4969:Mroh7
|
UTSW |
4 |
106,538,070 (GRCm39) |
missense |
probably benign |
|
|
R4971:Mroh7
|
UTSW |
4 |
106,548,749 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5083:Mroh7
|
UTSW |
4 |
106,547,515 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5207:Mroh7
|
UTSW |
4 |
106,578,583 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5364:Mroh7
|
UTSW |
4 |
106,548,840 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5392:Mroh7
|
UTSW |
4 |
106,568,448 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5630:Mroh7
|
UTSW |
4 |
106,577,764 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5691:Mroh7
|
UTSW |
4 |
106,559,815 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5703:Mroh7
|
UTSW |
4 |
106,565,757 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5707:Mroh7
|
UTSW |
4 |
106,539,082 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5919:Mroh7
|
UTSW |
4 |
106,551,509 (GRCm39) |
splice site |
probably null |
|
|
R5979:Mroh7
|
UTSW |
4 |
106,578,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6479:Mroh7
|
UTSW |
4 |
106,560,385 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6520:Mroh7
|
UTSW |
4 |
106,578,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6657:Mroh7
|
UTSW |
4 |
106,559,697 (GRCm39) |
nonsense |
probably null |
|
|
R6732:Mroh7
|
UTSW |
4 |
106,537,910 (GRCm39) |
frame shift |
probably null |
|
|
R6817:Mroh7
|
UTSW |
4 |
106,571,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6980:Mroh7
|
UTSW |
4 |
106,557,434 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7062:Mroh7
|
UTSW |
4 |
106,541,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Mroh7
|
UTSW |
4 |
106,568,517 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7134:Mroh7
|
UTSW |
4 |
106,577,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7169:Mroh7
|
UTSW |
4 |
106,548,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7419:Mroh7
|
UTSW |
4 |
106,541,115 (GRCm39) |
missense |
probably benign |
|
|
R7516:Mroh7
|
UTSW |
4 |
106,548,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7525:Mroh7
|
UTSW |
4 |
106,566,899 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7540:Mroh7
|
UTSW |
4 |
106,577,595 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7849:Mroh7
|
UTSW |
4 |
106,578,287 (GRCm39) |
missense |
probably benign |
|
|
R7920:Mroh7
|
UTSW |
4 |
106,564,773 (GRCm39) |
missense |
probably benign |
|
|
R7998:Mroh7
|
UTSW |
4 |
106,568,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8026:Mroh7
|
UTSW |
4 |
106,578,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8122:Mroh7
|
UTSW |
4 |
106,559,726 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8249:Mroh7
|
UTSW |
4 |
106,578,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9188:Mroh7
|
UTSW |
4 |
106,566,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAGTCAGAGTTTCCCTGATCC -3'
(R):5'- CATGATTCCTGGTTCCAGTGAAGGC -3'
Sequencing Primer
(F):5'- ccagtcagagcaacatattgag -3'
(R):5'- GCCTCAGTCTACAGTCAAGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation