Incidental Mutation 'R8782:Mroh1'
| ID |
670355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
068630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76298496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 369
(T369A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000161305]
|
| AlphaFold |
E0CZ22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
AA Change: T369A
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: T369A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
4 |
435 |
4e-10 |
SMART |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
937 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096385
AA Change: T369A
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: T369A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
1191 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1355 |
1367 |
N/A |
INTRINSIC |
|
low complexity region
|
1488 |
1502 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
1610 |
1640 |
2.2e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161305
AA Change: T369A
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,910,242 (GRCm39) |
|
probably null |
Het |
| Abhd16b |
G |
T |
2: 181,136,208 (GRCm39) |
R370L |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,250,035 (GRCm38) |
T342S |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,678 (GRCm39) |
Q329L |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,373,242 (GRCm39) |
M233V |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,714,010 (GRCm39) |
T474A |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,533 (GRCm39) |
T57A |
possibly damaging |
Het |
| Bcat2 |
A |
G |
7: 45,234,917 (GRCm39) |
D205G |
probably benign |
Het |
| Brd1 |
G |
T |
15: 88,614,834 (GRCm39) |
C20* |
probably null |
Het |
| Camsap2 |
T |
C |
1: 136,204,957 (GRCm39) |
M519V |
|
Het |
| Caprin1 |
T |
A |
2: 103,603,133 (GRCm39) |
T477S |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,161,712 (GRCm39) |
Q1516K |
possibly damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,155 (GRCm39) |
D339E |
probably benign |
Het |
| Col28a1 |
G |
A |
6: 8,175,227 (GRCm39) |
S207F |
unknown |
Het |
| Commd10 |
T |
A |
18: 47,096,809 (GRCm39) |
L72Q |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,508,306 (GRCm39) |
C37R |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,811,307 (GRCm39) |
K454N |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,868 (GRCm39) |
H219Q |
probably benign |
Het |
| Ddx10 |
A |
T |
9: 53,146,588 (GRCm39) |
F211L |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,473,538 (GRCm39) |
I66F |
possibly damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,179,168 (GRCm39) |
D343E |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,205,332 (GRCm39) |
R419H |
probably damaging |
Het |
| Fam120b |
A |
T |
17: 15,622,472 (GRCm39) |
Q150L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,095,033 (GRCm39) |
P242L |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,072,229 (GRCm39) |
T291A |
probably damaging |
Het |
| Gm14305 |
T |
G |
2: 176,413,213 (GRCm39) |
C368W |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,404,149 (GRCm39) |
D307G |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,777,663 (GRCm39) |
M261V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,636 (GRCm39) |
M2891T |
probably benign |
Het |
| Ighv1-31 |
A |
T |
12: 114,793,305 (GRCm39) |
W5R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,818 (GRCm39) |
T541A |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,744,952 (GRCm39) |
L1452Q |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,292,437 (GRCm39) |
S542T |
probably benign |
Het |
| Kif18a |
C |
T |
2: 109,127,118 (GRCm39) |
R351C |
probably damaging |
Het |
| Lactbl1 |
T |
G |
4: 136,358,329 (GRCm39) |
L100R |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,025,051 (GRCm39) |
S260P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,549,976 (GRCm39) |
Y2315F |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,148,270 (GRCm39) |
N350I |
probably damaging |
Het |
| Lyn |
C |
A |
4: 3,783,055 (GRCm39) |
F429L |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,294 (GRCm39) |
K402E |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,845 (GRCm39) |
E121G |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,299 (GRCm39) |
L173P |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,187,357 (GRCm39) |
L1308P |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,873 (GRCm39) |
D1895G |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,340,763 (GRCm39) |
T6A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,078,785 (GRCm39) |
E5819D |
probably benign |
Het |
| Neurod4 |
T |
C |
10: 130,106,948 (GRCm39) |
N109D |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,000,485 (GRCm39) |
M1L |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,882,540 (GRCm39) |
Y64C |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,501 (GRCm39) |
N417Y |
probably damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,962 (GRCm39) |
D212V |
probably benign |
Het |
| Or13c25 |
T |
A |
4: 52,911,693 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,296 (GRCm39) |
H65L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,417,127 (GRCm39) |
K637R |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,865 (GRCm39) |
L106P |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,494,962 (GRCm39) |
N67S |
possibly damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,250 (GRCm39) |
T85A |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,220 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,719,025 (GRCm39) |
M108K |
probably damaging |
Het |
| Pou3f1 |
GCACCACCACCACCACCAC |
GCACCACCACCACCAC |
4: 124,552,807 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
A |
T |
13: 27,758,011 (GRCm39) |
C233S |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,616 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,871,548 (GRCm39) |
M328K |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,580,798 (GRCm39) |
Y169H |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
| Speer4a1 |
T |
A |
5: 26,241,754 (GRCm39) |
H124L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,735,685 (GRCm39) |
T1299S |
probably benign |
Het |
| Tesmin |
T |
C |
19: 3,445,965 (GRCm39) |
V237A |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,951,701 (GRCm39) |
I984N |
probably benign |
Het |
| Ube2q2 |
G |
A |
9: 55,070,354 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
G |
7: 23,277,403 (GRCm39) |
D265G |
possibly damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,483 (GRCm39) |
V148L |
possibly damaging |
Het |
| Vwce |
T |
C |
19: 10,615,491 (GRCm39) |
V124A |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,787 (GRCm39) |
R292H |
probably benign |
Het |
|
| Other mutations in Mroh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Mroh1
|
APN |
15 |
76,316,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02141:Mroh1
|
APN |
15 |
76,330,799 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02146:Mroh1
|
APN |
15 |
76,318,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL02205:Mroh1
|
APN |
15 |
76,321,439 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02261:Mroh1
|
APN |
15 |
76,313,360 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02818:Mroh1
|
APN |
15 |
76,316,601 (GRCm39) |
splice site |
probably null |
|
|
IGL02949:Mroh1
|
APN |
15 |
76,293,168 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02951:Mroh1
|
APN |
15 |
76,311,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03154:Mroh1
|
APN |
15 |
76,337,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Mroh1
|
UTSW |
15 |
76,276,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0068:Mroh1
|
UTSW |
15 |
76,330,892 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Mroh1
|
UTSW |
15 |
76,330,892 (GRCm39) |
splice site |
probably benign |
|
|
R0076:Mroh1
|
UTSW |
15 |
76,335,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Mroh1
|
UTSW |
15 |
76,312,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0315:Mroh1
|
UTSW |
15 |
76,311,800 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0350:Mroh1
|
UTSW |
15 |
76,316,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0399:Mroh1
|
UTSW |
15 |
76,336,299 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0835:Mroh1
|
UTSW |
15 |
76,336,083 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0893:Mroh1
|
UTSW |
15 |
76,293,138 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1109:Mroh1
|
UTSW |
15 |
76,330,709 (GRCm39) |
splice site |
probably benign |
|
|
R1527:Mroh1
|
UTSW |
15 |
76,336,463 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1595:Mroh1
|
UTSW |
15 |
76,317,730 (GRCm39) |
splice site |
probably benign |
|
|
R1900:Mroh1
|
UTSW |
15 |
76,317,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1901:Mroh1
|
UTSW |
15 |
76,320,249 (GRCm39) |
missense |
probably benign |
|
|
R2223:Mroh1
|
UTSW |
15 |
76,292,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2415:Mroh1
|
UTSW |
15 |
76,305,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3113:Mroh1
|
UTSW |
15 |
76,292,736 (GRCm39) |
splice site |
probably benign |
|
|
R3437:Mroh1
|
UTSW |
15 |
76,317,808 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3618:Mroh1
|
UTSW |
15 |
76,336,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3833:Mroh1
|
UTSW |
15 |
76,285,819 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4073:Mroh1
|
UTSW |
15 |
76,292,185 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4156:Mroh1
|
UTSW |
15 |
76,286,326 (GRCm39) |
splice site |
probably null |
|
|
R4276:Mroh1
|
UTSW |
15 |
76,278,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Mroh1
|
UTSW |
15 |
76,292,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5450:Mroh1
|
UTSW |
15 |
76,316,547 (GRCm39) |
intron |
probably benign |
|
|
R5574:Mroh1
|
UTSW |
15 |
76,318,131 (GRCm39) |
missense |
probably benign |
|
|
R5673:Mroh1
|
UTSW |
15 |
76,314,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Mroh1
|
UTSW |
15 |
76,335,691 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5993:Mroh1
|
UTSW |
15 |
76,330,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6008:Mroh1
|
UTSW |
15 |
76,335,557 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6082:Mroh1
|
UTSW |
15 |
76,314,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6302:Mroh1
|
UTSW |
15 |
76,320,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7030:Mroh1
|
UTSW |
15 |
76,321,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7098:Mroh1
|
UTSW |
15 |
76,292,657 (GRCm39) |
nonsense |
probably null |
|
|
R7334:Mroh1
|
UTSW |
15 |
76,311,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7337:Mroh1
|
UTSW |
15 |
76,335,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7352:Mroh1
|
UTSW |
15 |
76,335,674 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7446:Mroh1
|
UTSW |
15 |
76,336,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7453:Mroh1
|
UTSW |
15 |
76,317,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Mroh1
|
UTSW |
15 |
76,336,048 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7753:Mroh1
|
UTSW |
15 |
76,317,475 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7860:Mroh1
|
UTSW |
15 |
76,331,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7990:Mroh1
|
UTSW |
15 |
76,336,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Mroh1
|
UTSW |
15 |
76,318,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8325:Mroh1
|
UTSW |
15 |
76,316,415 (GRCm39) |
frame shift |
probably null |
|
|
R8334:Mroh1
|
UTSW |
15 |
76,330,756 (GRCm39) |
missense |
probably benign |
|
|
R8529:Mroh1
|
UTSW |
15 |
76,311,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8544:Mroh1
|
UTSW |
15 |
76,327,558 (GRCm39) |
nonsense |
probably null |
|
|
R8688:Mroh1
|
UTSW |
15 |
76,312,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8769:Mroh1
|
UTSW |
15 |
76,297,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8887:Mroh1
|
UTSW |
15 |
76,331,474 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8934:Mroh1
|
UTSW |
15 |
76,334,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9254:Mroh1
|
UTSW |
15 |
76,292,215 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9400:Mroh1
|
UTSW |
15 |
76,336,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9443:Mroh1
|
UTSW |
15 |
76,318,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mroh1
|
UTSW |
15 |
76,307,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTTGAGTCTCTCCCACTC -3'
(R):5'- CAGTGCAATTTTGAAGACCGCC -3'
Sequencing Primer
(F):5'- TGCCAAGCTCCAGTTACAGAATG -3'
(R):5'- TTTTGAAGACCGCCAAGCTAAAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation