Incidental Mutation 'R9443:Mroh1'
| ID |
713771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9443 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76318964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 949
(F949I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000161305]
|
| AlphaFold |
E0CZ22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092595
AA Change: F940I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: F940I
| 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 |
probably damaging
Transcript: ENSMUST00000096385
AA Change: F949I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: F949I
| 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 damaging
Transcript: ENSMUST00000161305
AA Change: F940I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,146,140 (GRCm39) |
Y503H |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,338,550 (GRCm39) |
|
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,879,859 (GRCm39) |
D337G |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,189,587 (GRCm39) |
T448M |
probably damaging |
Het |
| Aqp6 |
T |
C |
15: 99,499,409 (GRCm39) |
S41P |
|
Het |
| Atad5 |
T |
G |
11: 80,023,388 (GRCm39) |
V1500G |
probably benign |
Het |
| B3galt9 |
C |
T |
2: 34,728,623 (GRCm39) |
Q141* |
probably null |
Het |
| Btbd18 |
T |
A |
2: 84,497,524 (GRCm39) |
D387E |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,969,720 (GRCm39) |
N605D |
possibly damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,728,355 (GRCm39) |
V102I |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,976,609 (GRCm39) |
D2405E |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,195,023 (GRCm39) |
D2249G |
|
Het |
| Chrm1 |
A |
T |
19: 8,655,550 (GRCm39) |
Y85F |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,428,358 (GRCm39) |
G465S |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,785,059 (GRCm39) |
G262D |
unknown |
Het |
| Copg2 |
T |
C |
6: 30,750,578 (GRCm39) |
T736A |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,333,080 (GRCm39) |
E435G |
probably benign |
Het |
| Cp |
A |
T |
3: 20,033,083 (GRCm39) |
I637F |
possibly damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,411 (GRCm39) |
F239L |
probably damaging |
Het |
| Cstdc2 |
C |
T |
2: 148,689,878 (GRCm39) |
E92K |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,434,041 (GRCm39) |
Y679* |
probably null |
Het |
| Dhx8 |
T |
C |
11: 101,655,740 (GRCm39) |
Y1158H |
probably damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Elp6 |
T |
A |
9: 110,150,004 (GRCm39) |
V265D |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,640 (GRCm39) |
T562A |
|
Het |
| Fam187b |
A |
T |
7: 30,677,067 (GRCm39) |
E192V |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,671 (GRCm39) |
T320A |
probably benign |
Het |
| Gga1 |
C |
T |
15: 78,765,247 (GRCm39) |
T18I |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,571,037 (GRCm39) |
M223L |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,700,352 (GRCm39) |
N594S |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,324,523 (GRCm39) |
F1235C |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,523,765 (GRCm39) |
S484P |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,515,045 (GRCm39) |
S2933P |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,843,522 (GRCm39) |
H475L |
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,826 (GRCm39) |
L292P |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,365,668 (GRCm39) |
Q3031L |
probably benign |
Het |
| Mbd5 |
T |
G |
2: 49,146,712 (GRCm39) |
S307R |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,604,029 (GRCm39) |
F388L |
probably benign |
Het |
| Mmp11 |
A |
G |
10: 75,762,733 (GRCm39) |
F240S |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,973,821 (GRCm39) |
L1113P |
probably damaging |
Het |
| Ndufv1 |
C |
A |
19: 4,057,614 (GRCm39) |
A454S |
probably benign |
Het |
| Or13e8 |
A |
G |
4: 43,696,591 (GRCm39) |
L194P |
probably damaging |
Het |
| Or56b2j |
T |
C |
7: 104,352,821 (GRCm39) |
S16P |
probably benign |
Het |
| Or5d46 |
T |
A |
2: 88,170,364 (GRCm39) |
W152R |
probably damaging |
Het |
| Osbpl1a |
C |
A |
18: 13,031,244 (GRCm39) |
D329Y |
probably benign |
Het |
| Pcdh1 |
C |
A |
18: 38,330,633 (GRCm39) |
R929L |
probably damaging |
Het |
| Phactr2 |
C |
T |
10: 13,122,841 (GRCm39) |
R427K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,153,184 (GRCm39) |
Y670H |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,611,555 (GRCm39) |
N241Y |
probably damaging |
Het |
| Pmvk |
C |
A |
3: 89,374,956 (GRCm39) |
Q139K |
probably benign |
Het |
| Pramel30 |
T |
A |
4: 144,059,678 (GRCm39) |
I463N |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,967,523 (GRCm39) |
C136S |
probably damaging |
Het |
| Rcor3 |
A |
G |
1: 191,786,050 (GRCm39) |
V396A |
probably damaging |
Het |
| Rgs20 |
C |
A |
1: 4,982,629 (GRCm39) |
E147* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,540,777 (GRCm39) |
L170F |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,395,553 (GRCm39) |
T164A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,266,288 (GRCm39) |
Q210R |
probably benign |
Het |
| Slc52a3 |
A |
T |
2: 151,846,299 (GRCm39) |
I87F |
probably benign |
Het |
| Sntn |
A |
T |
14: 13,682,364 (GRCm38) |
M146L |
|
Het |
| Svep1 |
C |
T |
4: 58,179,697 (GRCm39) |
R182H |
possibly damaging |
Het |
| Taar7f |
A |
G |
10: 23,926,311 (GRCm39) |
I302V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,746,090 (GRCm39) |
I17V |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,836,748 (GRCm39) |
T270A |
probably benign |
Het |
| Trpm5 |
C |
T |
7: 142,638,860 (GRCm39) |
E304K |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,809,863 (GRCm39) |
D311G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,035 (GRCm39) |
F608I |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,195,159 (GRCm39) |
C722* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,853,407 (GRCm39) |
T36A |
probably damaging |
Het |
| Ybx2 |
C |
T |
11: 69,831,188 (GRCm39) |
P261L |
|
Het |
| Zfp101 |
C |
T |
17: 33,601,418 (GRCm39) |
V113I |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,249 (GRCm39) |
S50P |
probably benign |
Het |
| Zfp319 |
A |
T |
8: 96,054,922 (GRCm39) |
F427Y |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,347 (GRCm39) |
S497P |
possibly damaging |
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 |
|
R8782:Mroh1
|
UTSW |
15 |
76,298,496 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
|
Z1177:Mroh1
|
UTSW |
15 |
76,307,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGAGGCCTGGATCCTTCTCAG -3'
(R):5'- GTCCTTGTCAGAAAAGACTGAGG -3'
Sequencing Primer
(F):5'- TGGATCCTTCTCAGCCAGAGTG -3'
(R):5'- CTTGTCAGAAAAGACTGAGGCAAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation