Incidental Mutation 'R6302:Mroh1'
| ID |
509311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
044467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 76320319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000160631]
[ENSMUST00000161305]
|
| AlphaFold |
E0CZ22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092595
|
| SMART Domains |
Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
| 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 null
Transcript: ENSMUST00000096385
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
| 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: ENSMUST00000159218
|
| SMART Domains |
Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
| 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
|
790 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
937 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1193 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1358 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1493 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
1601 |
1631 |
1.3e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160631
|
| SMART Domains |
Protein: ENSMUSP00000123806
Gene: ENSMUSG00000022558
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161962
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
T |
4: 144,396,760 (GRCm39) |
S324* |
probably null |
Het |
| Actl11 |
T |
G |
9: 107,806,772 (GRCm39) |
V365G |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,317,227 (GRCm39) |
D531V |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,616,728 (GRCm39) |
S2354P |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,684,221 (GRCm39) |
W514R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,589 (GRCm39) |
V266E |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,167,634 (GRCm39) |
I1345T |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,801,587 (GRCm39) |
M355I |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,554,402 (GRCm39) |
S699P |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,140,872 (GRCm39) |
I3161L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,244,604 (GRCm39) |
T1257A |
probably damaging |
Het |
| Cnnm4 |
C |
T |
1: 36,539,036 (GRCm39) |
T638I |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,646 (GRCm39) |
D1925G |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,936 (GRCm39) |
T86A |
probably damaging |
Het |
| Cyp3a63-ps |
A |
G |
5: 145,564,847 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah14 |
T |
A |
1: 181,428,771 (GRCm39) |
I259N |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,981 (GRCm39) |
D22G |
probably benign |
Het |
| Epn2 |
T |
G |
11: 61,437,312 (GRCm39) |
T87P |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,874,578 (GRCm39) |
L81P |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,323,970 (GRCm39) |
D221E |
probably damaging |
Het |
| Gm8356 |
T |
C |
14: 17,691,275 (GRCm39) |
Y130C |
probably damaging |
Het |
| Gpr151 |
T |
G |
18: 42,712,459 (GRCm39) |
K73T |
probably damaging |
Het |
| Helq |
A |
C |
5: 100,946,305 (GRCm39) |
V12G |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,806 (GRCm39) |
T74A |
probably benign |
Het |
| Kirrel3 |
G |
A |
9: 34,919,045 (GRCm39) |
V234I |
probably damaging |
Het |
| Kxd1 |
T |
A |
8: 70,972,713 (GRCm39) |
|
probably null |
Het |
| Lif |
T |
C |
11: 4,218,924 (GRCm39) |
Y68H |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,314 (GRCm39) |
Q406R |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,830,527 (GRCm39) |
M86L |
probably benign |
Het |
| Mei1 |
T |
A |
15: 81,987,439 (GRCm39) |
Y834* |
probably null |
Het |
| Myo15b |
T |
C |
11: 115,777,065 (GRCm39) |
I2319T |
possibly damaging |
Het |
| Myo7b |
T |
G |
18: 32,127,439 (GRCm39) |
D621A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,426,351 (GRCm39) |
D254G |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,024,921 (GRCm39) |
R560G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,464 (GRCm39) |
F265L |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,852,926 (GRCm39) |
L208H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,018,910 (GRCm39) |
T312S |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,610,097 (GRCm39) |
S390G |
probably damaging |
Het |
| Plcxd3 |
C |
T |
15: 4,546,239 (GRCm39) |
T81M |
probably damaging |
Het |
| Pmf1 |
C |
T |
3: 88,307,017 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
T |
C |
11: 70,825,947 (GRCm39) |
V739A |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,142,451 (GRCm39) |
D313G |
possibly damaging |
Het |
| Rpia |
C |
T |
6: 70,750,485 (GRCm39) |
V216I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
A |
6: 113,712,167 (GRCm39) |
H56L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,817 (GRCm39) |
V1733D |
probably damaging |
Het |
| Sim2 |
G |
A |
16: 93,898,089 (GRCm39) |
A108T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,722,479 (GRCm39) |
D665G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,383,849 (GRCm39) |
V180E |
probably damaging |
Het |
| Smarcad1 |
T |
G |
6: 65,052,122 (GRCm39) |
N38K |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,709,091 (GRCm39) |
T45A |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,057,432 (GRCm39) |
S714P |
probably benign |
Het |
| Taar7b |
T |
A |
10: 23,876,158 (GRCm39) |
S108T |
possibly damaging |
Het |
| Tbl3 |
T |
C |
17: 24,923,645 (GRCm39) |
K256E |
probably benign |
Het |
| Tcam1 |
T |
G |
11: 106,177,276 (GRCm39) |
C423G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,592,662 (GRCm39) |
C231R |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,365,397 (GRCm39) |
P337S |
probably damaging |
Het |
| Vmn2r83 |
A |
C |
10: 79,304,837 (GRCm39) |
T16P |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,182,189 (GRCm39) |
F589S |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,961 (GRCm39) |
T410A |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,742,726 (GRCm39) |
T4A |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,122,438 (GRCm39) |
L268P |
probably damaging |
Het |
| Zbtb41 |
C |
A |
1: 139,357,027 (GRCm39) |
N427K |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,771 (GRCm39) |
T414A |
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 |
|
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 |
|
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'- TGGGGTCAGACTGGAATCAC -3'
(R):5'- CACCATTGAGCATACCTTGATCC -3'
Sequencing Primer
(F):5'- ATCACTGGGGAAGGCTTCAGTC -3'
(R):5'- GAGCATACCTTGATCCTGCCCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation