Incidental Mutation 'R6008:Mroh1'
ID |
479617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
044185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R6008 (G1)
|
Quality Score |
172.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76335557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1400
(H1400L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023217]
[ENSMUST00000096385]
[ENSMUST00000159218]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023217
|
SMART Domains |
Protein: ENSMUSP00000023217 Gene: ENSMUSG00000022557
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
BOP1NT
|
130 |
388 |
1.38e-177 |
SMART |
WD40
|
388 |
427 |
1.16e-9 |
SMART |
WD40
|
430 |
469 |
6.16e0 |
SMART |
WD40
|
508 |
551 |
7.1e1 |
SMART |
WD40
|
554 |
592 |
4.46e-1 |
SMART |
WD40
|
595 |
634 |
2.76e-2 |
SMART |
WD40
|
638 |
677 |
4.14e-6 |
SMART |
WD40
|
689 |
732 |
3.14e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096385
AA Change: H1400L
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: H1400L
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
AA Change: H1391L
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: H1391L
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: ENSMUST00000160525
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161962
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
Meta Mutation Damage Score |
0.2203 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
G |
14: 118,727,978 (GRCm39) |
L1268P |
possibly damaging |
Het |
Acot3 |
T |
A |
12: 84,103,860 (GRCm39) |
V223E |
probably damaging |
Het |
Afap1 |
T |
G |
5: 36,154,895 (GRCm39) |
S680A |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,116,672 (GRCm39) |
A801V |
probably damaging |
Het |
Atp8b1 |
G |
T |
18: 64,710,687 (GRCm39) |
T155K |
probably damaging |
Het |
Bard1 |
C |
A |
1: 71,069,909 (GRCm39) |
V690F |
possibly damaging |
Het |
Btnl9 |
C |
A |
11: 49,073,792 (GRCm39) |
|
probably null |
Het |
C1rl |
A |
G |
6: 124,470,147 (GRCm39) |
N13S |
probably benign |
Het |
Cad |
C |
A |
5: 31,226,456 (GRCm39) |
T1166K |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,393,334 (GRCm39) |
M405K |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,825,944 (GRCm39) |
|
probably null |
Het |
Ctnna2 |
A |
G |
6: 76,892,811 (GRCm39) |
L792P |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,438,929 (GRCm39) |
V1099D |
possibly damaging |
Het |
Dnai2 |
A |
G |
11: 114,643,816 (GRCm39) |
N482S |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,583,890 (GRCm39) |
T184A |
probably damaging |
Het |
Ear2 |
T |
A |
14: 44,340,546 (GRCm39) |
L68H |
probably damaging |
Het |
Edn3 |
A |
G |
2: 174,621,525 (GRCm39) |
T149A |
probably benign |
Het |
Erf |
C |
T |
7: 24,945,041 (GRCm39) |
V131M |
probably benign |
Het |
Esp34 |
A |
G |
17: 38,865,118 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golga1 |
A |
G |
2: 38,937,099 (GRCm39) |
V161A |
probably benign |
Het |
Gpr17 |
T |
A |
18: 32,080,530 (GRCm39) |
T178S |
probably benign |
Het |
Gsg1l2 |
T |
A |
11: 67,665,537 (GRCm39) |
I35N |
possibly damaging |
Het |
Hmgn3 |
T |
A |
9: 82,994,284 (GRCm39) |
T46S |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,325,717 (GRCm39) |
I4709L |
probably benign |
Het |
Ifna9 |
A |
T |
4: 88,510,600 (GRCm39) |
L8Q |
probably null |
Het |
Iftap |
A |
T |
2: 101,413,898 (GRCm39) |
M133K |
possibly damaging |
Het |
Kpna4 |
T |
C |
3: 69,034,066 (GRCm39) |
E125G |
probably null |
Het |
Lrriq1 |
A |
G |
10: 103,006,325 (GRCm39) |
S1267P |
probably damaging |
Het |
Mab21l1 |
G |
T |
3: 55,690,518 (GRCm39) |
C35F |
possibly damaging |
Het |
Map3k2 |
A |
G |
18: 32,336,104 (GRCm39) |
D97G |
probably damaging |
Het |
Matcap2 |
G |
A |
9: 22,335,422 (GRCm39) |
W13* |
probably null |
Het |
Mdn1 |
T |
A |
4: 32,741,073 (GRCm39) |
I3799N |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,299,158 (GRCm39) |
R1959C |
probably damaging |
Het |
Mroh4 |
T |
A |
15: 74,497,321 (GRCm39) |
K167* |
probably null |
Het |
Mroh8 |
A |
G |
2: 157,094,984 (GRCm39) |
I334T |
probably benign |
Het |
Or51a25 |
T |
A |
7: 102,373,574 (GRCm39) |
Y41F |
probably damaging |
Het |
Phf11d |
T |
A |
14: 59,602,898 (GRCm39) |
|
probably benign |
Het |
Phf21a |
C |
T |
2: 92,182,097 (GRCm39) |
T342I |
possibly damaging |
Het |
Pira12 |
G |
T |
7: 3,897,599 (GRCm39) |
H499N |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,055,591 (GRCm39) |
E483G |
possibly damaging |
Het |
Ppp1r3b |
G |
A |
8: 35,851,355 (GRCm39) |
A65T |
probably damaging |
Het |
Pramel30 |
C |
T |
4: 144,057,777 (GRCm39) |
T128I |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,496,158 (GRCm39) |
V961A |
probably damaging |
Het |
Scgb2b27 |
T |
C |
7: 33,711,561 (GRCm39) |
E96G |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,086,025 (GRCm39) |
E522V |
probably damaging |
Het |
Socs4 |
T |
G |
14: 47,527,618 (GRCm39) |
C184W |
probably damaging |
Het |
Spdye4c |
A |
T |
2: 128,438,553 (GRCm39) |
I304F |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,789,306 (GRCm39) |
I1249V |
possibly damaging |
Het |
Sys1 |
T |
C |
2: 164,306,507 (GRCm39) |
S154P |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,755,530 (GRCm39) |
Q275R |
possibly damaging |
Het |
Tas2r107 |
A |
G |
6: 131,636,875 (GRCm39) |
V58A |
possibly damaging |
Het |
Thada |
T |
A |
17: 84,744,062 (GRCm39) |
I749F |
probably damaging |
Het |
Tubb1 |
T |
A |
2: 174,299,567 (GRCm39) |
H416Q |
probably benign |
Het |
Vmn2r109 |
G |
A |
17: 20,760,981 (GRCm39) |
T792I |
probably damaging |
Het |
Zfp988 |
A |
G |
4: 147,416,259 (GRCm39) |
Q231R |
probably benign |
Het |
Zmynd8 |
T |
C |
2: 165,684,707 (GRCm39) |
I182V |
possibly damaging |
Het |
Zzz3 |
T |
C |
3: 152,133,788 (GRCm39) |
V282A |
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 |
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 |
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'- AAAGGATTCCAGTGCCAGC -3'
(R):5'- TACACTGTCAAAGAAGGGCCG -3'
Sequencing Primer
(F):5'- ATTCCAGTGCCAGCGTACG -3'
(R):5'- TCAAAGAAGGGCCGGATGC -3'
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Posted On |
2017-06-26 |