Incidental Mutation 'R5574:Mroh1'
ID |
437132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
043129-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5574 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76318131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 877
(V877D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000160631]
[ENSMUST00000161305]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
AA Change: V877D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558 AA Change: V877D
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 benign
Transcript: ENSMUST00000096385
AA Change: V886D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: V886D
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: V877D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: V877D
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 benign
Transcript: ENSMUST00000161305
AA Change: V877D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183412
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
A |
14: 59,380,205 (GRCm39) |
N31I |
possibly damaging |
Het |
Acvr1b |
T |
A |
15: 101,099,958 (GRCm39) |
M304K |
probably benign |
Het |
Adamts1 |
G |
T |
16: 85,596,530 (GRCm39) |
D106E |
probably damaging |
Het |
Atosa |
A |
T |
9: 74,917,672 (GRCm39) |
D757V |
probably damaging |
Het |
Blm |
C |
A |
7: 80,149,521 (GRCm39) |
C696F |
probably damaging |
Het |
Bnip3l-ps |
T |
A |
12: 18,267,119 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc171 |
A |
T |
4: 83,611,990 (GRCm39) |
N895I |
probably damaging |
Het |
Cdhr4 |
A |
T |
9: 107,870,527 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
T |
C |
8: 46,623,179 (GRCm39) |
S190P |
probably damaging |
Het |
Chrnb1 |
A |
C |
11: 69,684,509 (GRCm39) |
|
probably benign |
Het |
Clns1a |
A |
G |
7: 97,370,165 (GRCm39) |
|
probably benign |
Het |
Col8a2 |
G |
A |
4: 126,205,061 (GRCm39) |
|
probably benign |
Het |
Cr2 |
T |
A |
1: 194,823,544 (GRCm39) |
E721V |
probably damaging |
Het |
Csk |
A |
G |
9: 57,536,584 (GRCm39) |
V172A |
probably benign |
Het |
Cyp2g1 |
G |
A |
7: 26,520,165 (GRCm39) |
V466M |
possibly damaging |
Het |
Cyp4f13 |
A |
G |
17: 33,148,179 (GRCm39) |
Y349H |
probably benign |
Het |
Dnm1l |
T |
C |
16: 16,147,685 (GRCm39) |
Y205C |
probably damaging |
Het |
Dync1i2 |
A |
T |
2: 71,063,994 (GRCm39) |
T113S |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,558,075 (GRCm39) |
E186G |
probably damaging |
Het |
Eya2 |
G |
A |
2: 165,605,736 (GRCm39) |
R380H |
probably damaging |
Het |
Gldn |
A |
G |
9: 54,220,206 (GRCm39) |
T132A |
probably damaging |
Het |
Gm13941 |
A |
T |
2: 110,930,951 (GRCm39) |
I74K |
unknown |
Het |
Gm3898 |
C |
T |
9: 43,741,339 (GRCm39) |
|
noncoding transcript |
Het |
Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
Klhdc10 |
C |
T |
6: 30,439,864 (GRCm39) |
L127F |
possibly damaging |
Het |
Letm1 |
G |
A |
5: 33,926,730 (GRCm39) |
T189M |
possibly damaging |
Het |
Lrrc17 |
A |
T |
5: 21,775,355 (GRCm39) |
I306F |
possibly damaging |
Het |
Lrrk2 |
T |
A |
15: 91,671,219 (GRCm39) |
V2000E |
probably damaging |
Het |
Mettl9 |
A |
T |
7: 120,647,093 (GRCm39) |
E66D |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,380,203 (GRCm39) |
V3760M |
possibly damaging |
Het |
Nos3 |
A |
G |
5: 24,573,859 (GRCm39) |
T208A |
possibly damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,590,842 (GRCm39) |
T70S |
possibly damaging |
Het |
Or4a72 |
C |
T |
2: 89,405,321 (GRCm39) |
V250I |
possibly damaging |
Het |
Or52a5b |
T |
G |
7: 103,417,323 (GRCm39) |
I94L |
possibly damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,535 (GRCm39) |
D181G |
probably damaging |
Het |
Or8b8 |
A |
T |
9: 37,808,877 (GRCm39) |
Y59F |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
Pate2 |
A |
G |
9: 35,597,411 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,280,942 (GRCm39) |
F447L |
probably benign |
Het |
Pias1 |
A |
G |
9: 62,827,775 (GRCm39) |
C211R |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,487,291 (GRCm39) |
S929G |
probably benign |
Het |
Pramel32 |
T |
G |
4: 88,546,280 (GRCm39) |
E354A |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,944,290 (GRCm39) |
|
probably benign |
Het |
Prex2 |
A |
G |
1: 11,210,282 (GRCm39) |
D574G |
probably damaging |
Het |
Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
Rmc1 |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,318,063 (GRCm39) |
|
probably null |
Het |
Rock2 |
T |
C |
12: 17,011,642 (GRCm39) |
M690T |
possibly damaging |
Het |
Sinhcaf |
C |
T |
6: 148,846,378 (GRCm39) |
|
probably benign |
Het |
Slc18a2 |
A |
G |
19: 59,249,837 (GRCm39) |
I25V |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,091,323 (GRCm39) |
I701K |
probably benign |
Het |
Sorcs1 |
T |
A |
19: 50,210,571 (GRCm39) |
N765Y |
probably damaging |
Het |
Ssh2 |
A |
T |
11: 77,340,941 (GRCm39) |
I698L |
probably benign |
Het |
Stam |
A |
G |
2: 14,120,675 (GRCm39) |
D58G |
probably damaging |
Het |
Thsd4 |
C |
A |
9: 59,879,683 (GRCm39) |
R1018L |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,929,998 (GRCm39) |
T2911A |
probably benign |
Het |
Trpm7 |
A |
C |
2: 126,654,950 (GRCm39) |
F1329L |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,826,168 (GRCm39) |
E126G |
possibly damaging |
Het |
Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
Unc45a |
G |
A |
7: 79,984,604 (GRCm39) |
A232V |
probably damaging |
Het |
Utp14b |
G |
A |
1: 78,644,126 (GRCm39) |
V675M |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,801,099 (GRCm39) |
H279L |
probably benign |
Het |
Vmn2r75 |
G |
T |
7: 85,815,510 (GRCm39) |
A118E |
probably benign |
Het |
Wdr36 |
A |
T |
18: 32,999,012 (GRCm39) |
Q886L |
probably damaging |
Het |
Zfp433 |
T |
A |
10: 81,555,125 (GRCm39) |
Y27* |
probably null |
Het |
Zfp715 |
A |
T |
7: 42,960,463 (GRCm39) |
S43T |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,286,698 (GRCm39) |
S2297P |
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 |
|
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 |
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'- CGTCTGAACGTAATGGTAGCTGG -3'
(R):5'- AGTCTTCAAGGGCACACACC -3'
Sequencing Primer
(F):5'- ATCCATGTAGGCCCAGTGGTTTC -3'
(R):5'- CACCGTGTCCAGATACAGAGG -3'
|
Posted On |
2016-10-26 |