Incidental Mutation 'R0180:Mroh1'
| ID |
23861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R0180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76312450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 546
(S546T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000160631]
[ENSMUST00000161305]
|
| AlphaFold |
E0CZ22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092595
AA Change: S546T
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: S546T
| 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: S546T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: S546T
| 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 |
possibly damaging
Transcript: ENSMUST00000159218
AA Change: S546T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: S546T
| 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 |
possibly damaging
Transcript: ENSMUST00000161305
AA Change: S546T
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183412
|
| Meta Mutation Damage Score |
0.2170 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 89.5%
|
| Validation Efficiency |
77% (53/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,630,003 (GRCm39) |
N24Y |
probably damaging |
Het |
| 2810408A11Rik |
A |
T |
11: 69,789,702 (GRCm39) |
M311K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,737,982 (GRCm39) |
I119T |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,198 (GRCm39) |
M336V |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,634,082 (GRCm39) |
F374I |
probably benign |
Het |
| Apob |
C |
T |
12: 8,058,285 (GRCm39) |
Q2256* |
probably null |
Het |
| Arg1 |
T |
C |
10: 24,792,728 (GRCm39) |
I169V |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| B3gnt5 |
T |
A |
16: 19,587,850 (GRCm39) |
I23K |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,856 (GRCm39) |
|
probably null |
Het |
| Celf3 |
T |
A |
3: 94,392,647 (GRCm39) |
F115L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,968,559 (GRCm39) |
H984Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,351 (GRCm39) |
V493A |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,450,620 (GRCm39) |
G376S |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,890 (GRCm39) |
H356R |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cracr2a |
T |
C |
6: 127,581,037 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,310,559 (GRCm39) |
H62R |
probably damaging |
Het |
| Cyp4f40 |
G |
T |
17: 32,878,641 (GRCm39) |
W61L |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,116 (GRCm39) |
H140P |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,128,944 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
G |
2: 32,218,005 (GRCm39) |
I464L |
probably damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,713 (GRCm39) |
M297V |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,124,755 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
T |
9: 101,804,703 (GRCm39) |
M905K |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,743,922 (GRCm39) |
Y276C |
probably benign |
Het |
| Fermt3 |
C |
A |
19: 6,979,711 (GRCm39) |
S474I |
possibly damaging |
Het |
| Frg1 |
T |
A |
8: 41,852,105 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,274,161 (GRCm39) |
S1732P |
probably benign |
Het |
| Gbp8 |
A |
C |
5: 105,179,142 (GRCm39) |
L119R |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,078,217 (GRCm39) |
A927T |
possibly damaging |
Het |
| Gm8836 |
T |
A |
6: 70,237,389 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
T |
4: 135,281,841 (GRCm39) |
V344I |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,329 (GRCm39) |
L745H |
probably damaging |
Het |
| Ido1 |
T |
C |
8: 25,083,156 (GRCm39) |
I90V |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,403,407 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
G |
4: 149,298,116 (GRCm39) |
S1029R |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,738,148 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,698,115 (GRCm39) |
N215D |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,089,368 (GRCm39) |
K144E |
probably benign |
Het |
| Mfsd6l |
A |
T |
11: 68,447,371 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,955,804 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
G |
A |
9: 44,166,756 (GRCm39) |
H776Y |
possibly damaging |
Het |
| Nptxr |
T |
C |
15: 79,678,604 (GRCm39) |
M228V |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,821,606 (GRCm39) |
L13F |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,736,283 (GRCm39) |
E68G |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,703 (GRCm39) |
R307S |
possibly damaging |
Het |
| Or51r1 |
A |
G |
7: 102,228,239 (GRCm39) |
Y179C |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,535,307 (GRCm39) |
N434D |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,127 (GRCm39) |
D313G |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,529,299 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
C |
1: 135,814,538 (GRCm39) |
K261R |
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,574,250 (GRCm39) |
|
probably null |
Het |
| Polr3b |
A |
G |
10: 84,458,379 (GRCm39) |
T17A |
probably benign |
Het |
| Ppt2 |
A |
T |
17: 34,845,477 (GRCm39) |
M98K |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,618,379 (GRCm39) |
D142G |
probably benign |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Rhbdf1 |
A |
T |
11: 32,160,042 (GRCm39) |
V153D |
possibly damaging |
Het |
| Slc6a3 |
C |
T |
13: 73,710,455 (GRCm39) |
T355M |
probably damaging |
Het |
| Snrnp35 |
A |
T |
5: 124,628,883 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,311,189 (GRCm39) |
I37N |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,278,109 (GRCm39) |
P1133Q |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,124 (GRCm39) |
I413V |
probably benign |
Het |
| Trappc11 |
G |
T |
8: 47,981,009 (GRCm39) |
T144K |
possibly damaging |
Het |
| Triml2 |
A |
T |
8: 43,643,346 (GRCm39) |
I223L |
probably benign |
Het |
| Ube2g2 |
T |
A |
10: 77,466,573 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,047 (GRCm39) |
Y348H |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,124,372 (GRCm39) |
F840L |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,549,349 (GRCm39) |
I771V |
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp106 |
T |
G |
2: 120,364,356 (GRCm39) |
T684P |
probably damaging |
Het |
| Zfp217 |
A |
T |
2: 169,962,057 (GRCm39) |
L90Q |
probably 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 |
|
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 |
|
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'- GCGTGACCGAGCTTACTCTGATAG -3'
(R):5'- GTTTCTTTCAACCCGAACGGCATAC -3'
Sequencing Primer
(F):5'- ACTCTGATAGAAGAGTGGCCTCTC -3'
(R):5'- CGAACGGCATACTGGGTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation