Incidental Mutation 'R4745:Mroh1'
ID |
356682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
042028-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R4745 (G1)
|
Quality Score |
225 |
Status
|
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 A
at 76292730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000159218]
[ENSMUST00000161305]
[ENSMUST00000162319]
[ENSMUST00000162319]
|
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: 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 null
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 |
probably null
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: ENSMUST00000160986
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162204
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162319
|
SMART Domains |
Protein: ENSMUSP00000124353 Gene: ENSMUSG00000022558
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
4 |
267 |
9e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162319
|
SMART Domains |
Protein: ENSMUSP00000124353 Gene: ENSMUSG00000022558
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
4 |
267 |
9e-6 |
SMART |
|
Meta Mutation Damage Score |
0.9482 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (89/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,526,427 (GRCm39) |
Y619C |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,368,949 (GRCm39) |
|
probably null |
Het |
Agap3 |
A |
C |
5: 24,656,123 (GRCm39) |
|
probably null |
Het |
Ankib1 |
A |
T |
5: 3,782,566 (GRCm39) |
H354Q |
probably damaging |
Het |
Ankrd29 |
T |
G |
18: 12,387,679 (GRCm39) |
N301T |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,846,356 (GRCm39) |
T379A |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,480,417 (GRCm39) |
V169A |
probably benign |
Het |
Bag2 |
T |
C |
1: 33,787,417 (GRCm39) |
|
probably null |
Het |
Bmt2 |
A |
C |
6: 13,628,686 (GRCm39) |
Y332* |
probably null |
Het |
Bpifb1 |
A |
T |
2: 154,053,501 (GRCm39) |
K248* |
probably null |
Het |
Caap1 |
C |
A |
4: 94,444,751 (GRCm39) |
|
probably null |
Het |
Calcr |
T |
A |
6: 3,692,576 (GRCm39) |
Y389F |
probably damaging |
Het |
Capn1 |
C |
T |
19: 6,043,946 (GRCm39) |
V562I |
probably benign |
Het |
Ccr1 |
T |
A |
9: 123,763,985 (GRCm39) |
T182S |
probably benign |
Het |
Ceacam15 |
T |
C |
7: 16,407,259 (GRCm39) |
D86G |
probably benign |
Het |
Cldnd1 |
C |
T |
16: 58,550,006 (GRCm39) |
T63I |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,559,368 (GRCm39) |
|
probably null |
Het |
Cystm1 |
A |
G |
18: 36,526,348 (GRCm39) |
|
probably benign |
Het |
Ddx55 |
T |
A |
5: 124,705,028 (GRCm39) |
Y428* |
probably null |
Het |
Ensa |
G |
A |
3: 95,538,745 (GRCm39) |
G118D |
probably benign |
Het |
Folh1 |
A |
T |
7: 86,372,482 (GRCm39) |
|
probably null |
Het |
Foxj2 |
C |
A |
6: 122,814,948 (GRCm39) |
P328Q |
probably damaging |
Het |
Fscn3 |
A |
G |
6: 28,435,627 (GRCm39) |
I417V |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 57,995,761 (GRCm39) |
|
probably benign |
Het |
Gm11563 |
T |
A |
11: 99,549,246 (GRCm39) |
*169C |
probably null |
Het |
Hfm1 |
A |
T |
5: 107,049,709 (GRCm39) |
D417E |
possibly damaging |
Het |
Ighv15-2 |
A |
G |
12: 114,528,230 (GRCm39) |
S107P |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,711,944 (GRCm39) |
D904G |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,322,339 (GRCm39) |
L860* |
probably null |
Het |
Krt79 |
T |
C |
15: 101,839,119 (GRCm39) |
E450G |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,045,775 (GRCm39) |
S227P |
probably damaging |
Het |
Lamp5 |
C |
A |
2: 135,902,786 (GRCm39) |
H168Q |
probably benign |
Het |
Lilra5 |
A |
T |
7: 4,245,076 (GRCm39) |
Q240L |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,385,813 (GRCm39) |
C3521S |
probably benign |
Het |
Nlrp4g |
A |
T |
9: 124,349,515 (GRCm38) |
|
noncoding transcript |
Het |
Nr2f6 |
A |
T |
8: 71,831,179 (GRCm39) |
I70N |
probably benign |
Het |
Nr4a2 |
T |
A |
2: 57,000,163 (GRCm39) |
D311V |
probably damaging |
Het |
Odad2 |
G |
A |
18: 7,286,763 (GRCm39) |
T156M |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,632,750 (GRCm39) |
M319K |
probably benign |
Het |
Or10x4 |
T |
C |
1: 174,219,442 (GRCm39) |
L269P |
probably damaging |
Het |
Or52n20 |
T |
A |
7: 104,320,711 (GRCm39) |
F267L |
probably damaging |
Het |
Pcdhb6 |
C |
A |
18: 37,468,426 (GRCm39) |
A449D |
possibly damaging |
Het |
Pcgf6 |
A |
G |
19: 47,036,545 (GRCm39) |
|
probably null |
Het |
Prc1 |
C |
A |
7: 79,962,911 (GRCm39) |
H131Q |
probably benign |
Het |
Ptprq |
C |
A |
10: 107,360,114 (GRCm39) |
R2187L |
probably damaging |
Het |
Rasl2-9 |
C |
A |
7: 5,128,702 (GRCm39) |
R76L |
possibly damaging |
Het |
Rdh16f1 |
A |
T |
10: 127,626,685 (GRCm39) |
Y246F |
probably benign |
Het |
Rit1 |
T |
C |
3: 88,624,982 (GRCm39) |
|
probably benign |
Het |
Sash1 |
A |
G |
10: 8,605,672 (GRCm39) |
V906A |
probably benign |
Het |
Scnn1b |
T |
C |
7: 121,501,509 (GRCm39) |
V108A |
probably benign |
Het |
Sema4f |
A |
T |
6: 82,895,265 (GRCm39) |
I356N |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,491,197 (GRCm39) |
L447Q |
probably damaging |
Het |
Slc24a1 |
T |
C |
9: 64,856,758 (GRCm39) |
M50V |
unknown |
Het |
Slc28a3 |
T |
A |
13: 58,722,077 (GRCm39) |
D269V |
possibly damaging |
Het |
Slc35e1 |
A |
G |
8: 73,246,166 (GRCm39) |
S89P |
possibly damaging |
Het |
Smpd5 |
T |
A |
15: 76,179,008 (GRCm39) |
H125Q |
probably benign |
Het |
Snapc2 |
A |
G |
8: 4,304,578 (GRCm39) |
T31A |
probably damaging |
Het |
Sox5 |
G |
C |
6: 143,779,214 (GRCm39) |
H606D |
possibly damaging |
Het |
Spag6 |
A |
G |
2: 18,742,107 (GRCm39) |
T367A |
possibly damaging |
Het |
Spag8 |
T |
C |
4: 43,651,636 (GRCm39) |
T413A |
probably damaging |
Het |
Sptlc3 |
G |
A |
2: 139,389,087 (GRCm39) |
G156R |
probably damaging |
Het |
Stx19 |
A |
G |
16: 62,642,783 (GRCm39) |
T200A |
probably benign |
Het |
Tas2r116 |
A |
G |
6: 132,832,668 (GRCm39) |
T90A |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,640,069 (GRCm39) |
T356I |
probably benign |
Het |
Tbl3 |
A |
G |
17: 24,924,304 (GRCm39) |
|
probably benign |
Het |
Tekt5 |
G |
T |
16: 10,213,058 (GRCm39) |
P76T |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,074,030 (GRCm39) |
E1086K |
possibly damaging |
Het |
Topbp1 |
T |
C |
9: 103,200,770 (GRCm39) |
L601P |
probably damaging |
Het |
Trav16 |
T |
A |
14: 53,980,934 (GRCm39) |
M41K |
possibly damaging |
Het |
Trav6-5 |
C |
A |
14: 53,728,960 (GRCm39) |
N72K |
probably benign |
Het |
Trpm3 |
C |
G |
19: 22,692,659 (GRCm39) |
T250S |
possibly damaging |
Het |
Vps35 |
A |
T |
8: 85,987,891 (GRCm39) |
D753E |
probably benign |
Het |
Vstm2a |
A |
T |
11: 16,213,061 (GRCm39) |
N149Y |
probably damaging |
Het |
Vwa2 |
G |
T |
19: 56,895,318 (GRCm39) |
M497I |
probably benign |
Het |
Zfat |
C |
A |
15: 68,052,223 (GRCm39) |
V517L |
probably benign |
Het |
Zfp169 |
C |
A |
13: 48,643,708 (GRCm39) |
R473L |
possibly damaging |
Het |
Zfp672 |
T |
C |
11: 58,220,324 (GRCm39) |
|
probably benign |
Het |
Zranb1 |
T |
C |
7: 132,574,443 (GRCm39) |
V420A |
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 |
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 |
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'- AACCGTAGACATAGGGCTCAGG -3'
(R):5'- AAGCAATGTGTTTTCTGGGTCAC -3'
Sequencing Primer
(F):5'- CATAGGGCTCAGGGCAGG -3'
(R):5'- CTGGGTCACAGGTCACTATG -3'
|
Posted On |
2015-11-11 |