Incidental Mutation 'R8544:Mroh1'
| ID |
659559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
068509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 76327558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1127
(E1127*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000161305]
|
| AlphaFold |
E0CZ22 |
| Predicted Effect |
probably benign
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
AA Change: E1127*
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: E1127*
| 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: ENSMUST00000161305
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
A |
15: 37,425,979 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,832,461 (GRCm39) |
L1171H |
probably damaging |
Het |
| Ace |
A |
T |
11: 105,862,116 (GRCm39) |
|
probably null |
Het |
| Adsl |
G |
T |
15: 80,832,734 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,585,890 (GRCm39) |
M215T |
probably benign |
Het |
| Cabp2 |
A |
T |
19: 4,134,892 (GRCm39) |
R77S |
probably damaging |
Het |
| Cast |
A |
T |
13: 74,882,177 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,586,358 (GRCm39) |
Y946N |
unknown |
Het |
| Ccdc9b |
C |
T |
2: 118,587,702 (GRCm39) |
R544K |
unknown |
Het |
| Chst14 |
A |
G |
2: 118,758,010 (GRCm39) |
Y268C |
probably damaging |
Het |
| Dennd1a |
T |
C |
2: 37,872,920 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 30,990,861 (GRCm39) |
Y3153H |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,973,856 (GRCm39) |
V271A |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fam234b |
A |
G |
6: 135,210,287 (GRCm39) |
Y561C |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,195,448 (GRCm39) |
|
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,907,160 (GRCm39) |
M541K |
probably damaging |
Het |
| Gjd3 |
C |
A |
11: 98,873,488 (GRCm39) |
E119* |
probably null |
Het |
| Gm266 |
T |
C |
12: 111,451,799 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gng11 |
G |
A |
6: 4,008,045 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Gse1 |
G |
A |
8: 121,280,391 (GRCm39) |
V36I |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,568,981 (GRCm39) |
T477A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,397,598 (GRCm39) |
H335L |
probably damaging |
Het |
| Kcnc2 |
A |
T |
10: 112,292,101 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhl40 |
C |
T |
9: 121,607,892 (GRCm39) |
H351Y |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,201 (GRCm39) |
L382P |
probably benign |
Het |
| Lenep |
A |
T |
3: 89,309,784 (GRCm39) |
C55S |
possibly damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,970 (GRCm39) |
Y248* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,038,325 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
T |
C |
10: 80,955,376 (GRCm39) |
M32T |
possibly damaging |
Het |
| Mnt |
A |
G |
11: 74,722,218 (GRCm39) |
R22G |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,502,735 (GRCm39) |
R930G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,608,935 (GRCm39) |
V644A |
probably benign |
Het |
| Ngf |
G |
T |
3: 102,427,991 (GRCm39) |
V247F |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,018 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,312 (GRCm39) |
E22G |
possibly damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,938 (GRCm39) |
I87N |
probably damaging |
Het |
| Phf12 |
A |
C |
11: 77,918,235 (GRCm39) |
I816L |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,593,199 (GRCm39) |
G1638V |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,512,903 (GRCm39) |
S67R |
probably benign |
Het |
| Plekhf1 |
A |
G |
7: 37,920,768 (GRCm39) |
F267L |
probably damaging |
Het |
| Poc1b |
A |
T |
10: 98,960,770 (GRCm39) |
K60* |
probably null |
Het |
| Ppic |
G |
A |
18: 53,544,612 (GRCm39) |
T66M |
probably damaging |
Het |
| Prep |
G |
T |
10: 45,029,223 (GRCm39) |
G541V |
probably damaging |
Het |
| Rasal3 |
C |
T |
17: 32,611,093 (GRCm39) |
V947I |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,035,124 (GRCm39) |
R319G |
probably damaging |
Het |
| Rbm34 |
A |
G |
8: 127,696,821 (GRCm39) |
S94P |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Sacm1l |
T |
C |
9: 123,406,123 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,213,295 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,499,841 (GRCm39) |
T215S |
probably benign |
Het |
| Sfrp4 |
A |
G |
13: 19,816,336 (GRCm39) |
|
probably null |
Het |
| Slc37a3 |
T |
C |
6: 39,321,297 (GRCm39) |
I406V |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sptbn1 |
C |
A |
11: 30,169,750 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,342,114 (GRCm39) |
Y275H |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,885,008 (GRCm39) |
C137* |
probably null |
Het |
| Svep1 |
A |
G |
4: 58,206,025 (GRCm39) |
S118P |
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,656 (GRCm39) |
|
probably null |
Het |
| Tril |
C |
T |
6: 53,796,295 (GRCm39) |
S309N |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,386,094 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,874,356 (GRCm39) |
|
probably null |
Het |
| Tyr |
T |
C |
7: 87,142,000 (GRCm39) |
T110A |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,789,702 (GRCm39) |
F711C |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,800,480 (GRCm39) |
V267D |
probably damaging |
Het |
| Virma |
C |
A |
4: 11,516,949 (GRCm39) |
D714E |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,564,773 (GRCm39) |
Q220P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,911,191 (GRCm39) |
I701V |
|
Het |
| Vwde |
T |
A |
6: 13,187,652 (GRCm39) |
M612L |
probably benign |
Het |
| Wwox |
A |
G |
8: 115,215,646 (GRCm39) |
T140A |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
T |
A |
17: 27,193,448 (GRCm39) |
C284* |
probably null |
Het |
| Zdhhc12 |
C |
A |
2: 29,983,486 (GRCm39) |
A39S |
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,758,227 (GRCm39) |
I720K |
possibly damaging |
Het |
| Zfp595 |
G |
A |
13: 67,465,244 (GRCm39) |
R340C |
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 |
|
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 |
|
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'- GATGTGTACAGAGTTTCAAAGCC -3'
(R):5'- TGCCTTGAATACCTGAGAGGC -3'
Sequencing Primer
(F):5'- GAGTTTCAAAGCCTGACTGC -3'
(R):5'- TCACAAGCCTAGGTCTATGGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation