Incidental Mutation 'R1491:Mroh7'
| ID |
163719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh7
|
| Ensembl Gene |
ENSMUSG00000047502 |
| Gene Name |
maestro heat-like repeat family member 7 |
| Synonyms |
Heatr8, LOC381538, Gm1027 |
| MMRRC Submission |
039543-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1491 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106680417-106730925 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106703058 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 683
(L683P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
AA Change: L683P
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: L683P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
573 |
N/A |
INTRINSIC |
|
SCOP:d1b3ua_
|
634 |
1218 |
6e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145374
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
T |
A |
12: 112,415,055 (GRCm38) |
|
noncoding transcript |
Het |
| Acss3 |
A |
G |
10: 106,937,308 (GRCm38) |
S606P |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,978,315 (GRCm38) |
T146M |
probably damaging |
Het |
| Adora2b |
G |
A |
11: 62,265,537 (GRCm38) |
V271M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,846,723 (GRCm38) |
Y55C |
probably damaging |
Het |
| AI987944 |
A |
C |
7: 41,374,348 (GRCm38) |
Y402* |
probably null |
Het |
| Angptl4 |
C |
T |
17: 33,781,191 (GRCm38) |
A68T |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,886,809 (GRCm38) |
I325M |
probably benign |
Het |
| Arfgap2 |
A |
G |
2: 91,274,859 (GRCm38) |
K423E |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,646,554 (GRCm38) |
S575T |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 102,860,332 (GRCm38) |
I40V |
possibly damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,819,733 (GRCm38) |
|
probably null |
Het |
| Arid1a |
C |
A |
4: 133,720,926 (GRCm38) |
S477I |
unknown |
Het |
| Armc7 |
T |
C |
11: 115,476,203 (GRCm38) |
V58A |
probably damaging |
Het |
| Arrdc5 |
A |
T |
17: 56,294,222 (GRCm38) |
I301N |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 25,964,479 (GRCm38) |
P343S |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,763,228 (GRCm38) |
R1002Q |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,437,490 (GRCm38) |
I759N |
possibly damaging |
Het |
| Cops5 |
A |
G |
1: 10,034,018 (GRCm38) |
V166A |
possibly damaging |
Het |
| Cramp1l |
G |
T |
17: 24,972,349 (GRCm38) |
T1046K |
probably benign |
Het |
| Cthrc1 |
T |
G |
15: 39,086,677 (GRCm38) |
V143G |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,538,564 (GRCm38) |
Q552* |
probably null |
Het |
| Cyp27b1 |
A |
T |
10: 127,051,088 (GRCm38) |
D391V |
probably damaging |
Het |
| Dcun1d2 |
A |
G |
8: 13,281,040 (GRCm38) |
L30S |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 19,987,034 (GRCm38) |
E189G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,154,594 (GRCm38) |
S295A |
probably damaging |
Het |
| Dusp22 |
A |
G |
13: 30,708,815 (GRCm38) |
T192A |
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,038,285 (GRCm38) |
M1L |
probably null |
Het |
| Evc2 |
G |
A |
5: 37,393,197 (GRCm38) |
|
probably null |
Het |
| Fgd6 |
A |
G |
10: 94,044,832 (GRCm38) |
N516S |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,596,369 (GRCm38) |
Y1144H |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,448,674 (GRCm38) |
I346K |
possibly damaging |
Het |
| Gata3 |
A |
C |
2: 9,877,390 (GRCm38) |
V32G |
probably damaging |
Het |
| Glrb |
A |
T |
3: 80,911,975 (GRCm38) |
C39S |
possibly damaging |
Het |
| Gm16432 |
C |
T |
1: 178,015,929 (GRCm38) |
T69I |
possibly damaging |
Het |
| Gpr171 |
A |
G |
3: 59,097,595 (GRCm38) |
V253A |
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,201,253 (GRCm38) |
V670A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,133,908 (GRCm38) |
S1085G |
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,786,794 (GRCm38) |
N746S |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,877,903 (GRCm38) |
T333A |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,461,593 (GRCm38) |
V484A |
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 25,829,292 (GRCm38) |
T33S |
possibly damaging |
Het |
| Kctd19 |
T |
A |
8: 105,387,062 (GRCm38) |
I660L |
possibly damaging |
Het |
| Lrat |
A |
G |
3: 82,903,342 (GRCm38) |
V124A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,666,524 (GRCm38) |
I281V |
probably benign |
Het |
| Mast2 |
T |
A |
4: 116,316,491 (GRCm38) |
I455F |
possibly damaging |
Het |
| Myo15b |
C |
A |
11: 115,886,857 (GRCm38) |
|
probably null |
Het |
| Ncam1 |
T |
C |
9: 49,505,549 (GRCm38) |
E814G |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 166,055,262 (GRCm38) |
T658A |
probably benign |
Het |
| Olfr459 |
T |
C |
6: 41,771,522 (GRCm38) |
Y259C |
possibly damaging |
Het |
| Olfr53 |
T |
G |
7: 140,652,737 (GRCm38) |
Y253D |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,209,518 (GRCm38) |
K280E |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 20,934,824 (GRCm38) |
F67L |
probably benign |
Het |
| Pfkfb3 |
G |
T |
2: 11,493,936 (GRCm38) |
R37S |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,941,479 (GRCm38) |
D310G |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 85,875,657 (GRCm38) |
S26G |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,028,408 (GRCm38) |
I1684F |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,606,584 (GRCm38) |
V621A |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,511,472 (GRCm38) |
N82S |
probably damaging |
Het |
| Pomgnt2 |
A |
G |
9: 121,982,260 (GRCm38) |
V485A |
probably damaging |
Het |
| Psmd9 |
A |
G |
5: 123,228,347 (GRCm38) |
E14G |
probably benign |
Het |
| Pwwp2b |
A |
G |
7: 139,255,963 (GRCm38) |
E440G |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,282,619 (GRCm38) |
Q771* |
probably null |
Het |
| Rft1 |
C |
T |
14: 30,666,787 (GRCm38) |
Q223* |
probably null |
Het |
| Rgs22 |
C |
A |
15: 36,092,901 (GRCm38) |
V409F |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,825,926 (GRCm38) |
P261S |
possibly damaging |
Het |
| Rpl7a |
A |
G |
2: 26,911,115 (GRCm38) |
N38S |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,053,939 (GRCm38) |
F41Y |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,746,191 (GRCm38) |
S34R |
probably damaging |
Het |
| Sult2a3 |
A |
T |
7: 14,122,942 (GRCm38) |
Y18N |
probably benign |
Het |
| Tapt1 |
A |
G |
5: 44,218,102 (GRCm38) |
|
probably null |
Het |
| Tex2 |
A |
T |
11: 106,503,640 (GRCm38) |
C615S |
possibly damaging |
Het |
| Trim43b |
T |
C |
9: 89,087,612 (GRCm38) |
K261R |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,789,822 (GRCm38) |
M484K |
probably damaging |
Het |
| Vezf1 |
T |
A |
11: 88,073,747 (GRCm38) |
S242T |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 64,089,613 (GRCm38) |
Y230C |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,257,703 (GRCm38) |
S149P |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 119,666,666 (GRCm38) |
|
probably null |
Het |
| Zfp975 |
T |
C |
7: 42,662,812 (GRCm38) |
T126A |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,882,312 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Mroh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Mroh7
|
APN |
4 |
106,703,161 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01729:Mroh7
|
APN |
4 |
106,704,205 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01834:Mroh7
|
APN |
4 |
106,680,874 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02003:Mroh7
|
APN |
4 |
106,702,529 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02135:Mroh7
|
APN |
4 |
106,702,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02335:Mroh7
|
APN |
4 |
106,707,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02532:Mroh7
|
APN |
4 |
106,720,591 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02896:Mroh7
|
APN |
4 |
106,699,816 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03066:Mroh7
|
APN |
4 |
106,692,398 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL03298:Mroh7
|
APN |
4 |
106,714,091 (GRCm38) |
nonsense |
probably null |
|
|
holy
|
UTSW |
4 |
106,709,955 (GRCm38) |
splice site |
probably null |
|
|
moley
|
UTSW |
4 |
106,694,312 (GRCm38) |
splice site |
probably null |
|
|
P0016:Mroh7
|
UTSW |
4 |
106,707,857 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0019:Mroh7
|
UTSW |
4 |
106,721,426 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0094:Mroh7
|
UTSW |
4 |
106,703,184 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0105:Mroh7
|
UTSW |
4 |
106,711,270 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0105:Mroh7
|
UTSW |
4 |
106,711,270 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0515:Mroh7
|
UTSW |
4 |
106,691,664 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0828:Mroh7
|
UTSW |
4 |
106,699,876 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0831:Mroh7
|
UTSW |
4 |
106,680,793 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1107:Mroh7
|
UTSW |
4 |
106,707,594 (GRCm38) |
splice site |
probably null |
|
|
R1301:Mroh7
|
UTSW |
4 |
106,720,495 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1456:Mroh7
|
UTSW |
4 |
106,695,141 (GRCm38) |
splice site |
probably benign |
|
|
R1540:Mroh7
|
UTSW |
4 |
106,703,076 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1560:Mroh7
|
UTSW |
4 |
106,711,254 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1645:Mroh7
|
UTSW |
4 |
106,720,668 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1804:Mroh7
|
UTSW |
4 |
106,694,392 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2162:Mroh7
|
UTSW |
4 |
106,700,181 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2265:Mroh7
|
UTSW |
4 |
106,720,927 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2866:Mroh7
|
UTSW |
4 |
106,691,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3716:Mroh7
|
UTSW |
4 |
106,704,210 (GRCm38) |
missense |
probably benign |
0.25 |
|
R3718:Mroh7
|
UTSW |
4 |
106,704,210 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4530:Mroh7
|
UTSW |
4 |
106,720,437 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4661:Mroh7
|
UTSW |
4 |
106,691,513 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4706:Mroh7
|
UTSW |
4 |
106,691,624 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4910:Mroh7
|
UTSW |
4 |
106,709,955 (GRCm38) |
splice site |
probably null |
|
|
R4965:Mroh7
|
UTSW |
4 |
106,690,987 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4969:Mroh7
|
UTSW |
4 |
106,680,873 (GRCm38) |
missense |
probably benign |
|
|
R4971:Mroh7
|
UTSW |
4 |
106,691,552 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5083:Mroh7
|
UTSW |
4 |
106,690,318 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5207:Mroh7
|
UTSW |
4 |
106,721,386 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5364:Mroh7
|
UTSW |
4 |
106,691,643 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5392:Mroh7
|
UTSW |
4 |
106,711,251 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5630:Mroh7
|
UTSW |
4 |
106,720,567 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5691:Mroh7
|
UTSW |
4 |
106,702,618 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5703:Mroh7
|
UTSW |
4 |
106,708,560 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5707:Mroh7
|
UTSW |
4 |
106,681,885 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5919:Mroh7
|
UTSW |
4 |
106,694,312 (GRCm38) |
splice site |
probably null |
|
|
R5979:Mroh7
|
UTSW |
4 |
106,720,926 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6479:Mroh7
|
UTSW |
4 |
106,703,188 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6520:Mroh7
|
UTSW |
4 |
106,721,263 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6657:Mroh7
|
UTSW |
4 |
106,702,500 (GRCm38) |
nonsense |
probably null |
|
|
R6732:Mroh7
|
UTSW |
4 |
106,680,713 (GRCm38) |
frame shift |
probably null |
|
|
R6817:Mroh7
|
UTSW |
4 |
106,714,115 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6980:Mroh7
|
UTSW |
4 |
106,700,237 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7062:Mroh7
|
UTSW |
4 |
106,683,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7116:Mroh7
|
UTSW |
4 |
106,711,320 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7134:Mroh7
|
UTSW |
4 |
106,720,594 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7169:Mroh7
|
UTSW |
4 |
106,691,639 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7419:Mroh7
|
UTSW |
4 |
106,683,918 (GRCm38) |
missense |
probably benign |
|
|
R7516:Mroh7
|
UTSW |
4 |
106,691,119 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7525:Mroh7
|
UTSW |
4 |
106,709,702 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7540:Mroh7
|
UTSW |
4 |
106,720,398 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7849:Mroh7
|
UTSW |
4 |
106,721,090 (GRCm38) |
missense |
probably benign |
|
|
R7920:Mroh7
|
UTSW |
4 |
106,707,576 (GRCm38) |
missense |
probably benign |
|
|
R7998:Mroh7
|
UTSW |
4 |
106,711,281 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8026:Mroh7
|
UTSW |
4 |
106,721,437 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8122:Mroh7
|
UTSW |
4 |
106,702,529 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8249:Mroh7
|
UTSW |
4 |
106,721,212 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9188:Mroh7
|
UTSW |
4 |
106,709,592 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTACATATGCCTTCCTAGCCCAC -3'
(R):5'- CATAATCTTCAGCCTCCCAGGCAG -3'
Sequencing Primer
(F):5'- GCCCACTGCTCAGTTCCAG -3'
(R):5'- GGGAATCTGCCCTACATGACAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation