Incidental Mutation 'R7807:Marf1'
ID |
600893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
045862-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R7807 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 13971753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 28
(W28*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090300]
[ENSMUST00000229614]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000090300
AA Change: W28*
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: W28*
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
low complexity region
|
290 |
305 |
N/A |
INTRINSIC |
Pfam:NYN
|
351 |
492 |
1.5e-21 |
PFAM |
RRM
|
511 |
579 |
3.17e-1 |
SMART |
low complexity region
|
599 |
610 |
N/A |
INTRINSIC |
RRM
|
790 |
864 |
4.47e-3 |
SMART |
internal_repeat_2
|
871 |
914 |
1.57e-5 |
PROSPERO |
low complexity region
|
944 |
960 |
N/A |
INTRINSIC |
Pfam:OST-HTH
|
1096 |
1167 |
1e-11 |
PFAM |
low complexity region
|
1181 |
1186 |
N/A |
INTRINSIC |
Pfam:OST-HTH
|
1256 |
1328 |
1.2e-10 |
PFAM |
Pfam:OST-HTH
|
1332 |
1404 |
2.4e-10 |
PFAM |
Pfam:OST-HTH
|
1408 |
1480 |
6.8e-13 |
PFAM |
Pfam:OST-HTH
|
1483 |
1555 |
3e-14 |
PFAM |
low complexity region
|
1682 |
1701 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229614
AA Change: W28*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010] PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit female infertility with abnormalities in oogenic processes including meiotic progression, genomic integrity and acquisition of developmental competence. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
C |
A |
9: 21,447,276 (GRCm39) |
T146K |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,599,958 (GRCm39) |
S1595T |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,831,635 (GRCm39) |
I56N |
probably damaging |
Het |
Anln |
C |
A |
9: 22,272,176 (GRCm39) |
V648F |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,807,981 (GRCm39) |
D1053G |
probably benign |
Het |
Baalc |
T |
C |
15: 38,797,412 (GRCm39) |
S68P |
probably benign |
Het |
Begain |
T |
C |
12: 109,004,856 (GRCm39) |
D52G |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,837,040 (GRCm39) |
I41V |
probably benign |
Het |
Bpifc |
T |
A |
10: 85,812,114 (GRCm39) |
I365F |
possibly damaging |
Het |
C2 |
G |
T |
17: 35,095,347 (GRCm39) |
S199R |
possibly damaging |
Het |
Ccbe1 |
T |
A |
18: 66,199,828 (GRCm39) |
H298L |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,423,826 (GRCm39) |
K304I |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,226,678 (GRCm39) |
E432G |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,010,594 (GRCm39) |
M1K |
probably null |
Het |
Cipc |
T |
C |
12: 87,008,899 (GRCm39) |
S253P |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,287,282 (GRCm39) |
|
probably null |
Het |
Clock |
A |
T |
5: 76,390,982 (GRCm39) |
N273K |
probably benign |
Het |
Cyp19a1 |
T |
C |
9: 54,074,126 (GRCm39) |
D476G |
probably benign |
Het |
Dnaaf9 |
T |
C |
2: 130,552,785 (GRCm39) |
K1092E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,253,527 (GRCm39) |
I1811V |
probably benign |
Het |
Fat1 |
C |
A |
8: 45,495,010 (GRCm39) |
T4091K |
probably damaging |
Het |
Gm10340 |
T |
A |
14: 14,826,724 (GRCm39) |
N64K |
probably damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,171 (GRCm39) |
R2523C |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,782,009 (GRCm39) |
H244R |
probably damaging |
Het |
Hgs |
G |
T |
11: 120,370,760 (GRCm39) |
A567S |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,041,077 (GRCm39) |
V1036A |
probably benign |
Het |
Keg1 |
G |
A |
19: 12,691,998 (GRCm39) |
|
probably null |
Het |
Klhl8 |
A |
T |
5: 104,023,932 (GRCm39) |
L156Q |
probably damaging |
Het |
Lmln |
T |
C |
16: 32,927,501 (GRCm39) |
Y521H |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,124 (GRCm39) |
S1206P |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,074,541 (GRCm39) |
I550F |
probably benign |
Het |
Mfsd11 |
T |
G |
11: 116,754,733 (GRCm39) |
S215A |
probably benign |
Het |
Mpped2 |
C |
A |
2: 106,575,085 (GRCm39) |
H57N |
possibly damaging |
Het |
Mslnl |
A |
G |
17: 25,965,751 (GRCm39) |
M542V |
probably benign |
Het |
Myh6 |
G |
T |
14: 55,179,897 (GRCm39) |
H1903Q |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,897,777 (GRCm39) |
T60A |
probably benign |
Het |
Npm2 |
T |
A |
14: 70,889,947 (GRCm39) |
|
probably null |
Het |
Or5b123 |
C |
A |
19: 13,597,285 (GRCm39) |
T210K |
probably damaging |
Het |
Or5d20-ps1 |
T |
C |
2: 87,931,909 (GRCm39) |
S141G |
probably benign |
Het |
Or7a39 |
T |
A |
10: 78,715,043 (GRCm39) |
S12R |
probably benign |
Het |
Pax9 |
A |
T |
12: 56,743,850 (GRCm39) |
I166F |
possibly damaging |
Het |
Pcsk9 |
A |
G |
4: 106,321,092 (GRCm39) |
S6P |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,309,101 (GRCm39) |
Y1893C |
probably damaging |
Het |
Pirb |
T |
C |
7: 3,722,864 (GRCm39) |
T43A |
possibly damaging |
Het |
Pou3f1 |
A |
G |
4: 124,552,074 (GRCm39) |
D192G |
possibly damaging |
Het |
Pus3 |
C |
G |
9: 35,478,021 (GRCm39) |
R418G |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,385,970 (GRCm39) |
V363I |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,393,688 (GRCm39) |
T269A |
probably damaging |
Het |
Sele |
T |
C |
1: 163,881,462 (GRCm39) |
V523A |
probably benign |
Het |
Serpinb8 |
T |
A |
1: 107,532,457 (GRCm39) |
M183K |
probably damaging |
Het |
Sh2d4a |
T |
G |
8: 68,735,033 (GRCm39) |
S51A |
probably benign |
Het |
Siglec15 |
A |
G |
18: 78,090,696 (GRCm39) |
S201P |
probably damaging |
Het |
Slc10a5 |
C |
T |
3: 10,400,529 (GRCm39) |
V44I |
probably benign |
Het |
Slc16a13 |
A |
G |
11: 70,111,388 (GRCm39) |
V39A |
probably damaging |
Het |
Slc25a13 |
G |
A |
6: 6,117,164 (GRCm39) |
R184W |
probably damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,278 (GRCm39) |
D359E |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,371,371 (GRCm39) |
E641G |
probably benign |
Het |
Slf1 |
T |
C |
13: 77,194,823 (GRCm39) |
D834G |
probably damaging |
Het |
Spata31f1e |
A |
C |
4: 42,793,885 (GRCm39) |
H82Q |
probably benign |
Het |
Stim1 |
T |
C |
7: 102,076,348 (GRCm39) |
I433T |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,057,444 (GRCm39) |
I418K |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,758,480 (GRCm39) |
N747S |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,192,302 (GRCm39) |
T711A |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,807,220 (GRCm39) |
I988T |
probably benign |
Het |
Ttc41 |
T |
A |
10: 86,612,495 (GRCm39) |
I1256N |
probably benign |
Het |
Uba2 |
T |
C |
7: 33,862,638 (GRCm39) |
D100G |
possibly damaging |
Het |
Vmn1r43 |
A |
G |
6: 89,847,219 (GRCm39) |
I89T |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,521,910 (GRCm39) |
Y62F |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,060,855 (GRCm39) |
Q428* |
probably null |
Het |
Zcrb1 |
T |
C |
15: 93,289,002 (GRCm39) |
D88G |
probably damaging |
Het |
Zmym1 |
A |
C |
4: 126,941,667 (GRCm39) |
I907S |
probably damaging |
Het |
|
Other mutations in Marf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00517:Marf1
|
APN |
16 |
13,933,606 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL00933:Marf1
|
APN |
16 |
13,935,221 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01101:Marf1
|
APN |
16 |
13,964,600 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02140:Marf1
|
APN |
16 |
13,959,776 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03196:Marf1
|
APN |
16 |
13,958,123 (GRCm39) |
missense |
possibly damaging |
0.64 |
PIT4283001:Marf1
|
UTSW |
16 |
13,946,432 (GRCm39) |
missense |
probably benign |
0.22 |
R0016:Marf1
|
UTSW |
16 |
13,970,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R0016:Marf1
|
UTSW |
16 |
13,970,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R0046:Marf1
|
UTSW |
16 |
13,929,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0046:Marf1
|
UTSW |
16 |
13,929,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0056:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0057:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0113:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0179:Marf1
|
UTSW |
16 |
13,969,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Marf1
|
UTSW |
16 |
13,969,147 (GRCm39) |
missense |
probably benign |
0.00 |
R0238:Marf1
|
UTSW |
16 |
13,969,147 (GRCm39) |
missense |
probably benign |
0.00 |
R0294:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0316:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0318:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0375:Marf1
|
UTSW |
16 |
13,969,184 (GRCm39) |
splice site |
probably benign |
|
R0383:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0391:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0589:Marf1
|
UTSW |
16 |
13,959,919 (GRCm39) |
splice site |
probably benign |
|
R0603:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Marf1
|
UTSW |
16 |
13,960,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Marf1
|
UTSW |
16 |
13,964,626 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1445:Marf1
|
UTSW |
16 |
13,933,688 (GRCm39) |
missense |
probably benign |
|
R1716:Marf1
|
UTSW |
16 |
13,960,450 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1921:Marf1
|
UTSW |
16 |
13,946,465 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2098:Marf1
|
UTSW |
16 |
13,932,064 (GRCm39) |
missense |
probably benign |
0.00 |
R2155:Marf1
|
UTSW |
16 |
13,950,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R2177:Marf1
|
UTSW |
16 |
13,970,471 (GRCm39) |
missense |
probably benign |
0.01 |
R2195:Marf1
|
UTSW |
16 |
13,929,563 (GRCm39) |
missense |
probably benign |
|
R2410:Marf1
|
UTSW |
16 |
13,933,691 (GRCm39) |
missense |
probably benign |
0.02 |
R2999:Marf1
|
UTSW |
16 |
13,960,505 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3000:Marf1
|
UTSW |
16 |
13,960,505 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3147:Marf1
|
UTSW |
16 |
13,943,843 (GRCm39) |
missense |
possibly damaging |
0.64 |
R3148:Marf1
|
UTSW |
16 |
13,943,843 (GRCm39) |
missense |
possibly damaging |
0.64 |
R3430:Marf1
|
UTSW |
16 |
13,958,041 (GRCm39) |
unclassified |
probably benign |
|
R3821:Marf1
|
UTSW |
16 |
13,960,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R4383:Marf1
|
UTSW |
16 |
13,960,505 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4384:Marf1
|
UTSW |
16 |
13,960,505 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4520:Marf1
|
UTSW |
16 |
13,950,530 (GRCm39) |
missense |
probably damaging |
0.98 |
R4554:Marf1
|
UTSW |
16 |
13,971,841 (GRCm39) |
start gained |
probably benign |
|
R4557:Marf1
|
UTSW |
16 |
13,971,841 (GRCm39) |
start gained |
probably benign |
|
R4768:Marf1
|
UTSW |
16 |
13,949,461 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4784:Marf1
|
UTSW |
16 |
13,970,321 (GRCm39) |
missense |
probably benign |
|
R4857:Marf1
|
UTSW |
16 |
13,946,475 (GRCm39) |
nonsense |
probably null |
|
R4863:Marf1
|
UTSW |
16 |
13,950,529 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4994:Marf1
|
UTSW |
16 |
13,932,095 (GRCm39) |
missense |
probably benign |
|
R5191:Marf1
|
UTSW |
16 |
13,963,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Marf1
|
UTSW |
16 |
13,970,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R5813:Marf1
|
UTSW |
16 |
13,970,449 (GRCm39) |
missense |
probably benign |
0.35 |
R5905:Marf1
|
UTSW |
16 |
13,945,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R5960:Marf1
|
UTSW |
16 |
13,970,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R6104:Marf1
|
UTSW |
16 |
13,935,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R6387:Marf1
|
UTSW |
16 |
13,959,504 (GRCm39) |
makesense |
probably null |
|
R6533:Marf1
|
UTSW |
16 |
13,933,663 (GRCm39) |
missense |
probably benign |
0.16 |
R6608:Marf1
|
UTSW |
16 |
13,950,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R6642:Marf1
|
UTSW |
16 |
13,950,611 (GRCm39) |
missense |
probably benign |
0.02 |
R6954:Marf1
|
UTSW |
16 |
13,956,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Marf1
|
UTSW |
16 |
13,946,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R7010:Marf1
|
UTSW |
16 |
13,954,865 (GRCm39) |
missense |
probably damaging |
0.99 |
R7090:Marf1
|
UTSW |
16 |
13,929,566 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7174:Marf1
|
UTSW |
16 |
13,954,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R7221:Marf1
|
UTSW |
16 |
13,960,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7247:Marf1
|
UTSW |
16 |
13,944,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R7557:Marf1
|
UTSW |
16 |
13,950,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7798:Marf1
|
UTSW |
16 |
13,956,315 (GRCm39) |
missense |
probably benign |
0.00 |
R7855:Marf1
|
UTSW |
16 |
13,932,065 (GRCm39) |
missense |
probably benign |
0.27 |
R7867:Marf1
|
UTSW |
16 |
13,946,470 (GRCm39) |
missense |
probably damaging |
0.97 |
R7893:Marf1
|
UTSW |
16 |
13,964,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R8291:Marf1
|
UTSW |
16 |
13,950,432 (GRCm39) |
critical splice donor site |
probably null |
|
R8746:Marf1
|
UTSW |
16 |
13,935,168 (GRCm39) |
missense |
probably benign |
0.18 |
R8842:Marf1
|
UTSW |
16 |
13,935,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Marf1
|
UTSW |
16 |
13,935,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9350:Marf1
|
UTSW |
16 |
13,963,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R9440:Marf1
|
UTSW |
16 |
13,938,196 (GRCm39) |
missense |
probably benign |
0.01 |
R9460:Marf1
|
UTSW |
16 |
13,947,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:Marf1
|
UTSW |
16 |
13,958,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R9698:Marf1
|
UTSW |
16 |
13,967,077 (GRCm39) |
missense |
probably benign |
0.00 |
U24488:Marf1
|
UTSW |
16 |
13,950,230 (GRCm39) |
nonsense |
probably null |
|
X0025:Marf1
|
UTSW |
16 |
13,932,142 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Marf1
|
UTSW |
16 |
13,933,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTTGAGCAAGCGTGTTC -3'
(R):5'- GAGCTGTTGCACCATGAAC -3'
Sequencing Primer
(F):5'- AGCAAGCGTGTTCTTATTGAGTGC -3'
(R):5'- TGGGTACTTGTGCAAAGAAGTAAC -3'
|
Posted On |
2019-11-26 |