Incidental Mutation 'R7090:Marf1'
ID |
550177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
045184-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R7090 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 13929566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 1680
(C1680F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090300]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090300
AA Change: C1680F
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: C1680F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Calm3 |
A |
T |
7: 16,651,004 (GRCm39) |
Y139* |
probably null |
Het |
Ccdc27 |
T |
C |
4: 154,112,523 (GRCm39) |
N584S |
probably benign |
Het |
Cdh24 |
C |
G |
14: 54,876,964 (GRCm39) |
G13A |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,452,677 (GRCm39) |
K1281E |
probably damaging |
Het |
Clasp1 |
G |
T |
1: 118,409,816 (GRCm39) |
G4C |
probably benign |
Het |
Cul9 |
G |
T |
17: 46,811,765 (GRCm39) |
P2488T |
probably damaging |
Het |
Daam2 |
A |
G |
17: 49,789,973 (GRCm39) |
V428A |
probably damaging |
Het |
Dcaf8 |
A |
G |
1: 172,016,535 (GRCm39) |
S441G |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,255,581 (GRCm39) |
T2426A |
probably benign |
Het |
Dnai3 |
C |
A |
3: 145,746,582 (GRCm39) |
K881N |
possibly damaging |
Het |
Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
Exoc1 |
T |
C |
5: 76,714,800 (GRCm39) |
S120P |
unknown |
Het |
Fyco1 |
A |
G |
9: 123,626,784 (GRCm39) |
L1309S |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,201,114 (GRCm39) |
N111S |
possibly damaging |
Het |
Gm5901 |
A |
G |
7: 105,026,555 (GRCm39) |
T108A |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
Kcnk15 |
T |
C |
2: 163,700,637 (GRCm39) |
V292A |
probably benign |
Het |
Kdm2a |
A |
T |
19: 4,369,169 (GRCm39) |
Y1149N |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,572,529 (GRCm39) |
T1011A |
possibly damaging |
Het |
Krt35 |
A |
T |
11: 99,986,498 (GRCm39) |
|
probably null |
Het |
Lipn |
T |
A |
19: 34,049,180 (GRCm39) |
D115E |
possibly damaging |
Het |
Lpin3 |
T |
G |
2: 160,738,672 (GRCm39) |
L208R |
probably damaging |
Het |
Ltf |
C |
A |
9: 110,855,048 (GRCm39) |
Q354K |
probably benign |
Het |
Mtss2 |
T |
A |
8: 111,456,656 (GRCm39) |
V242E |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,131,765 (GRCm39) |
Y477C |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,981,350 (GRCm39) |
S481T |
probably benign |
Het |
Ncoa2 |
A |
G |
1: 13,257,062 (GRCm39) |
Y146H |
probably damaging |
Het |
Ntng1 |
A |
T |
3: 109,842,496 (GRCm39) |
C92* |
probably null |
Het |
Or10ad1b |
C |
T |
15: 98,125,083 (GRCm39) |
V150I |
probably benign |
Het |
Or2n1b |
G |
A |
17: 38,460,385 (GRCm39) |
G302D |
probably benign |
Het |
Or8k18 |
T |
A |
2: 86,085,420 (GRCm39) |
N206Y |
probably damaging |
Het |
Or8k31-ps1 |
T |
C |
2: 86,356,471 (GRCm39) |
I17V |
probably benign |
Het |
Os9 |
A |
T |
10: 126,935,547 (GRCm39) |
S308T |
probably benign |
Het |
Otx2 |
T |
A |
14: 48,896,192 (GRCm39) |
T289S |
probably benign |
Het |
Pakap |
C |
T |
4: 57,648,042 (GRCm39) |
A60V |
probably benign |
Het |
Pigg |
A |
G |
5: 108,484,378 (GRCm39) |
T675A |
possibly damaging |
Het |
Pink1 |
C |
T |
4: 138,042,912 (GRCm39) |
E461K |
probably damaging |
Het |
Pip5k1a |
A |
G |
3: 94,967,809 (GRCm39) |
S543P |
possibly damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,611 (GRCm39) |
T454A |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rab31 |
C |
T |
17: 66,005,012 (GRCm39) |
V83I |
possibly damaging |
Het |
Rabggtb |
G |
T |
3: 153,615,986 (GRCm39) |
D117E |
probably benign |
Het |
Rbl1 |
T |
C |
2: 156,994,820 (GRCm39) |
H951R |
probably benign |
Het |
Sapcd2 |
A |
G |
2: 25,266,091 (GRCm39) |
S314G |
probably benign |
Het |
Septin4 |
T |
C |
11: 87,475,264 (GRCm39) |
L164P |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,356,760 (GRCm39) |
E541G |
probably damaging |
Het |
Slc26a7 |
C |
A |
4: 14,565,460 (GRCm39) |
G208* |
probably null |
Het |
Smco2 |
A |
G |
6: 146,772,711 (GRCm39) |
I304M |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,818,491 (GRCm39) |
|
probably null |
Het |
Spocd1 |
T |
C |
4: 129,847,691 (GRCm39) |
F552L |
|
Het |
St6galnac2 |
T |
C |
11: 116,568,461 (GRCm39) |
D334G |
probably damaging |
Het |
Sub1 |
A |
G |
15: 11,986,572 (GRCm39) |
S92P |
probably benign |
Het |
Syne2 |
T |
C |
12: 75,989,125 (GRCm39) |
F1829L |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,839,833 (GRCm39) |
V631A |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,958,904 (GRCm39) |
S113P |
probably benign |
Het |
Tgfbrap1 |
A |
C |
1: 43,110,725 (GRCm39) |
V260G |
probably damaging |
Het |
Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
Urb2 |
T |
C |
8: 124,757,338 (GRCm39) |
V1015A |
probably benign |
Het |
Usp5 |
A |
G |
6: 124,806,357 (GRCm39) |
M1T |
probably null |
Het |
Utrn |
T |
C |
10: 12,560,260 (GRCm39) |
D1343G |
possibly damaging |
Het |
Vmn2r56 |
T |
C |
7: 12,449,254 (GRCm39) |
Y328C |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,613,972 (GRCm39) |
E564V |
possibly damaging |
Het |
Zc3h8 |
T |
C |
2: 128,777,241 (GRCm39) |
T133A |
possibly 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 |
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 |
R7807:Marf1
|
UTSW |
16 |
13,971,753 (GRCm39) |
nonsense |
probably null |
|
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'- AGCTTGGTTACAGGTGCAAAAG -3'
(R):5'- CCTAACTGTGGTTTAAGTGTGACC -3'
Sequencing Primer
(F):5'- GAAAAGTTGGCTGCCAATTTGACTC -3'
(R):5'- TTGACCAGGCTGGCCTTAAAC -3'
|
Posted On |
2019-05-15 |