Incidental Mutation 'R9253:Marf1'
| ID |
701684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marf1
|
| Ensembl Gene |
ENSMUSG00000060657 |
| Gene Name |
meiosis regulator and mRNA stability 1 |
| Synonyms |
4921513D23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R9253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13935172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1532
(E1532G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090300]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090300
AA Change: E1532G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: E1532G
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,860 (GRCm39) |
I229F |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,467,172 (GRCm39) |
H913R |
possibly damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,965,315 (GRCm39) |
S399C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,124,779 (GRCm39) |
G501D |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,468,551 (GRCm39) |
T6N |
unknown |
Het |
| Asb18 |
C |
T |
1: 89,882,185 (GRCm39) |
V382I |
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,987,220 (GRCm39) |
I291T |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,759,176 (GRCm39) |
|
silent |
Het |
| Bcl7c |
T |
C |
7: 127,306,403 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,711,083 (GRCm39) |
N375S |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,764,679 (GRCm39) |
Q125R |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,212,759 (GRCm39) |
S108P |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,100,608 (GRCm39) |
T21N |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,978,112 (GRCm39) |
L256F |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,981,503 (GRCm39) |
T29I |
probably benign |
Het |
| Coq4 |
A |
T |
2: 29,685,433 (GRCm39) |
D149V |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,769,698 (GRCm39) |
L91S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,397 (GRCm39) |
D559V |
probably damaging |
Het |
| Gm4779 |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
X: 100,836,917 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,407 (GRCm39) |
V12E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,378 (GRCm39) |
S146P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,423 (GRCm39) |
V236A |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,710 (GRCm39) |
S323P |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,796,645 (GRCm39) |
C215Y |
probably damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,789,632 (GRCm39) |
A57S |
probably benign |
Het |
| Lilrb4b |
G |
A |
10: 51,357,863 (GRCm39) |
V186I |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,823 (GRCm39) |
V1213A |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,279,264 (GRCm39) |
Y174C |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,239 (GRCm39) |
V178E |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,074,359 (GRCm39) |
I174F |
|
Het |
| Ndufv1 |
G |
T |
19: 4,059,412 (GRCm39) |
A211E |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,229,144 (GRCm39) |
V874A |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,804,142 (GRCm39) |
G197S |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,983,637 (GRCm39) |
H241L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,822 (GRCm39) |
M246T |
probably damaging |
Het |
| Pacs2 |
A |
G |
12: 113,014,137 (GRCm39) |
D196G |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,351,012 (GRCm39) |
D118G |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,529 (GRCm39) |
|
probably benign |
Het |
| Pgk2 |
C |
T |
17: 40,519,233 (GRCm39) |
G65D |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,970,460 (GRCm39) |
D193G |
probably benign |
Het |
| Plcl2 |
T |
G |
17: 50,915,127 (GRCm39) |
M712R |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,522 (GRCm39) |
Q36* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,052,015 (GRCm39) |
V68A |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,493,224 (GRCm39) |
I1069V |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,111,973 (GRCm39) |
T200A |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,621 (GRCm39) |
V3D |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,855,205 (GRCm39) |
M293T |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,680,913 (GRCm39) |
R72G |
probably benign |
Het |
| Smarca5 |
A |
C |
8: 81,446,344 (GRCm39) |
L452W |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,416,377 (GRCm39) |
K952E |
probably damaging |
Het |
| Synpo2l |
G |
T |
14: 20,716,738 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,803 (GRCm39) |
E9G |
possibly damaging |
Het |
| Tmem270 |
T |
C |
5: 134,930,644 (GRCm39) |
T206A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,562,951 (GRCm39) |
T28668S |
possibly damaging |
Het |
| Vmn1r118 |
A |
T |
7: 20,645,817 (GRCm39) |
S152R |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,960 (GRCm39) |
Q207L |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,582 (GRCm39) |
S824R |
probably damaging |
Het |
| Vps54 |
G |
A |
11: 21,258,771 (GRCm39) |
V733I |
probably benign |
Het |
| Zfp518b |
G |
T |
5: 38,829,601 (GRCm39) |
D801E |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,392,428 (GRCm39) |
P1316Q |
probably damaging |
Het |
| Zzef1 |
C |
A |
11: 72,739,463 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GGCCTGAAACTAACTTACTTGGC -3'
(R):5'- CTTCTGGGCCAGGTTTGTAC -3'
Sequencing Primer
(F):5'- TGAAACTAACTTACTTGGCACACAGG -3'
(R):5'- GGCCAGGTTTGTACGAACG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation