Incidental Mutation 'R7247:Marf1'
| ID |
563639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marf1
|
| Ensembl Gene |
ENSMUSG00000060657 |
| Gene Name |
meiosis regulator and mRNA stability 1 |
| Synonyms |
4921513D23Rik |
| MMRRC Submission |
045310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R7247 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13944957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1304
(L1304Q)
|
| 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: L1304Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: L1304Q
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,732 (GRCm39) |
E865G |
probably benign |
Het |
| Actrt2 |
A |
C |
4: 154,751,880 (GRCm39) |
D85E |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,472,787 (GRCm39) |
E153G |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,501,139 (GRCm39) |
H1037L |
probably benign |
Het |
| Camk2a |
A |
G |
18: 61,076,277 (GRCm39) |
Y85C |
unknown |
Het |
| Caprin1 |
A |
T |
2: 103,609,819 (GRCm39) |
V153E |
possibly damaging |
Het |
| Caskin2 |
G |
A |
11: 115,692,722 (GRCm39) |
P688S |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,957,555 (GRCm39) |
T535A |
possibly damaging |
Het |
| Cdh9 |
G |
A |
15: 16,778,341 (GRCm39) |
R52H |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,255,666 (GRCm39) |
L406S |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,786,499 (GRCm39) |
M1449T |
probably damaging |
Het |
| Chst8 |
T |
A |
7: 34,375,361 (GRCm39) |
K159N |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,286,374 (GRCm39) |
H136R |
probably benign |
Het |
| Dip2a |
C |
T |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Dock2 |
G |
A |
11: 34,605,340 (GRCm39) |
R260* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,622,008 (GRCm39) |
V481A |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,690,502 (GRCm39) |
D112G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,510,708 (GRCm39) |
K634E |
probably damaging |
Het |
| Fcgr2b |
A |
G |
1: 170,793,269 (GRCm39) |
|
probably null |
Het |
| Fgfrl1 |
T |
C |
5: 108,851,365 (GRCm39) |
V94A |
possibly damaging |
Het |
| Gpr156 |
C |
A |
16: 37,768,103 (GRCm39) |
N6K |
probably damaging |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,183 (GRCm39) |
F177I |
probably benign |
Het |
| Igkv4-54 |
T |
A |
6: 69,608,842 (GRCm39) |
S26C |
probably damaging |
Het |
| Iglc3 |
T |
C |
16: 18,884,191 (GRCm39) |
H80R |
|
Het |
| Immp1l |
G |
A |
2: 105,767,401 (GRCm39) |
G87S |
probably damaging |
Het |
| Itgav |
A |
T |
2: 83,555,179 (GRCm39) |
D34V |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,159,224 (GRCm39) |
T1686I |
|
Het |
| Ltn1 |
T |
C |
16: 87,206,275 (GRCm39) |
D935G |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,036 (GRCm39) |
D352G |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,772,604 (GRCm39) |
K610E |
possibly damaging |
Het |
| Marchf4 |
G |
T |
1: 72,491,637 (GRCm39) |
Y211* |
probably null |
Het |
| Matcap1 |
A |
T |
8: 106,011,331 (GRCm39) |
Y268N |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,194,505 (GRCm39) |
V5A |
unknown |
Het |
| Mep1a |
A |
T |
17: 43,785,995 (GRCm39) |
V711D |
possibly damaging |
Het |
| Naca |
T |
A |
10: 127,878,467 (GRCm39) |
D1166E |
unknown |
Het |
| Neb |
G |
T |
2: 52,148,753 (GRCm39) |
P2598Q |
probably damaging |
Het |
| Notch4 |
A |
T |
17: 34,791,491 (GRCm39) |
E546V |
probably damaging |
Het |
| Nudt18 |
A |
G |
14: 70,815,422 (GRCm39) |
T12A |
unknown |
Het |
| Nvl |
A |
C |
1: 180,939,851 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 58,994,144 (GRCm39) |
C1579* |
probably null |
Het |
| Or4b13 |
G |
A |
2: 90,083,165 (GRCm39) |
P56S |
probably damaging |
Het |
| Or51e2 |
T |
C |
7: 102,391,551 (GRCm39) |
I220V |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,246,051 (GRCm39) |
V272A |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
| Or8g19 |
T |
A |
9: 39,056,153 (GRCm39) |
Y252* |
probably null |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Paqr9 |
A |
G |
9: 95,442,246 (GRCm39) |
T79A |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,061,543 (GRCm39) |
V2798E |
probably damaging |
Het |
| Potefam3f |
A |
G |
8: 20,479,022 (GRCm39) |
N10S |
|
Het |
| Ptpn4 |
A |
T |
1: 119,617,764 (GRCm39) |
*557R |
probably null |
Het |
| Ptprt |
T |
C |
2: 161,375,443 (GRCm39) |
E1379G |
probably benign |
Het |
| Rad18 |
G |
T |
6: 112,642,286 (GRCm39) |
T327K |
possibly damaging |
Het |
| Rps2 |
T |
A |
17: 24,939,554 (GRCm39) |
I75N |
possibly damaging |
Het |
| Scgb2b2 |
A |
T |
7: 31,003,021 (GRCm39) |
R39W |
probably damaging |
Het |
| Sh3d21 |
A |
G |
4: 126,045,908 (GRCm39) |
F307S |
probably benign |
Het |
| Snap91 |
A |
G |
9: 86,674,669 (GRCm39) |
V507A |
unknown |
Het |
| Srgap1 |
T |
A |
10: 121,705,695 (GRCm39) |
Y243F |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,070,739 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
C |
14: 16,416,962 (GRCm38) |
V1161A |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,723,315 (GRCm39) |
D16G |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,196,580 (GRCm39) |
I1535F |
probably damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,274,822 (GRCm39) |
F278L |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,637 (GRCm39) |
D579E |
probably damaging |
Het |
| Vps45 |
T |
C |
3: 95,948,717 (GRCm39) |
N346S |
probably benign |
Het |
| Vps51 |
T |
A |
19: 6,127,419 (GRCm39) |
|
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,268,631 (GRCm39) |
N262D |
probably benign |
Het |
| Zmynd10 |
A |
G |
9: 107,425,976 (GRCm39) |
I103M |
possibly damaging |
Het |
| Zswim1 |
C |
T |
2: 164,667,719 (GRCm39) |
H324Y |
possibly damaging |
Het |
| Zxdc |
T |
C |
6: 90,361,155 (GRCm39) |
W507R |
unknown |
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 |
|
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'- CCAGTGATTATTCTAACACAAGCTG -3'
(R):5'- TGGATGCCTGACTTATAAGGTG -3'
Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CCAAAGATGTTGTGGACTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation