Incidental Mutation 'R7221:Marf1'
ID |
561851 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
045293-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R7221 (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 13960349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 565
(R565L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090300]
[ENSMUST00000229614]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090300
AA Change: R565L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: R565L
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 damaging
Transcript: ENSMUST00000229614
AA Change: R386L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (77/77) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,836,354 (GRCm39) |
|
probably benign |
Het |
Abr |
A |
C |
11: 76,313,987 (GRCm39) |
M720R |
probably benign |
Het |
Acad10 |
G |
A |
5: 121,768,273 (GRCm39) |
T761M |
probably damaging |
Het |
Agxt |
G |
T |
1: 93,065,623 (GRCm39) |
G164V |
possibly damaging |
Het |
Ankar |
C |
T |
1: 72,689,390 (GRCm39) |
G1247D |
probably damaging |
Het |
Bptf |
A |
C |
11: 106,945,658 (GRCm39) |
L2527R |
probably damaging |
Het |
Brinp2 |
T |
C |
1: 158,094,117 (GRCm39) |
H195R |
possibly damaging |
Het |
Cacna2d4 |
G |
T |
6: 119,213,624 (GRCm39) |
R14S |
probably benign |
Het |
Cep126 |
A |
T |
9: 8,100,988 (GRCm39) |
C515* |
probably null |
Het |
Chia1 |
A |
T |
3: 106,039,236 (GRCm39) |
N442I |
probably damaging |
Het |
Clasp2 |
A |
G |
9: 113,681,825 (GRCm39) |
D327G |
probably damaging |
Het |
Cnbd2 |
T |
C |
2: 156,215,581 (GRCm39) |
F519L |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,041,869 (GRCm39) |
F1214I |
possibly damaging |
Het |
Cul9 |
A |
T |
17: 46,839,491 (GRCm39) |
M829K |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,493,175 (GRCm39) |
Q223R |
possibly damaging |
Het |
Defb37 |
A |
T |
8: 19,040,988 (GRCm39) |
M1K |
probably null |
Het |
Dnah7c |
A |
T |
1: 46,494,937 (GRCm39) |
Q55L |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 104,791,432 (GRCm39) |
N2882S |
probably benign |
Het |
Eif2b4 |
A |
T |
5: 31,345,131 (GRCm39) |
D463E |
possibly damaging |
Het |
Elapor1 |
T |
G |
3: 108,382,317 (GRCm39) |
D232A |
possibly damaging |
Het |
Elovl1 |
C |
T |
4: 118,288,811 (GRCm39) |
H167Y |
probably damaging |
Het |
Emb |
T |
A |
13: 117,404,013 (GRCm39) |
L255Q |
probably damaging |
Het |
Eogt |
T |
C |
6: 97,089,685 (GRCm39) |
Y465C |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,375,115 (GRCm39) |
H111R |
probably damaging |
Het |
Fam234b |
T |
C |
6: 135,205,529 (GRCm39) |
F498S |
probably damaging |
Het |
Fgfr3 |
GAGGCTGGCAGCGTGTACGCAGGC |
GAGGC |
5: 33,890,092 (GRCm39) |
|
probably null |
Het |
Flrt3 |
T |
A |
2: 140,503,090 (GRCm39) |
E179D |
probably damaging |
Het |
Fndc3a |
T |
C |
14: 72,793,597 (GRCm39) |
R993G |
probably benign |
Het |
Gm14325 |
T |
C |
2: 177,476,403 (GRCm39) |
T14A |
probably damaging |
Het |
Gm5464 |
T |
A |
14: 67,106,681 (GRCm39) |
V106D |
unknown |
Het |
Gpatch11 |
T |
A |
17: 79,149,546 (GRCm39) |
I182N |
possibly damaging |
Het |
Grm6 |
A |
G |
11: 50,753,870 (GRCm39) |
R725G |
probably damaging |
Het |
Hap1 |
A |
T |
11: 100,239,655 (GRCm39) |
M588K |
probably benign |
Het |
Icam2 |
A |
G |
11: 106,273,268 (GRCm39) |
F15L |
probably benign |
Het |
Ints8 |
A |
G |
4: 11,225,613 (GRCm39) |
M648T |
probably benign |
Het |
Ipo11 |
A |
T |
13: 107,029,065 (GRCm39) |
L296Q |
probably damaging |
Het |
Kirrel1 |
G |
A |
3: 86,993,704 (GRCm39) |
Q518* |
probably null |
Het |
Krt18 |
G |
T |
15: 101,937,967 (GRCm39) |
D155Y |
possibly damaging |
Het |
Lctl |
A |
T |
9: 64,026,217 (GRCm39) |
K91* |
probably null |
Het |
Med13 |
A |
T |
11: 86,178,921 (GRCm39) |
D1458E |
probably benign |
Het |
Mroh8 |
T |
A |
2: 157,071,837 (GRCm39) |
Y556F |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,553,495 (GRCm39) |
G4266D |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,939,249 (GRCm39) |
F182I |
probably damaging |
Het |
Obox3 |
A |
T |
7: 15,359,983 (GRCm39) |
Y229N |
probably benign |
Het |
Or11h7 |
A |
T |
14: 50,891,528 (GRCm39) |
Y278F |
probably damaging |
Het |
Or2b2 |
T |
C |
13: 21,887,272 (GRCm39) |
S34P |
probably damaging |
Het |
Or2b4 |
A |
G |
17: 38,116,452 (GRCm39) |
K139E |
probably benign |
Het |
Or4a74 |
T |
C |
2: 89,440,272 (GRCm39) |
Y58C |
probably damaging |
Het |
Or4c108 |
A |
G |
2: 88,803,497 (GRCm39) |
V246A |
probably damaging |
Het |
Or4p22 |
T |
A |
2: 88,317,973 (GRCm39) |
V299D |
probably damaging |
Het |
Or8d1 |
A |
G |
9: 38,766,538 (GRCm39) |
Y60C |
probably damaging |
Het |
Pabpc2 |
T |
A |
18: 39,906,963 (GRCm39) |
V76D |
possibly damaging |
Het |
Parp9 |
T |
C |
16: 35,774,071 (GRCm39) |
W348R |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,004 (GRCm39) |
T455A |
probably damaging |
Het |
Phactr2 |
A |
C |
10: 13,122,783 (GRCm39) |
D446E |
possibly damaging |
Het |
Pi4kb |
T |
C |
3: 94,901,500 (GRCm39) |
L389P |
probably damaging |
Het |
Pla2g4f |
C |
T |
2: 120,131,476 (GRCm39) |
R749H |
probably benign |
Het |
Plec |
A |
G |
15: 76,059,974 (GRCm39) |
V3321A |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,466,580 (GRCm39) |
V180A |
probably damaging |
Het |
Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
Potefam3d |
T |
G |
8: 69,975,316 (GRCm39) |
D50A |
probably benign |
Het |
Rubcn |
T |
C |
16: 32,687,293 (GRCm39) |
|
probably null |
Het |
Sacs |
T |
C |
14: 61,446,255 (GRCm39) |
V2767A |
probably damaging |
Het |
Selenbp2 |
C |
G |
3: 94,611,133 (GRCm39) |
Y414* |
probably null |
Het |
Slc45a4 |
A |
T |
15: 73,458,259 (GRCm39) |
M430K |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,782,020 (GRCm39) |
L1145P |
possibly damaging |
Het |
Spns2 |
A |
G |
11: 72,347,742 (GRCm39) |
V316A |
probably benign |
Het |
Srl |
T |
A |
16: 4,300,811 (GRCm39) |
E753D |
probably damaging |
Het |
Thada |
T |
C |
17: 84,771,794 (GRCm39) |
T23A |
possibly damaging |
Het |
Tmem231 |
T |
C |
8: 112,660,308 (GRCm39) |
T31A |
probably benign |
Het |
Tpr |
C |
T |
1: 150,321,929 (GRCm39) |
T2321M |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,772,195 (GRCm39) |
N2615I |
unknown |
Het |
Vmn1r41 |
A |
G |
6: 89,724,034 (GRCm39) |
I192V |
probably benign |
Het |
Vmn2r83 |
A |
T |
10: 79,316,001 (GRCm39) |
T466S |
probably benign |
Het |
Vnn1 |
A |
G |
10: 23,770,952 (GRCm39) |
D60G |
probably benign |
Het |
Wiz |
G |
A |
17: 32,578,139 (GRCm39) |
P449S |
probably benign |
Het |
Zic1 |
A |
G |
9: 91,246,785 (GRCm39) |
S96P |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,981,012 (GRCm39) |
S471T |
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 |
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'- GTAGCAGATCCAGAATTTGCCTG -3'
(R):5'- CAGTGCCACACTCTACTCTATG -3'
Sequencing Primer
(F):5'- CCTGGCATGGCTTTGACACTG -3'
(R):5'- ACTCTATGTTTATAACCTGCCAGC -3'
|
Posted On |
2019-06-26 |