Incidental Mutation 'R0179:Marf1'
ID |
23070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
038447-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R0179 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 13969040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 144
(L144F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154869
(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: L323F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: L323F
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: L144F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0708 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
98% (81/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
C |
T |
16: 85,592,353 (GRCm39) |
S948N |
probably benign |
Het |
Adck1 |
A |
T |
12: 88,425,942 (GRCm39) |
M457L |
possibly damaging |
Het |
Adprm |
A |
T |
11: 66,929,051 (GRCm39) |
H313Q |
possibly damaging |
Het |
Adss1 |
T |
C |
12: 112,598,703 (GRCm39) |
I104T |
probably benign |
Het |
Agxt2 |
A |
C |
15: 10,399,134 (GRCm39) |
Q435P |
possibly damaging |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,509,463 (GRCm39) |
V968A |
possibly damaging |
Het |
Brf2 |
T |
C |
8: 27,615,896 (GRCm39) |
D163G |
possibly damaging |
Het |
Cd226 |
C |
A |
18: 89,225,263 (GRCm39) |
N53K |
probably benign |
Het |
Cdc42ep2 |
T |
C |
19: 5,968,636 (GRCm39) |
D23G |
probably benign |
Het |
Cdc7 |
T |
C |
5: 107,112,905 (GRCm39) |
S8P |
probably benign |
Het |
Cdh8 |
C |
T |
8: 99,838,344 (GRCm39) |
E499K |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,862,516 (GRCm39) |
F2534L |
probably benign |
Het |
Ckb |
T |
C |
12: 111,636,610 (GRCm39) |
T255A |
probably benign |
Het |
Cntnap5c |
G |
T |
17: 58,076,620 (GRCm39) |
W19L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,057,871 (GRCm39) |
E1854G |
probably benign |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cop1 |
A |
G |
1: 159,077,636 (GRCm39) |
D157G |
probably benign |
Het |
Csf2rb |
A |
C |
15: 78,220,572 (GRCm39) |
Q38P |
possibly damaging |
Het |
Ctla2b |
T |
C |
13: 61,044,107 (GRCm39) |
D52G |
possibly damaging |
Het |
Dcaf7 |
A |
T |
11: 105,942,623 (GRCm39) |
D190V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,058,918 (GRCm39) |
|
probably benign |
Het |
Dgkq |
A |
G |
5: 108,806,066 (GRCm39) |
|
probably benign |
Het |
Dhrs2 |
A |
G |
14: 55,477,933 (GRCm39) |
T222A |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
E4f1 |
G |
C |
17: 24,670,411 (GRCm39) |
T92S |
possibly damaging |
Het |
Ep400 |
A |
T |
5: 110,816,515 (GRCm39) |
S2669T |
probably damaging |
Het |
Eprs1 |
T |
G |
1: 185,145,744 (GRCm39) |
D1184E |
probably benign |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,289 (GRCm39) |
K99* |
probably null |
Het |
Fzr1 |
A |
T |
10: 81,204,904 (GRCm39) |
|
probably benign |
Het |
Gcc2 |
C |
T |
10: 58,112,472 (GRCm39) |
R1001C |
probably benign |
Het |
Gm4884 |
A |
G |
7: 40,693,252 (GRCm39) |
D407G |
probably benign |
Het |
Golga4 |
A |
T |
9: 118,389,808 (GRCm39) |
|
probably null |
Het |
Gp2 |
T |
G |
7: 119,051,540 (GRCm39) |
D225A |
possibly damaging |
Het |
Gramd1a |
T |
A |
7: 30,841,843 (GRCm39) |
T120S |
probably damaging |
Het |
Hbb-bh2 |
T |
A |
7: 103,488,434 (GRCm39) |
N121I |
probably benign |
Het |
Htr6 |
A |
T |
4: 138,789,437 (GRCm39) |
L276Q |
probably damaging |
Het |
Itga9 |
A |
T |
9: 118,490,454 (GRCm39) |
I262F |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,805,096 (GRCm39) |
|
probably benign |
Het |
Large1 |
T |
C |
8: 73,825,474 (GRCm39) |
N200S |
probably benign |
Het |
Lct |
C |
T |
1: 128,255,422 (GRCm39) |
V207I |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,355,956 (GRCm39) |
Y605* |
probably null |
Het |
Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,302,708 (GRCm39) |
Y17C |
probably damaging |
Het |
Myf5 |
T |
C |
10: 107,321,779 (GRCm39) |
D5G |
possibly damaging |
Het |
Nasp |
C |
T |
4: 116,459,354 (GRCm39) |
V375M |
probably damaging |
Het |
Nr1h2 |
A |
T |
7: 44,201,689 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
C |
18: 36,155,468 (GRCm39) |
Q447R |
probably benign |
Het |
Ntn5 |
G |
A |
7: 45,335,737 (GRCm39) |
G56D |
probably damaging |
Het |
Oasl2 |
A |
G |
5: 115,048,973 (GRCm39) |
R138G |
probably benign |
Het |
Or4c29 |
A |
T |
2: 88,740,237 (GRCm39) |
C167S |
possibly damaging |
Het |
Or5b124 |
T |
A |
19: 13,610,504 (GRCm39) |
F10I |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,207 (GRCm39) |
Y264C |
probably damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,455,612 (GRCm39) |
G664D |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,174,424 (GRCm39) |
E128G |
probably damaging |
Het |
Prpf19 |
T |
C |
19: 10,875,172 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
T |
A |
4: 57,270,118 (GRCm39) |
T15S |
probably benign |
Het |
R3hdm2 |
G |
A |
10: 127,330,975 (GRCm39) |
C818Y |
probably damaging |
Het |
Rad51d |
A |
G |
11: 82,780,824 (GRCm39) |
V39A |
possibly damaging |
Het |
Rptor |
A |
T |
11: 119,763,193 (GRCm39) |
T926S |
probably benign |
Het |
Rwdd4a |
G |
A |
8: 47,995,742 (GRCm39) |
D41N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,972,214 (GRCm39) |
S516P |
probably benign |
Het |
Ssbp3 |
T |
C |
4: 106,903,585 (GRCm39) |
S334P |
probably damaging |
Het |
Suco |
A |
G |
1: 161,703,874 (GRCm39) |
|
probably benign |
Het |
Synj1 |
T |
C |
16: 90,761,519 (GRCm39) |
K649R |
possibly damaging |
Het |
Tdp2 |
C |
T |
13: 25,024,431 (GRCm39) |
H243Y |
possibly damaging |
Het |
Tinag |
A |
G |
9: 76,904,164 (GRCm39) |
|
probably benign |
Het |
Trerf1 |
T |
C |
17: 47,627,588 (GRCm39) |
|
noncoding transcript |
Het |
Trip10 |
T |
C |
17: 57,569,349 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
A |
T |
11: 115,712,856 (GRCm39) |
S131C |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,523,828 (GRCm39) |
R794* |
probably null |
Het |
Vmn2r59 |
A |
T |
7: 41,696,432 (GRCm39) |
Y103* |
probably null |
Het |
Washc5 |
A |
G |
15: 59,224,379 (GRCm39) |
V460A |
probably benign |
Het |
Wdr87-ps |
A |
G |
7: 29,235,365 (GRCm39) |
|
noncoding transcript |
Het |
Whamm |
A |
G |
7: 81,243,763 (GRCm39) |
T358A |
probably benign |
Het |
Xlr4b |
C |
T |
X: 72,262,277 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 74,992,869 (GRCm39) |
|
probably benign |
Het |
Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
Zfp27 |
T |
A |
7: 29,595,850 (GRCm39) |
E38D |
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 |
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 |
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'- TTTTGCCAAATGAGGGAAAGGAAGTCT -3'
(R):5'- GATGAAACTGTGGCTTGGTAGCTGA -3'
Sequencing Primer
(F):5'- acgaccttctgtaacgcc -3'
(R):5'- AATACACTTTATTGGGGGTCAGC -3'
|
Posted On |
2013-04-16 |