Incidental Mutation 'R7798:Marf1'
ID |
600393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
045648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R7798 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13956315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 842
(H842R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090300]
[ENSMUST00000229614]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090300
AA Change: H842R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: H842R
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 benign
Transcript: ENSMUST00000229614
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
A |
15: 79,019,932 (GRCm39) |
N128I |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,241,664 (GRCm39) |
T1176A |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,029,005 (GRCm39) |
V851A |
probably benign |
Het |
Abcc6 |
C |
A |
7: 45,626,277 (GRCm39) |
E1494* |
probably null |
Het |
Adamts14 |
A |
T |
10: 61,106,952 (GRCm39) |
V56E |
probably damaging |
Het |
Adamts15 |
G |
A |
9: 30,815,939 (GRCm39) |
T639M |
probably damaging |
Het |
Albfm1 |
T |
C |
5: 90,745,370 (GRCm39) |
S608P |
possibly damaging |
Het |
Arhgap11a |
A |
C |
2: 113,673,680 (GRCm39) |
V70G |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,249 (GRCm39) |
D113E |
probably benign |
Het |
Best1 |
T |
C |
19: 9,969,035 (GRCm39) |
Y227C |
probably damaging |
Het |
Camk2b |
A |
G |
11: 5,928,399 (GRCm39) |
S447P |
probably benign |
Het |
Ccdc88a |
C |
A |
11: 29,427,348 (GRCm39) |
Q1018K |
probably benign |
Het |
Cdhr17 |
T |
C |
5: 17,061,656 (GRCm39) |
F801L |
possibly damaging |
Het |
Cfap74 |
T |
A |
4: 155,507,079 (GRCm39) |
V180D |
|
Het |
Clca3a1 |
T |
A |
3: 144,463,723 (GRCm39) |
T185S |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,533,891 (GRCm39) |
S495G |
probably damaging |
Het |
Cyb5r2 |
A |
T |
7: 107,353,155 (GRCm39) |
Y96N |
possibly damaging |
Het |
Cyp21a1 |
T |
C |
17: 35,023,295 (GRCm39) |
K27E |
probably benign |
Het |
Cyp2ab1 |
T |
C |
16: 20,131,166 (GRCm39) |
E321G |
probably benign |
Het |
Des |
T |
C |
1: 75,339,003 (GRCm39) |
I228T |
probably damaging |
Het |
Dis3l |
G |
T |
9: 64,248,299 (GRCm39) |
P39T |
probably benign |
Het |
Disp2 |
A |
C |
2: 118,622,360 (GRCm39) |
I1031L |
probably benign |
Het |
Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
A |
2: 20,786,757 (GRCm39) |
|
probably null |
Het |
Fgf23 |
A |
T |
6: 127,050,177 (GRCm39) |
D62V |
probably damaging |
Het |
Galnt15 |
C |
T |
14: 31,751,862 (GRCm39) |
T138I |
possibly damaging |
Het |
Ggt6 |
A |
T |
11: 72,326,367 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
T |
A |
14: 118,391,098 (GRCm39) |
V209D |
probably damaging |
Het |
Gzma |
A |
T |
13: 113,232,858 (GRCm39) |
F78Y |
probably benign |
Het |
Igkv8-30 |
A |
T |
6: 70,094,355 (GRCm39) |
C19S |
probably benign |
Het |
Il1r1 |
G |
A |
1: 40,349,526 (GRCm39) |
V361I |
probably benign |
Het |
Intu |
T |
C |
3: 40,646,359 (GRCm39) |
V598A |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,287,513 (GRCm39) |
F471L |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,924,357 (GRCm39) |
V1081E |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,957,180 (GRCm39) |
V2163E |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,271,893 (GRCm39) |
K6552E |
probably damaging |
Het |
Mgat4b |
A |
G |
11: 50,116,497 (GRCm39) |
T10A |
possibly damaging |
Het |
Muc21 |
C |
G |
17: 35,932,146 (GRCm39) |
G680A |
unknown |
Het |
Muc5ac |
T |
C |
7: 141,347,778 (GRCm39) |
|
probably null |
Het |
Nrk |
CGCAGCAGCAGCAGCAGCAGC |
CGCAGCAGCAGCAGCAGC |
X: 137,883,426 (GRCm39) |
|
probably benign |
Het |
Nsun4 |
T |
G |
4: 115,908,371 (GRCm39) |
S730R |
possibly damaging |
Het |
Or12e1 |
A |
T |
2: 87,022,636 (GRCm39) |
I202L |
probably benign |
Het |
Or12k7 |
A |
T |
2: 36,959,186 (GRCm39) |
S290C |
probably damaging |
Het |
Or1n1 |
T |
C |
2: 36,750,348 (GRCm39) |
E4G |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,617 (GRCm39) |
F305L |
probably benign |
Het |
Or4k15 |
A |
T |
14: 50,364,895 (GRCm39) |
Y287F |
probably damaging |
Het |
Padi3 |
C |
T |
4: 140,513,750 (GRCm39) |
E653K |
probably benign |
Het |
Pde4a |
A |
G |
9: 21,109,959 (GRCm39) |
E280G |
possibly damaging |
Het |
Phactr3 |
G |
A |
2: 177,925,703 (GRCm39) |
R326H |
probably benign |
Het |
Prob1 |
G |
A |
18: 35,786,397 (GRCm39) |
P619L |
possibly damaging |
Het |
Ptk2 |
G |
A |
15: 73,167,224 (GRCm39) |
R368W |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,116,293 (GRCm39) |
T240A |
probably benign |
Het |
Rpa1 |
A |
T |
11: 75,203,635 (GRCm39) |
Y356N |
probably damaging |
Het |
Rxrb |
T |
A |
17: 34,252,579 (GRCm39) |
D165E |
probably damaging |
Het |
Sco1 |
A |
G |
11: 66,944,628 (GRCm39) |
T84A |
possibly damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,531 (GRCm39) |
I380V |
probably benign |
Het |
Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,968,344 (GRCm39) |
S459P |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,771,162 (GRCm39) |
S1503R |
possibly damaging |
Het |
Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
Spty2d1 |
G |
A |
7: 46,645,804 (GRCm39) |
S613F |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,793,776 (GRCm39) |
Y440N |
probably damaging |
Het |
Syn3 |
A |
G |
10: 85,916,117 (GRCm39) |
Y290H |
probably damaging |
Het |
Tex15 |
C |
T |
8: 34,071,875 (GRCm39) |
S2474F |
possibly damaging |
Het |
Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
Tmcc1 |
A |
T |
6: 116,020,539 (GRCm39) |
S304R |
|
Het |
Tmem130 |
T |
G |
5: 144,680,580 (GRCm39) |
K275Q |
probably damaging |
Het |
Tmem9 |
C |
A |
1: 135,961,927 (GRCm39) |
T174K |
probably damaging |
Het |
Ttyh3 |
C |
T |
5: 140,620,538 (GRCm39) |
R233Q |
probably damaging |
Het |
Tut7 |
A |
T |
13: 59,963,389 (GRCm39) |
M323K |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,996,107 (GRCm39) |
M180T |
probably benign |
Het |
Ube4a |
A |
G |
9: 44,844,629 (GRCm39) |
V874A |
probably damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,475,582 (GRCm39) |
N350S |
probably damaging |
Het |
Vegfa |
C |
T |
17: 46,342,761 (GRCm39) |
G19D |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,041,518 (GRCm39) |
C399F |
possibly damaging |
Het |
Vmn2r65 |
G |
T |
7: 84,595,530 (GRCm39) |
P385T |
probably benign |
Het |
Vmn2r65 |
A |
G |
7: 84,596,192 (GRCm39) |
F164S |
probably 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 |
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 |
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'- CCATTATTGCATACAGGAGGAATGG -3'
(R):5'- TTCACTCTGGTCACTTGCAG -3'
Sequencing Primer
(F):5'- TATTGCATACAGGAGGAATGGGAATG -3'
(R):5'- GCAGTATCTCATTCAGACAAGTGAC -3'
|
Posted On |
2019-11-26 |