Incidental Mutation 'R3821:Marf1'
| ID |
274950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marf1
|
| Ensembl Gene |
ENSMUSG00000060657 |
| Gene Name |
meiosis regulator and mRNA stability 1 |
| Synonyms |
4921513D23Rik |
| MMRRC Submission |
040883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R3821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13960418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 542
(L542Q)
|
| 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: L542Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: L542Q
| 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 |
possibly damaging
Transcript: ENSMUST00000229614
AA Change: L363Q
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231032
|
| Meta Mutation Damage Score |
0.2055 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
| Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
| Adamtsl3 |
G |
T |
7: 82,255,687 (GRCm39) |
|
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,308 (GRCm39) |
I481F |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
| Arpin |
G |
A |
7: 79,579,408 (GRCm39) |
R72C |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,819,066 (GRCm39) |
E466G |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Clgn |
A |
G |
8: 84,147,106 (GRCm39) |
I353V |
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cramp1 |
G |
A |
17: 25,193,756 (GRCm39) |
T908I |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
A |
T |
17: 74,134,390 (GRCm39) |
I250F |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,936,911 (GRCm39) |
V555A |
possibly damaging |
Het |
| Erbb4 |
A |
G |
1: 68,345,072 (GRCm39) |
S550P |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,559,836 (GRCm39) |
L1557Q |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,253,246 (GRCm39) |
I506T |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,890,596 (GRCm39) |
K171R |
probably benign |
Het |
| Hscb |
A |
T |
5: 110,984,194 (GRCm39) |
D52E |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,514,487 (GRCm39) |
I40N |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,267,770 (GRCm39) |
T149A |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,319,224 (GRCm39) |
H244Q |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,588,661 (GRCm39) |
D449E |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lhfpl4 |
A |
G |
6: 113,171,069 (GRCm39) |
V39A |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrpl19 |
C |
A |
6: 81,938,987 (GRCm39) |
E272* |
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
| Or2a51 |
A |
G |
6: 43,178,604 (GRCm39) |
T9A |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
| Ptprb |
G |
T |
10: 116,185,979 (GRCm39) |
R1678L |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,226,375 (GRCm38) |
I1323L |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,248,874 (GRCm39) |
N127I |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,467,699 (GRCm39) |
C814R |
probably benign |
Het |
| Sdhb |
C |
T |
4: 140,706,399 (GRCm39) |
R279* |
probably null |
Het |
| Shroom4 |
C |
T |
X: 6,536,276 (GRCm39) |
Q1165* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Slc20a2 |
A |
G |
8: 23,028,918 (GRCm39) |
I130V |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,549 (GRCm39) |
Y741C |
possibly damaging |
Het |
| Tas1r1 |
G |
T |
4: 152,119,138 (GRCm39) |
L144I |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,333,089 (GRCm39) |
V92A |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,847,477 (GRCm39) |
H1207L |
probably damaging |
Het |
| Tmem209 |
G |
T |
6: 30,505,959 (GRCm39) |
P116T |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,779,127 (GRCm39) |
V57A |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,610,279 (GRCm39) |
D249V |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,824,157 (GRCm39) |
|
probably null |
Het |
| Ufc1 |
A |
G |
1: 171,117,172 (GRCm39) |
|
probably benign |
Het |
| Unc5cl |
T |
C |
17: 48,767,001 (GRCm39) |
L125P |
possibly damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,061 (GRCm39) |
S57N |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,485,816 (GRCm39) |
S164P |
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 |
|
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 |
|
|
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'- GTCGGCAATAGCATTTGAACTC -3'
(R):5'- GCCTAGCCGATTATTGGAAGC -3'
Sequencing Primer
(F):5'- GGCAATAGCATTTGAACTCTTGGC -3'
(R):5'- GCCGATTATTGGAAGCAGCATTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation