Incidental Mutation 'R4994:Marf1'
ID |
385133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
042588-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R4994 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13932095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1641
(K1641E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090300]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090300
AA Change: K1641E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: K1641E
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,208,962 (GRCm39) |
E364G |
probably benign |
Het |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Abcb4 |
A |
G |
5: 8,978,524 (GRCm39) |
T557A |
probably damaging |
Het |
Acadm |
C |
T |
3: 153,635,221 (GRCm39) |
E298K |
probably damaging |
Het |
Adrb3 |
T |
C |
8: 27,717,855 (GRCm39) |
|
probably null |
Het |
Aldh1b1 |
A |
G |
4: 45,803,128 (GRCm39) |
Y222C |
possibly damaging |
Het |
Ankrd6 |
A |
G |
4: 32,860,387 (GRCm39) |
Y19H |
probably damaging |
Het |
Arhgap21 |
T |
A |
2: 20,854,701 (GRCm39) |
T1554S |
probably benign |
Het |
BC043934 |
T |
C |
9: 96,319,173 (GRCm39) |
|
noncoding transcript |
Het |
Birc6 |
A |
G |
17: 74,901,319 (GRCm39) |
|
probably benign |
Het |
Blm |
A |
C |
7: 80,108,573 (GRCm39) |
F1357C |
probably benign |
Het |
Cd209a |
T |
C |
8: 3,797,713 (GRCm39) |
|
probably null |
Het |
Cdk7 |
G |
A |
13: 100,854,103 (GRCm39) |
H129Y |
probably damaging |
Het |
Clec14a |
G |
T |
12: 58,315,070 (GRCm39) |
P184Q |
probably damaging |
Het |
Cma1 |
T |
A |
14: 56,179,128 (GRCm39) |
I243F |
probably damaging |
Het |
Cntnap3 |
G |
T |
13: 64,909,798 (GRCm39) |
T769K |
possibly damaging |
Het |
Col5a1 |
A |
C |
2: 27,922,751 (GRCm39) |
K273T |
possibly damaging |
Het |
Csnk1e |
A |
G |
15: 79,309,129 (GRCm39) |
Y266H |
probably damaging |
Het |
Cyb5d1 |
A |
G |
11: 69,284,597 (GRCm39) |
L185S |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,942,998 (GRCm39) |
|
probably null |
Het |
Dipk2a |
C |
A |
9: 94,419,486 (GRCm39) |
R148L |
probably benign |
Het |
Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
Dzank1 |
T |
G |
2: 144,364,486 (GRCm39) |
D37A |
probably damaging |
Het |
Echdc2 |
A |
G |
4: 108,022,825 (GRCm39) |
I34V |
probably benign |
Het |
Esm1 |
A |
T |
13: 113,349,965 (GRCm39) |
R128S |
probably benign |
Het |
Fbh1 |
T |
A |
2: 11,769,041 (GRCm39) |
I251F |
probably damaging |
Het |
Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,948 (GRCm39) |
S49R |
probably damaging |
Het |
Gm17093 |
A |
T |
14: 44,756,779 (GRCm39) |
Q82L |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,348,067 (GRCm39) |
|
probably null |
Het |
Hspa4l |
C |
A |
3: 40,700,081 (GRCm39) |
|
probably benign |
Het |
Il3ra |
G |
A |
14: 14,351,080 (GRCm38) |
A201T |
probably benign |
Het |
Irx5 |
T |
A |
8: 93,087,409 (GRCm39) |
V447E |
probably damaging |
Het |
Kif14 |
G |
T |
1: 136,410,697 (GRCm39) |
L668F |
probably damaging |
Het |
Lag3 |
T |
A |
6: 124,881,416 (GRCm39) |
R519W |
unknown |
Het |
Lgr4 |
A |
G |
2: 109,842,283 (GRCm39) |
N756S |
probably damaging |
Het |
Lingo4 |
T |
A |
3: 94,310,308 (GRCm39) |
H415Q |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,309,848 (GRCm39) |
H262R |
probably benign |
Het |
Lkaaear1 |
C |
A |
2: 181,339,376 (GRCm39) |
G25* |
probably null |
Het |
Maco1 |
A |
G |
4: 134,555,610 (GRCm39) |
Y288H |
probably damaging |
Het |
Mtfmt |
T |
C |
9: 65,351,133 (GRCm39) |
|
probably benign |
Het |
Mtif3 |
G |
A |
5: 146,893,598 (GRCm39) |
T203M |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,407,430 (GRCm39) |
I2740T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,903,809 (GRCm39) |
T720A |
probably benign |
Het |
Or2d2 |
T |
C |
7: 106,728,271 (GRCm39) |
T110A |
probably benign |
Het |
Peak1 |
T |
A |
9: 56,148,560 (GRCm39) |
D32V |
possibly damaging |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Plekhg3 |
A |
G |
12: 76,612,311 (GRCm39) |
R391G |
possibly damaging |
Het |
Ppfia3 |
T |
C |
7: 44,990,542 (GRCm39) |
D919G |
probably damaging |
Het |
Pramel23 |
T |
A |
4: 143,424,939 (GRCm39) |
Q168L |
possibly damaging |
Het |
Rnase2b |
T |
A |
14: 51,400,208 (GRCm39) |
D96E |
possibly damaging |
Het |
Rsf1 |
CGGCGGC |
CGGCGGCCGCGGCGGC |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpina3f |
A |
G |
12: 104,186,615 (GRCm39) |
T394A |
probably benign |
Het |
Six3 |
A |
G |
17: 85,928,720 (GRCm39) |
N18S |
possibly damaging |
Het |
Slc12a5 |
T |
A |
2: 164,825,285 (GRCm39) |
|
probably null |
Het |
Slc35f6 |
A |
G |
5: 30,805,427 (GRCm39) |
N21S |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,729,351 (GRCm39) |
I454N |
probably damaging |
Het |
Slc40a1 |
T |
A |
1: 45,948,824 (GRCm39) |
E485D |
probably damaging |
Het |
Sort1 |
G |
A |
3: 108,235,385 (GRCm39) |
C255Y |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,785,771 (GRCm39) |
T624S |
probably benign |
Het |
Stk33 |
T |
A |
7: 108,939,605 (GRCm39) |
I99L |
probably benign |
Het |
Taf4b |
T |
A |
18: 15,031,100 (GRCm39) |
I828N |
probably damaging |
Het |
Terf2 |
T |
C |
8: 107,803,110 (GRCm39) |
|
probably benign |
Het |
Timd4 |
C |
T |
11: 46,706,344 (GRCm39) |
R49C |
probably damaging |
Het |
Tpte |
T |
C |
8: 22,808,362 (GRCm39) |
S166P |
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,264,052 (GRCm39) |
L13P |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,975,476 (GRCm39) |
Y247* |
probably null |
Het |
Trnt1 |
C |
T |
6: 106,755,853 (GRCm39) |
Q303* |
probably null |
Het |
Tspyl5 |
T |
A |
15: 33,687,201 (GRCm39) |
Q248L |
possibly damaging |
Het |
Ubxn7 |
A |
T |
16: 32,200,322 (GRCm39) |
K337N |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,095,816 (GRCm39) |
I1234F |
probably benign |
Het |
Vmn1r127 |
A |
T |
7: 21,052,943 (GRCm39) |
F282I |
probably damaging |
Het |
Wdhd1 |
A |
T |
14: 47,506,111 (GRCm39) |
|
probably null |
Het |
Zfp605 |
A |
G |
5: 110,275,352 (GRCm39) |
K157E |
probably damaging |
Het |
Zhx2 |
T |
A |
15: 57,684,755 (GRCm39) |
D41E |
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 |
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'- TCGGCACAGGTACTTTTACAC -3'
(R):5'- TGCTTGATTACTTGATGCTGACTTC -3'
Sequencing Primer
(F):5'- ACCTGAAACAGTATTGCTTTTTCCTG -3'
(R):5'- ACTTGATGCTGACTTCGGAGGC -3'
|
Posted On |
2016-05-10 |