Incidental Mutation 'R0058:Marf1'
| ID |
34373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marf1
|
| Ensembl Gene |
ENSMUSG00000060657 |
| Gene Name |
meiosis regulator and mRNA stability 1 |
| Synonyms |
4921513D23Rik |
| MMRRC Submission |
038352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R0058 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13960398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 549
(A549T)
|
| 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: A549T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: A549T
| 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: A370T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231032
|
| Meta Mutation Damage Score |
0.5302 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (74/74) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
T |
G |
5: 137,289,104 (GRCm39) |
V270G |
probably damaging |
Het |
| Acss1 |
A |
T |
2: 150,470,459 (GRCm39) |
W394R |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
| Bpifb1 |
G |
A |
2: 154,048,460 (GRCm39) |
R165H |
possibly damaging |
Het |
| Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,415,405 (GRCm39) |
D86G |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,548,679 (GRCm39) |
D1081Y |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,122 (GRCm39) |
R410W |
probably damaging |
Het |
| Cntnap4 |
G |
A |
8: 113,512,416 (GRCm39) |
E593K |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
| Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
| Ednra |
C |
A |
8: 78,393,951 (GRCm39) |
|
probably null |
Het |
| Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
| Fbxw28 |
A |
G |
9: 109,157,279 (GRCm39) |
I323T |
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
| Frmd4b |
A |
G |
6: 97,400,460 (GRCm39) |
V63A |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,985 (GRCm39) |
A356T |
possibly damaging |
Het |
| Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
| Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,820,231 (GRCm39) |
V2851A |
possibly damaging |
Het |
| Igkv8-18 |
G |
A |
6: 70,333,105 (GRCm39) |
|
probably benign |
Het |
| Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,168 (GRCm39) |
T179A |
possibly damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
| Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
| Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
| Myh6 |
C |
T |
14: 55,200,861 (GRCm39) |
R169Q |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
| Obox7 |
C |
T |
7: 14,398,313 (GRCm39) |
P76S |
probably benign |
Het |
| Or10ak12 |
A |
G |
4: 118,666,677 (GRCm39) |
M128T |
probably benign |
Het |
| Or11l3 |
A |
T |
11: 58,516,494 (GRCm39) |
I126N |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,262,093 (GRCm39) |
A862V |
probably damaging |
Het |
| Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
| Prdx3 |
T |
C |
19: 60,862,950 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
| Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
| Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
C |
A |
8: 46,249,300 (GRCm39) |
D831E |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,238,291 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
| Stam |
T |
C |
2: 14,142,952 (GRCm39) |
C336R |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,898,495 (GRCm39) |
A1042S |
probably damaging |
Het |
| Stxbp5l |
T |
A |
16: 36,962,736 (GRCm39) |
D773V |
possibly damaging |
Het |
| Sugct |
A |
T |
13: 17,847,166 (GRCm39) |
L39Q |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,071,522 (GRCm39) |
V2041A |
possibly damaging |
Het |
| Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
| Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
A |
G |
5: 137,309,107 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
| Vmn1r179 |
C |
T |
7: 23,628,592 (GRCm39) |
T261I |
possibly damaging |
Het |
| Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
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 |
|
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 |
|
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'- CAGAATTTGCCTGCAACACTTTCCC -3'
(R):5'- GCCTAGCCGATTATTGGAAGCAGC -3'
Sequencing Primer
(F):5'- CTGGCATGGCTTTGACAC -3'
(R):5'- CTGAAGTGCAGACATGACTTGTTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation