Incidental Mutation 'R0295:Marf1'
ID |
37709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
038512-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.222)
|
Stock # |
R0295 (G1)
|
Quality Score |
212 |
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: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
Validation Efficiency |
100% (70/70) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
G |
A |
10: 76,290,642 (GRCm39) |
S127N |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,767,478 (GRCm39) |
R953G |
probably benign |
Het |
Adamtsl3 |
T |
A |
7: 82,197,213 (GRCm39) |
|
probably null |
Het |
Adh4 |
A |
G |
3: 138,134,837 (GRCm39) |
D337G |
probably damaging |
Het |
Apob |
T |
A |
12: 8,052,181 (GRCm39) |
Y1207* |
probably null |
Het |
Birc6 |
T |
C |
17: 74,920,357 (GRCm39) |
|
probably benign |
Het |
Bms1 |
A |
G |
6: 118,366,298 (GRCm39) |
I1065T |
probably benign |
Het |
Cacna1i |
T |
A |
15: 80,240,412 (GRCm39) |
L378Q |
probably damaging |
Het |
Ccdc127 |
C |
A |
13: 74,504,989 (GRCm39) |
P179H |
probably damaging |
Het |
Ccdc18 |
A |
T |
5: 108,321,655 (GRCm39) |
K586N |
probably damaging |
Het |
Cep290 |
A |
C |
10: 100,373,683 (GRCm39) |
E1321A |
probably damaging |
Het |
Cstpp1 |
A |
T |
2: 91,112,939 (GRCm39) |
I173N |
probably damaging |
Het |
Ctc1 |
A |
G |
11: 68,921,414 (GRCm39) |
K682E |
possibly damaging |
Het |
Cux1 |
A |
C |
5: 136,342,066 (GRCm39) |
V442G |
probably benign |
Het |
Dph2 |
A |
T |
4: 117,748,127 (GRCm39) |
V150E |
possibly damaging |
Het |
Etv6 |
A |
G |
6: 134,243,238 (GRCm39) |
D331G |
probably benign |
Het |
Fbxo42 |
A |
G |
4: 140,927,808 (GRCm39) |
D696G |
probably damaging |
Het |
Fbxo8 |
G |
A |
8: 57,043,109 (GRCm39) |
D198N |
probably benign |
Het |
Gria4 |
T |
C |
9: 4,793,840 (GRCm39) |
T73A |
possibly damaging |
Het |
H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
Ifng |
G |
T |
10: 118,277,154 (GRCm39) |
S32I |
possibly damaging |
Het |
Ildr1 |
A |
G |
16: 36,529,839 (GRCm39) |
|
probably null |
Het |
Knl1 |
A |
C |
2: 118,919,320 (GRCm39) |
D1824A |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,519,858 (GRCm39) |
Y108* |
probably null |
Het |
Lcp1 |
A |
G |
14: 75,436,860 (GRCm39) |
I69V |
probably null |
Het |
Lrp6 |
A |
T |
6: 134,434,656 (GRCm39) |
V1349E |
probably benign |
Het |
Lrrcc1 |
A |
T |
3: 14,630,909 (GRCm39) |
E1009D |
probably benign |
Het |
Med14 |
G |
C |
X: 12,551,987 (GRCm39) |
R1223G |
probably damaging |
Het |
Mesd |
C |
T |
7: 83,547,073 (GRCm39) |
Q179* |
probably null |
Het |
Myh7 |
A |
G |
14: 55,222,278 (GRCm39) |
|
probably benign |
Het |
Myo6 |
T |
C |
9: 80,190,861 (GRCm39) |
I804T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,174,297 (GRCm39) |
I1521V |
possibly damaging |
Het |
Nosip |
T |
A |
7: 44,726,340 (GRCm39) |
I249N |
probably damaging |
Het |
Nostrin |
A |
C |
2: 69,009,760 (GRCm39) |
E296A |
probably benign |
Het |
Oprk1 |
T |
C |
1: 5,669,073 (GRCm39) |
L173S |
possibly damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,182 (GRCm39) |
I45F |
probably damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,499 (GRCm39) |
V225D |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
Or5p1 |
T |
G |
7: 107,916,892 (GRCm39) |
S264A |
probably benign |
Het |
Pdzd7 |
A |
G |
19: 45,025,511 (GRCm39) |
V328A |
probably benign |
Het |
Podxl2 |
A |
T |
6: 88,826,660 (GRCm39) |
S215R |
probably benign |
Het |
Prss36 |
T |
G |
7: 127,535,027 (GRCm39) |
T418P |
possibly damaging |
Het |
Ralgps2 |
T |
A |
1: 156,651,555 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,427,863 (GRCm39) |
|
probably null |
Het |
Rgs1 |
A |
T |
1: 144,121,224 (GRCm39) |
I149N |
probably damaging |
Het |
Rgs16 |
A |
G |
1: 153,619,483 (GRCm39) |
E163G |
probably damaging |
Het |
Rnf121 |
A |
G |
7: 101,684,553 (GRCm39) |
F120S |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,169 (GRCm39) |
Y823* |
probably null |
Het |
Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
St6gal1 |
T |
A |
16: 23,174,953 (GRCm39) |
|
probably benign |
Het |
Tet3 |
G |
A |
6: 83,346,121 (GRCm39) |
P1304S |
probably benign |
Het |
Timm29 |
T |
C |
9: 21,504,372 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
T |
A |
5: 120,677,125 (GRCm39) |
I687F |
probably damaging |
Het |
Trim46 |
A |
G |
3: 89,152,420 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
T |
A |
7: 67,319,600 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,045,540 (GRCm39) |
V586L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,588,955 (GRCm39) |
|
probably benign |
Het |
Uba3 |
A |
T |
6: 97,168,544 (GRCm39) |
H160Q |
possibly damaging |
Het |
Usp32 |
A |
G |
11: 84,944,518 (GRCm39) |
S316P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,860,310 (GRCm39) |
I352M |
probably benign |
Het |
Zcwpw1 |
G |
T |
5: 137,815,734 (GRCm39) |
L412F |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,806,281 (GRCm39) |
N2254K |
probably damaging |
Het |
Zscan4e |
A |
G |
7: 11,041,543 (GRCm39) |
S138P |
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 |
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 |
2013-05-23 |