Incidental Mutation 'R7174:Marf1'
ID |
558514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marf1
|
Ensembl Gene |
ENSMUSG00000060657 |
Gene Name |
meiosis regulator and mRNA stability 1 |
Synonyms |
4921513D23Rik |
MMRRC Submission |
045266-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
R7174 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
13927030-13977157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 13954817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 900
(D900V)
|
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: D900V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087770 Gene: ENSMUSG00000060657 AA Change: D900V
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: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
97% (61/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
C |
A |
5: 144,981,627 (GRCm39) |
A154E |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,596,060 (GRCm39) |
A419S |
probably benign |
Het |
Arap2 |
C |
G |
5: 62,761,621 (GRCm39) |
V1702L |
probably benign |
Het |
Arpc1a |
C |
T |
5: 145,034,087 (GRCm39) |
P152S |
probably benign |
Het |
Bbs10 |
T |
A |
10: 111,136,628 (GRCm39) |
C580* |
probably null |
Het |
Bcam |
A |
G |
7: 19,499,376 (GRCm39) |
Y216H |
probably damaging |
Het |
C2cd3 |
T |
C |
7: 100,081,405 (GRCm39) |
S1016P |
|
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
T |
A |
7: 17,491,839 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,446,264 (GRCm39) |
V666A |
probably benign |
Het |
Cntn3 |
A |
G |
6: 102,142,305 (GRCm39) |
F1021L |
probably benign |
Het |
Cr1l |
C |
T |
1: 194,811,497 (GRCm39) |
G119D |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,851,942 (GRCm39) |
H8L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,903,436 (GRCm39) |
|
probably null |
Het |
Frem1 |
G |
T |
4: 82,840,493 (GRCm39) |
T1811N |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,298,356 (GRCm39) |
Q227L |
probably benign |
Het |
Galk2 |
A |
G |
2: 125,738,621 (GRCm39) |
I138M |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,582 (GRCm39) |
V7A |
possibly damaging |
Het |
Katnb1 |
G |
A |
8: 95,824,069 (GRCm39) |
A450T |
probably benign |
Het |
Kif14 |
A |
T |
1: 136,448,995 (GRCm39) |
E1465V |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,312,941 (GRCm39) |
|
probably null |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lepr |
A |
G |
4: 101,607,535 (GRCm39) |
N251S |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,263,416 (GRCm39) |
M4379V |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,060,826 (GRCm39) |
N92S |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,745,006 (GRCm39) |
N855S |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,321,884 (GRCm39) |
M1087K |
probably benign |
Het |
Nlrp9c |
T |
C |
7: 26,084,722 (GRCm39) |
N286D |
probably benign |
Het |
Or12j4 |
T |
C |
7: 140,047,076 (GRCm39) |
*321Q |
probably null |
Het |
Or13c7d |
C |
T |
4: 43,770,691 (GRCm39) |
A107T |
not run |
Het |
Or4k2 |
T |
C |
14: 50,424,153 (GRCm39) |
I175V |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,598 (GRCm39) |
R305* |
probably null |
Het |
Or5g9 |
C |
T |
2: 85,552,297 (GRCm39) |
P183S |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,367 (GRCm39) |
S196R |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,808,980 (GRCm39) |
T478A |
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,199,587 (GRCm39) |
I385T |
probably benign |
Het |
Poteg |
C |
T |
8: 27,943,305 (GRCm39) |
R192W |
probably benign |
Het |
Prmt2 |
G |
T |
10: 76,061,173 (GRCm39) |
D104E |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,027,090 (GRCm39) |
N190S |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,816,063 (GRCm39) |
D641G |
possibly damaging |
Het |
Sh3gl1 |
A |
T |
17: 56,324,846 (GRCm39) |
M303K |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,018,892 (GRCm39) |
V649A |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,765,323 (GRCm39) |
N376D |
possibly damaging |
Het |
Socs3 |
A |
T |
11: 117,858,553 (GRCm39) |
Y168* |
probably null |
Het |
Spata31d1d |
A |
T |
13: 59,876,394 (GRCm39) |
N380K |
possibly damaging |
Het |
Speer1c |
T |
C |
5: 10,295,237 (GRCm39) |
K56E |
probably damaging |
Het |
Ssbp3 |
A |
G |
4: 106,894,843 (GRCm39) |
N254S |
probably benign |
Het |
Stard10 |
C |
T |
7: 100,995,226 (GRCm39) |
S326L |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,912,135 (GRCm39) |
D524G |
possibly damaging |
Het |
Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
Tchh |
C |
T |
3: 93,353,478 (GRCm39) |
R973C |
unknown |
Het |
Tmem67 |
T |
C |
4: 12,077,337 (GRCm39) |
R172G |
possibly damaging |
Het |
Top2a |
C |
A |
11: 98,914,922 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
T |
A |
12: 98,940,960 (GRCm39) |
N323K |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,804,667 (GRCm39) |
N276D |
probably benign |
Het |
Usp24 |
T |
G |
4: 106,219,878 (GRCm39) |
|
probably null |
Het |
Vmn1r18 |
A |
C |
6: 57,366,609 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
A |
T |
7: 12,315,628 (GRCm39) |
H730Q |
probably benign |
Het |
Wnk1 |
A |
C |
6: 119,947,939 (GRCm39) |
I500M |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,744,423 (GRCm39) |
Y451N |
probably damaging |
Het |
Zfp683 |
T |
A |
4: 133,783,064 (GRCm39) |
I176N |
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 |
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'- TGAGAGGAACTTAAGTTTAAATCTGCT -3'
(R):5'- ATCAGTTTTCACAGCTTGTCCTAAAA -3'
Sequencing Primer
(F):5'- GAAGTTCCTTAAGGGCGA -3'
(R):5'- CACAGCTTGTCCTAAAAATCCTTTTG -3'
|
Posted On |
2019-06-26 |