Incidental Mutation 'IGL02148:Mei1'
| ID |
281875 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mei1
|
| Ensembl Gene |
ENSMUSG00000068117 |
| Gene Name |
meiotic double-stranded break formation protein 1 |
| Synonyms |
mei1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
IGL02148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 81976912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 589
(S589*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
[ENSMUST00000229119]
|
| AlphaFold |
Q9D4I2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089178
AA Change: S539*
|
| SMART Domains |
Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: S539*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
123 |
498 |
1e-3 |
SMART |
|
low complexity region
|
956 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186125
AA Change: S165*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188048
AA Change: S165*
|
| SMART Domains |
Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: S165*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189540
AA Change: S165*
|
| SMART Domains |
Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: S165*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229119
AA Change: S589*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice of both sexes exhibit meiotic defects and are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
C |
T |
4: 63,300,716 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,733,469 (GRCm39) |
V663A |
possibly damaging |
Het |
| Cdh13 |
A |
G |
8: 119,925,697 (GRCm39) |
D355G |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,315,983 (GRCm39) |
|
probably benign |
Het |
| Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
| Dclk1 |
T |
A |
3: 55,407,520 (GRCm39) |
V233D |
probably damaging |
Het |
| Ddx59 |
T |
C |
1: 136,361,565 (GRCm39) |
S477P |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,353,748 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,045,835 (GRCm39) |
L453P |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,064,044 (GRCm39) |
H380R |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,669,298 (GRCm39) |
M51V |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,950,594 (GRCm39) |
M387V |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,233,302 (GRCm39) |
L1522S |
probably benign |
Het |
| Gdf9 |
T |
A |
11: 53,327,569 (GRCm39) |
M175K |
probably benign |
Het |
| Gm20547 |
C |
T |
17: 35,079,524 (GRCm39) |
D243N |
probably benign |
Het |
| Gramd1b |
T |
A |
9: 40,227,060 (GRCm39) |
D299V |
probably damaging |
Het |
| Gsg1l |
G |
T |
7: 125,522,671 (GRCm39) |
Q186K |
possibly damaging |
Het |
| H2bl1 |
A |
T |
13: 99,120,691 (GRCm39) |
F112I |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,472,648 (GRCm39) |
|
probably null |
Het |
| Kcnh5 |
A |
G |
12: 74,944,426 (GRCm39) |
L941P |
possibly damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,253 (GRCm39) |
D221G |
possibly damaging |
Het |
| Med19 |
T |
C |
2: 84,515,603 (GRCm39) |
F96L |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,936,678 (GRCm39) |
D708Y |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,753 (GRCm39) |
|
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,566 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,950,011 (GRCm39) |
C306Y |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,607,369 (GRCm39) |
K1279E |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,798,810 (GRCm39) |
T369I |
probably damaging |
Het |
| Plekha8 |
A |
G |
6: 54,592,271 (GRCm39) |
S32G |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,519,304 (GRCm39) |
Y22N |
probably benign |
Het |
| Sema4g |
A |
G |
19: 44,984,908 (GRCm39) |
T113A |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,922,562 (GRCm39) |
M546T |
probably benign |
Het |
| Slc27a5 |
A |
G |
7: 12,728,878 (GRCm39) |
V328A |
probably damaging |
Het |
| Spef1 |
T |
C |
2: 131,014,688 (GRCm39) |
N78S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,388 (GRCm39) |
T179A |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,244,547 (GRCm39) |
I475T |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,400,488 (GRCm38) |
Y621C |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,969,438 (GRCm39) |
F727L |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,088,332 (GRCm39) |
L75P |
probably damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,796 (GRCm39) |
D146E |
probably damaging |
Het |
| Usp15 |
G |
A |
10: 122,963,742 (GRCm39) |
T533I |
probably damaging |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,747 (GRCm39) |
T180A |
probably benign |
Het |
| Vmn1r205 |
G |
T |
13: 22,776,395 (GRCm39) |
P236T |
probably damaging |
Het |
| Vmn2r112 |
T |
G |
17: 22,838,013 (GRCm39) |
C825G |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,222 (GRCm39) |
I102F |
probably damaging |
Het |
|
| Other mutations in Mei1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Mei1
|
APN |
15 |
81,973,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01776:Mei1
|
APN |
15 |
81,980,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01864:Mei1
|
APN |
15 |
81,997,218 (GRCm39) |
splice site |
probably benign |
|
|
IGL02030:Mei1
|
APN |
15 |
81,999,944 (GRCm39) |
missense |
probably benign |
|
|
R0135:Mei1
|
UTSW |
15 |
81,956,170 (GRCm39) |
nonsense |
probably null |
|
|
R0212:Mei1
|
UTSW |
15 |
81,980,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0537:Mei1
|
UTSW |
15 |
81,975,562 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0605:Mei1
|
UTSW |
15 |
81,954,351 (GRCm39) |
missense |
probably benign |
|
|
R0727:Mei1
|
UTSW |
15 |
81,954,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1118:Mei1
|
UTSW |
15 |
82,000,068 (GRCm39) |
splice site |
probably benign |
|
|
R1226:Mei1
|
UTSW |
15 |
81,964,285 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1339:Mei1
|
UTSW |
15 |
81,966,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1558:Mei1
|
UTSW |
15 |
81,991,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Mei1
|
UTSW |
15 |
81,996,771 (GRCm39) |
splice site |
probably null |
|
|
R1868:Mei1
|
UTSW |
15 |
82,009,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Mei1
|
UTSW |
15 |
81,987,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1981:Mei1
|
UTSW |
15 |
81,987,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1982:Mei1
|
UTSW |
15 |
81,987,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2103:Mei1
|
UTSW |
15 |
81,991,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2103:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2207:Mei1
|
UTSW |
15 |
81,987,450 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2444:Mei1
|
UTSW |
15 |
81,997,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3009:Mei1
|
UTSW |
15 |
81,996,726 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3114:Mei1
|
UTSW |
15 |
82,009,160 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3546:Mei1
|
UTSW |
15 |
81,982,243 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3720:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3721:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3722:Mei1
|
UTSW |
15 |
81,987,405 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3752:Mei1
|
UTSW |
15 |
81,970,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3778:Mei1
|
UTSW |
15 |
81,966,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Mei1
|
UTSW |
15 |
81,997,218 (GRCm39) |
splice site |
probably benign |
|
|
R3933:Mei1
|
UTSW |
15 |
81,967,353 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4274:Mei1
|
UTSW |
15 |
82,009,064 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4765:Mei1
|
UTSW |
15 |
81,996,686 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5070:Mei1
|
UTSW |
15 |
81,961,804 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5394:Mei1
|
UTSW |
15 |
81,976,957 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6108:Mei1
|
UTSW |
15 |
81,959,389 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6302:Mei1
|
UTSW |
15 |
81,987,439 (GRCm39) |
nonsense |
probably null |
|
|
R6849:Mei1
|
UTSW |
15 |
81,964,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6913:Mei1
|
UTSW |
15 |
81,973,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6919:Mei1
|
UTSW |
15 |
81,966,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6959:Mei1
|
UTSW |
15 |
82,009,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7007:Mei1
|
UTSW |
15 |
81,978,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7202:Mei1
|
UTSW |
15 |
81,976,843 (GRCm39) |
missense |
|
|
|
R7374:Mei1
|
UTSW |
15 |
81,980,109 (GRCm39) |
missense |
|
|
|
R7438:Mei1
|
UTSW |
15 |
81,999,682 (GRCm39) |
missense |
|
|
|
R7757:Mei1
|
UTSW |
15 |
81,966,824 (GRCm39) |
intron |
probably benign |
|
|
R7857:Mei1
|
UTSW |
15 |
81,976,918 (GRCm39) |
missense |
not run |
|
|
R8265:Mei1
|
UTSW |
15 |
81,987,508 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Mei1
|
UTSW |
15 |
81,966,182 (GRCm39) |
missense |
|
|
|
R8902:Mei1
|
UTSW |
15 |
81,954,212 (GRCm39) |
missense |
unknown |
|
|
R9048:Mei1
|
UTSW |
15 |
81,969,036 (GRCm39) |
nonsense |
probably null |
|
|
R9233:Mei1
|
UTSW |
15 |
81,973,752 (GRCm39) |
missense |
|
|
|
R9285:Mei1
|
UTSW |
15 |
81,985,170 (GRCm39) |
missense |
|
|
|
R9660:Mei1
|
UTSW |
15 |
81,966,098 (GRCm39) |
missense |
|
|
|
R9689:Mei1
|
UTSW |
15 |
81,997,129 (GRCm39) |
missense |
|
|
|
R9728:Mei1
|
UTSW |
15 |
81,966,098 (GRCm39) |
missense |
|
|
|
RF051:Mei1
|
UTSW |
15 |
81,954,211 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation