Incidental Mutation 'R1980:Mei1'
ID |
222205 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mei1
|
Ensembl Gene |
ENSMUSG00000068117 |
Gene Name |
meiotic double-stranded break formation protein 1 |
Synonyms |
mei1 |
MMRRC Submission |
039992-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
R1980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81987513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 859
(N859S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
[ENSMUST00000229119]
|
AlphaFold |
Q9D4I2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089178
AA Change: N809S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086582 Gene: ENSMUSG00000068117 AA Change: N809S
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 benign
Transcript: ENSMUST00000186125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188048
AA Change: N435S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139689 Gene: ENSMUSG00000068117 AA Change: N435S
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 benign
Transcript: ENSMUST00000189540
AA Change: N435S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140479 Gene: ENSMUSG00000068117 AA Change: N435S
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 benign
Transcript: ENSMUST00000229119
AA Change: N859S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
C |
11: 100,386,702 (GRCm39) |
I620S |
possibly damaging |
Het |
Acot8 |
A |
G |
2: 164,636,964 (GRCm39) |
F262S |
probably damaging |
Het |
Adgb |
C |
T |
10: 10,309,242 (GRCm39) |
V246I |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,022,771 (GRCm39) |
M1200K |
probably damaging |
Het |
Alg11 |
T |
A |
8: 22,551,903 (GRCm39) |
F16I |
possibly damaging |
Het |
Apol7c |
A |
G |
15: 77,410,244 (GRCm39) |
V234A |
probably benign |
Het |
Arhgap19 |
T |
G |
19: 41,776,784 (GRCm39) |
I122L |
possibly damaging |
Het |
Arhgef37 |
A |
G |
18: 61,641,767 (GRCm39) |
S201P |
probably damaging |
Het |
Asgr1 |
A |
T |
11: 69,945,772 (GRCm39) |
D16V |
probably damaging |
Het |
Camta2 |
A |
T |
11: 70,573,308 (GRCm39) |
C227S |
probably benign |
Het |
Cd22 |
A |
T |
7: 30,572,658 (GRCm39) |
L317Q |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,386,112 (GRCm39) |
I2056K |
probably benign |
Het |
Cenpi |
T |
A |
X: 133,218,782 (GRCm39) |
F161L |
possibly damaging |
Het |
Ciapin1 |
C |
T |
8: 95,559,161 (GRCm39) |
V43I |
probably benign |
Het |
Cox5b-ps |
T |
G |
13: 21,685,294 (GRCm39) |
T99P |
possibly damaging |
Het |
Dach1 |
A |
G |
14: 98,068,777 (GRCm39) |
L601P |
probably damaging |
Het |
Ddx11 |
T |
A |
17: 66,455,734 (GRCm39) |
L711Q |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,471,707 (GRCm39) |
N653I |
probably damaging |
Het |
Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
Galnt5 |
T |
C |
2: 57,914,735 (GRCm39) |
|
probably null |
Het |
Gemin5 |
A |
G |
11: 58,027,743 (GRCm39) |
L935P |
probably damaging |
Het |
Gm9507 |
A |
T |
10: 77,647,519 (GRCm39) |
C53* |
probably null |
Het |
Irgm2 |
A |
G |
11: 58,110,902 (GRCm39) |
I198V |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klf12 |
A |
C |
14: 100,387,162 (GRCm39) |
|
probably null |
Het |
Lpp |
C |
T |
16: 24,480,451 (GRCm39) |
P73L |
probably damaging |
Het |
Lrrc34 |
G |
A |
3: 30,696,890 (GRCm39) |
H127Y |
probably benign |
Het |
Lyar |
T |
C |
5: 38,382,053 (GRCm39) |
S12P |
probably damaging |
Het |
Maml3 |
A |
G |
3: 52,011,473 (GRCm39) |
I31T |
unknown |
Het |
Minar2 |
T |
A |
18: 59,208,739 (GRCm39) |
M129K |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,840,450 (GRCm39) |
N655K |
probably benign |
Het |
Npnt |
T |
C |
3: 132,653,893 (GRCm39) |
I29M |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,395,746 (GRCm39) |
W137R |
probably benign |
Het |
Numb |
C |
T |
12: 83,844,118 (GRCm39) |
|
probably null |
Het |
Obsl1 |
A |
G |
1: 75,482,480 (GRCm39) |
F130S |
probably damaging |
Het |
Or2h1 |
T |
G |
17: 37,404,295 (GRCm39) |
Q157P |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
Pbx4 |
T |
C |
8: 70,322,776 (GRCm39) |
V294A |
probably benign |
Het |
Pde4dip |
A |
C |
3: 97,664,312 (GRCm39) |
L524R |
possibly damaging |
Het |
Plppr1 |
G |
A |
4: 49,337,655 (GRCm39) |
A319T |
probably benign |
Het |
Ppid |
A |
T |
3: 79,500,925 (GRCm39) |
I32F |
probably damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
Prr27 |
A |
G |
5: 87,991,261 (GRCm39) |
E291G |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,782,615 (GRCm39) |
K923N |
possibly damaging |
Het |
Rab25 |
T |
C |
3: 88,450,765 (GRCm39) |
T45A |
probably damaging |
Het |
Rapgef1 |
C |
T |
2: 29,612,239 (GRCm39) |
P630S |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,452,821 (GRCm39) |
D355G |
probably damaging |
Het |
Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
Rtn4 |
A |
T |
11: 29,658,634 (GRCm39) |
E929D |
probably benign |
Het |
Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
Slk |
T |
G |
19: 47,600,428 (GRCm39) |
I151S |
probably damaging |
Het |
Spin1 |
T |
A |
13: 51,298,506 (GRCm39) |
V175D |
probably damaging |
Het |
Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
Tmem151b |
G |
C |
17: 45,856,387 (GRCm39) |
P351R |
possibly damaging |
Het |
Tmod1 |
A |
C |
4: 46,061,043 (GRCm39) |
Y10S |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpm1 |
T |
C |
7: 63,858,182 (GRCm39) |
Y225H |
possibly damaging |
Het |
Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
Tyro3 |
A |
G |
2: 119,639,298 (GRCm39) |
D335G |
probably benign |
Het |
Unc79 |
C |
A |
12: 102,977,538 (GRCm39) |
Y180* |
probably null |
Het |
Upp1 |
A |
T |
11: 9,084,872 (GRCm39) |
D197V |
possibly damaging |
Het |
Vmn1r226 |
T |
A |
17: 20,908,308 (GRCm39) |
M180K |
possibly damaging |
Het |
Vtn |
T |
A |
11: 78,392,724 (GRCm39) |
I434N |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,265,885 (GRCm39) |
T47A |
probably benign |
Het |
Zyg11b |
G |
A |
4: 108,123,127 (GRCm39) |
T280I |
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 |
|
IGL02148:Mei1
|
APN |
15 |
81,976,912 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCGTGATCAGTGCAATCAG -3'
(R):5'- TTAGCAGGGCCTACACTCAC -3'
Sequencing Primer
(F):5'- CGTGATCAGTGCAATCAGAAAGTTCC -3'
(R):5'- CTGGGATACTGGTATGCATCACC -3'
|
Posted On |
2014-08-25 |