Incidental Mutation 'R3752:Mei1'
ID |
271274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mei1
|
Ensembl Gene |
ENSMUSG00000068117 |
Gene Name |
meiotic double-stranded break formation protein 1 |
Synonyms |
mei1 |
MMRRC Submission |
040737-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.351)
|
Stock # |
R3752 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81970383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 428
(T428M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
[ENSMUST00000229119]
|
AlphaFold |
Q9D4I2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089178
AA Change: T378M
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000086582 Gene: ENSMUSG00000068117 AA Change: T378M
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 |
possibly damaging
Transcript: ENSMUST00000186125
AA Change: T4M
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188048
AA Change: T4M
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139689 Gene: ENSMUSG00000068117 AA Change: T4M
Domain | Start | End | E-Value | Type |
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189540
AA Change: T4M
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140479 Gene: ENSMUSG00000068117 AA Change: T4M
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 damaging
Transcript: ENSMUST00000229119
AA Change: T428M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (49/49) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,588,904 (GRCm39) |
I107N |
probably damaging |
Het |
Adh1 |
G |
A |
3: 137,994,555 (GRCm39) |
V292I |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
Cep170 |
A |
G |
1: 176,610,061 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,458,215 (GRCm39) |
P1120S |
probably damaging |
Het |
Cramp1 |
A |
T |
17: 25,190,532 (GRCm39) |
N1067K |
probably damaging |
Het |
Dhrs7c |
A |
G |
11: 67,702,281 (GRCm39) |
T90A |
probably damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Eml6 |
C |
A |
11: 29,759,360 (GRCm39) |
V798F |
probably benign |
Het |
Ext1 |
A |
T |
15: 52,939,306 (GRCm39) |
V581E |
probably damaging |
Het |
Fbf1 |
C |
T |
11: 116,038,622 (GRCm39) |
R833Q |
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
Gm10521 |
A |
G |
1: 171,723,712 (GRCm39) |
T8A |
unknown |
Het |
Hapln4 |
A |
T |
8: 70,539,615 (GRCm39) |
L215F |
probably damaging |
Het |
Hmgcr |
T |
C |
13: 96,799,624 (GRCm39) |
I157V |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,640,086 (GRCm39) |
C1700S |
probably damaging |
Het |
Lama5 |
C |
T |
2: 179,829,015 (GRCm39) |
C2042Y |
probably damaging |
Het |
Lrrc9 |
T |
G |
12: 72,507,580 (GRCm39) |
Y360* |
probably null |
Het |
Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
Mdc1 |
C |
T |
17: 36,156,821 (GRCm39) |
A76V |
probably damaging |
Het |
Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
Nobox |
T |
G |
6: 43,284,167 (GRCm39) |
K126N |
probably damaging |
Het |
Ogn |
C |
T |
13: 49,776,307 (GRCm39) |
L249F |
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,406,057 (GRCm39) |
I210V |
probably benign |
Het |
Or6a2 |
A |
T |
7: 106,600,682 (GRCm39) |
Y128* |
probably null |
Het |
Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
Pcdhb15 |
T |
A |
18: 37,606,810 (GRCm39) |
V14E |
probably damaging |
Het |
Perm1 |
A |
T |
4: 156,302,403 (GRCm39) |
I316L |
probably benign |
Het |
Plxnb2 |
G |
A |
15: 89,041,458 (GRCm39) |
|
probably benign |
Het |
Rab3il1 |
A |
T |
19: 10,007,841 (GRCm39) |
T227S |
probably benign |
Het |
Rag2 |
A |
T |
2: 101,461,121 (GRCm39) |
Y477F |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,263,551 (GRCm39) |
V722E |
possibly damaging |
Het |
Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,067,959 (GRCm39) |
V565A |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,700,096 (GRCm39) |
|
probably benign |
Het |
Slc47a1 |
C |
T |
11: 61,235,207 (GRCm39) |
R542Q |
possibly damaging |
Het |
Slc6a5 |
T |
C |
7: 49,586,062 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
A |
2: 167,299,272 (GRCm39) |
H215N |
probably benign |
Het |
Slit1 |
C |
T |
19: 41,635,406 (GRCm39) |
|
probably null |
Het |
Snx1 |
A |
T |
9: 66,012,933 (GRCm39) |
|
probably null |
Het |
Tbc1d30 |
T |
A |
10: 121,108,073 (GRCm39) |
N443I |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,061,443 (GRCm39) |
M565K |
probably benign |
Het |
Traf3ip1 |
T |
C |
1: 91,428,639 (GRCm39) |
|
probably benign |
Het |
Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
Vldlr |
G |
A |
19: 27,215,731 (GRCm39) |
E243K |
probably damaging |
Het |
Vps35 |
A |
G |
8: 86,001,460 (GRCm39) |
S453P |
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,784,249 (GRCm39) |
V766A |
probably benign |
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 |
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 |
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'- ATAGCCCCAGTCTCATGGCATC -3'
(R):5'- GTGAACAGCCTGATCTCCTCTG -3'
Sequencing Primer
(F):5'- ATCAGTTCAGGAGTTCAGCC -3'
(R):5'- CCTTTGCTTACCGAGTCA -3'
|
Posted On |
2015-03-18 |