Incidental Mutation 'R8265:Mei1'
| ID |
639696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mei1
|
| Ensembl Gene |
ENSMUSG00000068117 |
| Gene Name |
meiotic double-stranded break formation protein 1 |
| Synonyms |
mei1 |
| MMRRC Submission |
067690-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R8265 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 81987508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 433
(Y433*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
|
| AlphaFold |
Q9D4I2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089178
AA Change: Y807*
|
| SMART Domains |
Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: Y807*
| 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 null
Transcript: ENSMUST00000188048
AA Change: Y433*
|
| SMART Domains |
Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
AA Change: Y433*
| 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: Y433*
|
| SMART Domains |
Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
AA Change: Y433*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
A |
G |
19: 3,766,568 (GRCm39) |
T52A |
probably benign |
Het |
| Adam9 |
T |
C |
8: 25,457,202 (GRCm39) |
Y642C |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,347,315 (GRCm39) |
E47G |
probably benign |
Het |
| Btbd9 |
T |
A |
17: 30,553,278 (GRCm39) |
T395S |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,364 (GRCm39) |
W800* |
probably null |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
G |
A |
7: 19,708,159 (GRCm39) |
V255M |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,126,236 (GRCm39) |
L1610M |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,222,426 (GRCm39) |
T729A |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,735,824 (GRCm39) |
V407E |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,217,603 (GRCm39) |
K1348E |
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,027,977 (GRCm39) |
S302T |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,299 (GRCm39) |
E31G |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Herc1 |
C |
T |
9: 66,293,986 (GRCm39) |
Q443* |
probably null |
Het |
| Hmgxb3 |
A |
G |
18: 61,300,410 (GRCm39) |
V222A |
possibly damaging |
Het |
| Hnrnpu |
A |
T |
1: 178,159,725 (GRCm39) |
I452N |
unknown |
Het |
| Ints1 |
C |
G |
5: 139,757,919 (GRCm39) |
D260H |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,383,557 (GRCm39) |
M766K |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,981,200 (GRCm39) |
C1720Y |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,654,711 (GRCm39) |
K188E |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,734,604 (GRCm39) |
F630S |
probably benign |
Het |
| Myoz2 |
A |
G |
3: 122,800,172 (GRCm39) |
F219L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,107,953 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or51f1e |
A |
G |
7: 102,747,304 (GRCm39) |
T119A |
probably benign |
Het |
| Or51v14 |
A |
T |
7: 103,261,048 (GRCm39) |
C171S |
possibly damaging |
Het |
| Or8b42 |
T |
C |
9: 38,342,469 (GRCm39) |
V297A |
probably damaging |
Het |
| Pi16 |
A |
G |
17: 29,545,947 (GRCm39) |
T242A |
probably benign |
Het |
| Pigw |
C |
A |
11: 84,770,847 (GRCm39) |
|
probably benign |
Het |
| Pipox |
T |
A |
11: 77,774,793 (GRCm39) |
T97S |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,625 (GRCm39) |
A631E |
unknown |
Het |
| Poteg |
T |
A |
8: 27,984,923 (GRCm39) |
H427Q |
possibly damaging |
Het |
| Prdm14 |
A |
G |
1: 13,184,618 (GRCm39) |
S518P |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,043,423 (GRCm39) |
E441G |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,614,794 (GRCm39) |
|
probably null |
Het |
| Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
| Sidt1 |
C |
A |
16: 44,088,250 (GRCm39) |
R381M |
possibly damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Srsf5 |
A |
G |
12: 80,994,110 (GRCm39) |
D51G |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,952,839 (GRCm39) |
S148T |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,938,426 (GRCm39) |
S149P |
probably damaging |
Het |
| Trafd1 |
T |
A |
5: 121,511,340 (GRCm39) |
I493F |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,722,344 (GRCm39) |
S289L |
possibly damaging |
Het |
| Zfp267 |
T |
C |
3: 36,213,677 (GRCm39) |
|
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
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 |
|
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 |
|
|
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'- AGGCCGTGATCAGTGCAATC -3'
(R):5'- AGTTAGCAGGGCCTACACTCAC -3'
Sequencing Primer
(F):5'- CGTGATCAGTGCAATCAGAAAGTTCC -3'
(R):5'- CTGGGATACTGGTATGCATCACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation