Incidental Mutation 'R3778:Mei1'
| ID |
271933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mei1
|
| Ensembl Gene |
ENSMUSG00000068117 |
| Gene Name |
meiotic double-stranded break formation protein 1 |
| Synonyms |
mei1 |
| MMRRC Submission |
040750-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R3778 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81966209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 277
(L277P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
[ENSMUST00000229119]
|
| AlphaFold |
Q9D4I2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089178
AA Change: L277P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
AA Change: L277P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117
| 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: L327P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,618,846 (GRCm39) |
L769H |
probably damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,696,675 (GRCm39) |
M106K |
possibly damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,332,220 (GRCm39) |
P442Q |
probably damaging |
Het |
| Aox1 |
A |
C |
1: 58,092,862 (GRCm39) |
D158A |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,446,134 (GRCm39) |
N976S |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,206 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
T |
16: 26,190,216 (GRCm39) |
C54Y |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,845,541 (GRCm39) |
I407N |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,822 (GRCm39) |
V20A |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,159,006 (GRCm39) |
C2253Y |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,037,435 (GRCm39) |
T383S |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,915,353 (GRCm38) |
V1495I |
probably benign |
Het |
| Fscn3 |
A |
C |
6: 28,430,031 (GRCm39) |
K67T |
possibly damaging |
Het |
| Gls |
A |
G |
1: 52,208,071 (GRCm39) |
V571A |
probably benign |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm4871 |
A |
G |
5: 144,966,893 (GRCm39) |
S197P |
probably damaging |
Het |
| Gm7104 |
A |
T |
12: 88,252,441 (GRCm39) |
|
noncoding transcript |
Het |
| Gp9 |
A |
T |
6: 87,755,987 (GRCm39) |
M1L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,469,444 (GRCm39) |
L153H |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,926,708 (GRCm39) |
|
probably null |
Het |
| Hadha |
A |
T |
5: 30,325,127 (GRCm39) |
C688S |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,678,575 (GRCm39) |
D515E |
possibly damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,847 (GRCm39) |
V230E |
possibly damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,314,446 (GRCm39) |
D632G |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,365,277 (GRCm39) |
I625T |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,339,548 (GRCm39) |
M1121K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,434,721 (GRCm39) |
I2241F |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,702,128 (GRCm39) |
T461M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,115 (GRCm39) |
S440P |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,939 (GRCm39) |
S2201P |
probably damaging |
Het |
| Or10c1 |
T |
C |
17: 37,522,649 (GRCm39) |
T32A |
probably benign |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Pard6g |
A |
T |
18: 80,123,038 (GRCm39) |
|
probably null |
Het |
| Pask |
T |
A |
1: 93,255,189 (GRCm39) |
I294F |
probably damaging |
Het |
| Pax9 |
A |
G |
12: 56,743,533 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 73,782,983 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Ppm1e |
T |
C |
11: 87,139,754 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Sec24c |
A |
G |
14: 20,733,375 (GRCm39) |
Q234R |
possibly damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,786,295 (GRCm39) |
N602K |
probably benign |
Het |
| Sirt5 |
A |
G |
13: 43,536,583 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
T |
C |
4: 139,026,293 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tmem235 |
A |
T |
11: 117,753,126 (GRCm39) |
H83L |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,036,636 (GRCm39) |
V861A |
possibly damaging |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
A |
C |
1: 74,821,941 (GRCm39) |
D174A |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 115,601,347 (GRCm39) |
C355R |
probably benign |
Het |
| Zfp229 |
A |
T |
17: 21,964,183 (GRCm39) |
T138S |
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 |
|
R3752:Mei1
|
UTSW |
15 |
81,970,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TCTCTCAGGGGATGTCTGACTG -3'
(R):5'- GTCCCGTCAAAACTTGGTTGG -3'
Sequencing Primer
(F):5'- TGACTGCCGACTGTCGAGAATG -3'
(R):5'- CAAAACTTGGTTGGTTGGTTTTGCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation