Incidental Mutation 'R8902:Mei1'
| ID |
678266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mei1
|
| Ensembl Gene |
ENSMUSG00000068117 |
| Gene Name |
meiotic double-stranded break formation protein 1 |
| Synonyms |
mei1 |
| MMRRC Submission |
068759-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R8902 (G1)
|
| Quality Score |
83.0076 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81954275-82011018 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 81954212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 6
(R6S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089178]
[ENSMUST00000100396]
[ENSMUST00000229119]
|
| AlphaFold |
Q9D4I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089178
|
| SMART Domains |
Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117
| 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: ENSMUST00000100396
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4727
|
25 |
234 |
1.1e-109 |
PFAM |
|
internal_repeat_1
|
321 |
406 |
9.89e-8 |
PROSPERO |
|
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
593 |
707 |
6.03e-6 |
PROSPERO |
|
low complexity region
|
735 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
842 |
958 |
6.03e-6 |
PROSPERO |
|
internal_repeat_1
|
876 |
962 |
9.89e-8 |
PROSPERO |
|
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1133 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1199 |
1208 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1282 |
1296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229119
AA Change: R6S
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
T |
4: 155,990,371 (GRCm39) |
R819L |
possibly damaging |
Het |
| App |
A |
G |
16: 84,876,767 (GRCm39) |
V208A |
unknown |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,204 (GRCm39) |
E168K |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,349,632 (GRCm39) |
M757I |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
| Ccdc92 |
C |
T |
5: 124,912,705 (GRCm39) |
A275T |
possibly damaging |
Het |
| Ccr4 |
T |
A |
9: 114,325,620 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
C |
T |
5: 25,722,908 (GRCm39) |
T541I |
probably benign |
Het |
| Chrng |
G |
T |
1: 87,138,397 (GRCm39) |
R396L |
possibly damaging |
Het |
| Cmip |
A |
G |
8: 118,103,925 (GRCm39) |
T50A |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,434,486 (GRCm39) |
S91I |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,890,225 (GRCm39) |
L514P |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,690,499 (GRCm39) |
M191K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,175 (GRCm39) |
S408P |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,896 (GRCm39) |
E726G |
probably damaging |
Het |
| Fpr2 |
T |
C |
17: 18,113,190 (GRCm39) |
I62T |
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,848 (GRCm39) |
Q638* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,285 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,278,720 (GRCm39) |
N637S |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,937 (GRCm39) |
E751G |
possibly damaging |
Het |
| Ifnb1 |
G |
T |
4: 88,440,547 (GRCm39) |
N155K |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,065,365 (GRCm39) |
T509K |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,243,633 (GRCm39) |
M234V |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,818,711 (GRCm39) |
A682T |
probably benign |
Het |
| Ireb2 |
T |
G |
9: 54,799,786 (GRCm39) |
M409R |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,719,629 (GRCm39) |
T1327I |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,630 (GRCm39) |
S7P |
unknown |
Het |
| Lelp1 |
A |
T |
3: 92,042,978 (GRCm39) |
C24S |
unknown |
Het |
| Malrd1 |
A |
T |
2: 16,260,145 (GRCm39) |
K2122* |
probably null |
Het |
| Meis3 |
T |
A |
7: 15,911,887 (GRCm39) |
I119N |
probably benign |
Het |
| Mmp20 |
T |
C |
9: 7,639,288 (GRCm39) |
V152A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,233,791 (GRCm39) |
I797F |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,741,820 (GRCm39) |
E439K |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,222 (GRCm39) |
A3439S |
probably damaging |
Het |
| Nfe2l1 |
T |
A |
11: 96,708,620 (GRCm39) |
D715V |
unknown |
Het |
| Obscn |
C |
A |
11: 59,026,762 (GRCm39) |
R147L |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,162,101 (GRCm39) |
M206K |
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,105,383 (GRCm39) |
I37F |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,206 (GRCm39) |
T278S |
probably benign |
Het |
| Or4e5 |
G |
A |
14: 52,728,010 (GRCm39) |
T137I |
probably benign |
Het |
| Or5d38 |
A |
G |
2: 87,954,778 (GRCm39) |
S184P |
probably damaging |
Het |
| Plg |
T |
A |
17: 12,629,790 (GRCm39) |
F608Y |
probably benign |
Het |
| Plppr1 |
C |
A |
4: 49,319,836 (GRCm39) |
P154Q |
probably damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,500,570 (GRCm39) |
K441R |
probably benign |
Het |
| Prkaca |
T |
C |
8: 84,703,714 (GRCm39) |
S5P |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,041,420 (GRCm39) |
K69R |
probably benign |
Het |
| Rbpms2 |
T |
C |
9: 65,558,351 (GRCm39) |
I129T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,865,117 (GRCm39) |
N176K |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,890,796 (GRCm39) |
H117Y |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,685 (GRCm39) |
C355S |
probably benign |
Het |
| Stpg2 |
T |
A |
3: 139,004,170 (GRCm39) |
V249E |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,391 (GRCm39) |
V414A |
possibly damaging |
Het |
| Tiam2 |
T |
C |
17: 3,527,471 (GRCm39) |
I1050T |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,848,046 (GRCm39) |
I1134N |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,342,761 (GRCm39) |
E293G |
|
Het |
| Ttc41 |
C |
A |
10: 86,548,865 (GRCm39) |
R20S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,571,133 (GRCm39) |
V26587M |
probably damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,608,270 (GRCm39) |
K523R |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,830 (GRCm39) |
C1124R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,175,281 (GRCm39) |
N1126K |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,165,840 (GRCm39) |
L326Q |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,713,307 (GRCm39) |
M120T |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,761 (GRCm39) |
D162G |
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 |
|
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 |
|
|
|
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'- GGAGCAGTCCTGTCTCAGTCT -3'
(R):5'- CATCTCTCCCAAACGCGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CCAAACGCGGGATGGTCAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation