Incidental Mutation 'R0533:Morc2b'
| ID |
49348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Morc2b
|
| Ensembl Gene |
ENSMUSG00000048602 |
| Gene Name |
microrchidia 2B |
| Synonyms |
4932411A10Rik |
| MMRRC Submission |
038725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R0533 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to C
at 33354906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 955
(Y955*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
| AlphaFold |
Q8C5W4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053896
AA Change: Y955*
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: Y955*
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.78e0 |
SMART |
|
coiled coil region
|
285 |
321 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
495 |
541 |
1.9e-16 |
PFAM |
|
coiled coil region
|
555 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1001 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131954
AA Change: Y955*
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: Y955*
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
24 |
134 |
5.78e0 |
SMART |
|
coiled coil region
|
285 |
321 |
N/A |
INTRINSIC |
|
Pfam:zf-CW
|
494 |
543 |
7.7e-18 |
PFAM |
|
coiled coil region
|
555 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
695 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
1001 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
G |
8: 60,984,797 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,914,113 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,391,592 (GRCm39) |
N1283S |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,413,408 (GRCm39) |
W531R |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,410,653 (GRCm39) |
V246A |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,021,863 (GRCm39) |
D242E |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,955,573 (GRCm39) |
V522A |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,712,632 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
C |
7: 28,587,108 (GRCm39) |
F359S |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,920,541 (GRCm39) |
I360N |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,150 (GRCm39) |
Y99C |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,336,713 (GRCm39) |
E925G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,314 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,001,363 (GRCm39) |
V860A |
possibly damaging |
Het |
| Etv5 |
C |
T |
16: 22,254,825 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
T |
A |
15: 57,873,207 (GRCm39) |
N345K |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,508,409 (GRCm39) |
|
probably null |
Het |
| Grid1 |
T |
A |
14: 35,031,342 (GRCm39) |
Y312N |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,950,841 (GRCm39) |
N51S |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,239,635 (GRCm39) |
I765N |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,600,816 (GRCm39) |
V518A |
unknown |
Het |
| Itgb6 |
A |
G |
2: 60,499,541 (GRCm39) |
V84A |
probably benign |
Het |
| Kbtbd4 |
A |
G |
2: 90,737,948 (GRCm39) |
K233E |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,838,498 (GRCm39) |
|
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,560,156 (GRCm39) |
S143P |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,359,270 (GRCm39) |
D216G |
probably benign |
Het |
| Mctp2 |
G |
T |
7: 71,730,570 (GRCm39) |
H868Q |
probably benign |
Het |
| Myog |
A |
C |
1: 134,218,211 (GRCm39) |
N140H |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,091,810 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,321,273 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,591,182 (GRCm39) |
L43* |
probably null |
Het |
| Or56a3b |
G |
A |
7: 104,771,557 (GRCm39) |
V298I |
probably benign |
Het |
| Or56b35 |
A |
T |
7: 104,963,579 (GRCm39) |
M123L |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,290 (GRCm39) |
D96E |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,424,590 (GRCm39) |
C284* |
probably null |
Het |
| Ptger2 |
T |
A |
14: 45,226,439 (GRCm39) |
N6K |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,778,205 (GRCm39) |
E2097V |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,786,868 (GRCm39) |
F397Y |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,685,064 (GRCm39) |
V551A |
unknown |
Het |
| Slc39a12 |
A |
G |
2: 14,405,142 (GRCm39) |
T245A |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,308,438 (GRCm39) |
V706I |
probably benign |
Het |
| Tbc1d8 |
G |
T |
1: 39,411,855 (GRCm39) |
Q994K |
possibly damaging |
Het |
| Tnrc6b |
C |
T |
15: 80,760,854 (GRCm39) |
T187I |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,045,582 (GRCm39) |
A600T |
probably benign |
Het |
| Ust |
T |
C |
10: 8,123,844 (GRCm39) |
|
probably benign |
Het |
| Vmn2r71 |
GT |
GTT |
7: 85,268,426 (GRCm39) |
|
probably null |
Het |
| Vstm2a |
C |
T |
11: 16,213,041 (GRCm39) |
A142V |
probably damaging |
Het |
| Wfs1 |
T |
A |
5: 37,131,066 (GRCm39) |
|
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,236,106 (GRCm39) |
G145D |
probably damaging |
Het |
| Wrap73 |
G |
A |
4: 154,240,611 (GRCm39) |
V368M |
possibly damaging |
Het |
| Xrra1 |
T |
A |
7: 99,524,352 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
C |
T |
14: 55,301,547 (GRCm39) |
V2146I |
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,749,842 (GRCm39) |
L185* |
probably null |
Het |
|
| Other mutations in Morc2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Morc2b
|
APN |
17 |
33,356,293 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01369:Morc2b
|
APN |
17 |
33,357,139 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01533:Morc2b
|
APN |
17 |
33,354,695 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02003:Morc2b
|
APN |
17 |
33,357,298 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02028:Morc2b
|
APN |
17 |
33,356,387 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02152:Morc2b
|
APN |
17 |
33,356,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Morc2b
|
APN |
17 |
33,356,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Morc2b
|
APN |
17 |
33,356,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03293:Morc2b
|
APN |
17 |
33,357,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
twinkle
|
UTSW |
17 |
33,354,906 (GRCm39) |
nonsense |
probably null |
|
|
PIT4283001:Morc2b
|
UTSW |
17 |
33,355,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Morc2b
|
UTSW |
17 |
33,357,733 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0116:Morc2b
|
UTSW |
17 |
33,356,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Morc2b
|
UTSW |
17 |
33,355,956 (GRCm39) |
nonsense |
probably null |
|
|
R0556:Morc2b
|
UTSW |
17 |
33,356,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0629:Morc2b
|
UTSW |
17 |
33,354,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0635:Morc2b
|
UTSW |
17 |
33,356,661 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0840:Morc2b
|
UTSW |
17 |
33,355,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1205:Morc2b
|
UTSW |
17 |
33,354,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Morc2b
|
UTSW |
17 |
33,355,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1676:Morc2b
|
UTSW |
17 |
33,354,955 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1892:Morc2b
|
UTSW |
17 |
33,354,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Morc2b
|
UTSW |
17 |
33,356,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Morc2b
|
UTSW |
17 |
33,356,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Morc2b
|
UTSW |
17 |
33,356,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Morc2b
|
UTSW |
17 |
33,355,734 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3609:Morc2b
|
UTSW |
17 |
33,355,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3610:Morc2b
|
UTSW |
17 |
33,355,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Morc2b
|
UTSW |
17 |
33,356,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4156:Morc2b
|
UTSW |
17 |
33,357,401 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4243:Morc2b
|
UTSW |
17 |
33,355,375 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Morc2b
|
UTSW |
17 |
33,357,712 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4911:Morc2b
|
UTSW |
17 |
33,356,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Morc2b
|
UTSW |
17 |
33,355,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5264:Morc2b
|
UTSW |
17 |
33,357,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5326:Morc2b
|
UTSW |
17 |
33,355,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5455:Morc2b
|
UTSW |
17 |
33,357,584 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5933:Morc2b
|
UTSW |
17 |
33,357,583 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5973:Morc2b
|
UTSW |
17 |
33,356,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6026:Morc2b
|
UTSW |
17 |
33,356,957 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6113:Morc2b
|
UTSW |
17 |
33,357,042 (GRCm39) |
nonsense |
probably null |
|
|
R6393:Morc2b
|
UTSW |
17 |
33,356,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7066:Morc2b
|
UTSW |
17 |
33,355,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7117:Morc2b
|
UTSW |
17 |
33,356,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7120:Morc2b
|
UTSW |
17 |
33,354,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Morc2b
|
UTSW |
17 |
33,355,262 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7498:Morc2b
|
UTSW |
17 |
33,356,833 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7516:Morc2b
|
UTSW |
17 |
33,356,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7664:Morc2b
|
UTSW |
17 |
33,355,376 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7754:Morc2b
|
UTSW |
17 |
33,356,218 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7756:Morc2b
|
UTSW |
17 |
33,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Morc2b
|
UTSW |
17 |
33,355,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Morc2b
|
UTSW |
17 |
33,357,397 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7957:Morc2b
|
UTSW |
17 |
33,354,747 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7965:Morc2b
|
UTSW |
17 |
33,354,746 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8164:Morc2b
|
UTSW |
17 |
33,357,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8283:Morc2b
|
UTSW |
17 |
33,355,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8338:Morc2b
|
UTSW |
17 |
33,355,387 (GRCm39) |
missense |
probably benign |
|
|
R8349:Morc2b
|
UTSW |
17 |
33,355,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8352:Morc2b
|
UTSW |
17 |
33,356,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Morc2b
|
UTSW |
17 |
33,357,295 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8364:Morc2b
|
UTSW |
17 |
33,357,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8449:Morc2b
|
UTSW |
17 |
33,355,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8452:Morc2b
|
UTSW |
17 |
33,356,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Morc2b
|
UTSW |
17 |
33,354,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8844:Morc2b
|
UTSW |
17 |
33,354,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Morc2b
|
UTSW |
17 |
33,354,997 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9571:Morc2b
|
UTSW |
17 |
33,355,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Morc2b
|
UTSW |
17 |
33,355,060 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1177:Morc2b
|
UTSW |
17 |
33,356,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCATCTAGCTCATCATCTGCCC -3'
(R):5'- GAATGCTTCTGCACTGAACCCGAC -3'
Sequencing Primer
(F):5'- CTGATGTTTATGCCCTGCTGAG -3'
(R):5'- ACAAGACCATTGACCTCTTGG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation