Incidental Mutation 'IGL02341:Morc2b'
ID |
289064 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Morc2b
|
Ensembl Gene |
ENSMUSG00000048602 |
Gene Name |
microrchidia 2B |
Synonyms |
4932411A10Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
IGL02341
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33356281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 497
(I497K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
AlphaFold |
Q8C5W4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053896
AA Change: I497K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056879 Gene: ENSMUSG00000048602 AA Change: I497K
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 damaging
Transcript: ENSMUST00000131954
AA Change: I497K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123354 Gene: ENSMUSG00000048602 AA Change: I497K
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 |
Arid2 |
C |
T |
15: 96,270,066 (GRCm39) |
S1393L |
probably benign |
Het |
Bahcc1 |
T |
A |
11: 120,163,346 (GRCm39) |
I548N |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,467,290 (GRCm39) |
L405Q |
possibly damaging |
Het |
Cacna1g |
T |
G |
11: 94,352,978 (GRCm39) |
Q349P |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,213,978 (GRCm39) |
T184A |
possibly damaging |
Het |
Ccdc63 |
A |
G |
5: 122,251,261 (GRCm39) |
I383T |
probably benign |
Het |
Ccnk |
A |
G |
12: 108,161,989 (GRCm39) |
E298G |
unknown |
Het |
Ccnt1 |
T |
C |
15: 98,444,664 (GRCm39) |
E223G |
possibly damaging |
Het |
Clcc1 |
T |
A |
3: 108,580,699 (GRCm39) |
L333I |
possibly damaging |
Het |
Cyp2b10 |
G |
A |
7: 25,610,667 (GRCm39) |
R59Q |
probably benign |
Het |
Cyp3a41b |
T |
A |
5: 145,510,461 (GRCm39) |
T138S |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnah8 |
A |
T |
17: 30,966,231 (GRCm39) |
I2474F |
probably damaging |
Het |
Dok1 |
T |
C |
6: 83,010,035 (GRCm39) |
T25A |
probably damaging |
Het |
Ears2 |
G |
A |
7: 121,638,987 (GRCm39) |
A479V |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,571,934 (GRCm39) |
I981F |
possibly damaging |
Het |
Gm8730 |
A |
G |
8: 103,591,775 (GRCm39) |
|
noncoding transcript |
Het |
Gm9962 |
C |
T |
7: 57,037,042 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
T |
8: 107,600,637 (GRCm39) |
Y33F |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,120,159 (GRCm39) |
S607P |
possibly damaging |
Het |
Hlcs |
T |
A |
16: 94,031,969 (GRCm39) |
I612F |
probably damaging |
Het |
Llgl2 |
T |
A |
11: 115,741,946 (GRCm39) |
S663T |
possibly damaging |
Het |
Lrriq1 |
T |
C |
10: 103,060,802 (GRCm39) |
H100R |
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,656 (GRCm39) |
S17G |
possibly damaging |
Het |
Magi2 |
T |
A |
5: 20,671,201 (GRCm39) |
I678N |
probably damaging |
Het |
Megf11 |
G |
A |
9: 64,451,902 (GRCm39) |
G109S |
probably damaging |
Het |
Mybpc2 |
A |
C |
7: 44,164,354 (GRCm39) |
S404A |
probably benign |
Het |
Mylip |
A |
G |
13: 45,544,752 (GRCm39) |
R59G |
probably damaging |
Het |
Mylk3 |
A |
T |
8: 86,078,601 (GRCm39) |
I501N |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,778,871 (GRCm39) |
|
probably benign |
Het |
Nat2 |
A |
G |
8: 67,954,370 (GRCm39) |
Y160C |
possibly damaging |
Het |
Nf1 |
C |
T |
11: 79,455,752 (GRCm39) |
A2554V |
probably benign |
Het |
Niban3 |
A |
T |
8: 72,056,443 (GRCm39) |
N381I |
possibly damaging |
Het |
Ninl |
A |
T |
2: 150,786,525 (GRCm39) |
C153* |
probably null |
Het |
Nlrp5 |
C |
T |
7: 23,103,577 (GRCm39) |
R15C |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,639,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
A |
11: 59,026,651 (GRCm39) |
R184L |
probably benign |
Het |
Or6c202 |
T |
A |
10: 128,996,302 (GRCm39) |
I184F |
probably benign |
Het |
Or6c6c |
A |
T |
10: 129,541,358 (GRCm39) |
T204S |
probably damaging |
Het |
Or6c8 |
A |
T |
10: 128,915,330 (GRCm39) |
C167* |
probably null |
Het |
Phip |
A |
T |
9: 82,814,936 (GRCm39) |
V262D |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
Reck |
T |
A |
4: 43,925,160 (GRCm39) |
D466E |
probably damaging |
Het |
Rimbp2 |
G |
T |
5: 128,878,025 (GRCm39) |
Y213* |
probably null |
Het |
Scn2a |
C |
T |
2: 65,518,721 (GRCm39) |
T365M |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,835,314 (GRCm39) |
T120S |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,657 (GRCm39) |
T50S |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,750 (GRCm39) |
R304G |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,695,257 (GRCm39) |
S67P |
probably damaging |
Het |
Tjp1 |
G |
A |
7: 64,962,382 (GRCm39) |
T1185I |
probably damaging |
Het |
Tspan2 |
T |
A |
3: 102,672,529 (GRCm39) |
I178N |
probably damaging |
Het |
Tusc2 |
T |
A |
9: 107,442,109 (GRCm39) |
*103R |
probably null |
Het |
Uggt1 |
A |
T |
1: 36,203,600 (GRCm39) |
*47R |
probably null |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vcpip1 |
T |
A |
1: 9,795,175 (GRCm39) |
K1065N |
possibly damaging |
Het |
Zfp532 |
C |
A |
18: 65,757,849 (GRCm39) |
P594Q |
probably damaging |
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 |
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 |
|
R0533:Morc2b
|
UTSW |
17 |
33,354,906 (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 |
|
Posted On |
2015-04-16 |