Incidental Mutation 'IGL02152:Morc2b'
| ID |
282040 |
| 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 # |
IGL02152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33356917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 285
(K285M)
|
| 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: K285M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: K285M
| 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: K285M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: K285M
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,695,983 (GRCm39) |
T140A |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,460,991 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Adamts17 |
T |
A |
7: 66,774,748 (GRCm39) |
S956T |
probably benign |
Het |
| Adamts6 |
A |
T |
13: 104,450,168 (GRCm39) |
S290C |
probably null |
Het |
| Apaf1 |
A |
T |
10: 90,897,681 (GRCm39) |
H267Q |
probably benign |
Het |
| Aplp2 |
G |
A |
9: 31,122,947 (GRCm39) |
P26L |
unknown |
Het |
| Arid1b |
C |
T |
17: 5,364,243 (GRCm39) |
S1019F |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Ass1 |
T |
C |
2: 31,382,336 (GRCm39) |
I169T |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,692 (GRCm39) |
D285G |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,209 (GRCm39) |
V2737A |
probably benign |
Het |
| Chrm5 |
A |
G |
2: 112,310,913 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cops4 |
A |
G |
5: 100,681,456 (GRCm39) |
T164A |
probably benign |
Het |
| Cox4i1 |
A |
G |
8: 121,399,604 (GRCm39) |
S72G |
probably benign |
Het |
| Cpox |
A |
G |
16: 58,494,787 (GRCm39) |
T275A |
possibly damaging |
Het |
| Cyb5a |
T |
C |
18: 84,891,281 (GRCm39) |
I68T |
probably benign |
Het |
| Efna5 |
T |
C |
17: 62,958,055 (GRCm39) |
D67G |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,649,900 (GRCm39) |
E842G |
probably damaging |
Het |
| Fam210b |
A |
G |
2: 172,193,423 (GRCm39) |
K79E |
probably benign |
Het |
| Gm4799 |
T |
C |
10: 82,790,589 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr146 |
A |
T |
5: 139,378,467 (GRCm39) |
R90W |
probably damaging |
Het |
| H2ac10 |
A |
G |
13: 23,718,451 (GRCm39) |
H124R |
probably benign |
Het |
| Hal |
A |
G |
10: 93,339,404 (GRCm39) |
I498V |
possibly damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,877,386 (GRCm39) |
G365R |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,627,217 (GRCm39) |
D407G |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,405,536 (GRCm39) |
I1185V |
possibly damaging |
Het |
| Kcnj16 |
A |
T |
11: 110,916,036 (GRCm39) |
M233L |
probably benign |
Het |
| Klhl5 |
A |
T |
5: 65,306,143 (GRCm39) |
Q370L |
probably damaging |
Het |
| L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
| Las1l |
A |
G |
X: 94,996,908 (GRCm39) |
V130A |
probably damaging |
Het |
| Liat1 |
A |
G |
11: 75,894,051 (GRCm39) |
I143V |
probably benign |
Het |
| Lrp2bp |
A |
T |
8: 46,476,081 (GRCm39) |
Y274F |
probably damaging |
Het |
| Mpp3 |
A |
T |
11: 101,916,216 (GRCm39) |
Y45* |
probably null |
Het |
| Muc4 |
T |
A |
16: 32,598,023 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,353,914 (GRCm39) |
C837R |
possibly damaging |
Het |
| Nr2f6 |
T |
A |
8: 71,828,810 (GRCm39) |
I155F |
probably damaging |
Het |
| Nsg1 |
A |
G |
5: 38,302,145 (GRCm39) |
F50L |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,251 (GRCm39) |
M206L |
probably benign |
Het |
| Ostf1 |
C |
A |
19: 18,567,822 (GRCm39) |
G101C |
probably damaging |
Het |
| Pam |
C |
T |
1: 97,768,474 (GRCm39) |
R552Q |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,395,924 (GRCm39) |
N2108S |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,487,149 (GRCm39) |
H484L |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,075,812 (GRCm39) |
D466G |
probably damaging |
Het |
| Rfx5 |
G |
A |
3: 94,864,493 (GRCm39) |
R213Q |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,552,971 (GRCm39) |
S73P |
probably damaging |
Het |
| Sec22c |
G |
A |
9: 121,513,845 (GRCm39) |
A264V |
probably benign |
Het |
| Sis |
A |
C |
3: 72,796,319 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,800,802 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
T |
C |
3: 79,252,839 (GRCm39) |
I18T |
possibly damaging |
Het |
| St13 |
T |
A |
15: 81,250,583 (GRCm39) |
I318F |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,374,382 (GRCm39) |
I142V |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,635,371 (GRCm39) |
E479K |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,809,903 (GRCm39) |
T1100S |
possibly damaging |
Het |
| Ttll6 |
G |
A |
11: 96,026,366 (GRCm39) |
W90* |
probably null |
Het |
| Txndc12 |
T |
A |
4: 108,691,989 (GRCm39) |
C9* |
probably null |
Het |
| Ubr7 |
C |
T |
12: 102,734,535 (GRCm39) |
Q270* |
probably null |
Het |
| Vps33b |
A |
G |
7: 79,934,817 (GRCm39) |
S302G |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,997 (GRCm39) |
V508E |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,703 (GRCm39) |
L111Q |
possibly damaging |
Het |
| Zfp410 |
T |
C |
12: 84,379,702 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,509,223 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
Incidental Mutation