Incidental Mutation 'R8283:Morc2b'
ID |
638344 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc2b
|
Ensembl Gene |
ENSMUSG00000048602 |
Gene Name |
microrchidia 2B |
Synonyms |
4932411A10Rik |
MMRRC Submission |
067706-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R8283 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 33355675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 699
(N699T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053896]
[ENSMUST00000131954]
|
AlphaFold |
Q8C5W4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053896
AA Change: N699T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000056879 Gene: ENSMUSG00000048602 AA Change: N699T
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 benign
Transcript: ENSMUST00000131954
AA Change: N699T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123354 Gene: ENSMUSG00000048602 AA Change: N699T
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
C |
T |
5: 8,856,086 (GRCm39) |
P65S |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,250,935 (GRCm39) |
R565W |
probably damaging |
Het |
Arl14 |
A |
T |
3: 69,129,868 (GRCm39) |
N5I |
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,250 (GRCm39) |
E39G |
possibly damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
Boc |
A |
T |
16: 44,340,800 (GRCm39) |
L50Q |
noncoding transcript |
Het |
Calml3 |
A |
G |
13: 3,854,097 (GRCm39) |
V36A |
probably damaging |
Het |
Ccdc183 |
G |
A |
2: 25,502,160 (GRCm39) |
A238V |
probably damaging |
Het |
Ccndbp1 |
A |
G |
2: 120,839,065 (GRCm39) |
|
probably benign |
Het |
Ccr9 |
A |
G |
9: 123,608,696 (GRCm39) |
Y126C |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,804,737 (GRCm39) |
N491S |
probably benign |
Het |
Celsr2 |
C |
T |
3: 108,303,771 (GRCm39) |
G2429D |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,349,457 (GRCm39) |
T84A |
probably damaging |
Het |
Dcpp2 |
T |
C |
17: 24,118,384 (GRCm39) |
|
probably null |
Het |
Drosha |
A |
G |
15: 12,890,587 (GRCm39) |
I945V |
possibly damaging |
Het |
Dsg1b |
A |
G |
18: 20,524,963 (GRCm39) |
Q133R |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,550,554 (GRCm39) |
E174D |
probably benign |
Het |
Esrrb |
A |
G |
12: 86,468,732 (GRCm39) |
H15R |
probably benign |
Het |
Fbxl12 |
T |
C |
9: 20,550,017 (GRCm39) |
T213A |
probably benign |
Het |
Fnbp4 |
C |
A |
2: 90,577,115 (GRCm39) |
T149K |
probably damaging |
Het |
Foxj1 |
A |
T |
11: 116,224,893 (GRCm39) |
F158Y |
probably benign |
Het |
Frrs1 |
A |
G |
3: 116,671,952 (GRCm39) |
T17A |
probably benign |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Gm45844 |
T |
C |
7: 7,244,901 (GRCm39) |
Y11C |
possibly damaging |
Het |
Hnrnpl |
T |
C |
7: 28,513,697 (GRCm39) |
V220A |
|
Het |
Iars2 |
T |
A |
1: 185,020,288 (GRCm39) |
R949* |
probably null |
Het |
Ice1 |
T |
C |
13: 70,752,549 (GRCm39) |
E1179G |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
Mcmdc2 |
A |
C |
1: 10,004,263 (GRCm39) |
K581T |
possibly damaging |
Het |
Men1 |
A |
T |
19: 6,386,848 (GRCm39) |
D186V |
probably damaging |
Het |
Mrgpra2b |
A |
G |
7: 47,114,465 (GRCm39) |
L89P |
probably damaging |
Het |
Naip1 |
C |
T |
13: 100,563,695 (GRCm39) |
G490E |
probably damaging |
Het |
Ntm |
T |
C |
9: 28,923,508 (GRCm39) |
Y224C |
probably damaging |
Het |
Nup88 |
A |
T |
11: 70,849,166 (GRCm39) |
D262E |
probably benign |
Het |
Or10ag52 |
T |
C |
2: 87,043,683 (GRCm39) |
V149A |
probably benign |
Het |
Or51l4 |
T |
A |
7: 103,404,019 (GRCm39) |
I258L |
possibly damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Oscp1 |
A |
G |
4: 125,980,393 (GRCm39) |
M293V |
probably benign |
Het |
Pcdhgc3 |
C |
A |
18: 37,940,694 (GRCm39) |
A365D |
probably damaging |
Het |
Pcyt2 |
A |
T |
11: 120,501,548 (GRCm39) |
F388I |
probably benign |
Het |
Pgm2l1 |
C |
G |
7: 99,902,460 (GRCm39) |
A136G |
probably benign |
Het |
Phf14 |
T |
G |
6: 11,987,636 (GRCm39) |
D638E |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,940,935 (GRCm39) |
K1096E |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
Rnf187 |
T |
A |
11: 58,829,241 (GRCm39) |
R124W |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,450,030 (GRCm39) |
Y36H |
probably damaging |
Het |
Setd7 |
T |
G |
3: 51,428,796 (GRCm39) |
S345R |
probably benign |
Het |
Sgms1 |
T |
C |
19: 32,137,035 (GRCm39) |
D177G |
probably damaging |
Het |
Snx19 |
T |
C |
9: 30,374,522 (GRCm39) |
L927S |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,942,294 (GRCm39) |
D977G |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,870,212 (GRCm39) |
R121W |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,291,771 (GRCm39) |
D152G |
probably damaging |
Het |
Suclg2 |
T |
A |
6: 95,474,700 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
C |
7: 130,227,034 (GRCm39) |
S1240P |
probably benign |
Het |
Tbc1d12 |
C |
T |
19: 38,825,353 (GRCm39) |
A68V |
probably benign |
Het |
Tex14 |
G |
A |
11: 87,365,241 (GRCm39) |
D62N |
probably damaging |
Het |
Thyn1 |
C |
T |
9: 26,918,155 (GRCm39) |
T181I |
probably benign |
Het |
Trio |
T |
A |
15: 27,756,628 (GRCm39) |
H2056L |
possibly damaging |
Het |
Ubn2 |
T |
A |
6: 38,475,663 (GRCm39) |
L1207Q |
probably damaging |
Het |
Usp17lb |
T |
C |
7: 104,490,013 (GRCm39) |
S305G |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,253 (GRCm39) |
Y750N |
probably damaging |
Het |
Wif1 |
G |
A |
10: 120,931,952 (GRCm39) |
S292N |
probably benign |
Het |
Xpo6 |
T |
G |
7: 125,727,421 (GRCm39) |
Q528H |
possibly 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 |
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 |
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'- TGAGAGCTCACTTGCTTGAATC -3'
(R):5'- TCAGACAGCTCCAAAGGTCTTC -3'
Sequencing Primer
(F):5'- GAGAGCTCACTTGCTTGAATCTTTTC -3'
(R):5'- GACAGCTCCAAAGGTCTTCTATCATC -3'
|
Posted On |
2020-07-28 |