Incidental Mutation 'R7516:Morc2b'
ID |
582491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc2b
|
Ensembl Gene |
ENSMUSG00000048602 |
Gene Name |
microrchidia 2B |
Synonyms |
4932411A10Rik |
MMRRC Submission |
045589-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R7516 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33354562-33369473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33356435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 446
(H446Y)
|
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: H446Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000056879 Gene: ENSMUSG00000048602 AA Change: H446Y
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: H446Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000123354 Gene: ENSMUSG00000048602 AA Change: H446Y
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
A |
14: 68,868,125 (GRCm39) |
I407F |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
Alkbh5 |
T |
C |
11: 60,429,979 (GRCm39) |
V244A |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,058,538 (GRCm39) |
F1390L |
probably benign |
Het |
Asph |
T |
C |
4: 9,630,940 (GRCm39) |
D136G |
possibly damaging |
Het |
Atp8a2 |
A |
T |
14: 60,094,516 (GRCm39) |
Y841N |
probably damaging |
Het |
Cald1 |
A |
T |
6: 34,686,492 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
G |
17: 45,949,766 (GRCm39) |
I400T |
possibly damaging |
Het |
Cdh18 |
T |
A |
15: 23,259,684 (GRCm39) |
|
probably null |
Het |
Ces2h |
T |
A |
8: 105,743,458 (GRCm39) |
L204Q |
probably damaging |
Het |
Chrna3 |
G |
A |
9: 54,922,653 (GRCm39) |
A385V |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,672,009 (GRCm39) |
L311Q |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,721,448 (GRCm39) |
V1149A |
probably benign |
Het |
Clip3 |
T |
A |
7: 29,998,268 (GRCm39) |
V238D |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,520,192 (GRCm39) |
|
probably null |
Het |
Coro2a |
A |
G |
4: 46,562,992 (GRCm39) |
V54A |
probably benign |
Het |
Crem |
T |
C |
18: 3,299,141 (GRCm39) |
|
probably null |
Het |
Dennd5b |
T |
C |
6: 148,969,878 (GRCm39) |
I192V |
probably benign |
Het |
Dst |
A |
G |
1: 34,209,560 (GRCm39) |
N1209S |
probably benign |
Het |
Ero1a |
T |
A |
14: 45,525,480 (GRCm39) |
M385L |
probably benign |
Het |
Fam13a |
A |
T |
6: 58,932,248 (GRCm39) |
V375D |
probably damaging |
Het |
Fgfbp3 |
T |
A |
19: 36,896,324 (GRCm39) |
Y98F |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,338,712 (GRCm39) |
V335A |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,263,433 (GRCm39) |
D951E |
probably benign |
Het |
Gpatch1 |
T |
C |
7: 35,007,625 (GRCm39) |
D145G |
probably benign |
Het |
H60c |
G |
T |
10: 3,209,746 (GRCm39) |
C180* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,498,718 (GRCm39) |
T4054A |
probably benign |
Het |
Hrg |
A |
G |
16: 22,780,048 (GRCm39) |
Y442C |
unknown |
Het |
Hspg2 |
C |
T |
4: 137,269,931 (GRCm39) |
R2327C |
possibly damaging |
Het |
Klhl31 |
G |
T |
9: 77,558,429 (GRCm39) |
A382S |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,901,179 (GRCm39) |
V960A |
probably damaging |
Het |
Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
Me3 |
G |
T |
7: 89,497,183 (GRCm39) |
E395* |
probably null |
Het |
Mroh7 |
A |
T |
4: 106,548,316 (GRCm39) |
M1054K |
probably benign |
Het |
Ms4a6b |
T |
C |
19: 11,506,907 (GRCm39) |
V232A |
probably benign |
Het |
Nmt2 |
C |
A |
2: 3,313,767 (GRCm39) |
D224E |
probably damaging |
Het |
Nox4 |
C |
A |
7: 86,970,905 (GRCm39) |
R261S |
probably benign |
Het |
Obscn |
T |
A |
11: 59,015,416 (GRCm39) |
K1019* |
probably null |
Het |
Or4a15 |
T |
A |
2: 89,193,719 (GRCm39) |
N18I |
probably benign |
Het |
Or4g7 |
T |
A |
2: 111,309,282 (GRCm39) |
V51D |
probably benign |
Het |
Or5p67 |
G |
A |
7: 107,922,223 (GRCm39) |
S220F |
probably damaging |
Het |
Or8k24 |
C |
T |
2: 86,216,328 (GRCm39) |
V145I |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,144,671 (GRCm39) |
N254I |
probably damaging |
Het |
Pck2 |
T |
A |
14: 55,779,913 (GRCm39) |
I54N |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,361,861 (GRCm39) |
W978R |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,214,703 (GRCm39) |
T593A |
probably benign |
Het |
Podn |
G |
A |
4: 107,879,321 (GRCm39) |
R266W |
probably damaging |
Het |
Ptpn22 |
A |
G |
3: 103,792,854 (GRCm39) |
D335G |
probably benign |
Het |
Pxn |
A |
G |
5: 115,644,922 (GRCm39) |
D3G |
unknown |
Het |
Rapgefl1 |
T |
G |
11: 98,736,960 (GRCm39) |
V320G |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,785 (GRCm39) |
I416T |
probably benign |
Het |
Sema5b |
A |
G |
16: 35,471,540 (GRCm39) |
N378D |
probably benign |
Het |
Sh3bp4 |
C |
A |
1: 89,073,368 (GRCm39) |
L739M |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,168 (GRCm39) |
D191V |
probably damaging |
Het |
Slc3a1 |
T |
C |
17: 85,371,190 (GRCm39) |
Y581H |
probably damaging |
Het |
Smcr8 |
G |
T |
11: 60,670,814 (GRCm39) |
C654F |
probably benign |
Het |
Spta1 |
A |
C |
1: 174,025,349 (GRCm39) |
Q738P |
probably damaging |
Het |
Sptlc3 |
C |
A |
2: 139,431,438 (GRCm39) |
A320D |
probably benign |
Het |
Thnsl2 |
T |
A |
6: 71,108,990 (GRCm39) |
K274* |
probably null |
Het |
Tmed2 |
T |
A |
5: 124,685,055 (GRCm39) |
I68K |
possibly damaging |
Het |
Tmtc4 |
G |
A |
14: 123,180,735 (GRCm39) |
A326V |
possibly damaging |
Het |
Tnks2 |
T |
A |
19: 36,849,064 (GRCm39) |
S179T |
possibly damaging |
Het |
Trim34b |
G |
T |
7: 103,978,918 (GRCm39) |
C55F |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,954,444 (GRCm39) |
E1129V |
probably damaging |
Het |
Tvp23b |
T |
C |
11: 62,782,867 (GRCm39) |
S188P |
possibly damaging |
Het |
Usp1 |
A |
G |
4: 98,822,356 (GRCm39) |
T557A |
probably damaging |
Het |
Vmn2r66 |
C |
T |
7: 84,661,176 (GRCm39) |
C18Y |
possibly damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,254,852 (GRCm39) |
T611S |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,862,289 (GRCm39) |
S2969P |
possibly damaging |
Het |
Wdr74 |
T |
A |
19: 8,713,554 (GRCm39) |
C62* |
probably null |
Het |
Wfikkn1 |
A |
T |
17: 26,097,020 (GRCm39) |
C435S |
probably damaging |
Het |
Zbtb45 |
A |
T |
7: 12,740,269 (GRCm39) |
F449I |
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 |
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 |
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'- CAGCACTTAACTGGAAGGGG -3'
(R):5'- ATGTTTATCTACAACTGTAGCCGC -3'
Sequencing Primer
(F):5'- GGGTCCTCCACTTTAGACATAAATC -3'
(R):5'- TGTAGCCGCCTGATCAAAATG -3'
|
Posted On |
2019-10-17 |