Incidental Mutation 'IGL02827:Rmnd5b'
ID |
361260 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rmnd5b
|
Ensembl Gene |
ENSMUSG00000001054 |
Gene Name |
required for meiotic nuclear division 5 homolog B |
Synonyms |
0610039K22Rik, Gid2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02827
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
51514500-51526723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51518849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001081]
[ENSMUST00000127405]
[ENSMUST00000136020]
|
AlphaFold |
Q91YQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001081
AA Change: L48P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000001081 Gene: ENSMUSG00000001054 AA Change: L48P
Domain | Start | End | E-Value | Type |
LisH
|
116 |
148 |
3.6e-4 |
SMART |
CTLH
|
155 |
212 |
7.82e-14 |
SMART |
CRA
|
210 |
304 |
1.63e-21 |
SMART |
Pfam:zf-RING_UBOX
|
338 |
377 |
3.7e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000001083
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127405
|
SMART Domains |
Protein: ENSMUSP00000120014 Gene: ENSMUSG00000001056
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L7Ae
|
45 |
139 |
1.1e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132854
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136020
AA Change: L48P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120636 Gene: ENSMUSG00000001054 AA Change: L48P
Domain | Start | End | E-Value | Type |
LisH
|
116 |
148 |
3.6e-4 |
SMART |
CTLH
|
155 |
212 |
7.82e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147009
|
SMART Domains |
Protein: ENSMUSP00000118594 Gene: ENSMUSG00000001054
Domain | Start | End | E-Value | Type |
Pfam:CLTH
|
1 |
91 |
1.4e-11 |
PFAM |
Pfam:zf-RING_UBOX
|
130 |
169 |
3.1e-19 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
Asgr2 |
A |
G |
11: 69,987,723 (GRCm39) |
I74V |
probably benign |
Het |
Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
Hnf1b |
A |
G |
11: 83,746,752 (GRCm39) |
K123E |
probably damaging |
Het |
Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
Or1f12 |
A |
G |
13: 21,721,528 (GRCm39) |
S216P |
probably benign |
Het |
Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,678,592 (GRCm39) |
T132A |
probably damaging |
Het |
Stard13 |
T |
C |
5: 150,986,591 (GRCm39) |
I188M |
probably benign |
Het |
Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
Uox |
A |
C |
3: 146,302,951 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
probably damaging |
Het |
|
Other mutations in Rmnd5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01669:Rmnd5b
|
APN |
11 |
51,518,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Rmnd5b
|
UTSW |
11 |
51,520,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1886:Rmnd5b
|
UTSW |
11 |
51,518,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4556:Rmnd5b
|
UTSW |
11 |
51,517,732 (GRCm39) |
splice site |
probably null |
|
R4996:Rmnd5b
|
UTSW |
11 |
51,518,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R5283:Rmnd5b
|
UTSW |
11 |
51,517,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Rmnd5b
|
UTSW |
11 |
51,518,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R6119:Rmnd5b
|
UTSW |
11 |
51,516,536 (GRCm39) |
missense |
probably benign |
0.21 |
R6993:Rmnd5b
|
UTSW |
11 |
51,515,427 (GRCm39) |
intron |
probably benign |
|
R7128:Rmnd5b
|
UTSW |
11 |
51,515,364 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8779:Rmnd5b
|
UTSW |
11 |
51,518,459 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8971:Rmnd5b
|
UTSW |
11 |
51,515,322 (GRCm39) |
missense |
probably benign |
0.02 |
R9080:Rmnd5b
|
UTSW |
11 |
51,515,055 (GRCm39) |
critical splice donor site |
probably null |
|
R9610:Rmnd5b
|
UTSW |
11 |
51,517,869 (GRCm39) |
missense |
probably damaging |
0.97 |
R9611:Rmnd5b
|
UTSW |
11 |
51,517,869 (GRCm39) |
missense |
probably damaging |
0.97 |
R9690:Rmnd5b
|
UTSW |
11 |
51,518,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-12-18 |