Incidental Mutation 'R8779:Rmnd5b'
| ID |
670179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmnd5b
|
| Ensembl Gene |
ENSMUSG00000001054 |
| Gene Name |
required for meiotic nuclear division 5 homolog B |
| Synonyms |
0610039K22Rik, Gid2 |
| MMRRC Submission |
068721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8779 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51514500-51526723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51518459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 139
(E139G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001081]
[ENSMUST00000127405]
[ENSMUST00000136020]
|
| AlphaFold |
Q91YQ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001081
AA Change: E139G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001081
Gene: ENSMUSG00000001054
AA Change: E139G
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000136020
AA Change: E139G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120636
Gene: ENSMUSG00000001054
AA Change: E139G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
C |
A |
5: 139,259,173 (GRCm39) |
C338F |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,319,973 (GRCm39) |
N256S |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,747,719 (GRCm39) |
I1152V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,758,751 (GRCm39) |
N149K |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,391,809 (GRCm39) |
D1727N |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,171,920 (GRCm39) |
F88Y |
probably benign |
Het |
| Cpox |
G |
C |
16: 58,491,229 (GRCm39) |
E147Q |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,660,845 (GRCm39) |
F902S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,162,900 (GRCm39) |
K128E |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,898 (GRCm39) |
I2517F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,037,245 (GRCm39) |
N48S |
probably benign |
Het |
| Gcfc2 |
C |
T |
6: 81,925,298 (GRCm39) |
T571I |
probably benign |
Het |
| Gem |
T |
C |
4: 11,711,166 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,869 (GRCm38) |
N118K |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,311 (GRCm39) |
W57R |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,925 (GRCm39) |
E30G |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,440 (GRCm39) |
D92E |
probably benign |
Het |
| Jakmip1 |
G |
C |
5: 37,386,672 (GRCm39) |
E1428Q |
unknown |
Het |
| Kazn |
T |
C |
4: 141,881,856 (GRCm39) |
E128G |
|
Het |
| Myo3a |
C |
A |
2: 22,250,404 (GRCm39) |
Y90* |
probably null |
Het |
| Npas2 |
A |
C |
1: 39,377,267 (GRCm39) |
D543A |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,397 (GRCm39) |
T137A |
possibly damaging |
Het |
| Or5v1 |
A |
G |
17: 37,809,718 (GRCm39) |
M59V |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,636 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,835 (GRCm39) |
R410L |
probably damaging |
Het |
| Rexo1 |
A |
G |
10: 80,384,292 (GRCm39) |
S656P |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,181,257 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,948,457 (GRCm39) |
S601P |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,992,121 (GRCm39) |
V144A |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,995,688 (GRCm39) |
I489T |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,366 (GRCm39) |
E575G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,276,297 (GRCm39) |
D545G |
probably benign |
Het |
| Vmn2r81 |
G |
A |
10: 79,103,218 (GRCm39) |
C137Y |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,267,692 (GRCm39) |
K575* |
probably null |
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 |
|
IGL02827:Rmnd5b
|
APN |
11 |
51,518,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGAAGCCCAAGAAATTGG -3'
(R):5'- CACATGTATGAGTGCCCGAG -3'
Sequencing Primer
(F):5'- TGAGTTTGAGACCAGCCTAGC -3'
(R):5'- GTATGAGTGCCCGAGTCACAAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation