Incidental Mutation 'R1308:R3hdml'
ID |
157848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdml
|
Ensembl Gene |
ENSMUSG00000078949 |
Gene Name |
R3H domain containing-like |
Synonyms |
OTTMUSG00000001070 |
MMRRC Submission |
039374-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R1308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
163334238-163344532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 163344319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 236
(C236F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109416]
[ENSMUST00000143911]
|
AlphaFold |
A2A5I3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109416
AA Change: C236F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105043 Gene: ENSMUSG00000078949 AA Change: C236F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
SCP
|
61 |
215 |
2.52e-33 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125811
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141329
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143911
|
SMART Domains |
Protein: ENSMUSP00000119479 Gene: ENSMUSG00000017950
Domain | Start | End | E-Value | Type |
ZnF_C4
|
35 |
100 |
6.18e-27 |
SMART |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,861,547 (GRCm39) |
K146R |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt12 |
A |
T |
19: 4,510,763 (GRCm39) |
V37E |
probably damaging |
Het |
Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
Het |
|
Other mutations in R3hdml |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1952:R3hdml
|
UTSW |
2 |
163,340,216 (GRCm39) |
missense |
probably benign |
0.03 |
R5544:R3hdml
|
UTSW |
2 |
163,340,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R6431:R3hdml
|
UTSW |
2 |
163,344,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R7317:R3hdml
|
UTSW |
2 |
163,344,367 (GRCm39) |
nonsense |
probably null |
|
R7605:R3hdml
|
UTSW |
2 |
163,337,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R8303:R3hdml
|
UTSW |
2 |
163,341,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R9255:R3hdml
|
UTSW |
2 |
163,337,612 (GRCm39) |
missense |
probably damaging |
0.98 |
R9294:R3hdml
|
UTSW |
2 |
163,344,252 (GRCm39) |
missense |
probably benign |
0.10 |
R9307:R3hdml
|
UTSW |
2 |
163,344,372 (GRCm39) |
makesense |
probably null |
|
R9364:R3hdml
|
UTSW |
2 |
163,334,535 (GRCm39) |
missense |
probably benign |
|
R9422:R3hdml
|
UTSW |
2 |
163,334,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGAAGGCTGTTTGCCCTAAACTC -3'
(R):5'- AGTCACAAACCAAGCTTCCTGTTCC -3'
Sequencing Primer
(F):5'- GCTGTTTGCCCTAAACTCTTCTG -3'
(R):5'- gaggcagaggcaggcag -3'
|
Posted On |
2014-02-18 |