Incidental Mutation 'R3440:Clrn3'
| ID |
267351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clrn3
|
| Ensembl Gene |
ENSMUSG00000050866 |
| Gene Name |
clarin 3 |
| Synonyms |
Tmem12 |
| MMRRC Submission |
040658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R3440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
135113195-135130383 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 135115854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 165
(Y165*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053716]
|
| AlphaFold |
Q8BHH8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053716
AA Change: Y165*
|
| SMART Domains |
Protein: ENSMUSP00000056245
Gene: ENSMUSG00000050866
AA Change: Y165*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
201 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
C |
A |
2: 103,397,577 (GRCm39) |
A169E |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
| Agmo |
C |
T |
12: 37,293,799 (GRCm39) |
T74I |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,865,602 (GRCm39) |
V862A |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,096,061 (GRCm39) |
Q4614* |
probably null |
Het |
| Cavin2 |
T |
A |
1: 51,340,565 (GRCm39) |
V414E |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
| Dhrs3 |
T |
A |
4: 144,646,628 (GRCm39) |
M226K |
probably damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,004 (GRCm39) |
F426S |
unknown |
Het |
| Fpr1 |
C |
T |
17: 18,097,420 (GRCm39) |
D190N |
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
| Grin2c |
T |
A |
11: 115,141,469 (GRCm39) |
D883V |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| H2-Eb1 |
A |
G |
17: 34,528,655 (GRCm39) |
E62G |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
| Lef1 |
A |
G |
3: 130,978,407 (GRCm39) |
D175G |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,352,658 (GRCm39) |
|
probably null |
Het |
| Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
| Pgr |
A |
T |
9: 8,922,630 (GRCm39) |
N600I |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Selp |
T |
C |
1: 163,951,344 (GRCm39) |
F26S |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
Het |
|
| Other mutations in Clrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0550:Clrn3
|
UTSW |
7 |
135,130,154 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1676:Clrn3
|
UTSW |
7 |
135,120,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1935:Clrn3
|
UTSW |
7 |
135,115,753 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1936:Clrn3
|
UTSW |
7 |
135,115,753 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1950:Clrn3
|
UTSW |
7 |
135,115,813 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1993:Clrn3
|
UTSW |
7 |
135,115,848 (GRCm39) |
missense |
probably benign |
|
|
R3441:Clrn3
|
UTSW |
7 |
135,115,854 (GRCm39) |
nonsense |
probably null |
|
|
R3890:Clrn3
|
UTSW |
7 |
135,120,194 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3891:Clrn3
|
UTSW |
7 |
135,120,194 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5537:Clrn3
|
UTSW |
7 |
135,115,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7330:Clrn3
|
UTSW |
7 |
135,130,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8165:Clrn3
|
UTSW |
7 |
135,130,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8675:Clrn3
|
UTSW |
7 |
135,115,880 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0066:Clrn3
|
UTSW |
7 |
135,115,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCTTGGAGCATATTCCACC -3'
(R):5'- GTTGGCTTCCACGTGTGTAC -3'
Sequencing Primer
(F):5'- GGAGCATATTCCACCGGCTTC -3'
(R):5'- TCCACGTGTGTACACATACATG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation