Incidental Mutation 'R1131:Commd7'
| ID |
94588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Commd7
|
| Ensembl Gene |
ENSMUSG00000056941 |
| Gene Name |
COMM domain containing 7 |
| Synonyms |
mU3, 2310010I22Rik |
| MMRRC Submission |
039204-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R1131 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
153458853-153474701 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 153464047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 44
(Q44L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071852]
[ENSMUST00000109782]
|
| AlphaFold |
Q8BG94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071852
AA Change: Q115L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071752
Gene: ENSMUSG00000056941
AA Change: Q115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
19 |
199 |
3.8e-44 |
PFAM |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109782
AA Change: Q44L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105404
Gene: ENSMUSG00000056941
AA Change: Q44L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
1 |
127 |
4.4e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147822
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
G |
T |
3: 146,356,837 (GRCm39) |
H24N |
probably damaging |
Het |
| Ano7 |
T |
C |
1: 93,329,498 (GRCm39) |
F723L |
probably benign |
Het |
| Clec9a |
T |
G |
6: 129,387,278 (GRCm39) |
C44W |
probably damaging |
Het |
| Ddias |
A |
T |
7: 92,509,094 (GRCm39) |
S274T |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,384,129 (GRCm39) |
E342V |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,442,189 (GRCm39) |
F210S |
possibly damaging |
Het |
| Ggt6 |
A |
G |
11: 72,326,506 (GRCm39) |
E21G |
possibly damaging |
Het |
| Gzf1 |
A |
G |
2: 148,532,787 (GRCm39) |
N647S |
probably benign |
Het |
| Hnrnpk |
T |
C |
13: 58,541,979 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
G |
A |
1: 134,915,042 (GRCm39) |
R569W |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,838,144 (GRCm39) |
I458N |
probably benign |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Or51a25 |
C |
A |
7: 102,372,887 (GRCm39) |
R270L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,013,213 (GRCm39) |
S375T |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,725,828 (GRCm39) |
E331K |
probably damaging |
Het |
| Tcirg1 |
A |
G |
19: 3,946,301 (GRCm39) |
S799P |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,772,963 (GRCm39) |
D439V |
unknown |
Het |
| Tnrc6b |
A |
T |
15: 80,778,654 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,934,717 (GRCm39) |
C811S |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,348,378 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,551 (GRCm39) |
F6Y |
possibly damaging |
Het |
|
| Other mutations in Commd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03392:Commd7
|
APN |
2 |
153,464,684 (GRCm39) |
splice site |
probably benign |
|
|
R1065:Commd7
|
UTSW |
2 |
153,461,447 (GRCm39) |
splice site |
probably benign |
|
|
R2132:Commd7
|
UTSW |
2 |
153,463,586 (GRCm39) |
intron |
probably benign |
|
|
R3897:Commd7
|
UTSW |
2 |
153,464,710 (GRCm39) |
missense |
probably benign |
|
|
R5837:Commd7
|
UTSW |
2 |
153,471,144 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5902:Commd7
|
UTSW |
2 |
153,463,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Commd7
|
UTSW |
2 |
153,474,530 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9172:Commd7
|
UTSW |
2 |
153,470,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9573:Commd7
|
UTSW |
2 |
153,463,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCAGCCATGTTGGGGTAAAC -3'
(R):5'- TCCTGATGCCCTGCTGAAAGAATG -3'
Sequencing Primer
(F):5'- GTCTGAGATCAAGGACAAGTCTTCC -3'
(R):5'- ccctgctgaaagaaTGATTGTATTCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation