Incidental Mutation 'R4556:Mcub'
| ID |
341861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcub
|
| Ensembl Gene |
|
| Gene Name |
mitochondrial calcium uniporter dominant negative beta subunit |
| Synonyms |
9030408N13Rik, Ccdc109b |
| MMRRC Submission |
041597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R4556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129708609-129763850 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 129709384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 310
(Q310*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029624]
[ENSMUST00000029626]
[ENSMUST00000153506]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029624
AA Change: Q310*
|
| SMART Domains |
Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
AA Change: Q310*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCU
|
109 |
314 |
4.4e-68 |
PFAM |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029626
|
| SMART Domains |
Protein: ENSMUSP00000029626
Gene: ENSMUSG00000027997
| Domain | Start | End | E-Value | Type |
|---|
|
CASc
|
19 |
272 |
6.84e-132 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146340
|
| SMART Domains |
Protein: ENSMUSP00000115224
Gene: ENSMUSG00000027994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCU
|
34 |
149 |
2.4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153506
|
| SMART Domains |
Protein: ENSMUSP00000118170
Gene: ENSMUSG00000027994
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
202 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Fbxo42 |
T |
A |
4: 140,926,321 (GRCm39) |
H334Q |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
| Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
| Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Nktr |
A |
G |
9: 121,570,189 (GRCm39) |
T90A |
probably damaging |
Het |
| Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
| Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
| Rnf25 |
A |
T |
1: 74,638,264 (GRCm39) |
I26N |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
| Sh2d3c |
A |
G |
2: 32,643,021 (GRCm39) |
T583A |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
| Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
| Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
| Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,804 (GRCm39) |
S67P |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,140,623 (GRCm39) |
H195Q |
probably benign |
Het |
|
| Other mutations in Mcub |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0006:Mcub
|
UTSW |
3 |
129,727,414 (GRCm39) |
splice site |
probably benign |
|
|
R0632:Mcub
|
UTSW |
3 |
129,712,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1471:Mcub
|
UTSW |
3 |
129,709,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Mcub
|
UTSW |
3 |
129,712,376 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1894:Mcub
|
UTSW |
3 |
129,728,312 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2104:Mcub
|
UTSW |
3 |
129,712,337 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4777:Mcub
|
UTSW |
3 |
129,763,600 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4871:Mcub
|
UTSW |
3 |
129,710,685 (GRCm39) |
nonsense |
probably null |
|
|
R5213:Mcub
|
UTSW |
3 |
129,710,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5464:Mcub
|
UTSW |
3 |
129,709,365 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5587:Mcub
|
UTSW |
3 |
129,710,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5605:Mcub
|
UTSW |
3 |
129,710,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Mcub
|
UTSW |
3 |
129,712,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6031:Mcub
|
UTSW |
3 |
129,720,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Mcub
|
UTSW |
3 |
129,720,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Mcub
|
UTSW |
3 |
129,709,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6389:Mcub
|
UTSW |
3 |
129,712,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Mcub
|
UTSW |
3 |
129,710,752 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7864:Mcub
|
UTSW |
3 |
129,712,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8246:Mcub
|
UTSW |
3 |
129,708,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8319:Mcub
|
UTSW |
3 |
129,727,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Mcub
|
UTSW |
3 |
129,720,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9698:Mcub
|
UTSW |
3 |
129,710,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mcub
|
UTSW |
3 |
129,710,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mcub
|
UTSW |
3 |
129,710,591 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTCATAAAGTACCAGGG -3'
(R):5'- GCCACTGTAGATACCTATGGCC -3'
Sequencing Primer
(F):5'- GAATTAATTCCCTTTCGCCATTTTTC -3'
(R):5'- ACTGTAGATACCTATGGCCCTTCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation