Incidental Mutation 'R5740:Mcub'
| ID |
444739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcub
|
| Ensembl Gene |
|
| Gene Name |
mitochondrial calcium uniporter dominant negative beta subunit |
| Synonyms |
9030408N13Rik, Ccdc109b |
| MMRRC Submission |
043196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R5740 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129708609-129763850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129712374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 167
(M167K)
|
| 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 benign
Transcript: ENSMUST00000029624
AA Change: M167K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029624
Gene: ENSMUSG00000027994
AA Change: M167K
| 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 |
unknown
Transcript: ENSMUST00000146340
AA Change: M81K
|
| SMART Domains |
Protein: ENSMUSP00000115224
Gene: ENSMUSG00000027994
AA Change: M81K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCU
|
34 |
149 |
2.4e-19 |
PFAM |
|
| 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: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,413 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
A |
17: 56,604,838 (GRCm39) |
N150Y |
probably benign |
Het |
| Bag1 |
T |
C |
4: 40,941,526 (GRCm39) |
Q269R |
probably null |
Het |
| C7 |
T |
C |
15: 5,086,522 (GRCm39) |
N40D |
probably benign |
Het |
| Ccnt1 |
T |
C |
15: 98,442,381 (GRCm39) |
I296V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,178 (GRCm39) |
T509A |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,918,832 (GRCm39) |
T282S |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,522,839 (GRCm39) |
M241V |
probably benign |
Het |
| Gja1 |
G |
A |
10: 56,264,285 (GRCm39) |
V215M |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,362 (GRCm39) |
L2567P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 48,989,573 (GRCm39) |
N819D |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,719,863 (GRCm39) |
R3H |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,926,762 (GRCm39) |
Y1079C |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,220 (GRCm39) |
E512G |
possibly damaging |
Het |
| Ino80 |
T |
C |
2: 119,261,510 (GRCm39) |
D718G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,239,824 (GRCm39) |
K73E |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,235,649 (GRCm39) |
I918V |
probably damaging |
Het |
| M1ap |
T |
C |
6: 82,958,903 (GRCm39) |
V178A |
probably damaging |
Het |
| Mgat4c |
A |
T |
10: 102,225,182 (GRCm39) |
K465N |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,569,009 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Npepps |
A |
T |
11: 97,126,894 (GRCm39) |
D455E |
possibly damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,926 (GRCm39) |
M256V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,144,033 (GRCm39) |
G128S |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,551,664 (GRCm39) |
I489N |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,658,716 (GRCm39) |
T134A |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,399 (GRCm39) |
E596G |
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,164 (GRCm39) |
S1619P |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,816,643 (GRCm39) |
C387* |
probably null |
Het |
| Slc5a5 |
G |
T |
8: 71,341,561 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,721,718 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,091,450 (GRCm39) |
D212G |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,176 (GRCm39) |
I160N |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,900,103 (GRCm39) |
M600I |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,654 (GRCm39) |
I387V |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,581 (GRCm39) |
R575G |
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 |
|
R4556:Mcub
|
UTSW |
3 |
129,709,384 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- GTGACAGGCACTCACTCCTTAAC -3'
(R):5'- GACTTTGGACGAGACTGGTG -3'
Sequencing Primer
(F):5'- AAGGCTTGCGTCAATTGCAC -3'
(R):5'- GACTGGTGATCAACTAAATCCTGGTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation