Incidental Mutation 'R0580:Chchd3'
| ID |
56389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chchd3
|
| Ensembl Gene |
ENSMUSG00000053768 |
| Gene Name |
coiled-coil-helix-coiled-coil-helix domain containing 3 |
| Synonyms |
1700039J09Rik, 0610041L09Rik, Micos19 |
| MMRRC Submission |
038770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0580 (G1)
|
| Quality Score |
125 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
32769142-33037206 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 32870325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066379]
[ENSMUST00000115091]
[ENSMUST00000124436]
[ENSMUST00000127666]
[ENSMUST00000129069]
|
| AlphaFold |
Q9CRB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066379
|
| SMART Domains |
Protein: ENSMUSP00000070149
Gene: ENSMUSG00000053768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
14 |
53 |
2.4e-16 |
PFAM |
|
Pfam:DUF737
|
47 |
175 |
2.9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115091
|
| SMART Domains |
Protein: ENSMUSP00000110743
Gene: ENSMUSG00000053768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
14 |
175 |
6.4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124436
|
| SMART Domains |
Protein: ENSMUSP00000138484
Gene: ENSMUSG00000053768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
14 |
84 |
3e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125264
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127666
|
| SMART Domains |
Protein: ENSMUSP00000123220
Gene: ENSMUSG00000053768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
14 |
53 |
7.3e-17 |
PFAM |
|
Pfam:DUF737
|
47 |
180 |
8.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129069
|
| SMART Domains |
Protein: ENSMUSP00000121589
Gene: ENSMUSG00000053768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF737
|
1 |
37 |
2.9e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143206
|
| Meta Mutation Damage Score |
0.8654 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit lethality prior to implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,470 (GRCm39) |
D314E |
probably damaging |
Het |
| Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
| Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
| Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,100,215 (GRCm39) |
M1L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
| Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,178 (GRCm39) |
L668P |
probably damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
| Iqce |
A |
G |
5: 140,651,156 (GRCm39) |
F768L |
possibly damaging |
Het |
| Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
| Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,611,855 (GRCm39) |
M391K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,711,379 (GRCm39) |
D51E |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
probably damaging |
Het |
|
| Other mutations in Chchd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Chchd3
|
APN |
6 |
32,945,188 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01153:Chchd3
|
APN |
6 |
32,985,502 (GRCm39) |
splice site |
probably benign |
|
|
IGL01347:Chchd3
|
APN |
6 |
32,780,838 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1438:Chchd3
|
UTSW |
6 |
32,985,503 (GRCm39) |
splice site |
probably benign |
|
|
R2294:Chchd3
|
UTSW |
6 |
32,829,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Chchd3
|
UTSW |
6 |
32,780,950 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5122:Chchd3
|
UTSW |
6 |
32,945,240 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7502:Chchd3
|
UTSW |
6 |
32,945,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8927:Chchd3
|
UTSW |
6 |
32,780,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8928:Chchd3
|
UTSW |
6 |
32,780,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9233:Chchd3
|
UTSW |
6 |
32,780,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Chchd3
|
UTSW |
6 |
33,026,317 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGTTGGTTAAAATGCAAACCCAC -3'
(R):5'- GTTCTCATGCTGCTGGAATTGCTTAAAA -3'
Sequencing Primer
(F):5'- AGTACCATTTTGTGTTCAGTGAAG -3'
(R):5'- tgttgtttttcaacggcttattatc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation