Incidental Mutation 'R2299:Chordc1'
| ID |
245268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chordc1
|
| Ensembl Gene |
ENSMUSG00000001774 |
| Gene Name |
cysteine and histidine rich domain containing 1 |
| Synonyms |
1110001O09Rik, morgana, Chp-1 |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
18203563-18225296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18213404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 85
(L85P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001825]
[ENSMUST00000213605]
[ENSMUST00000216800]
[ENSMUST00000217031]
[ENSMUST00000217083]
|
| AlphaFold |
Q9D1P4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001825
AA Change: L85P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000001825
Gene: ENSMUSG00000001774
AA Change: L85P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHORD
|
3 |
64 |
3.4e-32 |
PFAM |
|
low complexity region
|
67 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
154 |
N/A |
INTRINSIC |
|
Pfam:CHORD
|
155 |
216 |
4.5e-29 |
PFAM |
|
Pfam:CS
|
230 |
306 |
4.6e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213605
AA Change: L85P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216666
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216800
AA Change: L85P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217031
AA Change: L85P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217083
AA Change: L85P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217524
|
| Meta Mutation Damage Score |
0.0622 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before somite formation with decreased proliferation and increased apoptosis of cultured inner cell masse cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in Chordc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Chordc1
|
APN |
9 |
18,213,388 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03155:Chordc1
|
APN |
9 |
18,215,616 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03343:Chordc1
|
APN |
9 |
18,223,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
garner
|
UTSW |
9 |
18,206,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Chordc1
|
UTSW |
9 |
18,223,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Chordc1
|
UTSW |
9 |
18,203,672 (GRCm39) |
unclassified |
probably benign |
|
|
R4808:Chordc1
|
UTSW |
9 |
18,203,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Chordc1
|
UTSW |
9 |
18,224,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5667:Chordc1
|
UTSW |
9 |
18,206,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Chordc1
|
UTSW |
9 |
18,215,658 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7212:Chordc1
|
UTSW |
9 |
18,212,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Chordc1
|
UTSW |
9 |
18,206,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7605:Chordc1
|
UTSW |
9 |
18,215,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7726:Chordc1
|
UTSW |
9 |
18,213,510 (GRCm39) |
makesense |
probably null |
|
|
R7920:Chordc1
|
UTSW |
9 |
18,213,397 (GRCm39) |
missense |
probably benign |
|
|
R9213:Chordc1
|
UTSW |
9 |
18,223,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9468:Chordc1
|
UTSW |
9 |
18,213,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATAGCATAGCATCCTTGG -3'
(R):5'- AGTGGACACTGCAAACGTC -3'
Sequencing Primer
(F):5'- ACCATGCCAGGCTTAGTAGTG -3'
(R):5'- GTGGACACTGCAAACGTCTTTATAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation