Incidental Mutation 'R1393:Chad'
| ID |
162705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chad
|
| Ensembl Gene |
ENSMUSG00000039084 |
| Gene Name |
chondroadherin |
| Synonyms |
SLRR4A |
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94455873-94459953 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94456140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 73
(M73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040418]
[ENSMUST00000103164]
|
| AlphaFold |
O55226 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040418
AA Change: M73L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047844
Gene: ENSMUSG00000039084
AA Change: M73L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
LRRNT
|
21 |
54 |
1.7e-7 |
SMART |
|
LRR_TYP
|
73 |
96 |
9.58e-3 |
SMART |
|
LRR_TYP
|
97 |
120 |
1.45e-2 |
SMART |
|
LRR_TYP
|
121 |
144 |
1.69e-3 |
SMART |
|
LRR_TYP
|
145 |
168 |
6.42e-4 |
SMART |
|
LRR
|
170 |
192 |
2.2e1 |
SMART |
|
LRR
|
193 |
216 |
2.14e1 |
SMART |
|
LRR_TYP
|
217 |
240 |
4.17e-3 |
SMART |
|
LRR
|
245 |
265 |
2.27e2 |
SMART |
|
LRR
|
266 |
289 |
3.36e1 |
SMART |
|
LRRCT
|
299 |
346 |
1.1e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103164
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
78 |
516 |
3.9e-100 |
PFAM |
|
Pfam:AMP-binding_C
|
524 |
599 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155122
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit widened epiphyseal growth plate, abnormal tracbecular and cortical bone morphology and lower femoral neck failure load and tibial strength. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
Het |
|
| Other mutations in Chad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1480:Chad
|
UTSW |
11 |
94,455,963 (GRCm39) |
intron |
probably benign |
|
|
R1855:Chad
|
UTSW |
11 |
94,456,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Chad
|
UTSW |
11 |
94,456,384 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2115:Chad
|
UTSW |
11 |
94,459,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2255:Chad
|
UTSW |
11 |
94,456,523 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4418:Chad
|
UTSW |
11 |
94,458,663 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4847:Chad
|
UTSW |
11 |
94,459,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4948:Chad
|
UTSW |
11 |
94,456,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Chad
|
UTSW |
11 |
94,459,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5511:Chad
|
UTSW |
11 |
94,456,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6387:Chad
|
UTSW |
11 |
94,458,663 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6528:Chad
|
UTSW |
11 |
94,456,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Chad
|
UTSW |
11 |
94,455,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Chad
|
UTSW |
11 |
94,458,718 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTAAATCAGTGGCTTCGGTGCTC -3'
(R):5'- AGCACGCAGCTCTCGGATTTTG -3'
Sequencing Primer
(F):5'- TCAAGGCTGCCCTATAAATGG -3'
(R):5'- GGGCAGTTCCGACACTTTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation