Incidental Mutation 'R8776-TAIL:Col26a1'
| ID |
668062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col26a1
|
| Ensembl Gene |
ENSMUSG00000004415 |
| Gene Name |
collagen, type XXVI, alpha 1 |
| Synonyms |
Emid2, 9430032K24Rik, Collagen XXVI, Emu2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8776-TAIL
|
| Quality Score |
95.0077 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136770613-136912063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 136911708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 52
(R52C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057497]
[ENSMUST00000111103]
|
| AlphaFold |
Q91VF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057497
AA Change: R52C
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: R52C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
53 |
123 |
5.6e-21 |
PFAM |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
189 |
252 |
2e-10 |
PFAM |
|
Pfam:Collagen
|
217 |
273 |
8.4e-9 |
PFAM |
|
low complexity region
|
302 |
329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111103
AA Change: R52C
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: R52C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
52 |
123 |
1.2e-27 |
PFAM |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
187 |
250 |
2.1e-10 |
PFAM |
|
Pfam:Collagen
|
215 |
271 |
8.6e-9 |
PFAM |
|
Pfam:Collagen
|
298 |
335 |
2.5e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1747 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
| a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
| Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
| Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
| Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
| Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
| Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
| Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
| Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
| Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
| Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
| Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
| Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
| Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
probably benign |
Het |
|
| Other mutations in Col26a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02500:Col26a1
|
APN |
5 |
136,783,193 (GRCm39) |
nonsense |
probably null |
|
|
IGL03028:Col26a1
|
APN |
5 |
136,771,972 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03144:Col26a1
|
APN |
5 |
136,794,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Blobology
|
UTSW |
5 |
136,911,708 (GRCm39) |
missense |
probably damaging |
0.96 |
|
rohrschak
|
UTSW |
5 |
136,865,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Subjective
|
UTSW |
5 |
136,775,894 (GRCm39) |
missense |
probably benign |
|
|
PIT4514001:Col26a1
|
UTSW |
5 |
136,780,579 (GRCm39) |
missense |
probably benign |
|
|
R0454:Col26a1
|
UTSW |
5 |
136,783,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0833:Col26a1
|
UTSW |
5 |
136,794,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0836:Col26a1
|
UTSW |
5 |
136,794,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1187:Col26a1
|
UTSW |
5 |
136,773,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1236:Col26a1
|
UTSW |
5 |
136,783,780 (GRCm39) |
missense |
probably benign |
|
|
R4646:Col26a1
|
UTSW |
5 |
136,876,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Col26a1
|
UTSW |
5 |
136,865,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5772:Col26a1
|
UTSW |
5 |
136,876,420 (GRCm39) |
nonsense |
probably null |
|
|
R6026:Col26a1
|
UTSW |
5 |
136,876,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Col26a1
|
UTSW |
5 |
136,773,032 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6919:Col26a1
|
UTSW |
5 |
136,773,088 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7848:Col26a1
|
UTSW |
5 |
136,775,907 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7895:Col26a1
|
UTSW |
5 |
136,777,031 (GRCm39) |
splice site |
probably null |
|
|
R7911:Col26a1
|
UTSW |
5 |
136,771,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8131:Col26a1
|
UTSW |
5 |
136,775,894 (GRCm39) |
missense |
probably benign |
|
|
R8776:Col26a1
|
UTSW |
5 |
136,911,708 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9099:Col26a1
|
UTSW |
5 |
136,777,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9294:Col26a1
|
UTSW |
5 |
136,786,608 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
|
| Posted On |
2021-03-08 |
Incidental Mutation