Incidental Mutation 'R1236:Col26a1'
| ID |
152428 |
| 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 # |
R1236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136770613-136912063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136783780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 229
(V229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057497]
[ENSMUST00000111103]
|
| AlphaFold |
Q91VF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057497
AA Change: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: V231A
| 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 |
probably benign
Transcript: ENSMUST00000111103
AA Change: V229A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: V229A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153127
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156962
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
| Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
| Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
| Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
| Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
| Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
| Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
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 |
|
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 |
|
R8776-TAIL: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 |
PCR Primer
(F):5'- AACAAACCCTGGGCCTTAGCAG -3'
(R):5'- AGACAGGGAAAGGCAACTTCTCAAC -3'
Sequencing Primer
(F):5'- AGGGTCCCAGTAGACTCTTGTC -3'
(R):5'- agaatcccccagtgaggag -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation