Incidental Mutation 'IGL02500:Col26a1'
| ID |
296004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
136770613-136912063 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 136783193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 235
(L235*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057497]
[ENSMUST00000111103]
|
| AlphaFold |
Q91VF6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057497
AA Change: L237*
|
| SMART Domains |
Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: L237*
| 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 null
Transcript: ENSMUST00000111103
AA Change: L235*
|
| SMART Domains |
Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: L235*
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,856,338 (GRCm39) |
I409N |
possibly damaging |
Het |
| Aoc3 |
T |
A |
11: 101,228,215 (GRCm39) |
L674* |
probably null |
Het |
| Arhgef10 |
G |
A |
8: 15,011,238 (GRCm39) |
E265K |
probably damaging |
Het |
| Ccn1 |
T |
C |
3: 145,354,455 (GRCm39) |
K152R |
probably damaging |
Het |
| Cd53 |
A |
G |
3: 106,676,142 (GRCm39) |
I75T |
probably damaging |
Het |
| Crem |
G |
T |
18: 3,273,477 (GRCm39) |
Q60K |
probably damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,358,887 (GRCm39) |
D344G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,405,013 (GRCm39) |
T2510A |
probably benign |
Het |
| Dnajc4 |
T |
C |
19: 6,965,456 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,235 (GRCm39) |
H1262R |
probably benign |
Het |
| Exoc2 |
G |
T |
13: 31,095,179 (GRCm39) |
T239K |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,781 (GRCm39) |
S316C |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,586,704 (GRCm39) |
K429R |
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,747,252 (GRCm39) |
T647I |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,568,419 (GRCm39) |
|
probably benign |
Het |
| Kiz |
G |
A |
2: 146,705,733 (GRCm39) |
V98I |
probably benign |
Het |
| Klk1b24 |
A |
T |
7: 43,837,748 (GRCm39) |
|
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,857 (GRCm39) |
N241I |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,587,136 (GRCm39) |
V288A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,531,441 (GRCm39) |
H459R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,213 (GRCm39) |
Q115K |
probably benign |
Het |
| Msra |
A |
G |
14: 64,522,637 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,196,536 (GRCm39) |
R1752H |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,152,280 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,646 (GRCm39) |
Y60F |
probably damaging |
Het |
| Pax6 |
G |
T |
2: 105,523,115 (GRCm39) |
R317L |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,909 (GRCm39) |
E1129G |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,640,250 (GRCm39) |
H472Y |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prkce |
A |
G |
17: 86,476,342 (GRCm39) |
N108D |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,532,146 (GRCm39) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 67,227,043 (GRCm39) |
Y702C |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 179,921,122 (GRCm39) |
T421A |
possibly damaging |
Het |
| Retnlg |
A |
T |
16: 48,693,323 (GRCm39) |
L33F |
probably benign |
Het |
| Slc16a7 |
T |
A |
10: 125,066,802 (GRCm39) |
Y279F |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,696,142 (GRCm39) |
Y964C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sspo |
C |
A |
6: 48,455,313 (GRCm39) |
C3047* |
probably null |
Het |
| Tmprss11b |
C |
T |
5: 86,815,182 (GRCm39) |
|
probably null |
Het |
| Txnrd1 |
T |
G |
10: 82,715,051 (GRCm39) |
W98G |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,957,000 (GRCm39) |
I66N |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,554,893 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,650 (GRCm39) |
H172L |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,474 (GRCm39) |
C1218S |
probably benign |
Het |
|
| Other mutations in Col26a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation