Incidental Mutation 'PIT4514001:Col26a1'
| ID |
556266 |
| 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 # |
PIT4514001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136770613-136912063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136780579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 295
(V295A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057497]
[ENSMUST00000111103]
|
| AlphaFold |
Q91VF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057497
AA Change: V295A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: V295A
| 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: V293A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: V293A
| 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.2%
- 20x: 70.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 61,001,328 (GRCm39) |
|
probably null |
Het |
| Aadacl4fm2 |
T |
C |
4: 144,282,081 (GRCm39) |
Y237C |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,616,574 (GRCm39) |
I1247F |
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,987,835 (GRCm39) |
A524T |
probably benign |
Het |
| Adcy10 |
T |
A |
1: 165,384,360 (GRCm39) |
N1040K |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,312,798 (GRCm39) |
D9G |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,679,604 (GRCm39) |
T391A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,497,991 (GRCm39) |
V344A |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,573,099 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cfap126 |
G |
A |
1: 170,952,881 (GRCm39) |
D45N |
probably damaging |
Het |
| Cfap299 |
T |
A |
5: 98,949,730 (GRCm39) |
H221Q |
probably benign |
Het |
| Cit |
G |
A |
5: 116,135,913 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,960 (GRCm39) |
D27G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,961,355 (GRCm39) |
Q867* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,667,615 (GRCm39) |
S793P |
probably benign |
Het |
| Foxb1 |
T |
A |
9: 69,667,503 (GRCm39) |
Y9F |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,785,279 (GRCm39) |
M406K |
probably benign |
Het |
| Gsg1 |
T |
C |
6: 135,214,574 (GRCm39) |
T312A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,545,238 (GRCm39) |
I2790F |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Lmntd1 |
AGACTGTAAGTTTCTCAAATGTGTACCTGGA |
AGA |
6: 145,372,979 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
A |
G |
8: 18,681,906 (GRCm39) |
K348E |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,758 (GRCm39) |
N71K |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,595 (GRCm39) |
I221V |
probably damaging |
Het |
| Pik3cg |
T |
A |
12: 32,254,902 (GRCm39) |
R362W |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,669,623 (GRCm39) |
L765P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,477,245 (GRCm39) |
I1252F |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,181 (GRCm39) |
F1154S |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,514,523 (GRCm39) |
F1084L |
probably damaging |
Het |
| Shmt1 |
G |
A |
11: 60,695,173 (GRCm39) |
S47L |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,761,486 (GRCm39) |
K40R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,920,527 (GRCm39) |
T421S |
possibly damaging |
Het |
| Speer4f1 |
T |
A |
5: 17,683,754 (GRCm39) |
N139K |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,151,789 (GRCm39) |
N1883K |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,578,290 (GRCm39) |
N310K |
possibly damaging |
Het |
| Trim3 |
T |
C |
7: 105,267,417 (GRCm39) |
T321A |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,293,974 (GRCm39) |
I687T |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,523 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,574,409 (GRCm39) |
I345V |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,003,913 (GRCm39) |
H406R |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTCAGGGCTAAGGA -3'
(R):5'- GGGGTTACAGGCAAGCACTA -3'
Sequencing Primer
(F):5'- GGGGCACATCTGTAATCTTAGCAC -3'
(R):5'- GTGTGACAAGTTCTTTAACCGCCG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation