Incidental Mutation 'IGL02040:Col19a1'
ID |
184720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col19a1
|
Ensembl Gene |
ENSMUSG00000026141 |
Gene Name |
collagen, type XIX, alpha 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02040
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 24351126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
AlphaFold |
Q0VF58 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051344
|
SMART Domains |
Protein: ENSMUSP00000052606 Gene: ENSMUSG00000026141
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
TSPN
|
47 |
231 |
1.61e-63 |
SMART |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
Pfam:Collagen
|
288 |
349 |
1e-9 |
PFAM |
Pfam:Collagen
|
325 |
391 |
2.2e-10 |
PFAM |
Pfam:Collagen
|
376 |
442 |
1.4e-8 |
PFAM |
Pfam:Collagen
|
436 |
500 |
2.9e-9 |
PFAM |
Pfam:Collagen
|
474 |
536 |
6.3e-10 |
PFAM |
Pfam:Collagen
|
519 |
579 |
5.6e-10 |
PFAM |
Pfam:Collagen
|
559 |
620 |
1.2e-8 |
PFAM |
Pfam:Collagen
|
619 |
675 |
8.7e-11 |
PFAM |
Pfam:Collagen
|
697 |
774 |
2.4e-8 |
PFAM |
Pfam:Collagen
|
753 |
819 |
8.7e-10 |
PFAM |
Pfam:Collagen
|
831 |
892 |
8.8e-12 |
PFAM |
internal_repeat_2
|
905 |
943 |
3.52e-11 |
PROSPERO |
internal_repeat_1
|
905 |
980 |
8.61e-26 |
PROSPERO |
internal_repeat_2
|
947 |
982 |
3.52e-11 |
PROSPERO |
low complexity region
|
983 |
1003 |
N/A |
INTRINSIC |
low complexity region
|
1030 |
1042 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115244
|
SMART Domains |
Protein: ENSMUSP00000110899 Gene: ENSMUSG00000026141
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
TSPN
|
47 |
231 |
1.61e-63 |
SMART |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
Pfam:Collagen
|
288 |
347 |
3.1e-9 |
PFAM |
Pfam:Collagen
|
330 |
391 |
1.1e-9 |
PFAM |
internal_repeat_4
|
455 |
492 |
1.88e-5 |
PROSPERO |
Pfam:Collagen
|
519 |
579 |
2e-9 |
PFAM |
Pfam:Collagen
|
559 |
620 |
4.9e-8 |
PFAM |
Pfam:Collagen
|
619 |
675 |
3.5e-10 |
PFAM |
low complexity region
|
723 |
741 |
N/A |
INTRINSIC |
Pfam:Collagen
|
753 |
819 |
2.8e-9 |
PFAM |
Pfam:Collagen
|
831 |
892 |
3.9e-11 |
PFAM |
internal_repeat_2
|
905 |
943 |
1.18e-11 |
PROSPERO |
internal_repeat_1
|
905 |
980 |
8.89e-27 |
PROSPERO |
internal_repeat_2
|
947 |
982 |
1.18e-11 |
PROSPERO |
low complexity region
|
983 |
1003 |
N/A |
INTRINSIC |
low complexity region
|
1048 |
1069 |
N/A |
INTRINSIC |
low complexity region
|
1078 |
1115 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144297
|
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 the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
T |
G |
5: 3,630,405 (GRCm39) |
F107C |
probably damaging |
Het |
4930590J08Rik |
T |
C |
6: 91,895,091 (GRCm39) |
V262A |
probably benign |
Het |
A830018L16Rik |
T |
A |
1: 12,003,822 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
T |
C |
15: 74,413,424 (GRCm39) |
V536A |
possibly damaging |
Het |
Ano6 |
T |
G |
15: 95,853,825 (GRCm39) |
I667R |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
Azin2 |
G |
T |
4: 128,844,451 (GRCm39) |
L37M |
possibly damaging |
Het |
Caap1 |
A |
G |
4: 94,438,667 (GRCm39) |
I174T |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,616,585 (GRCm39) |
V46A |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,289 (GRCm39) |
D196G |
probably damaging |
Het |
Defb22 |
G |
T |
2: 152,331,976 (GRCm39) |
T19K |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,603,558 (GRCm39) |
I2211V |
probably benign |
Het |
Ecel1 |
A |
C |
1: 87,082,645 (GRCm39) |
C23G |
probably benign |
Het |
Elmod2 |
A |
G |
8: 84,048,126 (GRCm39) |
V112A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,531,754 (GRCm39) |
K510E |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,081,694 (GRCm39) |
S1113R |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,971,181 (GRCm39) |
D653E |
possibly damaging |
Het |
Exd1 |
A |
G |
2: 119,370,546 (GRCm39) |
V54A |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,963,004 (GRCm39) |
|
probably benign |
Het |
Fnbp1l |
A |
G |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
Foxf1 |
A |
G |
8: 121,812,084 (GRCm39) |
N316S |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,218,495 (GRCm39) |
V426A |
probably benign |
Het |
Gpc2 |
A |
G |
5: 138,274,844 (GRCm39) |
|
probably null |
Het |
Hnrnpab |
A |
G |
11: 51,492,622 (GRCm39) |
|
probably benign |
Het |
Hsf4 |
T |
G |
8: 106,002,299 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
G |
T |
1: 37,435,166 (GRCm39) |
R179L |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,704,919 (GRCm39) |
M361L |
probably benign |
Het |
Kif15 |
A |
C |
9: 122,846,450 (GRCm39) |
Y117S |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,765,167 (GRCm39) |
H761R |
probably benign |
Het |
Masp2 |
G |
T |
4: 148,688,270 (GRCm39) |
C180F |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,910,613 (GRCm39) |
E261G |
probably damaging |
Het |
Mtmr7 |
T |
C |
8: 41,013,926 (GRCm39) |
I211V |
probably benign |
Het |
Nsd2 |
T |
C |
5: 34,024,915 (GRCm39) |
|
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,907 (GRCm39) |
I157T |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,652,614 (GRCm39) |
N44S |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,910 (GRCm39) |
|
probably benign |
Het |
Or8j3c |
A |
G |
2: 86,253,336 (GRCm39) |
I228T |
probably damaging |
Het |
Oxct1 |
G |
A |
15: 4,056,250 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
G |
7: 3,824,516 (GRCm39) |
|
probably benign |
Het |
Plbd2 |
C |
T |
5: 120,625,507 (GRCm39) |
S430N |
probably damaging |
Het |
Postn |
A |
G |
3: 54,270,110 (GRCm39) |
K63R |
probably benign |
Het |
Pramel19 |
G |
A |
4: 101,798,331 (GRCm39) |
V101I |
possibly damaging |
Het |
Proc |
A |
T |
18: 32,267,913 (GRCm39) |
V75E |
probably benign |
Het |
Ptprt |
T |
C |
2: 162,079,992 (GRCm39) |
Y269C |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,447,902 (GRCm39) |
V476A |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,823,623 (GRCm39) |
V41A |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 51,992,018 (GRCm39) |
I1402F |
probably damaging |
Het |
Rpgrip1 |
C |
T |
14: 52,358,476 (GRCm39) |
T194I |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,119,452 (GRCm39) |
|
probably benign |
Het |
Skint4 |
T |
C |
4: 112,003,679 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,903,725 (GRCm39) |
S1545T |
probably benign |
Het |
Tpra1 |
A |
T |
6: 88,887,164 (GRCm39) |
H168L |
possibly damaging |
Het |
Trim47 |
T |
C |
11: 115,998,734 (GRCm39) |
E295G |
probably damaging |
Het |
Ttc28 |
T |
A |
5: 111,040,802 (GRCm39) |
C63* |
probably null |
Het |
Usp45 |
G |
A |
4: 21,830,433 (GRCm39) |
R696H |
probably benign |
Het |
Zfyve27 |
G |
A |
19: 42,167,830 (GRCm39) |
R124Q |
probably damaging |
Het |
|
Other mutations in Col19a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Col19a1
|
APN |
1 |
24,600,387 (GRCm39) |
missense |
unknown |
|
IGL00514:Col19a1
|
APN |
1 |
24,576,013 (GRCm39) |
missense |
unknown |
|
IGL00756:Col19a1
|
APN |
1 |
24,362,023 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01408:Col19a1
|
APN |
1 |
24,345,331 (GRCm39) |
splice site |
probably benign |
|
IGL01608:Col19a1
|
APN |
1 |
24,321,626 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01664:Col19a1
|
APN |
1 |
24,600,416 (GRCm39) |
missense |
unknown |
|
IGL01906:Col19a1
|
APN |
1 |
24,356,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01916:Col19a1
|
APN |
1 |
24,573,322 (GRCm39) |
missense |
unknown |
|
IGL02407:Col19a1
|
APN |
1 |
24,351,453 (GRCm39) |
splice site |
probably null |
|
IGL02505:Col19a1
|
APN |
1 |
24,339,665 (GRCm39) |
splice site |
probably benign |
|
IGL02606:Col19a1
|
APN |
1 |
24,573,197 (GRCm39) |
nonsense |
probably null |
|
IGL02659:Col19a1
|
APN |
1 |
24,573,115 (GRCm39) |
missense |
unknown |
|
IGL02815:Col19a1
|
APN |
1 |
24,324,332 (GRCm39) |
splice site |
probably null |
|
IGL02880:Col19a1
|
APN |
1 |
24,365,054 (GRCm39) |
splice site |
probably benign |
|
IGL02897:Col19a1
|
APN |
1 |
24,573,179 (GRCm39) |
missense |
unknown |
|
IGL03102:Col19a1
|
APN |
1 |
24,367,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0038:Col19a1
|
UTSW |
1 |
24,598,825 (GRCm39) |
missense |
unknown |
|
R0109:Col19a1
|
UTSW |
1 |
24,598,849 (GRCm39) |
splice site |
probably null |
|
R0124:Col19a1
|
UTSW |
1 |
24,565,539 (GRCm39) |
missense |
unknown |
|
R0326:Col19a1
|
UTSW |
1 |
24,324,132 (GRCm39) |
critical splice donor site |
probably null |
|
R0390:Col19a1
|
UTSW |
1 |
24,328,736 (GRCm39) |
splice site |
probably benign |
|
R0675:Col19a1
|
UTSW |
1 |
24,614,536 (GRCm39) |
start gained |
probably benign |
|
R0826:Col19a1
|
UTSW |
1 |
24,565,467 (GRCm39) |
missense |
unknown |
|
R0948:Col19a1
|
UTSW |
1 |
24,335,882 (GRCm39) |
missense |
probably damaging |
0.98 |
R1014:Col19a1
|
UTSW |
1 |
24,340,354 (GRCm39) |
critical splice donor site |
probably null |
|
R1619:Col19a1
|
UTSW |
1 |
24,573,172 (GRCm39) |
missense |
unknown |
|
R1691:Col19a1
|
UTSW |
1 |
24,576,022 (GRCm39) |
missense |
unknown |
|
R1878:Col19a1
|
UTSW |
1 |
24,356,476 (GRCm39) |
missense |
probably benign |
0.40 |
R1901:Col19a1
|
UTSW |
1 |
24,576,078 (GRCm39) |
missense |
unknown |
|
R1928:Col19a1
|
UTSW |
1 |
24,490,835 (GRCm39) |
splice site |
probably benign |
|
R1940:Col19a1
|
UTSW |
1 |
24,303,831 (GRCm39) |
nonsense |
probably null |
|
R2015:Col19a1
|
UTSW |
1 |
24,598,834 (GRCm39) |
missense |
unknown |
|
R2571:Col19a1
|
UTSW |
1 |
24,413,712 (GRCm39) |
missense |
unknown |
|
R2844:Col19a1
|
UTSW |
1 |
24,598,762 (GRCm39) |
missense |
unknown |
|
R2845:Col19a1
|
UTSW |
1 |
24,598,762 (GRCm39) |
missense |
unknown |
|
R3107:Col19a1
|
UTSW |
1 |
24,377,017 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3861:Col19a1
|
UTSW |
1 |
24,365,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R3872:Col19a1
|
UTSW |
1 |
24,614,408 (GRCm39) |
splice site |
probably benign |
|
R4180:Col19a1
|
UTSW |
1 |
24,309,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R4195:Col19a1
|
UTSW |
1 |
24,573,133 (GRCm39) |
missense |
unknown |
|
R4196:Col19a1
|
UTSW |
1 |
24,573,133 (GRCm39) |
missense |
unknown |
|
R4234:Col19a1
|
UTSW |
1 |
24,354,476 (GRCm39) |
splice site |
probably null |
|
R4250:Col19a1
|
UTSW |
1 |
24,564,726 (GRCm39) |
missense |
unknown |
|
R4396:Col19a1
|
UTSW |
1 |
24,549,947 (GRCm39) |
missense |
unknown |
|
R4405:Col19a1
|
UTSW |
1 |
24,573,190 (GRCm39) |
missense |
unknown |
|
R4450:Col19a1
|
UTSW |
1 |
24,361,116 (GRCm39) |
missense |
probably damaging |
0.96 |
R4583:Col19a1
|
UTSW |
1 |
24,600,410 (GRCm39) |
missense |
unknown |
|
R4980:Col19a1
|
UTSW |
1 |
24,565,564 (GRCm39) |
missense |
unknown |
|
R5222:Col19a1
|
UTSW |
1 |
24,598,721 (GRCm39) |
splice site |
probably null |
|
R5407:Col19a1
|
UTSW |
1 |
24,342,575 (GRCm39) |
missense |
probably damaging |
0.99 |
R5439:Col19a1
|
UTSW |
1 |
24,332,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Col19a1
|
UTSW |
1 |
24,376,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R5740:Col19a1
|
UTSW |
1 |
24,376,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R5891:Col19a1
|
UTSW |
1 |
24,328,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5996:Col19a1
|
UTSW |
1 |
24,367,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R6074:Col19a1
|
UTSW |
1 |
24,565,564 (GRCm39) |
missense |
unknown |
|
R6152:Col19a1
|
UTSW |
1 |
24,413,702 (GRCm39) |
missense |
unknown |
|
R6191:Col19a1
|
UTSW |
1 |
24,356,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6236:Col19a1
|
UTSW |
1 |
24,319,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R6315:Col19a1
|
UTSW |
1 |
24,565,533 (GRCm39) |
missense |
unknown |
|
R6709:Col19a1
|
UTSW |
1 |
24,321,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6748:Col19a1
|
UTSW |
1 |
24,573,151 (GRCm39) |
missense |
unknown |
|
R7098:Col19a1
|
UTSW |
1 |
24,565,555 (GRCm39) |
missense |
unknown |
|
R7114:Col19a1
|
UTSW |
1 |
24,377,017 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7292:Col19a1
|
UTSW |
1 |
24,569,089 (GRCm39) |
missense |
unknown |
|
R7392:Col19a1
|
UTSW |
1 |
24,573,115 (GRCm39) |
missense |
unknown |
|
R7478:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7480:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7512:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7618:Col19a1
|
UTSW |
1 |
24,361,165 (GRCm39) |
missense |
probably benign |
0.07 |
R7698:Col19a1
|
UTSW |
1 |
24,351,159 (GRCm39) |
missense |
probably benign |
0.09 |
R7711:Col19a1
|
UTSW |
1 |
24,569,089 (GRCm39) |
missense |
unknown |
|
R7725:Col19a1
|
UTSW |
1 |
24,309,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7831:Col19a1
|
UTSW |
1 |
24,565,563 (GRCm39) |
missense |
unknown |
|
R8252:Col19a1
|
UTSW |
1 |
24,319,048 (GRCm39) |
missense |
probably benign |
0.05 |
R8728:Col19a1
|
UTSW |
1 |
24,365,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R9057:Col19a1
|
UTSW |
1 |
24,549,962 (GRCm39) |
missense |
unknown |
|
R9210:Col19a1
|
UTSW |
1 |
24,500,555 (GRCm39) |
critical splice donor site |
probably null |
|
R9212:Col19a1
|
UTSW |
1 |
24,500,555 (GRCm39) |
critical splice donor site |
probably null |
|
R9712:Col19a1
|
UTSW |
1 |
24,367,148 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9777:Col19a1
|
UTSW |
1 |
24,318,904 (GRCm39) |
missense |
unknown |
|
Z1088:Col19a1
|
UTSW |
1 |
24,319,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |