Incidental Mutation 'IGL01608:Col19a1'
ID |
91848 |
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 # |
IGL01608
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24321626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 961
(R961C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
AlphaFold |
Q0VF58 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051344
AA Change: R961C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052606 Gene: ENSMUSG00000026141 AA Change: R961C
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 damaging
Transcript: ENSMUST00000115244
AA Change: R961C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110899 Gene: ENSMUSG00000026141 AA Change: R961C
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,038,158 (GRCm39) |
L2068Q |
probably damaging |
Het |
Abca12 |
G |
T |
1: 71,298,601 (GRCm39) |
D2340E |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,092,535 (GRCm39) |
Y632C |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,592,855 (GRCm39) |
S311P |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Atf2 |
G |
T |
2: 73,649,422 (GRCm39) |
H396Q |
probably damaging |
Het |
Atp8a1 |
G |
A |
5: 67,970,479 (GRCm39) |
R74* |
probably null |
Het |
Brpf3 |
T |
C |
17: 29,040,491 (GRCm39) |
S971P |
probably benign |
Het |
Btn1a1 |
T |
C |
13: 23,645,778 (GRCm39) |
E197G |
probably benign |
Het |
Ccdc136 |
C |
T |
6: 29,406,113 (GRCm39) |
A87V |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,630,560 (GRCm39) |
L376P |
probably damaging |
Het |
Chrm3 |
G |
A |
13: 9,928,634 (GRCm39) |
A134V |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,837,528 (GRCm39) |
V1190A |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,389,614 (GRCm39) |
S515T |
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,117,311 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,186,776 (GRCm39) |
Y1708* |
probably null |
Het |
Glt1d1 |
A |
G |
5: 127,741,746 (GRCm39) |
N148S |
possibly damaging |
Het |
Gm20425 |
T |
A |
9: 103,068,293 (GRCm39) |
I44F |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,758,779 (GRCm39) |
K411* |
probably null |
Het |
Ipo11 |
A |
G |
13: 106,971,002 (GRCm39) |
|
probably benign |
Het |
Klri1 |
T |
A |
6: 129,675,130 (GRCm39) |
N210I |
possibly damaging |
Het |
Kmt2c |
C |
T |
5: 25,559,809 (GRCm39) |
V950M |
probably damaging |
Het |
Knop1 |
T |
C |
7: 118,445,019 (GRCm39) |
K315R |
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
Lrrc32 |
T |
A |
7: 98,148,564 (GRCm39) |
V448D |
probably benign |
Het |
Met |
T |
C |
6: 17,558,729 (GRCm39) |
V1119A |
probably damaging |
Het |
Minar1 |
T |
C |
9: 89,478,551 (GRCm39) |
T832A |
probably benign |
Het |
Mipep |
T |
A |
14: 61,039,679 (GRCm39) |
I236N |
possibly damaging |
Het |
Mrpl45 |
A |
G |
11: 97,207,747 (GRCm39) |
T81A |
probably benign |
Het |
Mtbp |
G |
T |
15: 55,421,085 (GRCm39) |
E24* |
probably null |
Het |
Muc5b |
C |
T |
7: 141,400,174 (GRCm39) |
T476I |
unknown |
Het |
Mup6 |
C |
T |
4: 60,006,021 (GRCm39) |
T163I |
probably benign |
Het |
Myo1g |
T |
A |
11: 6,466,780 (GRCm39) |
I278F |
possibly damaging |
Het |
Myo9a |
A |
T |
9: 59,778,119 (GRCm39) |
K1292* |
probably null |
Het |
Nbeal1 |
T |
A |
1: 60,281,694 (GRCm39) |
|
probably benign |
Het |
Nck1 |
C |
A |
9: 100,379,440 (GRCm39) |
R270S |
probably benign |
Het |
Neb |
T |
C |
2: 52,060,548 (GRCm39) |
E6035G |
probably damaging |
Het |
Nlrp4f |
A |
C |
13: 65,343,357 (GRCm39) |
L96* |
probably null |
Het |
Or11g1 |
A |
T |
14: 50,651,910 (GRCm39) |
H303L |
probably benign |
Het |
Or4a77 |
A |
T |
2: 89,486,835 (GRCm39) |
|
probably benign |
Het |
Or51l14 |
A |
T |
7: 103,101,011 (GRCm39) |
I156F |
probably benign |
Het |
Or5t18 |
A |
C |
2: 86,636,769 (GRCm39) |
Y191* |
probably null |
Het |
Padi2 |
A |
G |
4: 140,659,541 (GRCm39) |
E282G |
probably damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,441,803 (GRCm39) |
D371G |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,489,978 (GRCm39) |
D552G |
probably damaging |
Het |
Peli3 |
A |
G |
19: 4,982,855 (GRCm39) |
I270T |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,118,516 (GRCm39) |
M407V |
probably benign |
Het |
Ppm1h |
C |
T |
10: 122,777,185 (GRCm39) |
R103* |
probably null |
Het |
Rangap1 |
C |
T |
15: 81,593,705 (GRCm39) |
V457M |
probably benign |
Het |
Scube2 |
A |
G |
7: 109,442,461 (GRCm39) |
V257A |
probably benign |
Het |
Shc1 |
C |
A |
3: 89,332,156 (GRCm39) |
Q204K |
probably damaging |
Het |
Slc6a4 |
T |
A |
11: 76,917,961 (GRCm39) |
Y568N |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,923,439 (GRCm39) |
F7L |
probably benign |
Het |
St6galnac4 |
T |
A |
2: 32,484,098 (GRCm39) |
C99S |
probably damaging |
Het |
Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
Supt6 |
A |
T |
11: 78,116,309 (GRCm39) |
Y685N |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,869,418 (GRCm39) |
T256A |
probably benign |
Het |
Vmn1r74 |
A |
T |
7: 11,581,560 (GRCm39) |
I287F |
probably damaging |
Het |
Zmym2 |
C |
A |
14: 57,185,472 (GRCm39) |
Q1035K |
possibly damaging |
Het |
Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
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 |
|
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 |
|
IGL02040:Col19a1
|
APN |
1 |
24,351,126 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2013-12-09 |