Incidental Mutation 'R9777:Col19a1'
ID |
733750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col19a1
|
Ensembl Gene |
ENSMUSG00000026141 |
Gene Name |
collagen, type XIX, alpha 1 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9777 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24318904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1062
(V1062A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
AlphaFold |
Q0VF58 |
Predicted Effect |
unknown
Transcript: ENSMUST00000051344
AA Change: V1062A
|
SMART Domains |
Protein: ENSMUSP00000052606 Gene: ENSMUSG00000026141 AA Change: V1062A
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 benign
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
C |
10: 10,283,214 (GRCm39) |
M164R |
possibly damaging |
Het |
Alg10b |
T |
A |
15: 90,111,656 (GRCm39) |
C167S |
probably benign |
Het |
Ap2m1 |
C |
A |
16: 20,358,113 (GRCm39) |
R44S |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,902,964 (GRCm39) |
S37G |
probably benign |
Het |
Bicra |
C |
T |
7: 15,705,987 (GRCm39) |
V1485M |
probably benign |
Het |
Brca2 |
C |
T |
5: 150,480,579 (GRCm39) |
T2755I |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,618,860 (GRCm39) |
A895T |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,354,529 (GRCm39) |
M871T |
probably benign |
Het |
Col24a1 |
T |
A |
3: 145,021,103 (GRCm39) |
Y491* |
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,102,520 (GRCm39) |
I50F |
probably benign |
Het |
Dbn1 |
C |
A |
13: 55,625,639 (GRCm39) |
R261L |
probably benign |
Het |
Dlat |
G |
A |
9: 50,562,208 (GRCm39) |
A272V |
probably damaging |
Het |
Dlgap3 |
A |
T |
4: 127,130,127 (GRCm39) |
E967V |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,369,456 (GRCm39) |
M4360V |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,877,464 (GRCm39) |
R1058Q |
unknown |
Het |
Dpp4 |
T |
A |
2: 62,195,340 (GRCm39) |
I313F |
probably benign |
Het |
Dus1l |
C |
T |
11: 120,683,858 (GRCm39) |
V197I |
possibly damaging |
Het |
Eef2k |
TATTCATTCATTCATTCATTCATTCATTCA |
TATTCATTCATTCATTCATTCATTCA |
7: 120,499,453 (GRCm39) |
|
probably benign |
Het |
Fat3 |
A |
G |
9: 15,826,537 (GRCm39) |
S324P |
probably benign |
Het |
Fkbp9 |
C |
T |
6: 56,855,181 (GRCm39) |
H567Y |
possibly damaging |
Het |
Galnt10 |
C |
A |
11: 57,672,065 (GRCm39) |
P452T |
probably damaging |
Het |
Glb1 |
A |
T |
9: 114,246,084 (GRCm39) |
D45V |
probably damaging |
Het |
Grm1 |
A |
T |
10: 10,573,826 (GRCm39) |
V904E |
possibly damaging |
Het |
Gsdma3 |
T |
G |
11: 98,526,071 (GRCm39) |
V274G |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,194,600 (GRCm39) |
E681G |
probably damaging |
Het |
Hpdl |
A |
G |
4: 116,678,062 (GRCm39) |
L133P |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,797,655 (GRCm39) |
L89P |
probably damaging |
Het |
Igsf21 |
T |
A |
4: 139,755,407 (GRCm39) |
Q416L |
probably damaging |
Het |
Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
Ildr1 |
A |
G |
16: 36,528,659 (GRCm39) |
T35A |
probably benign |
Het |
Ints13 |
G |
T |
6: 146,463,326 (GRCm39) |
H235Q |
probably damaging |
Het |
Lama4 |
C |
T |
10: 38,924,101 (GRCm39) |
T503I |
probably benign |
Het |
Mapk13 |
T |
A |
17: 28,997,075 (GRCm39) |
L289Q |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,887,024 (GRCm39) |
S1642P |
probably benign |
Het |
Megf6 |
T |
A |
4: 154,343,617 (GRCm39) |
S713R |
probably damaging |
Het |
Mical3 |
A |
G |
6: 120,959,529 (GRCm39) |
V922A |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,857,864 (GRCm39) |
T1119M |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,733,080 (GRCm39) |
M1370K |
possibly damaging |
Het |
Ndufa12 |
A |
G |
10: 94,056,692 (GRCm39) |
E140G |
probably damaging |
Het |
Nek4 |
T |
A |
14: 30,706,401 (GRCm39) |
D696E |
probably benign |
Het |
Oas1f |
A |
G |
5: 120,994,429 (GRCm39) |
T317A |
probably benign |
Het |
Or14c39 |
T |
C |
7: 86,343,988 (GRCm39) |
V108A |
probably benign |
Het |
Or2r11 |
A |
G |
6: 42,437,029 (GRCm39) |
I308T |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,495,705 (GRCm39) |
I10T |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,683,683 (GRCm39) |
P50L |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,894,256 (GRCm39) |
E261G |
probably benign |
Het |
Pira12 |
T |
G |
7: 3,897,612 (GRCm39) |
R494S |
probably damaging |
Het |
Ppp1r1a |
T |
C |
15: 103,439,857 (GRCm39) |
E145G |
possibly damaging |
Het |
Ppp1r37 |
T |
C |
7: 19,295,783 (GRCm39) |
E58G |
probably benign |
Het |
Ptprc |
A |
T |
1: 138,047,901 (GRCm39) |
V77E |
|
Het |
Rhag |
A |
G |
17: 41,139,416 (GRCm39) |
E117G |
probably benign |
Het |
Sh3d19 |
C |
T |
3: 86,028,483 (GRCm39) |
S653L |
probably benign |
Het |
Sirpd |
C |
A |
3: 15,385,813 (GRCm39) |
E30* |
probably null |
Het |
Slc35a5 |
C |
T |
16: 44,972,939 (GRCm39) |
|
probably null |
Het |
Smc4 |
C |
T |
3: 68,929,655 (GRCm39) |
R510* |
probably null |
Het |
Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
Sp140 |
A |
G |
1: 85,569,461 (GRCm39) |
N357S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,514,421 (GRCm39) |
T60S |
possibly damaging |
Het |
Steap1 |
C |
A |
5: 5,786,517 (GRCm39) |
A307S |
probably benign |
Het |
Stk3 |
A |
T |
15: 35,114,791 (GRCm39) |
S40R |
probably damaging |
Het |
Taar1 |
T |
C |
10: 23,796,676 (GRCm39) |
C125R |
probably damaging |
Het |
Tep1 |
T |
A |
14: 51,076,443 (GRCm39) |
K1664* |
probably null |
Het |
Tmem198b |
C |
A |
10: 128,638,273 (GRCm39) |
V97L |
possibly damaging |
Het |
Xirp2 |
C |
A |
2: 67,347,379 (GRCm39) |
P3207T |
possibly damaging |
Het |
Zbtb38 |
C |
G |
9: 96,570,355 (GRCm39) |
S243T |
possibly damaging |
Het |
Zbtb38 |
T |
A |
9: 96,570,356 (GRCm39) |
S243C |
probably damaging |
Het |
Zfp692 |
C |
T |
11: 58,199,638 (GRCm39) |
R76W |
probably benign |
Het |
Zwilch |
A |
T |
9: 64,054,170 (GRCm39) |
L509H |
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 |
|
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 |
Z1088:Col19a1
|
UTSW |
1 |
24,319,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATCAATCCAGCATCTCCC -3'
(R):5'- TTCTTCCTGTAGGCTGATGC -3'
Sequencing Primer
(F):5'- GAGCTAGATGTACTTACTCTATAGGG -3'
(R):5'- CCTGTAGGCTGATGCTGTTTC -3'
|
Posted On |
2022-11-14 |