Incidental Mutation 'R5996:Col19a1'
ID |
481100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col19a1
|
Ensembl Gene |
ENSMUSG00000026141 |
Gene Name |
collagen, type XIX, alpha 1 |
Synonyms |
|
MMRRC Submission |
044175-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5996 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24367152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 477
(G477R)
|
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: G477R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052606 Gene: ENSMUSG00000026141 AA Change: G477R
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: G477R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110899 Gene: ENSMUSG00000026141 AA Change: G477R
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
|
Meta Mutation Damage Score |
0.2135 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
97% (69/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
G |
11: 23,468,928 (GRCm39) |
M1T |
probably null |
Het |
A2m |
T |
A |
6: 121,636,353 (GRCm39) |
W741R |
probably damaging |
Het |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Acan |
A |
G |
7: 78,761,068 (GRCm39) |
T1927A |
probably damaging |
Het |
Agbl4 |
A |
G |
4: 110,812,869 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 36,985,265 (GRCm39) |
F865S |
probably benign |
Het |
Ccr8 |
T |
A |
9: 119,923,529 (GRCm39) |
C215S |
probably damaging |
Het |
Cd209b |
T |
C |
8: 3,968,688 (GRCm39) |
T314A |
probably benign |
Het |
Cd244a |
T |
G |
1: 171,409,208 (GRCm39) |
|
probably null |
Het |
Cdh23 |
T |
C |
10: 60,249,356 (GRCm39) |
E849G |
possibly damaging |
Het |
Cep57 |
A |
G |
9: 13,721,175 (GRCm39) |
V268A |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,163,305 (GRCm39) |
S626P |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,433,449 (GRCm39) |
D1498G |
unknown |
Het |
Coro6 |
T |
C |
11: 77,357,322 (GRCm39) |
V177A |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,742,210 (GRCm39) |
S202P |
possibly damaging |
Het |
Cxcr2 |
T |
C |
1: 74,197,619 (GRCm39) |
C38R |
probably damaging |
Het |
Cyp4f13 |
C |
T |
17: 33,148,447 (GRCm39) |
G327R |
possibly damaging |
Het |
Dab2 |
C |
T |
15: 6,464,792 (GRCm39) |
Q415* |
probably null |
Het |
Dennd5b |
A |
G |
6: 148,969,593 (GRCm39) |
F287L |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,908,057 (GRCm39) |
R6K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,614,033 (GRCm39) |
K429E |
probably damaging |
Het |
Fam107b |
T |
A |
2: 3,780,667 (GRCm39) |
|
probably null |
Het |
Flt4 |
A |
T |
11: 49,541,897 (GRCm39) |
D1360V |
probably damaging |
Het |
Gm1043 |
A |
T |
5: 37,317,168 (GRCm39) |
|
probably benign |
Het |
Gm4894 |
A |
T |
9: 49,189,970 (GRCm39) |
I82L |
unknown |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gpr176 |
A |
C |
2: 118,114,385 (GRCm39) |
|
probably null |
Het |
Gtse1 |
T |
C |
15: 85,748,381 (GRCm39) |
L262P |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,166,393 (GRCm39) |
W46R |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,662,955 (GRCm39) |
Y557C |
probably benign |
Het |
Kcnab2 |
A |
C |
4: 152,519,287 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
G |
A |
2: 63,014,441 (GRCm39) |
|
probably benign |
Het |
Ly9 |
T |
A |
1: 171,429,396 (GRCm39) |
Q230L |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,454,043 (GRCm39) |
H978N |
possibly damaging |
Het |
Map2k6 |
A |
G |
11: 110,388,732 (GRCm39) |
I225V |
possibly damaging |
Het |
Map3k13 |
A |
G |
16: 21,723,995 (GRCm39) |
N326D |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,844,537 (GRCm39) |
F85L |
probably benign |
Het |
Mmp13 |
C |
T |
9: 7,274,269 (GRCm39) |
P192L |
probably damaging |
Het |
Mrpl37 |
T |
C |
4: 106,923,704 (GRCm39) |
T97A |
probably benign |
Het |
Mycbpap |
C |
T |
11: 94,404,420 (GRCm39) |
G121D |
probably benign |
Het |
Nabp1 |
A |
G |
1: 51,510,544 (GRCm39) |
S153P |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,590,049 (GRCm39) |
F222I |
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,582,969 (GRCm39) |
V310A |
possibly damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,818,991 (GRCm39) |
D180V |
probably benign |
Het |
Pex6 |
C |
A |
17: 47,025,384 (GRCm39) |
|
probably null |
Het |
Phrf1 |
C |
A |
7: 140,839,015 (GRCm39) |
|
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,485,936 (GRCm39) |
T365A |
possibly damaging |
Het |
Ranbp10 |
A |
G |
8: 106,499,672 (GRCm39) |
M519T |
probably benign |
Het |
Rfx4 |
G |
A |
10: 84,675,881 (GRCm39) |
W32* |
probably null |
Het |
Ryr1 |
T |
C |
7: 28,723,666 (GRCm39) |
N4131S |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,745,306 (GRCm39) |
E580G |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,263,385 (GRCm39) |
D719G |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,878,310 (GRCm39) |
I273T |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,205,037 (GRCm39) |
E781G |
probably benign |
Het |
Sspo |
C |
T |
6: 48,471,110 (GRCm39) |
P4686S |
possibly damaging |
Het |
Stab1 |
G |
T |
14: 30,861,508 (GRCm39) |
R2500S |
probably benign |
Het |
Stox2 |
A |
T |
8: 47,656,182 (GRCm39) |
M98K |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,225,213 (GRCm39) |
S633P |
probably damaging |
Het |
Tex51 |
G |
T |
18: 32,595,545 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,037,491 (GRCm39) |
|
probably null |
Het |
Togaram2 |
T |
A |
17: 72,011,778 (GRCm39) |
F486I |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,797,113 (GRCm39) |
S140P |
possibly damaging |
Het |
Ttc29 |
A |
T |
8: 79,003,525 (GRCm39) |
N247I |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,340,589 (GRCm39) |
E668D |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,061,117 (GRCm39) |
|
probably null |
Het |
Xirp2 |
T |
A |
2: 67,341,994 (GRCm39) |
L1412I |
possibly damaging |
Het |
Xrcc5 |
T |
A |
1: 72,349,617 (GRCm39) |
D15E |
probably damaging |
Het |
Zfp661 |
T |
C |
2: 127,418,968 (GRCm39) |
K391E |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,741,977 (GRCm39) |
I106T |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,576,557 (GRCm39) |
S175A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACATGGTAGCACTTATCAAGG -3'
(R):5'- TCCGATGAGTGTATCCATCTTC -3'
Sequencing Primer
(F):5'- GTATTAGGCGCCAGACAA -3'
(R):5'- CACAATCAGAAGTTTTAGCCCTGGG -3'
|
Posted On |
2017-06-26 |