Incidental Mutation 'R6236:Col19a1'
ID |
504921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col19a1
|
Ensembl Gene |
ENSMUSG00000026141 |
Gene Name |
collagen, type XIX, alpha 1 |
Synonyms |
|
MMRRC Submission |
044400-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24319030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1020
(V1020A)
|
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: V1020A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000052606 Gene: ENSMUSG00000026141 AA Change: V1020A
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: V1020A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110899 Gene: ENSMUSG00000026141 AA Change: V1020A
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 |
0.1129 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (57/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
A |
G |
4: 155,989,664 (GRCm39) |
T703A |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,427,127 (GRCm39) |
A49T |
probably benign |
Het |
Acer1 |
T |
A |
17: 57,262,231 (GRCm39) |
I224F |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,367,678 (GRCm39) |
D161G |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,948,887 (GRCm39) |
I111V |
probably benign |
Het |
Cfap210 |
A |
C |
2: 69,588,385 (GRCm39) |
|
probably null |
Het |
Chst14 |
T |
A |
2: 118,757,997 (GRCm39) |
C264S |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,870,542 (GRCm39) |
T339A |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,045,608 (GRCm39) |
K201R |
probably benign |
Het |
Cts6 |
C |
A |
13: 61,344,192 (GRCm39) |
E287* |
probably null |
Het |
Dbf4 |
T |
C |
5: 8,448,579 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
G |
A |
14: 87,275,004 (GRCm39) |
R140* |
probably null |
Het |
Faah |
T |
C |
4: 115,856,786 (GRCm39) |
I459V |
probably benign |
Het |
Fbxw2 |
A |
T |
2: 34,712,845 (GRCm39) |
L72H |
probably damaging |
Het |
Fstl4 |
G |
A |
11: 53,077,162 (GRCm39) |
G640S |
probably benign |
Het |
Gabrb1 |
C |
T |
5: 72,265,663 (GRCm39) |
T186M |
probably damaging |
Het |
Gata2 |
T |
C |
6: 88,179,548 (GRCm39) |
|
probably null |
Het |
Ifi203 |
A |
G |
1: 173,761,479 (GRCm39) |
V190A |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,588,641 (GRCm39) |
E456G |
probably benign |
Het |
Kl |
A |
T |
5: 150,876,755 (GRCm39) |
T192S |
probably damaging |
Het |
Klhl3 |
G |
A |
13: 58,232,876 (GRCm39) |
A77V |
probably damaging |
Het |
Klri2 |
A |
G |
6: 129,715,858 (GRCm39) |
F114L |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,363,215 (GRCm39) |
R278* |
probably null |
Het |
Lrp5 |
A |
T |
19: 3,680,483 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
A |
11: 86,219,357 (GRCm39) |
H363L |
probably damaging |
Het |
Metap1d |
T |
G |
2: 71,346,022 (GRCm39) |
F194L |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,956 (GRCm39) |
K458E |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,081,157 (GRCm39) |
T1258A |
probably benign |
Het |
Nipbl |
T |
A |
15: 8,354,064 (GRCm39) |
D1691V |
possibly damaging |
Het |
Nr1i2 |
C |
T |
16: 38,086,300 (GRCm39) |
C55Y |
probably damaging |
Het |
Or11h7 |
T |
C |
14: 50,891,257 (GRCm39) |
S188P |
probably damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,409 (GRCm39) |
I50F |
possibly damaging |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,345 (GRCm39) |
Y247H |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Ric1 |
T |
A |
19: 29,572,826 (GRCm39) |
D755E |
possibly damaging |
Het |
Sez6l |
G |
T |
5: 112,623,110 (GRCm39) |
T147K |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,244,001 (GRCm39) |
F451S |
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,022,158 (GRCm39) |
T300I |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,673,613 (GRCm39) |
V1050A |
probably benign |
Het |
Spag1 |
T |
C |
15: 36,211,281 (GRCm39) |
S476P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,798,166 (GRCm39) |
S1964T |
probably benign |
Het |
Sucla2 |
T |
A |
14: 73,831,190 (GRCm39) |
D434E |
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,919,717 (GRCm39) |
T779I |
probably benign |
Het |
Tlr2 |
T |
A |
3: 83,745,438 (GRCm39) |
E215V |
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,437,281 (GRCm39) |
P227S |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,016,477 (GRCm39) |
S711T |
probably benign |
Het |
Traj32 |
T |
A |
14: 54,423,565 (GRCm39) |
Y2* |
probably null |
Het |
Trim34b |
A |
G |
7: 103,985,525 (GRCm39) |
R387G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp5 |
T |
C |
6: 124,795,441 (GRCm39) |
T651A |
probably benign |
Het |
Vmn1r188 |
T |
C |
13: 22,272,414 (GRCm39) |
S123P |
probably damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,543,918 (GRCm39) |
L66P |
probably damaging |
Het |
Zfp712 |
C |
T |
13: 67,188,685 (GRCm39) |
C614Y |
probably damaging |
Het |
Zfp827 |
A |
G |
8: 79,797,105 (GRCm39) |
K397R |
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 |
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'- GTCTTATTCACAAGCGACACGG -3'
(R):5'- ATTTACTGCCCAAAATAGCACACTG -3'
Sequencing Primer
(F):5'- TTATTCACAAGCGACACGGAAAGAC -3'
(R):5'- GCCAGAAGCATTTCACTTGAC -3'
|
Posted On |
2018-02-28 |