Incidental Mutation 'R6074:Col19a1'
ID |
482616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col19a1
|
Ensembl Gene |
ENSMUSG00000026141 |
Gene Name |
collagen, type XIX, alpha 1 |
Synonyms |
|
MMRRC Submission |
044235-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6074 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24565564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 256
(T256S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
AlphaFold |
Q0VF58 |
Predicted Effect |
unknown
Transcript: ENSMUST00000051344
AA Change: T256S
|
SMART Domains |
Protein: ENSMUSP00000052606 Gene: ENSMUSG00000026141 AA Change: T256S
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 |
unknown
Transcript: ENSMUST00000115244
AA Change: T256S
|
SMART Domains |
Protein: ENSMUSP00000110899 Gene: ENSMUSG00000026141 AA Change: T256S
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 |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (61/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amigo1 |
T |
A |
3: 108,099,009 (GRCm39) |
C189* |
probably null |
Het |
Auts2 |
G |
T |
5: 131,505,828 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
C |
A |
6: 23,626,670 (GRCm39) |
W177L |
probably damaging |
Het |
Camk2b |
G |
T |
11: 5,939,635 (GRCm39) |
P223Q |
probably damaging |
Het |
Ccdc74a |
C |
A |
16: 17,464,591 (GRCm39) |
S9* |
probably null |
Het |
Ccnt1 |
A |
C |
15: 98,441,205 (GRCm39) |
Y688D |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
Ceacam3 |
C |
T |
7: 16,885,484 (GRCm39) |
T29I |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,710,589 (GRCm39) |
S1473P |
probably damaging |
Het |
Eif2d |
T |
A |
1: 131,094,079 (GRCm39) |
D423E |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,966,723 (GRCm39) |
|
probably null |
Het |
Gaa |
G |
A |
11: 119,175,012 (GRCm39) |
R871H |
probably benign |
Het |
Galnt12 |
T |
A |
4: 47,112,405 (GRCm39) |
V37D |
probably damaging |
Het |
Glp2r |
A |
G |
11: 67,637,640 (GRCm39) |
S13P |
unknown |
Het |
Gnptab |
C |
T |
10: 88,268,940 (GRCm39) |
L548F |
probably damaging |
Het |
Heg1 |
C |
T |
16: 33,547,573 (GRCm39) |
P787S |
possibly damaging |
Het |
Hivep2 |
T |
A |
10: 14,007,485 (GRCm39) |
M1361K |
probably benign |
Het |
Hivep3 |
T |
C |
4: 119,954,891 (GRCm39) |
I1069T |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,268,046 (GRCm39) |
D2121G |
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,422,322 (GRCm39) |
|
probably null |
Het |
Ighv1-75 |
T |
C |
12: 115,798,007 (GRCm39) |
S4G |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,901,308 (GRCm39) |
|
probably benign |
Het |
Kcna6 |
A |
G |
6: 126,716,242 (GRCm39) |
S216P |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,865,095 (GRCm39) |
T526S |
probably benign |
Het |
Kng2 |
C |
T |
16: 22,819,346 (GRCm39) |
G230D |
probably benign |
Het |
Lgi2 |
A |
T |
5: 52,703,984 (GRCm39) |
F216I |
probably benign |
Het |
Lratd1 |
G |
A |
12: 14,200,512 (GRCm39) |
H72Y |
probably benign |
Het |
Lss |
T |
A |
10: 76,379,693 (GRCm39) |
N383K |
probably damaging |
Het |
Mical1 |
T |
C |
10: 41,362,061 (GRCm39) |
M929T |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Nat8f4 |
A |
G |
6: 85,878,169 (GRCm39) |
V118A |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,945 (GRCm39) |
N194K |
probably benign |
Het |
Or4p23 |
A |
C |
2: 88,576,566 (GRCm39) |
L222R |
probably damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,497 (GRCm39) |
T282M |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,030,335 (GRCm39) |
S188T |
probably benign |
Het |
Pea15a |
C |
T |
1: 172,026,752 (GRCm39) |
R85H |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,798,836 (GRCm39) |
I919T |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,835,968 (GRCm39) |
D232G |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,415,602 (GRCm39) |
S1837P |
probably benign |
Het |
Samd5 |
T |
A |
10: 9,550,334 (GRCm39) |
Y125F |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,662,397 (GRCm39) |
T597A |
unknown |
Het |
Slc25a12 |
A |
G |
2: 71,106,798 (GRCm39) |
F605L |
probably benign |
Het |
Slc39a12 |
C |
T |
2: 14,412,290 (GRCm39) |
Q321* |
probably null |
Het |
Slc6a19 |
T |
C |
13: 73,837,882 (GRCm39) |
S206G |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,227,165 (GRCm39) |
H1283Q |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,971 (GRCm39) |
E290G |
possibly damaging |
Het |
Timd2 |
C |
T |
11: 46,577,999 (GRCm39) |
G44D |
possibly damaging |
Het |
Tmem74 |
A |
G |
15: 43,730,134 (GRCm39) |
V303A |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,128,186 (GRCm39) |
V785A |
probably benign |
Het |
Tpra1 |
T |
A |
6: 88,888,919 (GRCm39) |
I367N |
possibly damaging |
Het |
Txnrd2 |
T |
C |
16: 18,256,297 (GRCm39) |
I95T |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,885,399 (GRCm39) |
V1216A |
probably benign |
Het |
Usp54 |
C |
A |
14: 20,602,167 (GRCm39) |
M1394I |
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,322,167 (GRCm39) |
F177L |
probably benign |
Het |
Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,805,596 (GRCm39) |
|
probably null |
Het |
Wnk2 |
A |
T |
13: 49,204,875 (GRCm39) |
C458S |
probably damaging |
Het |
Xkr6 |
T |
G |
14: 63,844,519 (GRCm39) |
F181V |
possibly damaging |
Het |
Zfp212 |
T |
A |
6: 47,903,986 (GRCm39) |
C149* |
probably null |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp661 |
A |
G |
2: 127,419,793 (GRCm39) |
S116P |
probably benign |
Het |
Zfp770 |
A |
G |
2: 114,026,870 (GRCm39) |
Y400H |
possibly 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 |
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'- TGAGATTTGACTAGGCATGAGGC -3'
(R):5'- ACACTGCAGGCTTAGTGATAG -3'
|
Posted On |
2017-07-14 |