Incidental Mutation 'R1878:Col19a1'
| ID |
211274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
039899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24356476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 672
(D672E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
| AlphaFold |
Q0VF58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051344
AA Change: D672E
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: D672E
| 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
AA Change: D672E
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: D672E
| 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 |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,825,564 (GRCm39) |
|
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,228,199 (GRCm39) |
V14A |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,007,362 (GRCm39) |
D950G |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,603,074 (GRCm39) |
D828G |
possibly damaging |
Het |
| Ak2 |
T |
A |
4: 128,895,960 (GRCm39) |
V79D |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,805,020 (GRCm39) |
Y870H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,134,363 (GRCm39) |
K1222E |
probably damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,708 (GRCm39) |
D37E |
probably damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,616 (GRCm39) |
M166K |
probably benign |
Het |
| Cep97 |
G |
T |
16: 55,725,589 (GRCm39) |
P766Q |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,450,622 (GRCm39) |
D103G |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,460 (GRCm39) |
E484G |
probably benign |
Het |
| Dph1 |
T |
C |
11: 75,075,053 (GRCm39) |
D100G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,348,831 (GRCm39) |
I100F |
possibly damaging |
Het |
| Fam222b |
T |
C |
11: 78,034,042 (GRCm39) |
|
probably null |
Het |
| Folh1 |
A |
T |
7: 86,420,950 (GRCm39) |
H126Q |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,615,212 (GRCm39) |
D428E |
probably benign |
Het |
| Gfus |
A |
G |
15: 75,797,218 (GRCm39) |
S306P |
probably benign |
Het |
| Gm11564 |
A |
T |
11: 99,706,266 (GRCm39) |
C55S |
unknown |
Het |
| Gne |
T |
C |
4: 44,040,434 (GRCm39) |
I577V |
probably damaging |
Het |
| Gpr4 |
A |
G |
7: 18,957,049 (GRCm39) |
T324A |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,319 (GRCm39) |
N542I |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,335,858 (GRCm39) |
|
probably null |
Het |
| Irgm1 |
C |
T |
11: 48,756,897 (GRCm39) |
V305I |
probably benign |
Het |
| Itgal |
C |
A |
7: 126,909,843 (GRCm39) |
Q73K |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,673,857 (GRCm39) |
H540N |
possibly damaging |
Het |
| Jkamp |
T |
A |
12: 72,140,878 (GRCm39) |
V141D |
possibly damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,522,938 (GRCm39) |
|
probably null |
Het |
| Mcc |
T |
C |
18: 44,601,467 (GRCm39) |
R621G |
possibly damaging |
Het |
| Myd88 |
T |
A |
9: 119,167,686 (GRCm39) |
Q140L |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,028 (GRCm39) |
N323K |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,253,721 (GRCm39) |
R265W |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,169 (GRCm39) |
S256R |
probably damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,400,027 (GRCm39) |
S418A |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,762,489 (GRCm39) |
T269A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,943,077 (GRCm39) |
N144S |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,631,303 (GRCm39) |
T24I |
probably benign |
Het |
| Obscn |
T |
G |
11: 58,886,379 (GRCm39) |
Y2347S |
probably damaging |
Het |
| Or10d5 |
T |
A |
9: 39,862,053 (GRCm39) |
T5S |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,253 (GRCm39) |
V121A |
probably benign |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or2aj5 |
G |
T |
16: 19,424,501 (GRCm39) |
Q306K |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,265 (GRCm39) |
I43T |
probably benign |
Het |
| Or4c105 |
A |
G |
2: 88,647,805 (GRCm39) |
T97A |
probably benign |
Het |
| Or51v8 |
A |
C |
7: 103,319,389 (GRCm39) |
M283R |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,639 (GRCm39) |
M200K |
possibly damaging |
Het |
| Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,215 (GRCm39) |
K398N |
possibly damaging |
Het |
| Pcnp |
A |
T |
16: 55,838,850 (GRCm39) |
M143K |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,639 (GRCm39) |
I71V |
probably benign |
Het |
| Ppp4c |
G |
T |
7: 126,386,779 (GRCm39) |
R103S |
probably damaging |
Het |
| Prl2c2 |
T |
A |
13: 13,179,911 (GRCm39) |
M1L |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,785,927 (GRCm39) |
D615E |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,333,461 (GRCm39) |
E728G |
probably damaging |
Het |
| Rps27l |
T |
A |
9: 66,854,911 (GRCm39) |
|
probably null |
Het |
| Scube3 |
T |
A |
17: 28,371,387 (GRCm39) |
V34E |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,623,089 (GRCm39) |
I154T |
probably damaging |
Het |
| Sgsm1 |
G |
A |
5: 113,411,381 (GRCm39) |
L782F |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,289,398 (GRCm39) |
V36A |
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,266,165 (GRCm39) |
|
probably null |
Het |
| Sohlh2 |
C |
A |
3: 55,115,064 (GRCm39) |
R350S |
probably damaging |
Het |
| Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,436,300 (GRCm39) |
A1217T |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,898,423 (GRCm39) |
S1018P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,755 (GRCm39) |
E117G |
possibly damaging |
Het |
| Syt17 |
A |
T |
7: 118,033,468 (GRCm39) |
M180K |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,548,516 (GRCm39) |
S18P |
possibly damaging |
Het |
| Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,548,561 (GRCm39) |
H611P |
probably damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,989 (GRCm39) |
C437S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,891 (GRCm39) |
E440G |
probably damaging |
Het |
| Zfp764 |
C |
A |
7: 127,004,214 (GRCm39) |
A306S |
probably benign |
Het |
| Zfp949 |
T |
A |
9: 88,451,356 (GRCm39) |
S309T |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,939,405 (GRCm39) |
N826D |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCACACTGGAGGTAACG -3'
(R):5'- TGGATTGCCAGGAACTCCAG -3'
Sequencing Primer
(F):5'- CCCTTAGGAGATAAGTATGCATCTC -3'
(R):5'- TTGCCAGGAACTCCAGGGATG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation