Incidental Mutation 'R0432:Col27a1'
| ID |
38821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
038634-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63143848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 512
(M512T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036300
AA Change: M512T
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: M512T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
TSPN
|
43 |
223 |
1.1e-5 |
SMART |
|
low complexity region
|
325 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
597 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
609 |
670 |
2.1e-10 |
PFAM |
|
Pfam:Collagen
|
666 |
731 |
3.7e-10 |
PFAM |
|
low complexity region
|
790 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
946 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1012 |
1080 |
2.8e-8 |
PFAM |
|
Pfam:Collagen
|
1033 |
1103 |
3e-9 |
PFAM |
|
Pfam:Collagen
|
1063 |
1130 |
3.4e-9 |
PFAM |
|
low complexity region
|
1150 |
1168 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1207 |
1281 |
5.5e-9 |
PFAM |
|
Pfam:Collagen
|
1261 |
1324 |
8.4e-10 |
PFAM |
|
Pfam:Collagen
|
1323 |
1384 |
3.8e-12 |
PFAM |
|
low complexity region
|
1438 |
1466 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
1467 |
1502 |
1.5e-7 |
PROSPERO |
|
internal_repeat_2
|
1468 |
1529 |
1.96e-8 |
PROSPERO |
|
Pfam:Collagen
|
1544 |
1606 |
2.4e-9 |
PFAM |
|
COLFI
|
1644 |
1845 |
1.28e-40 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148751
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
99% (91/92) |
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,708 (GRCm39) |
L110P |
probably damaging |
Het |
| 4930522L14Rik |
A |
T |
5: 109,884,785 (GRCm39) |
C358S |
probably damaging |
Het |
| Abca8b |
C |
A |
11: 109,870,841 (GRCm39) |
V104F |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,905,551 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
C |
1: 179,611,726 (GRCm39) |
I548R |
probably damaging |
Het |
| Alox12b |
G |
T |
11: 69,060,382 (GRCm39) |
G646V |
probably damaging |
Het |
| Aoah |
C |
T |
13: 21,095,368 (GRCm39) |
|
probably benign |
Het |
| Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,325 (GRCm39) |
W646R |
probably damaging |
Het |
| Cabp2 |
T |
C |
19: 4,134,903 (GRCm39) |
I28T |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,577,716 (GRCm39) |
T719I |
probably damaging |
Het |
| Camk1d |
A |
T |
2: 5,449,946 (GRCm39) |
H70Q |
probably damaging |
Het |
| Car1 |
T |
C |
3: 14,835,236 (GRCm39) |
T170A |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,417,856 (GRCm39) |
T2113A |
probably benign |
Het |
| Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
| Cdh17 |
T |
A |
4: 11,771,273 (GRCm39) |
C18* |
probably null |
Het |
| Cdk17 |
A |
T |
10: 93,073,652 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,721,078 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
A |
2: 112,310,000 (GRCm39) |
K372M |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,738,487 (GRCm39) |
T423A |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,999,550 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
G |
9: 111,314,003 (GRCm39) |
D693G |
probably damaging |
Het |
| Dcun1d3 |
T |
A |
7: 119,457,173 (GRCm39) |
K180* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,324,235 (GRCm39) |
R876G |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,843,296 (GRCm39) |
Y432* |
probably null |
Het |
| Elapor2 |
G |
T |
5: 9,490,966 (GRCm39) |
G659* |
probably null |
Het |
| Eml2 |
C |
T |
7: 18,913,456 (GRCm39) |
Q125* |
probably null |
Het |
| Faap100 |
A |
C |
11: 120,264,702 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,471 (GRCm39) |
Y129H |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,481,350 (GRCm39) |
R207C |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,909,201 (GRCm39) |
I496M |
probably damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Gm10322 |
A |
T |
10: 59,452,030 (GRCm39) |
H49L |
possibly damaging |
Het |
| Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,607,141 (GRCm39) |
C85Y |
probably benign |
Het |
| Grhl1 |
C |
T |
12: 24,632,918 (GRCm39) |
P153L |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,353,054 (GRCm39) |
I414V |
probably damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,612,408 (GRCm39) |
Y266N |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,097,913 (GRCm39) |
P10L |
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,147,079 (GRCm39) |
E631G |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,038,366 (GRCm39) |
N973K |
possibly damaging |
Het |
| Man2c1 |
T |
A |
9: 57,042,881 (GRCm39) |
H250Q |
probably damaging |
Het |
| Mup3 |
T |
C |
4: 62,003,519 (GRCm39) |
T117A |
probably benign |
Het |
| Myo6 |
A |
C |
9: 80,181,256 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,983,951 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,829,770 (GRCm39) |
N157K |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,222,377 (GRCm39) |
T262I |
probably damaging |
Het |
| Or5an1 |
T |
A |
19: 12,261,267 (GRCm39) |
M285K |
probably damaging |
Het |
| Or5m12 |
T |
A |
2: 85,734,501 (GRCm39) |
N299I |
probably damaging |
Het |
| Or5w14 |
G |
A |
2: 87,541,774 (GRCm39) |
H159Y |
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,304 (GRCm39) |
T239A |
probably damaging |
Het |
| P4ha1 |
T |
A |
10: 59,184,079 (GRCm39) |
Y180* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,588 (GRCm39) |
F794L |
probably benign |
Het |
| Pdxdc1 |
T |
A |
16: 13,672,264 (GRCm39) |
I379F |
probably damaging |
Het |
| Psme3 |
T |
A |
11: 101,211,268 (GRCm39) |
S185T |
possibly damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,978,045 (GRCm39) |
S116P |
probably damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,218,078 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
C |
1: 160,549,775 (GRCm39) |
I277R |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,569,828 (GRCm39) |
T93I |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,676,730 (GRCm39) |
D226V |
probably damaging |
Het |
| Rnf144a |
A |
T |
12: 26,389,328 (GRCm39) |
C38S |
probably damaging |
Het |
| Rptor |
C |
T |
11: 119,671,379 (GRCm39) |
Q281* |
probably null |
Het |
| Rragd |
T |
C |
4: 33,004,332 (GRCm39) |
L208S |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,686,120 (GRCm39) |
E41G |
probably damaging |
Het |
| Slc16a1 |
G |
T |
3: 104,560,735 (GRCm39) |
V347F |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,731,732 (GRCm39) |
T39I |
probably damaging |
Het |
| Sra1 |
T |
C |
18: 36,810,556 (GRCm39) |
N98S |
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,132,184 (GRCm39) |
L215P |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,995,838 (GRCm39) |
H2126L |
probably damaging |
Het |
| Tep1 |
TTTCTTCTTCTT |
TTTCTTCTT |
14: 51,104,280 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
T |
C |
17: 65,563,498 (GRCm39) |
M632V |
probably damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnnt3 |
T |
G |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
| Tpsab1 |
A |
G |
17: 25,562,798 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,351,505 (GRCm39) |
V1431D |
probably damaging |
Het |
| Wdr49 |
G |
T |
3: 75,357,329 (GRCm39) |
R285S |
possibly damaging |
Het |
| Wdr7 |
A |
G |
18: 63,929,320 (GRCm39) |
Y1052C |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,380,578 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,654,565 (GRCm39) |
V323I |
possibly damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
| Zfp874b |
A |
G |
13: 67,629,955 (GRCm39) |
S10P |
probably damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,848,134 (GRCm39) |
Y110C |
probably benign |
Het |
|
| Other mutations in Col27a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Col27a1
|
APN |
4 |
63,218,978 (GRCm39) |
splice site |
probably benign |
|
|
IGL01461:Col27a1
|
APN |
4 |
63,142,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:Col27a1
|
APN |
4 |
63,144,019 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01738:Col27a1
|
APN |
4 |
63,182,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL01810:Col27a1
|
APN |
4 |
63,143,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02127:Col27a1
|
APN |
4 |
63,143,379 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02290:Col27a1
|
APN |
4 |
63,144,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Col27a1
|
APN |
4 |
63,211,486 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02548:Col27a1
|
APN |
4 |
63,236,492 (GRCm39) |
splice site |
probably benign |
|
|
IGL02792:Col27a1
|
APN |
4 |
63,233,820 (GRCm39) |
missense |
unknown |
|
|
IGL02931:Col27a1
|
APN |
4 |
63,249,663 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03107:Col27a1
|
APN |
4 |
63,242,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL03121:Col27a1
|
APN |
4 |
63,143,446 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03334:Col27a1
|
APN |
4 |
63,232,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Col27a1
|
UTSW |
4 |
63,143,637 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Col27a1
|
UTSW |
4 |
63,194,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Col27a1
|
UTSW |
4 |
63,183,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0196:Col27a1
|
UTSW |
4 |
63,142,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0359:Col27a1
|
UTSW |
4 |
63,232,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0375:Col27a1
|
UTSW |
4 |
63,143,898 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0499:Col27a1
|
UTSW |
4 |
63,218,978 (GRCm39) |
splice site |
probably benign |
|
|
R0786:Col27a1
|
UTSW |
4 |
63,209,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0891:Col27a1
|
UTSW |
4 |
63,223,420 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1239:Col27a1
|
UTSW |
4 |
63,237,152 (GRCm39) |
splice site |
probably benign |
|
|
R1297:Col27a1
|
UTSW |
4 |
63,183,868 (GRCm39) |
splice site |
probably benign |
|
|
R1299:Col27a1
|
UTSW |
4 |
63,183,868 (GRCm39) |
splice site |
probably benign |
|
|
R1322:Col27a1
|
UTSW |
4 |
63,246,803 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1342:Col27a1
|
UTSW |
4 |
63,175,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1446:Col27a1
|
UTSW |
4 |
63,143,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Col27a1
|
UTSW |
4 |
63,248,100 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1644:Col27a1
|
UTSW |
4 |
63,246,868 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1774:Col27a1
|
UTSW |
4 |
63,143,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Col27a1
|
UTSW |
4 |
63,249,586 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1952:Col27a1
|
UTSW |
4 |
63,202,130 (GRCm39) |
splice site |
probably null |
|
|
R1957:Col27a1
|
UTSW |
4 |
63,196,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1970:Col27a1
|
UTSW |
4 |
63,191,354 (GRCm39) |
splice site |
probably benign |
|
|
R2164:Col27a1
|
UTSW |
4 |
63,143,661 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3774:Col27a1
|
UTSW |
4 |
63,232,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Col27a1
|
UTSW |
4 |
63,142,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Col27a1
|
UTSW |
4 |
63,143,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4611:Col27a1
|
UTSW |
4 |
63,211,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Col27a1
|
UTSW |
4 |
63,202,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4884:Col27a1
|
UTSW |
4 |
63,194,197 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5149:Col27a1
|
UTSW |
4 |
63,249,664 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5411:Col27a1
|
UTSW |
4 |
63,142,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Col27a1
|
UTSW |
4 |
63,143,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Col27a1
|
UTSW |
4 |
63,199,351 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5657:Col27a1
|
UTSW |
4 |
63,143,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5838:Col27a1
|
UTSW |
4 |
63,143,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Col27a1
|
UTSW |
4 |
63,142,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Col27a1
|
UTSW |
4 |
63,242,678 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6457:Col27a1
|
UTSW |
4 |
63,237,701 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6624:Col27a1
|
UTSW |
4 |
63,143,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6792:Col27a1
|
UTSW |
4 |
63,235,740 (GRCm39) |
missense |
unknown |
|
|
R6848:Col27a1
|
UTSW |
4 |
63,220,608 (GRCm39) |
missense |
probably benign |
|
|
R6962:Col27a1
|
UTSW |
4 |
63,237,738 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7053:Col27a1
|
UTSW |
4 |
63,251,404 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7206:Col27a1
|
UTSW |
4 |
63,153,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7586:Col27a1
|
UTSW |
4 |
63,143,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Col27a1
|
UTSW |
4 |
63,143,955 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7714:Col27a1
|
UTSW |
4 |
63,242,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7916:Col27a1
|
UTSW |
4 |
63,142,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Col27a1
|
UTSW |
4 |
63,236,520 (GRCm39) |
missense |
unknown |
|
|
R7988:Col27a1
|
UTSW |
4 |
63,249,559 (GRCm39) |
missense |
unknown |
|
|
R8136:Col27a1
|
UTSW |
4 |
63,202,190 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8243:Col27a1
|
UTSW |
4 |
63,144,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Col27a1
|
UTSW |
4 |
63,144,040 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8350:Col27a1
|
UTSW |
4 |
63,248,134 (GRCm39) |
missense |
unknown |
|
|
R8437:Col27a1
|
UTSW |
4 |
63,237,701 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8450:Col27a1
|
UTSW |
4 |
63,248,134 (GRCm39) |
missense |
unknown |
|
|
R8542:Col27a1
|
UTSW |
4 |
63,239,662 (GRCm39) |
splice site |
probably null |
|
|
R8745:Col27a1
|
UTSW |
4 |
63,144,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8821:Col27a1
|
UTSW |
4 |
63,143,148 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8951:Col27a1
|
UTSW |
4 |
63,191,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8970:Col27a1
|
UTSW |
4 |
63,134,105 (GRCm39) |
missense |
unknown |
|
|
R9115:Col27a1
|
UTSW |
4 |
63,231,974 (GRCm39) |
missense |
unknown |
|
|
R9185:Col27a1
|
UTSW |
4 |
63,246,887 (GRCm39) |
missense |
unknown |
|
|
R9291:Col27a1
|
UTSW |
4 |
63,142,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9404:Col27a1
|
UTSW |
4 |
63,194,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Col27a1
|
UTSW |
4 |
63,144,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Col27a1
|
UTSW |
4 |
63,199,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTTCACTAACCCCACTGTTGC -3'
(R):5'- GTGTTCTCTCGAACCAAACTGTCCC -3'
Sequencing Primer
(F):5'- GTTGCAAAATCTAAGTCCAAGACG -3'
(R):5'- AAGCCACAGTCTCCCTTGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation