Incidental Mutation 'R5472:Col16a1'
| ID |
433859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col16a1
|
| Ensembl Gene |
ENSMUSG00000040690 |
| Gene Name |
collagen, type XVI, alpha 1 |
| Synonyms |
2700007F12Rik, [a]1 (XVI) collagen, A530052M23Rik |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
130047840-130099283 bp(+) (GRCm38) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 130092771 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044565]
[ENSMUST00000143432]
[ENSMUST00000143577]
|
| AlphaFold |
Q8BLX7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044565
AA Change: L1283P
|
| SMART Domains |
Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: L1283P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TSPN
|
50 |
231 |
1.07e-68 |
SMART |
|
internal_repeat_4
|
330 |
355 |
2.35e-7 |
PROSPERO |
|
Pfam:Collagen
|
372 |
431 |
1.6e-8 |
PFAM |
|
low complexity region
|
441 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
542 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
546 |
562 |
2.68e-9 |
PROSPERO |
|
internal_repeat_1
|
547 |
580 |
9.92e-10 |
PROSPERO |
|
Pfam:Collagen
|
584 |
646 |
1.5e-9 |
PFAM |
|
internal_repeat_5
|
662 |
689 |
6.35e-7 |
PROSPERO |
|
internal_repeat_3
|
662 |
731 |
1.96e-8 |
PROSPERO |
|
internal_repeat_7
|
679 |
695 |
2.06e-5 |
PROSPERO |
|
internal_repeat_6
|
682 |
730 |
7.63e-6 |
PROSPERO |
|
internal_repeat_1
|
685 |
742 |
9.92e-10 |
PROSPERO |
|
Pfam:Collagen
|
796 |
850 |
3.4e-9 |
PFAM |
|
internal_repeat_5
|
859 |
889 |
6.35e-7 |
PROSPERO |
|
low complexity region
|
891 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1000 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1001 |
1064 |
1.4e-10 |
PFAM |
|
low complexity region
|
1090 |
1112 |
N/A |
INTRINSIC |
|
internal_repeat_7
|
1114 |
1130 |
2.06e-5 |
PROSPERO |
|
low complexity region
|
1132 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1171 |
1222 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1282 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1283 |
1299 |
2.68e-9 |
PROSPERO |
|
internal_repeat_6
|
1287 |
1335 |
7.63e-6 |
PROSPERO |
|
Pfam:Collagen
|
1350 |
1411 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
1446 |
1503 |
5.3e-10 |
PFAM |
|
low complexity region
|
1505 |
1525 |
N/A |
INTRINSIC |
|
low complexity region
|
1528 |
1549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143432
|
| SMART Domains |
Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TSPN
|
50 |
231 |
1.07e-68 |
SMART |
|
internal_repeat_1
|
330 |
353 |
5.41e-8 |
PROSPERO |
|
Pfam:Collagen
|
372 |
426 |
2.1e-9 |
PFAM |
|
low complexity region
|
441 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
542 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
546 |
569 |
5.41e-8 |
PROSPERO |
|
internal_repeat_2
|
547 |
580 |
5.41e-8 |
PROSPERO |
|
Pfam:Collagen
|
584 |
646 |
2.7e-10 |
PFAM |
|
Pfam:Collagen
|
659 |
736 |
8.6e-8 |
PFAM |
|
Pfam:Collagen
|
745 |
797 |
1.6e-7 |
PFAM |
|
Pfam:Collagen
|
796 |
850 |
5.9e-10 |
PFAM |
|
Pfam:Collagen
|
848 |
923 |
1.6e-7 |
PFAM |
|
low complexity region
|
974 |
984 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
987 |
1045 |
1e-11 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143577
AA Change: L986P
|
| SMART Domains |
Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: L986P
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_7
|
1 |
43 |
5.7e-5 |
PROSPERO |
|
Pfam:Collagen
|
57 |
112 |
2e-9 |
PFAM |
|
low complexity region
|
126 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
227 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
231 |
247 |
1.5e-10 |
PROSPERO |
|
internal_repeat_1
|
232 |
265 |
5.16e-11 |
PROSPERO |
|
Pfam:Collagen
|
269 |
331 |
3.4e-10 |
PFAM |
|
Pfam:Collagen
|
360 |
421 |
7e-11 |
PFAM |
|
Pfam:Collagen
|
430 |
482 |
1.9e-7 |
PFAM |
|
Pfam:Collagen
|
481 |
535 |
7.8e-10 |
PFAM |
|
Pfam:Collagen
|
560 |
623 |
1.4e-7 |
PFAM |
|
internal_repeat_9
|
640 |
665 |
9.73e-5 |
PROSPERO |
|
low complexity region
|
675 |
685 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
686 |
747 |
2.5e-11 |
PFAM |
|
Pfam:Collagen
|
730 |
802 |
5.2e-9 |
PFAM |
|
Pfam:Collagen
|
783 |
860 |
9.2e-9 |
PFAM |
|
low complexity region
|
871 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
930 |
985 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
986 |
1002 |
1.5e-10 |
PROSPERO |
|
internal_repeat_5
|
990 |
1038 |
7.88e-7 |
PROSPERO |
|
low complexity region
|
1041 |
1110 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1149 |
1205 |
1.8e-10 |
PFAM |
|
Pfam:Collagen
|
1203 |
1260 |
1.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| 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 XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). 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. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,513,429 (GRCm38) |
N506S |
probably benign |
Het |
| BC067074 |
A |
G |
13: 113,319,169 (GRCm38) |
D583G |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,901,459 (GRCm38) |
H548L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,638,446 (GRCm38) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,155,471 (GRCm38) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,098,048 (GRCm38) |
T76K |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,589,625 (GRCm38) |
A100S |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,469,677 (GRCm38) |
C305F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 40,953,579 (GRCm38) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,484,496 (GRCm38) |
I24L |
unknown |
Het |
| Gm765 |
A |
T |
6: 98,238,276 (GRCm38) |
C129S |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,628,287 (GRCm38) |
|
probably null |
Het |
| Gm996 |
T |
C |
2: 25,579,702 (GRCm38) |
T66A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 78,801,660 (GRCm38) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,567,272 (GRCm38) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,723,851 (GRCm38) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,026,786 (GRCm38) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 91,799,480 (GRCm38) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 137,084,995 (GRCm38) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,105,309 (GRCm38) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 52,977,816 (GRCm38) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,945,858 (GRCm38) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,450,061 (GRCm38) |
T2123A |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,559,786 (GRCm38) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 87,984,561 (GRCm38) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 145,146,866 (GRCm38) |
R457L |
probably benign |
Het |
| Olfr822 |
A |
T |
10: 130,075,029 (GRCm38) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,488,975 (GRCm38) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,240,112 (GRCm38) |
T267I |
probably damaging |
Het |
| Pramef20 |
T |
C |
4: 144,377,157 (GRCm38) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,503,643 (GRCm38) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,626,706 (GRCm38) |
|
probably null |
Het |
| Rasal3 |
C |
A |
17: 32,396,669 (GRCm38) |
L374F |
probably damaging |
Het |
| S1pr3 |
T |
A |
13: 51,419,647 (GRCm38) |
V288D |
probably damaging |
Het |
| Setd7 |
G |
A |
3: 51,521,465 (GRCm38) |
P315S |
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,991,540 (GRCm38) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,359,314 (GRCm38) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,224,313 (GRCm38) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 95,094,513 (GRCm38) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,428,044 (GRCm38) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,451,092 (GRCm38) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,015,762 (GRCm38) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,513,125 (GRCm38) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,777,241 (GRCm38) |
E14G |
probably benign |
Het |
| Vmn2r28 |
C |
T |
7: 5,487,944 (GRCm38) |
|
probably null |
Het |
| Vwde |
A |
T |
6: 13,193,118 (GRCm38) |
D407E |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,016,619 (GRCm38) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 24,228,621 (GRCm38) |
C462* |
probably null |
Het |
|
| Other mutations in Col16a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Col16a1
|
APN |
4 |
130,094,552 (GRCm38) |
splice site |
probably null |
|
|
IGL00885:Col16a1
|
APN |
4 |
130,096,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01931:Col16a1
|
APN |
4 |
130,072,841 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02142:Col16a1
|
APN |
4 |
130,051,647 (GRCm38) |
splice site |
probably null |
|
|
IGL02307:Col16a1
|
APN |
4 |
130,059,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02731:Col16a1
|
APN |
4 |
130,053,530 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02742:Col16a1
|
APN |
4 |
130,061,379 (GRCm38) |
unclassified |
probably benign |
|
|
PIT4520001:Col16a1
|
UTSW |
4 |
130,051,663 (GRCm38) |
missense |
unknown |
|
|
R0127:Col16a1
|
UTSW |
4 |
130,052,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0131:Col16a1
|
UTSW |
4 |
130,067,096 (GRCm38) |
missense |
unknown |
|
|
R0131:Col16a1
|
UTSW |
4 |
130,067,096 (GRCm38) |
missense |
unknown |
|
|
R0132:Col16a1
|
UTSW |
4 |
130,067,096 (GRCm38) |
missense |
unknown |
|
|
R0299:Col16a1
|
UTSW |
4 |
130,058,318 (GRCm38) |
frame shift |
probably null |
|
|
R0355:Col16a1
|
UTSW |
4 |
130,058,413 (GRCm38) |
splice site |
probably benign |
|
|
R0395:Col16a1
|
UTSW |
4 |
130,073,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0485:Col16a1
|
UTSW |
4 |
130,090,497 (GRCm38) |
splice site |
probably benign |
|
|
R0573:Col16a1
|
UTSW |
4 |
130,068,475 (GRCm38) |
splice site |
probably benign |
|
|
R1274:Col16a1
|
UTSW |
4 |
130,097,801 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1619:Col16a1
|
UTSW |
4 |
130,098,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1759:Col16a1
|
UTSW |
4 |
130,084,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1832:Col16a1
|
UTSW |
4 |
130,077,057 (GRCm38) |
splice site |
probably null |
|
|
R1861:Col16a1
|
UTSW |
4 |
130,061,724 (GRCm38) |
unclassified |
probably benign |
|
|
R1862:Col16a1
|
UTSW |
4 |
130,092,782 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1981:Col16a1
|
UTSW |
4 |
130,065,443 (GRCm38) |
missense |
unknown |
|
|
R2265:Col16a1
|
UTSW |
4 |
130,052,918 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2269:Col16a1
|
UTSW |
4 |
130,052,918 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2291:Col16a1
|
UTSW |
4 |
130,067,040 (GRCm38) |
missense |
unknown |
|
|
R3176:Col16a1
|
UTSW |
4 |
130,057,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3276:Col16a1
|
UTSW |
4 |
130,057,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3552:Col16a1
|
UTSW |
4 |
130,077,041 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4049:Col16a1
|
UTSW |
4 |
130,068,752 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4241:Col16a1
|
UTSW |
4 |
130,099,050 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4327:Col16a1
|
UTSW |
4 |
130,094,551 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4591:Col16a1
|
UTSW |
4 |
130,061,799 (GRCm38) |
splice site |
probably null |
|
|
R4664:Col16a1
|
UTSW |
4 |
130,062,090 (GRCm38) |
unclassified |
probably benign |
|
|
R4803:Col16a1
|
UTSW |
4 |
130,055,108 (GRCm38) |
unclassified |
probably benign |
|
|
R4925:Col16a1
|
UTSW |
4 |
130,054,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4961:Col16a1
|
UTSW |
4 |
130,054,479 (GRCm38) |
splice site |
probably null |
|
|
R5016:Col16a1
|
UTSW |
4 |
130,079,195 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5027:Col16a1
|
UTSW |
4 |
130,079,195 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5085:Col16a1
|
UTSW |
4 |
130,054,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5088:Col16a1
|
UTSW |
4 |
130,079,195 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5089:Col16a1
|
UTSW |
4 |
130,079,195 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5408:Col16a1
|
UTSW |
4 |
130,093,105 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5564:Col16a1
|
UTSW |
4 |
130,053,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5597:Col16a1
|
UTSW |
4 |
130,058,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5703:Col16a1
|
UTSW |
4 |
130,053,299 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6054:Col16a1
|
UTSW |
4 |
130,061,722 (GRCm38) |
unclassified |
probably benign |
|
|
R6226:Col16a1
|
UTSW |
4 |
130,055,089 (GRCm38) |
unclassified |
probably benign |
|
|
R6362:Col16a1
|
UTSW |
4 |
130,066,190 (GRCm38) |
missense |
unknown |
|
|
R6448:Col16a1
|
UTSW |
4 |
130,058,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6449:Col16a1
|
UTSW |
4 |
130,066,693 (GRCm38) |
missense |
unknown |
|
|
R6502:Col16a1
|
UTSW |
4 |
130,055,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6949:Col16a1
|
UTSW |
4 |
130,059,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6969:Col16a1
|
UTSW |
4 |
130,093,087 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7086:Col16a1
|
UTSW |
4 |
130,052,980 (GRCm38) |
splice site |
probably null |
|
|
R7375:Col16a1
|
UTSW |
4 |
130,065,501 (GRCm38) |
missense |
unknown |
|
|
R7703:Col16a1
|
UTSW |
4 |
130,096,502 (GRCm38) |
missense |
unknown |
|
|
R7808:Col16a1
|
UTSW |
4 |
130,073,264 (GRCm38) |
missense |
unknown |
|
|
R7904:Col16a1
|
UTSW |
4 |
130,054,208 (GRCm38) |
nonsense |
probably null |
|
|
R7936:Col16a1
|
UTSW |
4 |
130,096,871 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7981:Col16a1
|
UTSW |
4 |
130,086,554 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8161:Col16a1
|
UTSW |
4 |
130,060,469 (GRCm38) |
missense |
unknown |
|
|
R8178:Col16a1
|
UTSW |
4 |
130,053,477 (GRCm38) |
missense |
unknown |
|
|
R8266:Col16a1
|
UTSW |
4 |
130,065,431 (GRCm38) |
missense |
unknown |
|
|
R8312:Col16a1
|
UTSW |
4 |
130,054,451 (GRCm38) |
missense |
unknown |
|
|
R8714:Col16a1
|
UTSW |
4 |
130,054,168 (GRCm38) |
missense |
unknown |
|
|
R9011:Col16a1
|
UTSW |
4 |
130,052,859 (GRCm38) |
missense |
unknown |
|
|
R9088:Col16a1
|
UTSW |
4 |
130,077,223 (GRCm38) |
missense |
unknown |
|
|
RF014:Col16a1
|
UTSW |
4 |
130,093,067 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
Z1176:Col16a1
|
UTSW |
4 |
130,072,878 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCTGGTAGAAGTTCAAGTG -3'
(R):5'- AACAGATGGCATGCCTGTG -3'
Sequencing Primer
(F):5'- CCTGGTAGAAGTTCAAGTGTAAGATC -3'
(R):5'- GCATGCCTGTGCCTGTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation