Incidental Mutation 'R2290:Col24a1'
| ID |
244247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col24a1
|
| Ensembl Gene |
ENSMUSG00000028197 |
| Gene Name |
collagen, type XXIV, alpha 1 |
| Synonyms |
5430404K19Rik |
| MMRRC Submission |
040289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144998233-145257766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 145218950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 1457
(G1457E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029848]
|
| AlphaFold |
Q30D77 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029848
AA Change: G1457E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: G1457E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
TSPN
|
41 |
230 |
2.7e-3 |
SMART |
|
LamG
|
106 |
229 |
8.07e-2 |
SMART |
|
Pfam:Collagen
|
506 |
565 |
9.6e-10 |
PFAM |
|
Pfam:Collagen
|
561 |
623 |
3.4e-10 |
PFAM |
|
Pfam:Collagen
|
604 |
678 |
2.3e-9 |
PFAM |
|
low complexity region
|
682 |
724 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
772 |
837 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
865 |
938 |
6e-9 |
PFAM |
|
Pfam:Collagen
|
967 |
1042 |
3.1e-8 |
PFAM |
|
low complexity region
|
1056 |
1075 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1107 |
1180 |
8e-9 |
PFAM |
|
Pfam:Collagen
|
1159 |
1218 |
4.2e-10 |
PFAM |
|
Pfam:Collagen
|
1218 |
1279 |
1.8e-10 |
PFAM |
|
Pfam:Collagen
|
1270 |
1334 |
3.1e-9 |
PFAM |
|
Pfam:Collagen
|
1378 |
1443 |
1.3e-9 |
PFAM |
|
Pfam:Collagen
|
1439 |
1500 |
1.8e-9 |
PFAM |
|
COLFI
|
1533 |
1733 |
9.34e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127379
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (73/73) |
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of type XXIV collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein has structural features of invertebrate fibrillar collagens and is expressed predominantly in bone tissue. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
| Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
| Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
| Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
| Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
| Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
| Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
| Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
| Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
| Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
| Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
| Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
| Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
| Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
| Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
| Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
possibly damaging |
Het |
|
| Other mutations in Col24a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Col24a1
|
APN |
3 |
145,068,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00931:Col24a1
|
APN |
3 |
145,167,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01160:Col24a1
|
APN |
3 |
145,213,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01355:Col24a1
|
APN |
3 |
145,020,637 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01409:Col24a1
|
APN |
3 |
145,244,319 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01587:Col24a1
|
APN |
3 |
145,139,110 (GRCm39) |
splice site |
probably null |
|
|
IGL01666:Col24a1
|
APN |
3 |
145,050,447 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01717:Col24a1
|
APN |
3 |
145,230,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL01721:Col24a1
|
APN |
3 |
145,244,322 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01939:Col24a1
|
APN |
3 |
145,021,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01988:Col24a1
|
APN |
3 |
145,229,922 (GRCm39) |
splice site |
probably null |
|
|
IGL02002:Col24a1
|
APN |
3 |
145,062,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02172:Col24a1
|
APN |
3 |
145,020,723 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02552:Col24a1
|
APN |
3 |
145,179,962 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02559:Col24a1
|
APN |
3 |
145,019,934 (GRCm39) |
missense |
probably benign |
|
|
IGL02582:Col24a1
|
APN |
3 |
145,020,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Col24a1
|
APN |
3 |
145,198,056 (GRCm39) |
nonsense |
probably null |
|
|
IGL02942:Col24a1
|
APN |
3 |
145,247,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03032:Col24a1
|
APN |
3 |
145,244,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03108:Col24a1
|
APN |
3 |
145,029,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03310:Col24a1
|
APN |
3 |
145,019,744 (GRCm39) |
splice site |
probably benign |
|
|
IGL03405:Col24a1
|
APN |
3 |
145,020,918 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0066:Col24a1
|
UTSW |
3 |
145,250,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Col24a1
|
UTSW |
3 |
145,250,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Col24a1
|
UTSW |
3 |
145,229,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0502:Col24a1
|
UTSW |
3 |
145,251,071 (GRCm39) |
splice site |
probably benign |
|
|
R0556:Col24a1
|
UTSW |
3 |
145,020,489 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0587:Col24a1
|
UTSW |
3 |
144,998,906 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0617:Col24a1
|
UTSW |
3 |
145,019,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Col24a1
|
UTSW |
3 |
145,034,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1455:Col24a1
|
UTSW |
3 |
145,166,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Col24a1
|
UTSW |
3 |
145,095,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1713:Col24a1
|
UTSW |
3 |
145,072,624 (GRCm39) |
nonsense |
probably null |
|
|
R1854:Col24a1
|
UTSW |
3 |
145,164,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Col24a1
|
UTSW |
3 |
145,164,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Col24a1
|
UTSW |
3 |
145,243,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1969:Col24a1
|
UTSW |
3 |
145,020,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2216:Col24a1
|
UTSW |
3 |
145,020,742 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3702:Col24a1
|
UTSW |
3 |
145,043,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3772:Col24a1
|
UTSW |
3 |
145,251,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Col24a1
|
UTSW |
3 |
145,167,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Col24a1
|
UTSW |
3 |
145,230,037 (GRCm39) |
nonsense |
probably null |
|
|
R4433:Col24a1
|
UTSW |
3 |
145,020,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4688:Col24a1
|
UTSW |
3 |
145,020,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4972:Col24a1
|
UTSW |
3 |
145,215,439 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5157:Col24a1
|
UTSW |
3 |
145,051,712 (GRCm39) |
nonsense |
probably null |
|
|
R5216:Col24a1
|
UTSW |
3 |
145,021,071 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5274:Col24a1
|
UTSW |
3 |
145,190,433 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5334:Col24a1
|
UTSW |
3 |
145,167,280 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5416:Col24a1
|
UTSW |
3 |
145,020,786 (GRCm39) |
nonsense |
probably null |
|
|
R5473:Col24a1
|
UTSW |
3 |
145,243,016 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5538:Col24a1
|
UTSW |
3 |
144,998,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5561:Col24a1
|
UTSW |
3 |
145,004,588 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5648:Col24a1
|
UTSW |
3 |
145,064,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5920:Col24a1
|
UTSW |
3 |
145,133,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Col24a1
|
UTSW |
3 |
145,019,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6151:Col24a1
|
UTSW |
3 |
145,019,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6701:Col24a1
|
UTSW |
3 |
145,020,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6728:Col24a1
|
UTSW |
3 |
145,020,957 (GRCm39) |
missense |
probably benign |
|
|
R6734:Col24a1
|
UTSW |
3 |
145,214,429 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6861:Col24a1
|
UTSW |
3 |
145,166,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Col24a1
|
UTSW |
3 |
145,020,807 (GRCm39) |
nonsense |
probably null |
|
|
R7001:Col24a1
|
UTSW |
3 |
145,004,627 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7148:Col24a1
|
UTSW |
3 |
145,021,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Col24a1
|
UTSW |
3 |
145,192,059 (GRCm39) |
nonsense |
probably null |
|
|
R7315:Col24a1
|
UTSW |
3 |
145,137,625 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7358:Col24a1
|
UTSW |
3 |
144,998,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7371:Col24a1
|
UTSW |
3 |
145,049,459 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7383:Col24a1
|
UTSW |
3 |
145,004,599 (GRCm39) |
missense |
probably benign |
|
|
R7605:Col24a1
|
UTSW |
3 |
145,244,442 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7650:Col24a1
|
UTSW |
3 |
145,020,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7679:Col24a1
|
UTSW |
3 |
145,105,110 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7701:Col24a1
|
UTSW |
3 |
145,072,656 (GRCm39) |
splice site |
probably null |
|
|
R7701:Col24a1
|
UTSW |
3 |
145,020,772 (GRCm39) |
missense |
probably benign |
|
|
R7805:Col24a1
|
UTSW |
3 |
145,019,901 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7913:Col24a1
|
UTSW |
3 |
145,137,621 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Col24a1
|
UTSW |
3 |
145,179,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Col24a1
|
UTSW |
3 |
145,019,925 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8240:Col24a1
|
UTSW |
3 |
145,213,457 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8294:Col24a1
|
UTSW |
3 |
145,186,844 (GRCm39) |
missense |
probably null |
1.00 |
|
R8305:Col24a1
|
UTSW |
3 |
145,179,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8430:Col24a1
|
UTSW |
3 |
145,021,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Col24a1
|
UTSW |
3 |
145,251,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8880:Col24a1
|
UTSW |
3 |
145,019,798 (GRCm39) |
missense |
probably null |
|
|
R9056:Col24a1
|
UTSW |
3 |
145,021,009 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9461:Col24a1
|
UTSW |
3 |
145,186,879 (GRCm39) |
nonsense |
probably null |
|
|
R9612:Col24a1
|
UTSW |
3 |
145,250,960 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9777:Col24a1
|
UTSW |
3 |
145,021,103 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Col24a1
|
UTSW |
3 |
145,048,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Col24a1
|
UTSW |
3 |
145,048,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGCACATGTTTTCTTGGG -3'
(R):5'- TCTATGACCCTGAAGAGTGGC -3'
Sequencing Primer
(F):5'- CAGAATCTAGGTGATCGATCTCCTG -3'
(R):5'- GCCCCCAGAAGGAAATATGAATTTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation