Incidental Mutation 'R2132:Col4a4'
| ID |
233336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a4
|
| Ensembl Gene |
ENSMUSG00000067158 |
| Gene Name |
collagen, type IV, alpha 4 |
| Synonyms |
E130010M05Rik, [a]4(IV) |
| MMRRC Submission |
040135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82448423-82586849 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82497860 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 583
(R583C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087050]
|
| AlphaFold |
Q9QZR9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000087050
AA Change: R583C
|
| SMART Domains |
Protein: ENSMUSP00000084282
Gene: ENSMUSG00000067158
AA Change: R583C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
54 |
113 |
4e-11 |
PFAM |
|
Pfam:Collagen
|
110 |
168 |
4.1e-10 |
PFAM |
|
Pfam:Collagen
|
172 |
229 |
2.8e-10 |
PFAM |
|
low complexity region
|
265 |
288 |
N/A |
INTRINSIC |
|
internal_repeat_7
|
289 |
345 |
1.46e-9 |
PROSPERO |
|
internal_repeat_6
|
291 |
348 |
5.03e-10 |
PROSPERO |
|
internal_repeat_9
|
297 |
353 |
7.22e-9 |
PROSPERO |
|
internal_repeat_4
|
322 |
354 |
2.06e-11 |
PROSPERO |
|
internal_repeat_11
|
334 |
349 |
1.25e-5 |
PROSPERO |
|
Pfam:Collagen
|
392 |
449 |
1.3e-8 |
PFAM |
|
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
486 |
553 |
1e-10 |
PFAM |
|
low complexity region
|
563 |
595 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
597 |
658 |
1e-8 |
PFAM |
|
Pfam:Collagen
|
663 |
731 |
4.4e-10 |
PFAM |
|
Pfam:Collagen
|
755 |
810 |
3.3e-9 |
PFAM |
|
internal_repeat_2
|
816 |
841 |
2.9e-13 |
PROSPERO |
|
Pfam:Collagen
|
844 |
912 |
1.8e-10 |
PFAM |
|
Pfam:Collagen
|
898 |
962 |
2.7e-10 |
PFAM |
|
low complexity region
|
963 |
1003 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1006 |
1071 |
2e-10 |
PFAM |
|
Pfam:Collagen
|
1073 |
1132 |
5.8e-12 |
PFAM |
|
Pfam:Collagen
|
1124 |
1185 |
1.8e-10 |
PFAM |
|
Pfam:Collagen
|
1187 |
1245 |
2.3e-8 |
PFAM |
|
low complexity region
|
1277 |
1361 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1384 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1395 |
1454 |
4.3e-8 |
PFAM |
|
C4
|
1457 |
1564 |
3.36e-58 |
SMART |
|
C4
|
1565 |
1681 |
1.49e-59 |
SMART |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
94% (117/124) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 87,964,476 (GRCm38) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
C |
16: 4,835,971 (GRCm38) |
Q128P |
unknown |
Het |
| 9030624J02Rik |
T |
C |
7: 118,794,575 (GRCm38) |
Y516H |
probably damaging |
Het |
| 9130019O22Rik |
T |
C |
7: 127,386,935 (GRCm38) |
D8G |
probably benign |
Het |
| 9530053A07Rik |
C |
T |
7: 28,155,474 (GRCm38) |
P1842S |
probably damaging |
Het |
| Abcc3 |
T |
A |
11: 94,367,600 (GRCm38) |
K473M |
probably benign |
Het |
| Acacb |
TGGGG |
TGGG |
5: 114,209,767 (GRCm38) |
|
probably null |
Het |
| Adgrg7 |
C |
A |
16: 56,767,918 (GRCm38) |
A199S |
probably damaging |
Het |
| Akap13 |
G |
T |
7: 75,611,434 (GRCm38) |
A1269S |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,169,843 (GRCm38) |
H845R |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,324,761 (GRCm38) |
|
probably benign |
Het |
| Atat1 |
A |
G |
17: 35,909,439 (GRCm38) |
S54P |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 141,005,016 (GRCm38) |
M864K |
probably damaging |
Het |
| B3gnt3 |
G |
A |
8: 71,693,327 (GRCm38) |
T186M |
probably damaging |
Het |
| Cars |
C |
A |
7: 143,592,474 (GRCm38) |
R71M |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,150,004 (GRCm38) |
V116E |
probably damaging |
Het |
| Ccdc85a |
G |
A |
11: 28,434,151 (GRCm38) |
T408I |
probably benign |
Het |
| Celf1 |
G |
T |
2: 91,010,446 (GRCm38) |
G353W |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 86,031,967 (GRCm38) |
I602F |
possibly damaging |
Het |
| Cenpb |
C |
T |
2: 131,179,306 (GRCm38) |
V191M |
probably damaging |
Het |
| Cenpn |
G |
A |
8: 116,934,797 (GRCm38) |
|
probably null |
Het |
| Cfap65 |
A |
C |
1: 74,907,691 (GRCm38) |
C1287G |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,069,383 (GRCm38) |
T3326I |
probably damaging |
Het |
| Cnn3 |
A |
T |
3: 121,451,935 (GRCm38) |
E100V |
probably damaging |
Het |
| Commd7 |
A |
C |
2: 153,621,666 (GRCm38) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,457,503 (GRCm38) |
T304A |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,491,391 (GRCm38) |
S325R |
probably damaging |
Het |
| D730048I06Rik |
T |
G |
9: 35,789,743 (GRCm38) |
|
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,920,046 (GRCm38) |
N42S |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,688,709 (GRCm38) |
Q134L |
probably damaging |
Het |
| Dnaaf3 |
T |
A |
7: 4,523,801 (GRCm38) |
I426L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,033,747 (GRCm38) |
L3999F |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,846,518 (GRCm38) |
S97P |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,340,797 (GRCm38) |
S976T |
probably damaging |
Het |
| Dstyk |
T |
A |
1: 132,449,484 (GRCm38) |
M29K |
probably null |
Het |
| Eif3i |
A |
T |
4: 129,596,926 (GRCm38) |
H18Q |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,343,682 (GRCm38) |
E71G |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 72,386,868 (GRCm38) |
V260D |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,710,845 (GRCm38) |
N34S |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,246,719 (GRCm38) |
|
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,859,857 (GRCm38) |
I422N |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,327,899 (GRCm38) |
G431W |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,873,376 (GRCm38) |
D224A |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,443,676 (GRCm38) |
V566M |
probably damaging |
Het |
| Gatsl2 |
G |
A |
5: 134,136,153 (GRCm38) |
C187Y |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,725,549 (GRCm38) |
S1174T |
possibly damaging |
Het |
| Glmn |
A |
T |
5: 107,578,455 (GRCm38) |
V93E |
probably damaging |
Het |
| Glrx2 |
T |
C |
1: 143,745,104 (GRCm38) |
S74P |
possibly damaging |
Het |
| Gm13212 |
T |
A |
4: 145,624,233 (GRCm38) |
|
probably benign |
Het |
| Gm5422 |
G |
A |
10: 31,248,933 (GRCm38) |
|
noncoding transcript |
Het |
| Gpi1 |
T |
C |
7: 34,205,914 (GRCm38) |
K362E |
probably damaging |
Het |
| Gtpbp2 |
T |
C |
17: 46,161,202 (GRCm38) |
M21T |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,244,970 (GRCm38) |
*405R |
probably null |
Het |
| Heyl |
T |
C |
4: 123,246,083 (GRCm38) |
V145A |
probably damaging |
Het |
| Hhipl1 |
A |
C |
12: 108,311,690 (GRCm38) |
E92D |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,729,771 (GRCm38) |
F467S |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,722,208 (GRCm38) |
I462N |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,785,168 (GRCm38) |
|
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,529,397 (GRCm38) |
I201T |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 52,893,933 (GRCm38) |
V465A |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 25,851,900 (GRCm38) |
I91N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,758,805 (GRCm38) |
|
probably benign |
Het |
| Klrc3 |
T |
A |
6: 129,641,538 (GRCm38) |
Y94F |
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,393,287 (GRCm38) |
T489S |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,981,062 (GRCm38) |
Y147H |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,174,988 (GRCm38) |
T842I |
possibly damaging |
Het |
| Magel2 |
A |
T |
7: 62,377,738 (GRCm38) |
H130L |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,697,274 (GRCm38) |
E951G |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,169,102 (GRCm38) |
Q86R |
probably damaging |
Het |
| Med12l |
G |
T |
3: 59,265,282 (GRCm38) |
|
probably null |
Het |
| Morc2a |
A |
G |
11: 3,679,787 (GRCm38) |
E402G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,678,704 (GRCm38) |
C486R |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,797,361 (GRCm38) |
D282G |
possibly damaging |
Het |
| Mtcl1 |
G |
T |
17: 66,343,623 (GRCm38) |
H1616N |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,807,289 (GRCm38) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,292,876 (GRCm38) |
E777G |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,509,486 (GRCm38) |
H1186R |
probably benign |
Het |
| Nppb |
T |
A |
4: 147,985,997 (GRCm38) |
S8T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 128,498,516 (GRCm38) |
E782D |
probably damaging |
Het |
| Ntrk3 |
G |
A |
7: 78,477,935 (GRCm38) |
|
probably benign |
Het |
| Olfr1039 |
A |
G |
2: 86,131,261 (GRCm38) |
V134A |
possibly damaging |
Het |
| Olfr1451 |
T |
A |
19: 12,999,038 (GRCm38) |
D17E |
probably benign |
Het |
| Olfr308 |
C |
T |
7: 86,321,479 (GRCm38) |
V158M |
possibly damaging |
Het |
| Olfr341 |
A |
G |
2: 36,480,047 (GRCm38) |
S28P |
possibly damaging |
Het |
| Olfr356 |
A |
G |
2: 36,937,692 (GRCm38) |
N191S |
probably benign |
Het |
| Olfr453 |
C |
A |
6: 42,744,135 (GRCm38) |
L33M |
possibly damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,586,214 (GRCm38) |
I546K |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,117,308 (GRCm38) |
V212A |
probably damaging |
Het |
| Pdlim4 |
A |
G |
11: 54,063,737 (GRCm38) |
L48S |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 178,283,966 (GRCm38) |
F345L |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,325,667 (GRCm38) |
Y460* |
probably null |
Het |
| Prcp |
T |
A |
7: 92,901,280 (GRCm38) |
V95D |
probably benign |
Het |
| Rfwd3 |
A |
T |
8: 111,297,402 (GRCm38) |
V96E |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,410,025 (GRCm38) |
N308D |
probably benign |
Het |
| Sdccag8 |
C |
A |
1: 176,955,889 (GRCm38) |
Q655K |
probably damaging |
Het |
| Senp1 |
T |
A |
15: 98,075,967 (GRCm38) |
T132S |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,464,733 (GRCm38) |
I10T |
possibly damaging |
Het |
| Slc9a4 |
T |
G |
1: 40,607,741 (GRCm38) |
|
probably null |
Het |
| Smad2 |
T |
A |
18: 76,288,084 (GRCm38) |
C161* |
probably null |
Het |
| Spata31d1a |
G |
T |
13: 59,701,043 (GRCm38) |
D1090E |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 151,045,168 (GRCm38) |
Y879C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,624,833 (GRCm38) |
T1775A |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,208,645 (GRCm38) |
T595S |
probably benign |
Het |
| Terf1 |
A |
G |
1: 15,805,685 (GRCm38) |
E3G |
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,278,054 (GRCm38) |
M457L |
possibly damaging |
Het |
| Tnfrsf26 |
C |
T |
7: 143,617,840 (GRCm38) |
|
probably null |
Het |
| Tor1aip1 |
A |
C |
1: 156,007,562 (GRCm38) |
M180R |
probably damaging |
Het |
| Trabd2b |
A |
T |
4: 114,610,008 (GRCm38) |
Q478L |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,807,592 (GRCm38) |
G516W |
probably damaging |
Het |
| Ttc30b |
G |
T |
2: 75,936,785 (GRCm38) |
H541Q |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,442,706 (GRCm38) |
Y464C |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 54,991,083 (GRCm38) |
S92G |
probably damaging |
Het |
| Unc5d |
A |
C |
8: 28,875,529 (GRCm38) |
S143A |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,464,556 (GRCm38) |
H2833L |
possibly damaging |
Het |
| Wdr17 |
T |
G |
8: 54,672,506 (GRCm38) |
K446N |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,508,048 (GRCm38) |
Q211L |
possibly damaging |
Het |
| Xkr7 |
G |
A |
2: 153,052,896 (GRCm38) |
R256Q |
probably benign |
Het |
| Zfp236 |
T |
C |
18: 82,621,304 (GRCm38) |
M1225V |
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,308,005 (GRCm38) |
F133L |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,375,970 (GRCm38) |
H479R |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,185,721 (GRCm38) |
N284S |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,268,434 (GRCm38) |
I1423F |
possibly damaging |
Het |
|
| Other mutations in Col4a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Col4a4
|
APN |
1 |
82,491,641 (GRCm38) |
missense |
unknown |
|
|
IGL01092:Col4a4
|
APN |
1 |
82,466,545 (GRCm38) |
missense |
unknown |
|
|
IGL01104:Col4a4
|
APN |
1 |
82,466,545 (GRCm38) |
missense |
unknown |
|
|
IGL01413:Col4a4
|
APN |
1 |
82,471,248 (GRCm38) |
missense |
unknown |
|
|
IGL01518:Col4a4
|
APN |
1 |
82,455,759 (GRCm38) |
missense |
unknown |
|
|
IGL02014:Col4a4
|
APN |
1 |
82,523,960 (GRCm38) |
splice site |
probably benign |
|
|
IGL02215:Col4a4
|
APN |
1 |
82,453,809 (GRCm38) |
missense |
unknown |
|
|
IGL02707:Col4a4
|
APN |
1 |
82,493,516 (GRCm38) |
missense |
unknown |
|
|
IGL02858:Col4a4
|
APN |
1 |
82,528,483 (GRCm38) |
missense |
unknown |
|
|
IGL02987:Col4a4
|
APN |
1 |
82,498,925 (GRCm38) |
splice site |
probably benign |
|
|
IGL03384:Col4a4
|
APN |
1 |
82,484,438 (GRCm38) |
missense |
probably benign |
0.04 |
|
amazement
|
UTSW |
1 |
82,480,486 (GRCm38) |
nonsense |
probably null |
|
|
aoba
|
UTSW |
1 |
82,535,740 (GRCm38) |
critical splice donor site |
probably benign |
|
|
asombro
|
UTSW |
1 |
82,489,009 (GRCm38) |
critical splice donor site |
probably null |
|
|
astonishment
|
UTSW |
1 |
82,455,728 (GRCm38) |
missense |
unknown |
|
|
wonderment
|
UTSW |
1 |
82,453,144 (GRCm38) |
missense |
unknown |
|
|
IGL02980:Col4a4
|
UTSW |
1 |
82,469,477 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0028:Col4a4
|
UTSW |
1 |
82,487,510 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0083:Col4a4
|
UTSW |
1 |
82,507,111 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0696:Col4a4
|
UTSW |
1 |
82,492,549 (GRCm38) |
missense |
unknown |
|
|
R0788:Col4a4
|
UTSW |
1 |
82,524,996 (GRCm38) |
missense |
unknown |
|
|
R0789:Col4a4
|
UTSW |
1 |
82,524,996 (GRCm38) |
missense |
unknown |
|
|
R0790:Col4a4
|
UTSW |
1 |
82,524,996 (GRCm38) |
missense |
unknown |
|
|
R0894:Col4a4
|
UTSW |
1 |
82,529,656 (GRCm38) |
splice site |
probably null |
|
|
R1217:Col4a4
|
UTSW |
1 |
82,489,009 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1465:Col4a4
|
UTSW |
1 |
82,497,822 (GRCm38) |
splice site |
probably null |
|
|
R1465:Col4a4
|
UTSW |
1 |
82,497,822 (GRCm38) |
splice site |
probably null |
|
|
R1474:Col4a4
|
UTSW |
1 |
82,480,486 (GRCm38) |
nonsense |
probably null |
|
|
R1508:Col4a4
|
UTSW |
1 |
82,455,836 (GRCm38) |
missense |
unknown |
|
|
R1640:Col4a4
|
UTSW |
1 |
82,535,770 (GRCm38) |
missense |
unknown |
|
|
R1678:Col4a4
|
UTSW |
1 |
82,486,659 (GRCm38) |
missense |
unknown |
|
|
R1827:Col4a4
|
UTSW |
1 |
82,539,988 (GRCm38) |
missense |
unknown |
|
|
R1930:Col4a4
|
UTSW |
1 |
82,466,600 (GRCm38) |
splice site |
probably null |
|
|
R1931:Col4a4
|
UTSW |
1 |
82,466,600 (GRCm38) |
splice site |
probably null |
|
|
R2092:Col4a4
|
UTSW |
1 |
82,498,946 (GRCm38) |
missense |
unknown |
|
|
R2122:Col4a4
|
UTSW |
1 |
82,456,871 (GRCm38) |
missense |
unknown |
|
|
R2396:Col4a4
|
UTSW |
1 |
82,507,072 (GRCm38) |
missense |
unknown |
|
|
R2418:Col4a4
|
UTSW |
1 |
82,532,936 (GRCm38) |
missense |
unknown |
|
|
R2679:Col4a4
|
UTSW |
1 |
82,529,611 (GRCm38) |
missense |
unknown |
|
|
R3085:Col4a4
|
UTSW |
1 |
82,529,564 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3437:Col4a4
|
UTSW |
1 |
82,497,168 (GRCm38) |
missense |
unknown |
|
|
R3697:Col4a4
|
UTSW |
1 |
82,541,237 (GRCm38) |
missense |
unknown |
|
|
R3730:Col4a4
|
UTSW |
1 |
82,455,751 (GRCm38) |
splice site |
probably null |
|
|
R3752:Col4a4
|
UTSW |
1 |
82,480,494 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4085:Col4a4
|
UTSW |
1 |
82,471,188 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4087:Col4a4
|
UTSW |
1 |
82,523,922 (GRCm38) |
missense |
unknown |
|
|
R4088:Col4a4
|
UTSW |
1 |
82,523,922 (GRCm38) |
missense |
unknown |
|
|
R4090:Col4a4
|
UTSW |
1 |
82,523,922 (GRCm38) |
missense |
unknown |
|
|
R4213:Col4a4
|
UTSW |
1 |
82,453,144 (GRCm38) |
missense |
unknown |
|
|
R4422:Col4a4
|
UTSW |
1 |
82,489,838 (GRCm38) |
missense |
unknown |
|
|
R4596:Col4a4
|
UTSW |
1 |
82,471,219 (GRCm38) |
missense |
unknown |
|
|
R4755:Col4a4
|
UTSW |
1 |
82,541,174 (GRCm38) |
missense |
unknown |
|
|
R4757:Col4a4
|
UTSW |
1 |
82,528,466 (GRCm38) |
missense |
unknown |
|
|
R4793:Col4a4
|
UTSW |
1 |
82,539,099 (GRCm38) |
missense |
unknown |
|
|
R4812:Col4a4
|
UTSW |
1 |
82,462,153 (GRCm38) |
missense |
unknown |
|
|
R4833:Col4a4
|
UTSW |
1 |
82,529,602 (GRCm38) |
missense |
unknown |
|
|
R5259:Col4a4
|
UTSW |
1 |
82,453,893 (GRCm38) |
missense |
unknown |
|
|
R5264:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5265:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5281:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5283:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5284:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5387:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5388:Col4a4
|
UTSW |
1 |
82,493,591 (GRCm38) |
missense |
unknown |
|
|
R5435:Col4a4
|
UTSW |
1 |
82,454,007 (GRCm38) |
missense |
unknown |
|
|
R5534:Col4a4
|
UTSW |
1 |
82,487,517 (GRCm38) |
missense |
unknown |
|
|
R5666:Col4a4
|
UTSW |
1 |
82,485,579 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5670:Col4a4
|
UTSW |
1 |
82,485,579 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5943:Col4a4
|
UTSW |
1 |
82,525,016 (GRCm38) |
missense |
unknown |
|
|
R5996:Col4a4
|
UTSW |
1 |
82,455,728 (GRCm38) |
missense |
unknown |
|
|
R5999:Col4a4
|
UTSW |
1 |
82,492,619 (GRCm38) |
missense |
unknown |
|
|
R6112:Col4a4
|
UTSW |
1 |
82,453,883 (GRCm38) |
missense |
unknown |
|
|
R6192:Col4a4
|
UTSW |
1 |
82,484,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6237:Col4a4
|
UTSW |
1 |
82,507,031 (GRCm38) |
missense |
unknown |
|
|
R6419:Col4a4
|
UTSW |
1 |
82,466,486 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6458:Col4a4
|
UTSW |
1 |
82,455,825 (GRCm38) |
missense |
unknown |
|
|
R6460:Col4a4
|
UTSW |
1 |
82,466,532 (GRCm38) |
missense |
unknown |
|
|
R6481:Col4a4
|
UTSW |
1 |
82,453,778 (GRCm38) |
missense |
unknown |
|
|
R6522:Col4a4
|
UTSW |
1 |
82,487,583 (GRCm38) |
missense |
unknown |
|
|
R7000:Col4a4
|
UTSW |
1 |
82,497,330 (GRCm38) |
missense |
unknown |
|
|
R7015:Col4a4
|
UTSW |
1 |
82,506,950 (GRCm38) |
missense |
unknown |
|
|
R7055:Col4a4
|
UTSW |
1 |
82,519,036 (GRCm38) |
missense |
unknown |
|
|
R7288:Col4a4
|
UTSW |
1 |
82,492,463 (GRCm38) |
missense |
unknown |
|
|
R7293:Col4a4
|
UTSW |
1 |
82,523,943 (GRCm38) |
missense |
unknown |
|
|
R7300:Col4a4
|
UTSW |
1 |
82,486,640 (GRCm38) |
missense |
unknown |
|
|
R7458:Col4a4
|
UTSW |
1 |
82,498,948 (GRCm38) |
missense |
unknown |
|
|
R7520:Col4a4
|
UTSW |
1 |
82,507,087 (GRCm38) |
nonsense |
probably null |
|
|
R7727:Col4a4
|
UTSW |
1 |
82,528,793 (GRCm38) |
missense |
unknown |
|
|
R7803:Col4a4
|
UTSW |
1 |
82,489,698 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7953:Col4a4
|
UTSW |
1 |
82,453,968 (GRCm38) |
missense |
unknown |
|
|
R7959:Col4a4
|
UTSW |
1 |
82,507,059 (GRCm38) |
missense |
unknown |
|
|
R7982:Col4a4
|
UTSW |
1 |
82,571,441 (GRCm38) |
start gained |
probably benign |
|
|
R8000:Col4a4
|
UTSW |
1 |
82,541,297 (GRCm38) |
missense |
unknown |
|
|
R8057:Col4a4
|
UTSW |
1 |
82,523,870 (GRCm38) |
missense |
unknown |
|
|
R8126:Col4a4
|
UTSW |
1 |
82,453,286 (GRCm38) |
missense |
unknown |
|
|
R8406:Col4a4
|
UTSW |
1 |
82,523,890 (GRCm38) |
missense |
unknown |
|
|
R8699:Col4a4
|
UTSW |
1 |
82,455,734 (GRCm38) |
missense |
unknown |
|
|
R8835:Col4a4
|
UTSW |
1 |
82,469,592 (GRCm38) |
missense |
unknown |
|
|
R8916:Col4a4
|
UTSW |
1 |
82,523,946 (GRCm38) |
missense |
unknown |
|
|
R8921:Col4a4
|
UTSW |
1 |
82,453,812 (GRCm38) |
missense |
unknown |
|
|
R8990:Col4a4
|
UTSW |
1 |
82,495,834 (GRCm38) |
missense |
unknown |
|
|
R9002:Col4a4
|
UTSW |
1 |
82,471,311 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9116:Col4a4
|
UTSW |
1 |
82,454,031 (GRCm38) |
missense |
unknown |
|
|
R9176:Col4a4
|
UTSW |
1 |
82,485,628 (GRCm38) |
missense |
unknown |
|
|
R9211:Col4a4
|
UTSW |
1 |
82,528,780 (GRCm38) |
missense |
unknown |
|
|
R9246:Col4a4
|
UTSW |
1 |
82,453,235 (GRCm38) |
missense |
unknown |
|
|
R9463:Col4a4
|
UTSW |
1 |
82,453,355 (GRCm38) |
missense |
unknown |
|
|
R9666:Col4a4
|
UTSW |
1 |
82,518,949 (GRCm38) |
missense |
unknown |
|
|
R9686:Col4a4
|
UTSW |
1 |
82,497,241 (GRCm38) |
missense |
unknown |
|
|
R9705:Col4a4
|
UTSW |
1 |
82,487,592 (GRCm38) |
missense |
unknown |
|
|
R9749:Col4a4
|
UTSW |
1 |
82,485,632 (GRCm38) |
missense |
unknown |
|
|
R9774:Col4a4
|
UTSW |
1 |
82,506,944 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0020:Col4a4
|
UTSW |
1 |
82,539,952 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1088:Col4a4
|
UTSW |
1 |
82,453,196 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGAGAAGGTATCCAGCCAG -3'
(R):5'- GAGTCACTCAGGAATCTCAGC -3'
Sequencing Primer
(F):5'- GAAGGTATCCAGCCAGATAGG -3'
(R):5'- TCTCAGCCAACCTTCATAGAGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation