Incidental Mutation 'R1837:Med1'
| ID |
205424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Med1
|
| Ensembl Gene |
ENSMUSG00000018160 |
| Gene Name |
mediator complex subunit 1 |
| Synonyms |
DRIP205, TRAP220, PBP, Pparbp, CRSP210, l11Jus15, TRAP 220 |
| MMRRC Submission |
039864-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98060238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 230
(D230E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018304
AA Change: D215E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: D215E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
18 |
414 |
3.7e-112 |
PFAM |
|
low complexity region
|
536 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1205 |
1243 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1281 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1364 |
N/A |
INTRINSIC |
|
low complexity region
|
1482 |
1503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092735
AA Change: D230E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: D230E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107545
AA Change: D230E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: D230E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
59 |
426 |
2.9e-74 |
PFAM |
|
low complexity region
|
551 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1153 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1258 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1379 |
N/A |
INTRINSIC |
|
low complexity region
|
1497 |
1518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135479
|
| Meta Mutation Damage Score |
0.3421 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
99% (86/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
G |
T |
2: 154,394,962 (GRCm39) |
G305W |
probably damaging |
Het |
| Actr3b |
A |
T |
5: 26,030,157 (GRCm39) |
T74S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,095,540 (GRCm39) |
E652G |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,717,615 (GRCm39) |
V83D |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,643 (GRCm39) |
Y244* |
probably null |
Het |
| BB014433 |
C |
G |
8: 15,092,629 (GRCm39) |
V75L |
unknown |
Het |
| Bcr |
A |
G |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Bzw1 |
A |
G |
1: 58,439,277 (GRCm39) |
K67E |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Cdc73 |
T |
A |
1: 143,543,395 (GRCm39) |
T314S |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,728,813 (GRCm39) |
T31A |
probably damaging |
Het |
| Cfap58 |
G |
A |
19: 48,017,578 (GRCm39) |
E813K |
probably damaging |
Het |
| Clstn2 |
C |
A |
9: 97,465,593 (GRCm39) |
A133S |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,245,891 (GRCm39) |
D465V |
unknown |
Het |
| Col2a1 |
C |
T |
15: 97,894,522 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,365,957 (GRCm39) |
|
probably benign |
Het |
| Eme1 |
T |
C |
11: 94,536,787 (GRCm39) |
D464G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,802 (GRCm39) |
|
probably null |
Het |
| Ern1 |
C |
A |
11: 106,349,783 (GRCm39) |
L44F |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,816 (GRCm39) |
S188R |
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,610,639 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,750,379 (GRCm39) |
N226D |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,415,128 (GRCm39) |
D214G |
probably benign |
Het |
| Gm14226 |
A |
G |
2: 154,866,930 (GRCm39) |
I296V |
probably benign |
Het |
| Gm9915 |
A |
T |
1: 42,269,847 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
T |
C |
17: 79,128,180 (GRCm39) |
D485G |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,082 (GRCm39) |
I2785N |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,367 (GRCm39) |
T723M |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,257 (GRCm39) |
H3595Q |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,797,579 (GRCm39) |
D96G |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,072,684 (GRCm39) |
Q702* |
probably null |
Het |
| Klhdc7a |
G |
T |
4: 139,694,381 (GRCm39) |
P189T |
probably benign |
Het |
| Krt7 |
A |
G |
15: 101,317,463 (GRCm39) |
D252G |
probably benign |
Het |
| Lad1 |
C |
A |
1: 135,757,444 (GRCm39) |
D394E |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,033,692 (GRCm39) |
C38S |
possibly damaging |
Het |
| Lta4h |
C |
T |
10: 93,305,037 (GRCm39) |
T280M |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,409 (GRCm39) |
F171I |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,639,273 (GRCm39) |
E135G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,360,823 (GRCm39) |
M1378K |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,467,604 (GRCm39) |
Q286L |
possibly damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,408 (GRCm39) |
G391R |
probably damaging |
Het |
| Nefl |
C |
T |
14: 68,324,075 (GRCm39) |
R438C |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,439,742 (GRCm39) |
V440I |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,343,296 (GRCm39) |
L1959Q |
probably damaging |
Het |
| Noto |
A |
G |
6: 85,401,159 (GRCm39) |
T63A |
probably benign |
Het |
| Oc90 |
G |
A |
15: 65,761,529 (GRCm39) |
T163M |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,114 (GRCm39) |
M287K |
probably benign |
Het |
| Or4c114 |
A |
T |
2: 88,905,176 (GRCm39) |
Y86* |
probably null |
Het |
| Or5an10 |
A |
G |
19: 12,275,740 (GRCm39) |
V252A |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,861,366 (GRCm39) |
P787T |
probably damaging |
Het |
| Phlda1 |
A |
G |
10: 111,343,092 (GRCm39) |
Q276R |
probably benign |
Het |
| Ptpn21 |
T |
G |
12: 98,699,885 (GRCm39) |
K10Q |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,531 (GRCm39) |
E1364G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,484 (GRCm39) |
W237R |
probably damaging |
Het |
| Rai1 |
A |
T |
11: 60,080,224 (GRCm39) |
K1429N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,438 (GRCm39) |
I1027M |
probably damaging |
Het |
| Rit1 |
C |
G |
3: 88,636,477 (GRCm39) |
T127S |
probably damaging |
Het |
| Rpap1 |
A |
C |
2: 119,600,366 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,978,879 (GRCm39) |
C471S |
probably benign |
Het |
| Slc16a14 |
A |
G |
1: 84,890,120 (GRCm39) |
V395A |
probably benign |
Het |
| Slc45a1 |
C |
T |
4: 150,722,916 (GRCm39) |
G323S |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,014,434 (GRCm39) |
E3208D |
probably damaging |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,799 (GRCm39) |
E432G |
possibly damaging |
Het |
| Tmem192 |
C |
A |
8: 65,416,992 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
T |
C |
19: 57,441,461 (GRCm39) |
V28A |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,028,106 (GRCm39) |
L1121H |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,735,764 (GRCm39) |
D290G |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,247 (GRCm39) |
G683D |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,291 (GRCm39) |
F255I |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,886 (GRCm39) |
I289F |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Wdr48 |
T |
G |
9: 119,734,482 (GRCm39) |
S134A |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,962,350 (GRCm39) |
Y139N |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,107 (GRCm39) |
V486A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,048 (GRCm39) |
T679A |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,810,264 (GRCm39) |
S927P |
probably damaging |
Het |
| Zfp324 |
C |
T |
7: 12,704,156 (GRCm39) |
T115I |
probably benign |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,070,247 (GRCm39) |
C551S |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,590 (GRCm39) |
H205R |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
possibly damaging |
Het |
|
| Other mutations in Med1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Med1
|
APN |
11 |
98,046,510 (GRCm39) |
intron |
probably benign |
|
|
IGL00690:Med1
|
APN |
11 |
98,060,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01087:Med1
|
APN |
11 |
98,071,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01133:Med1
|
APN |
11 |
98,048,812 (GRCm39) |
nonsense |
probably null |
|
|
IGL02223:Med1
|
APN |
11 |
98,048,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Med1
|
APN |
11 |
98,071,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02699:Med1
|
APN |
11 |
98,070,851 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02706:Med1
|
APN |
11 |
98,047,533 (GRCm39) |
intron |
probably benign |
|
|
IGL02902:Med1
|
APN |
11 |
98,047,335 (GRCm39) |
intron |
probably benign |
|
|
IGL02986:Med1
|
APN |
11 |
98,047,086 (GRCm39) |
intron |
probably benign |
|
|
IGL03011:Med1
|
APN |
11 |
98,051,859 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03282:Med1
|
APN |
11 |
98,047,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03303:Med1
|
APN |
11 |
98,049,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Med1
|
APN |
11 |
98,080,006 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03410:Med1
|
APN |
11 |
98,080,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4453001:Med1
|
UTSW |
11 |
98,049,243 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0040:Med1
|
UTSW |
11 |
98,057,081 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0206:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0206:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0208:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R0310:Med1
|
UTSW |
11 |
98,058,400 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0505:Med1
|
UTSW |
11 |
98,047,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Med1
|
UTSW |
11 |
98,060,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0680:Med1
|
UTSW |
11 |
98,070,992 (GRCm39) |
splice site |
probably null |
|
|
R0686:Med1
|
UTSW |
11 |
98,049,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0698:Med1
|
UTSW |
11 |
98,046,515 (GRCm39) |
intron |
probably benign |
|
|
R1293:Med1
|
UTSW |
11 |
98,047,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1302:Med1
|
UTSW |
11 |
98,048,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1365:Med1
|
UTSW |
11 |
98,046,821 (GRCm39) |
intron |
probably benign |
|
|
R1537:Med1
|
UTSW |
11 |
98,051,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1609:Med1
|
UTSW |
11 |
98,051,996 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1631:Med1
|
UTSW |
11 |
98,046,452 (GRCm39) |
intron |
probably benign |
|
|
R1792:Med1
|
UTSW |
11 |
98,048,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Med1
|
UTSW |
11 |
98,047,437 (GRCm39) |
intron |
probably benign |
|
|
R2366:Med1
|
UTSW |
11 |
98,052,008 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3754:Med1
|
UTSW |
11 |
98,057,548 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3762:Med1
|
UTSW |
11 |
98,046,341 (GRCm39) |
intron |
probably benign |
|
|
R4012:Med1
|
UTSW |
11 |
98,062,532 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4112:Med1
|
UTSW |
11 |
98,070,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Med1
|
UTSW |
11 |
98,043,688 (GRCm39) |
unclassified |
probably benign |
|
|
R4579:Med1
|
UTSW |
11 |
98,049,248 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4740:Med1
|
UTSW |
11 |
98,071,090 (GRCm39) |
nonsense |
probably null |
|
|
R4819:Med1
|
UTSW |
11 |
98,046,258 (GRCm39) |
intron |
probably benign |
|
|
R4879:Med1
|
UTSW |
11 |
98,046,186 (GRCm39) |
unclassified |
probably benign |
|
|
R4993:Med1
|
UTSW |
11 |
98,054,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Med1
|
UTSW |
11 |
98,046,230 (GRCm39) |
intron |
probably benign |
|
|
R5249:Med1
|
UTSW |
11 |
98,048,066 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5373:Med1
|
UTSW |
11 |
98,054,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5374:Med1
|
UTSW |
11 |
98,054,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5552:Med1
|
UTSW |
11 |
98,057,157 (GRCm39) |
nonsense |
probably null |
|
|
R5692:Med1
|
UTSW |
11 |
98,047,206 (GRCm39) |
intron |
probably benign |
|
|
R6010:Med1
|
UTSW |
11 |
98,049,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Med1
|
UTSW |
11 |
98,074,679 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6417:Med1
|
UTSW |
11 |
98,048,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7301:Med1
|
UTSW |
11 |
98,043,634 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7507:Med1
|
UTSW |
11 |
98,048,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Med1
|
UTSW |
11 |
98,046,791 (GRCm39) |
missense |
unknown |
|
|
R7588:Med1
|
UTSW |
11 |
98,046,398 (GRCm39) |
missense |
unknown |
|
|
R7654:Med1
|
UTSW |
11 |
98,060,189 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7662:Med1
|
UTSW |
11 |
98,046,218 (GRCm39) |
missense |
unknown |
|
|
R7679:Med1
|
UTSW |
11 |
98,046,887 (GRCm39) |
missense |
unknown |
|
|
R7862:Med1
|
UTSW |
11 |
98,052,036 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8447:Med1
|
UTSW |
11 |
98,060,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Med1
|
UTSW |
11 |
98,046,599 (GRCm39) |
missense |
unknown |
|
|
R8843:Med1
|
UTSW |
11 |
98,080,102 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9072:Med1
|
UTSW |
11 |
98,080,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9284:Med1
|
UTSW |
11 |
98,046,366 (GRCm39) |
missense |
unknown |
|
|
R9428:Med1
|
UTSW |
11 |
98,080,049 (GRCm39) |
nonsense |
probably null |
|
|
R9465:Med1
|
UTSW |
11 |
98,049,144 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9531:Med1
|
UTSW |
11 |
98,048,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9537:Med1
|
UTSW |
11 |
98,062,586 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9548:Med1
|
UTSW |
11 |
98,070,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9680:Med1
|
UTSW |
11 |
98,071,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9696:Med1
|
UTSW |
11 |
98,061,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Med1
|
UTSW |
11 |
98,052,009 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTAACTCCACCACCTG -3'
(R):5'- CAAGGTAATCACTCTTCTCTGAGC -3'
Sequencing Primer
(F):5'- ATACTCTCAGTTCTTGGAAGGC -3'
(R):5'- GGTAATCACTCTTCTCTGAGCTGTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation