Incidental Mutation 'R5249:Med1'
| ID |
398854 |
| 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 |
042820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5249 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98048066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 910
(M910K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018304]
[ENSMUST00000092735]
[ENSMUST00000107545]
|
| AlphaFold |
Q925J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018304
AA Change: M895K
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: M895K
| 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 benign
Transcript: ENSMUST00000092735
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med1
|
33 |
429 |
1.2e-113 |
PFAM |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107545
AA Change: M910K
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: M910K
| 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: ENSMUST00000126483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147933
|
| Meta Mutation Damage Score |
0.0668 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (93/95) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,284 (GRCm39) |
H148R |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,037,885 (GRCm39) |
D394G |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,115,868 (GRCm39) |
T609A |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,208,991 (GRCm39) |
N752K |
probably benign |
Het |
| Ano6 |
A |
C |
15: 95,811,469 (GRCm39) |
S176R |
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,302,918 (GRCm39) |
S19P |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,976,364 (GRCm39) |
E437G |
probably damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,095,982 (GRCm39) |
C46* |
probably null |
Het |
| Arhgef26 |
T |
A |
3: 62,247,981 (GRCm39) |
L355Q |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,644,983 (GRCm39) |
T219I |
probably damaging |
Het |
| Bap1 |
C |
T |
14: 30,979,243 (GRCm39) |
|
probably benign |
Het |
| Catip |
T |
G |
1: 74,401,954 (GRCm39) |
L43R |
probably damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,805,282 (GRCm39) |
R331C |
unknown |
Het |
| Cep85l |
T |
C |
10: 53,195,690 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
A |
4: 34,714,502 (GRCm39) |
Q398L |
probably benign |
Het |
| Clec18a |
A |
G |
8: 111,800,368 (GRCm39) |
C352R |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,336,339 (GRCm39) |
Y549F |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,270,034 (GRCm39) |
|
probably benign |
Het |
| Cyb5r3 |
A |
C |
15: 83,042,836 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,090,471 (GRCm39) |
R2293K |
probably damaging |
Het |
| Dnmbp |
C |
A |
19: 43,890,879 (GRCm39) |
R296L |
probably damaging |
Het |
| Dtwd1 |
C |
A |
2: 125,996,694 (GRCm39) |
Q60K |
probably benign |
Het |
| Esyt1 |
C |
A |
10: 128,352,443 (GRCm39) |
V723L |
probably benign |
Het |
| Fbxo42 |
T |
C |
4: 140,926,335 (GRCm39) |
L339P |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,043,169 (GRCm39) |
N347K |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,522,522 (GRCm39) |
M135T |
probably damaging |
Het |
| Garin1b |
A |
G |
6: 29,323,896 (GRCm39) |
D207G |
probably damaging |
Het |
| Hlf |
A |
G |
11: 90,278,632 (GRCm39) |
M144T |
probably benign |
Het |
| Hyal5 |
C |
T |
6: 24,876,648 (GRCm39) |
Q174* |
probably null |
Het |
| Kcnb1 |
T |
A |
2: 166,947,103 (GRCm39) |
M582L |
possibly damaging |
Het |
| Kdm5d |
T |
C |
Y: 916,692 (GRCm39) |
Y391H |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,604,032 (GRCm39) |
I283N |
probably damaging |
Het |
| Kif21b |
C |
T |
1: 136,096,966 (GRCm39) |
T1297M |
probably damaging |
Het |
| Krt8 |
T |
G |
15: 101,906,875 (GRCm39) |
N317T |
possibly damaging |
Het |
| Lctl |
G |
T |
9: 64,045,196 (GRCm39) |
V372L |
probably benign |
Het |
| Lig1 |
C |
T |
7: 13,042,432 (GRCm39) |
H822Y |
possibly damaging |
Het |
| Lrrc4b |
A |
G |
7: 44,111,988 (GRCm39) |
D620G |
possibly damaging |
Het |
| Mboat4 |
C |
T |
8: 34,582,275 (GRCm39) |
H10Y |
probably benign |
Het |
| Mia2 |
A |
T |
12: 59,154,911 (GRCm39) |
D209V |
probably damaging |
Het |
| Mpp4 |
C |
T |
1: 59,184,017 (GRCm39) |
|
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,225 (GRCm39) |
V229E |
possibly damaging |
Het |
| Mtor |
T |
A |
4: 148,548,189 (GRCm39) |
C485S |
probably damaging |
Het |
| Mx1 |
T |
C |
16: 97,258,628 (GRCm39) |
D23G |
probably damaging |
Het |
| Myrfl |
T |
C |
10: 116,619,138 (GRCm39) |
D740G |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nav2 |
G |
A |
7: 49,185,661 (GRCm39) |
V874I |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,110,914 (GRCm39) |
N262K |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,437,077 (GRCm39) |
D699V |
probably damaging |
Het |
| Or10u4 |
C |
T |
10: 129,802,078 (GRCm39) |
A164T |
probably benign |
Het |
| Or8b51 |
A |
G |
9: 38,569,374 (GRCm39) |
C105R |
possibly damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,181 (GRCm39) |
N495D |
possibly damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,320,950 (GRCm39) |
D53G |
probably benign |
Het |
| Pdcd5 |
A |
G |
7: 35,346,421 (GRCm39) |
|
probably benign |
Het |
| Phf21a |
C |
T |
2: 92,058,822 (GRCm39) |
P28L |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,158,130 (GRCm39) |
D573E |
probably damaging |
Het |
| Ppp1r35 |
C |
T |
5: 137,777,406 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,535,496 (GRCm39) |
Q423R |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,490,125 (GRCm39) |
Y699F |
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,241,841 (GRCm39) |
D415G |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,413,943 (GRCm39) |
E23G |
probably benign |
Het |
| Rpia |
G |
T |
6: 70,760,563 (GRCm39) |
C121* |
probably null |
Het |
| Sanbr |
A |
G |
11: 23,525,483 (GRCm39) |
*719Q |
probably null |
Het |
| Serpinb13 |
T |
A |
1: 106,926,427 (GRCm39) |
W201R |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,065,456 (GRCm39) |
C17R |
probably damaging |
Het |
| Sh3d21 |
A |
G |
4: 126,055,858 (GRCm39) |
|
probably benign |
Het |
| Slamf6 |
A |
C |
1: 171,764,249 (GRCm39) |
N214T |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,361,130 (GRCm39) |
Y365H |
possibly damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,971 (GRCm39) |
|
probably null |
Het |
| Spink7 |
A |
T |
18: 62,725,507 (GRCm39) |
F79I |
possibly damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,470,244 (GRCm39) |
H4561L |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,653,793 (GRCm39) |
K700R |
probably benign |
Het |
| Tcf25 |
G |
T |
8: 124,115,372 (GRCm39) |
R203L |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,290,757 (GRCm39) |
I201V |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,615 (GRCm39) |
D685G |
unknown |
Het |
| Themis |
G |
T |
10: 28,637,195 (GRCm39) |
E100* |
probably null |
Het |
| Tmem52b |
G |
A |
6: 129,491,221 (GRCm39) |
|
probably null |
Het |
| Tnr |
C |
T |
1: 159,512,226 (GRCm39) |
|
probably benign |
Het |
| Tox3 |
T |
C |
8: 90,975,444 (GRCm39) |
I396V |
probably benign |
Het |
| Tpm2 |
T |
A |
4: 43,514,828 (GRCm39) |
E269V |
probably benign |
Het |
| Tulp1 |
C |
T |
17: 28,581,651 (GRCm39) |
|
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Ube2j2 |
A |
C |
4: 156,033,515 (GRCm39) |
K30Q |
possibly damaging |
Het |
| Usp19 |
T |
A |
9: 108,369,807 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r52 |
C |
A |
7: 9,910,197 (GRCm39) |
R6L |
probably benign |
Het |
| Zbed4 |
G |
A |
15: 88,665,290 (GRCm39) |
V453M |
probably benign |
Het |
| Zfp319 |
T |
C |
8: 96,055,099 (GRCm39) |
E368G |
probably benign |
Het |
| Zfp366 |
A |
C |
13: 99,366,117 (GRCm39) |
E426A |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,916,777 (GRCm39) |
I783N |
probably 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 |
|
|
R1837:Med1
|
UTSW |
11 |
98,060,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- ATCCACTGCTAGCACCTGTG -3'
(R):5'- GCCCCAATAGTGATTCTCCTAC -3'
Sequencing Primer
(F):5'- ACCTGTGCCGTTGCCTTC -3'
(R):5'- CCCAATAGTGATTCTCCTACCAATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation