Incidental Mutation 'PIT4453001:Med1'
| ID |
555345 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4453001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98042980-98084119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98049243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 518
(I518L)
|
| 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: I503L
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018304
Gene: ENSMUSG00000018160
AA Change: I503L
| 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 |
possibly damaging
Transcript: ENSMUST00000092735
AA Change: I518L
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090411
Gene: ENSMUSG00000018160
AA Change: I518L
| 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: I518L
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103169
Gene: ENSMUSG00000018160
AA Change: I518L
| 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 |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.9%
- 10x: 85.6%
- 20x: 74.1%
|
| Validation Efficiency |
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
G |
3: 121,898,965 (GRCm39) |
I649S |
probably damaging |
Het |
| Abcc2 |
T |
A |
19: 43,792,221 (GRCm39) |
L334* |
probably null |
Het |
| Adam28 |
A |
T |
14: 68,872,325 (GRCm39) |
S306T |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,104,349 (GRCm39) |
D432V |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,050,264 (GRCm39) |
Y723C |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,451,089 (GRCm39) |
M713L |
probably benign |
Het |
| Aebp2 |
C |
A |
6: 140,583,412 (GRCm39) |
C295* |
probably null |
Het |
| Amn1 |
G |
T |
6: 149,072,357 (GRCm39) |
Q127K |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,046,383 (GRCm39) |
V314M |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,488,495 (GRCm39) |
E847G |
probably benign |
Het |
| Atp2b1 |
A |
G |
10: 98,852,840 (GRCm39) |
E1039G |
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,718,266 (GRCm39) |
Y292C |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,214,105 (GRCm39) |
T94A |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,787,788 (GRCm39) |
K182M |
probably damaging |
Het |
| Col1a2 |
A |
C |
6: 4,527,079 (GRCm39) |
S603R |
possibly damaging |
Het |
| Cspp1 |
C |
A |
1: 10,145,097 (GRCm39) |
S298R |
possibly damaging |
Het |
| Cul7 |
T |
A |
17: 46,962,746 (GRCm39) |
C126S |
probably damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Cypt4 |
G |
C |
9: 24,536,770 (GRCm39) |
A87P |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,618,125 (GRCm39) |
V224M |
probably benign |
Het |
| Dlgap5 |
TTC |
T |
14: 47,638,979 (GRCm39) |
|
probably null |
Het |
| Dock1 |
A |
G |
7: 134,754,029 (GRCm39) |
K1602R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,647,562 (GRCm39) |
I241V |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,752,489 (GRCm39) |
T975A |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,388,121 (GRCm39) |
T660A |
probably benign |
Het |
| Fbxw7 |
G |
A |
3: 84,872,621 (GRCm39) |
V268M |
|
Het |
| Gart |
A |
G |
16: 91,433,426 (GRCm39) |
F289S |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,681,520 (GRCm39) |
N391K |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,533,031 (GRCm39) |
Q975P |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,533,032 (GRCm39) |
Q975H |
probably benign |
Het |
| Grik5 |
C |
A |
7: 24,710,119 (GRCm39) |
R872L |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,921 (GRCm39) |
I218N |
probably damaging |
Het |
| Hook1 |
A |
T |
4: 95,903,089 (GRCm39) |
D526V |
probably damaging |
Het |
| Ifna4 |
A |
T |
4: 88,760,191 (GRCm39) |
N32Y |
probably damaging |
Het |
| Ighg2b |
T |
A |
12: 113,270,492 (GRCm39) |
N213Y |
unknown |
Het |
| Itih4 |
G |
A |
14: 30,623,127 (GRCm39) |
V900I |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,274,671 (GRCm39) |
F837Y |
probably damaging |
Het |
| Kif3a |
T |
C |
11: 53,469,941 (GRCm39) |
V147A |
probably benign |
Het |
| Klra9 |
T |
A |
6: 130,168,284 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
G |
T |
16: 19,492,210 (GRCm39) |
Q345K |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,807,822 (GRCm39) |
E1188K |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,205,447 (GRCm39) |
T242A |
probably damaging |
Het |
| Nemp1 |
T |
A |
10: 127,532,123 (GRCm39) |
F392Y |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,951,802 (GRCm39) |
G3984W |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,960,660 (GRCm39) |
H3217L |
possibly damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,823 (GRCm39) |
M74T |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or2d3b |
C |
T |
7: 106,514,136 (GRCm39) |
H244Y |
probably damaging |
Het |
| Or2d3c |
T |
C |
7: 106,526,049 (GRCm39) |
I206V |
probably benign |
Het |
| Or5l14 |
C |
T |
2: 87,792,802 (GRCm39) |
V145M |
possibly damaging |
Het |
| P4ha1 |
G |
T |
10: 59,186,294 (GRCm39) |
A258S |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,145 (GRCm39) |
I423V |
probably benign |
Het |
| Pcdh20 |
C |
A |
14: 88,704,744 (GRCm39) |
S852I |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,722,784 (GRCm39) |
|
probably null |
Het |
| Pcsk1 |
A |
T |
13: 75,260,769 (GRCm39) |
I331F |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,748,761 (GRCm39) |
S1803R |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,387,433 (GRCm39) |
N1792K |
probably damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,913,469 (GRCm39) |
Q1119K |
|
Het |
| Prr30 |
T |
A |
14: 101,436,371 (GRCm39) |
T64S |
probably benign |
Het |
| Rec114 |
T |
C |
9: 58,567,653 (GRCm39) |
N111S |
probably benign |
Het |
| Reck |
G |
A |
4: 43,895,850 (GRCm39) |
V79I |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,231 (GRCm39) |
F276L |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,197,793 (GRCm39) |
R2149G |
probably benign |
Het |
| Slc20a2 |
C |
A |
8: 23,025,398 (GRCm39) |
F33L |
probably damaging |
Het |
| Spopl |
T |
A |
2: 23,435,461 (GRCm39) |
T25S |
probably damaging |
Het |
| Srcap |
A |
T |
7: 127,148,492 (GRCm39) |
I1947F |
possibly damaging |
Het |
| Srek1 |
A |
C |
13: 103,881,291 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
C |
T |
6: 142,774,978 (GRCm39) |
W200* |
probably null |
Het |
| Tas2r106 |
A |
T |
6: 131,655,465 (GRCm39) |
F129I |
possibly damaging |
Het |
| Tbrg4 |
A |
T |
11: 6,570,857 (GRCm39) |
L205Q |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,353,187 (GRCm39) |
R876S |
unknown |
Het |
| Thap12 |
G |
T |
7: 98,364,245 (GRCm39) |
A138S |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,993,362 (GRCm39) |
|
probably null |
Het |
| Traf4 |
G |
A |
11: 78,052,360 (GRCm39) |
P95L |
probably benign |
Het |
| Trappc9 |
ATCTC |
ATCTCTC |
15: 72,903,447 (GRCm39) |
|
probably null |
Het |
| Usp20 |
G |
A |
2: 30,907,498 (GRCm39) |
V677M |
possibly damaging |
Het |
| Usp50 |
C |
A |
2: 126,625,236 (GRCm39) |
|
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,821,307 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,363,669 (GRCm39) |
H408L |
probably benign |
Het |
| Zfp266 |
T |
C |
9: 20,417,299 (GRCm39) |
T30A |
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,179,182 (GRCm39) |
H1141R |
probably benign |
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 |
|
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 |
|
|
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'- TTGCTGAAGTCCTCCCCATG -3'
(R):5'- CTAACTGCTGTTTTCTGAGGC -3'
Sequencing Primer
(F):5'- GACTCATGCCGATCTTTGATG -3'
(R):5'- CTGAGGCTTATGTAAATCACAGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation