Incidental Mutation 'R1812:Dscaml1'
| ID |
202480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dscaml1
|
| Ensembl Gene |
ENSMUSG00000032087 |
| Gene Name |
DS cell adhesion molecule like 1 |
| Synonyms |
4921507G06Rik, 4930435C18Rik |
| MMRRC Submission |
039840-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R1812 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45338735-45665011 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 45662584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034592]
|
| AlphaFold |
Q4VA61 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034592
|
| SMART Domains |
Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
55 |
N/A |
INTRINSIC |
|
IG_like
|
96 |
168 |
1.22e0 |
SMART |
|
IG
|
189 |
277 |
1.15e-3 |
SMART |
|
IGc2
|
296 |
359 |
2.54e-14 |
SMART |
|
IGc2
|
385 |
451 |
8.12e-13 |
SMART |
|
IGc2
|
478 |
550 |
9.55e-10 |
SMART |
|
IGc2
|
575 |
640 |
9.78e-7 |
SMART |
|
IGc2
|
666 |
734 |
5.93e-6 |
SMART |
|
IGc2
|
760 |
832 |
6.75e-10 |
SMART |
|
IG
|
853 |
943 |
1e-3 |
SMART |
|
FN3
|
945 |
1029 |
6.64e-7 |
SMART |
|
FN3
|
1045 |
1133 |
9.46e-12 |
SMART |
|
FN3
|
1148 |
1234 |
3.2e-9 |
SMART |
|
FN3
|
1249 |
1332 |
3.48e-10 |
SMART |
|
IGc2
|
1363 |
1428 |
1.49e-11 |
SMART |
|
FN3
|
1442 |
1522 |
3.42e-9 |
SMART |
|
FN3
|
1537 |
1618 |
2.14e-1 |
SMART |
|
low complexity region
|
1671 |
1683 |
N/A |
INTRINSIC |
|
low complexity region
|
2018 |
2026 |
N/A |
INTRINSIC |
|
low complexity region
|
2035 |
2069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214151
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.3%
- 10x: 93.2%
- 20x: 85.7%
|
| Validation Efficiency |
100% (1/1) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,164,740 (GRCm39) |
Q545* |
probably null |
Het |
| Aadacl2 |
T |
C |
3: 59,932,498 (GRCm39) |
C338R |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,978,578 (GRCm39) |
|
probably null |
Het |
| Adam17 |
T |
C |
12: 21,411,768 (GRCm39) |
D41G |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,582,540 (GRCm39) |
I119F |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,387,304 (GRCm39) |
S1586T |
probably benign |
Het |
| Arid4b |
C |
T |
13: 14,370,014 (GRCm39) |
A1170V |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,023,873 (GRCm39) |
T1659A |
probably damaging |
Het |
| Bub1b |
T |
G |
2: 118,462,902 (GRCm39) |
D754E |
probably benign |
Het |
| Cdkn1a |
T |
C |
17: 29,317,539 (GRCm39) |
V53A |
probably benign |
Het |
| Chsy1 |
T |
G |
7: 65,821,565 (GRCm39) |
V600G |
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,039,481 (GRCm39) |
V561M |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,805,253 (GRCm39) |
C1218R |
unknown |
Het |
| Crhr1 |
T |
C |
11: 104,059,973 (GRCm39) |
L140P |
probably damaging |
Het |
| Cyb5b |
CAGAG |
CAG |
8: 107,897,020 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,039,621 (GRCm39) |
Q298L |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,169,500 (GRCm39) |
E638G |
possibly damaging |
Het |
| Ddx41 |
A |
G |
13: 55,683,767 (GRCm39) |
I88T |
probably benign |
Het |
| Dennd11 |
A |
G |
6: 40,386,365 (GRCm39) |
I288T |
probably benign |
Het |
| Diaph1 |
G |
T |
18: 38,024,071 (GRCm39) |
P589Q |
unknown |
Het |
| Dip2b |
C |
A |
15: 100,096,819 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,629,334 (GRCm39) |
A4246V |
possibly damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,338,431 (GRCm39) |
I158T |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,489,840 (GRCm39) |
Y3584C |
probably damaging |
Het |
| Fxyd5 |
T |
A |
7: 30,737,355 (GRCm39) |
|
probably null |
Het |
| Gapvd1 |
T |
A |
2: 34,615,076 (GRCm39) |
K336* |
probably null |
Het |
| Gm9637 |
G |
A |
14: 19,402,395 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr65 |
C |
T |
12: 98,242,001 (GRCm39) |
T218M |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,219 (GRCm39) |
V203A |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,925,471 (GRCm39) |
K969* |
probably null |
Het |
| Hipk2 |
G |
A |
6: 38,675,098 (GRCm39) |
A1188V |
probably benign |
Het |
| Itpk1 |
T |
A |
12: 102,540,317 (GRCm39) |
E255D |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,855,969 (GRCm39) |
D596G |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,077,879 (GRCm39) |
I405N |
probably benign |
Het |
| Klk1b11 |
T |
A |
7: 43,427,179 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
A |
4: 136,269,642 (GRCm39) |
L622M |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,325,817 (GRCm39) |
I5227F |
probably damaging |
Het |
| Mapk10 |
A |
C |
5: 103,061,128 (GRCm39) |
S470A |
probably damaging |
Het |
| Morc2a |
C |
T |
11: 3,635,831 (GRCm39) |
T897I |
probably damaging |
Het |
| Nmbr |
A |
G |
10: 14,636,283 (GRCm39) |
|
probably null |
Het |
| Nosip |
T |
A |
7: 44,725,998 (GRCm39) |
M214K |
probably damaging |
Het |
| Or13c7d |
G |
T |
4: 43,770,230 (GRCm39) |
Y260* |
probably null |
Het |
| Or52m2 |
A |
T |
7: 102,263,577 (GRCm39) |
N206K |
possibly damaging |
Het |
| Or52r1 |
T |
C |
7: 102,537,285 (GRCm39) |
Y25C |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,447 (GRCm39) |
F260L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,899 (GRCm39) |
V286E |
probably damaging |
Het |
| Ppfia4 |
T |
A |
1: 134,252,311 (GRCm39) |
I388F |
probably benign |
Het |
| Ppm1f |
A |
G |
16: 16,735,651 (GRCm39) |
H289R |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,959,711 (GRCm39) |
D69E |
probably benign |
Het |
| Rad54b |
A |
T |
4: 11,612,770 (GRCm39) |
T801S |
probably damaging |
Het |
| Ramp1 |
A |
T |
1: 91,124,579 (GRCm39) |
N47Y |
probably damaging |
Het |
| Rnf32 |
T |
A |
5: 29,411,258 (GRCm39) |
H181Q |
possibly damaging |
Het |
| Rpa2 |
T |
C |
4: 132,495,996 (GRCm39) |
F6L |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,575,472 (GRCm39) |
R4842L |
probably damaging |
Het |
| Scn11a |
G |
T |
9: 119,609,931 (GRCm39) |
C972* |
probably null |
Het |
| Setd2 |
C |
T |
9: 110,379,170 (GRCm39) |
T995I |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,247,789 (GRCm39) |
L471P |
probably damaging |
Het |
| Slc6a21 |
C |
G |
7: 44,932,371 (GRCm39) |
S350R |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,910,115 (GRCm39) |
N300S |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,679,435 (GRCm39) |
P634L |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,624,102 (GRCm39) |
A215V |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,097,545 (GRCm39) |
Y1676F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,622,023 (GRCm39) |
V381M |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,777,212 (GRCm39) |
F797L |
probably benign |
Het |
| Tas2r120 |
T |
G |
6: 132,634,564 (GRCm39) |
C215W |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,545,147 (GRCm39) |
D2388N |
probably damaging |
Het |
| Thsd4 |
C |
T |
9: 59,964,220 (GRCm39) |
S64N |
probably damaging |
Het |
| Thsd7b |
C |
T |
1: 129,686,347 (GRCm39) |
R630C |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,650,188 (GRCm39) |
I145T |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,569,995 (GRCm39) |
D171G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,215,046 (GRCm39) |
E343G |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,108,663 (GRCm39) |
D161G |
probably benign |
Het |
|
| Other mutations in Dscaml1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Dscaml1
|
APN |
9 |
45,581,498 (GRCm39) |
nonsense |
probably null |
|
|
IGL00497:Dscaml1
|
APN |
9 |
45,663,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00895:Dscaml1
|
APN |
9 |
45,662,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01011:Dscaml1
|
APN |
9 |
45,594,970 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01086:Dscaml1
|
APN |
9 |
45,613,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL01125:Dscaml1
|
APN |
9 |
45,660,930 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01132:Dscaml1
|
APN |
9 |
45,663,626 (GRCm39) |
nonsense |
probably null |
|
|
IGL01356:Dscaml1
|
APN |
9 |
45,658,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01459:Dscaml1
|
APN |
9 |
45,653,981 (GRCm39) |
nonsense |
probably null |
|
|
IGL01552:Dscaml1
|
APN |
9 |
45,359,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02033:Dscaml1
|
APN |
9 |
45,595,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02044:Dscaml1
|
APN |
9 |
45,658,241 (GRCm39) |
nonsense |
probably null |
|
|
IGL02095:Dscaml1
|
APN |
9 |
45,359,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Dscaml1
|
APN |
9 |
45,594,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02262:Dscaml1
|
APN |
9 |
45,643,378 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02262:Dscaml1
|
APN |
9 |
45,656,414 (GRCm39) |
missense |
probably benign |
|
|
IGL02340:Dscaml1
|
APN |
9 |
45,581,474 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02604:Dscaml1
|
APN |
9 |
45,655,626 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02619:Dscaml1
|
APN |
9 |
45,359,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02805:Dscaml1
|
APN |
9 |
45,359,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03409:Dscaml1
|
APN |
9 |
45,581,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D3080:Dscaml1
|
UTSW |
9 |
45,595,623 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03050:Dscaml1
|
UTSW |
9 |
45,654,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Dscaml1
|
UTSW |
9 |
45,653,978 (GRCm39) |
nonsense |
probably null |
|
|
R0582:Dscaml1
|
UTSW |
9 |
45,579,562 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0629:Dscaml1
|
UTSW |
9 |
45,632,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0632:Dscaml1
|
UTSW |
9 |
45,643,432 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0815:Dscaml1
|
UTSW |
9 |
45,656,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1162:Dscaml1
|
UTSW |
9 |
45,663,647 (GRCm39) |
splice site |
probably benign |
|
|
R1449:Dscaml1
|
UTSW |
9 |
45,653,521 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1474:Dscaml1
|
UTSW |
9 |
45,596,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Dscaml1
|
UTSW |
9 |
45,583,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1533:Dscaml1
|
UTSW |
9 |
45,361,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Dscaml1
|
UTSW |
9 |
45,660,738 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1572:Dscaml1
|
UTSW |
9 |
45,632,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1627:Dscaml1
|
UTSW |
9 |
45,664,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Dscaml1
|
UTSW |
9 |
45,584,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Dscaml1
|
UTSW |
9 |
45,663,988 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1777:Dscaml1
|
UTSW |
9 |
45,595,054 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1834:Dscaml1
|
UTSW |
9 |
45,594,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1907:Dscaml1
|
UTSW |
9 |
45,651,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Dscaml1
|
UTSW |
9 |
45,581,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2056:Dscaml1
|
UTSW |
9 |
45,661,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2193:Dscaml1
|
UTSW |
9 |
45,596,532 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2497:Dscaml1
|
UTSW |
9 |
45,656,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3768:Dscaml1
|
UTSW |
9 |
45,643,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3891:Dscaml1
|
UTSW |
9 |
45,628,782 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4110:Dscaml1
|
UTSW |
9 |
45,643,366 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4706:Dscaml1
|
UTSW |
9 |
45,361,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Dscaml1
|
UTSW |
9 |
45,361,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Dscaml1
|
UTSW |
9 |
45,583,993 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4770:Dscaml1
|
UTSW |
9 |
45,581,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Dscaml1
|
UTSW |
9 |
45,656,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5167:Dscaml1
|
UTSW |
9 |
45,628,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5346:Dscaml1
|
UTSW |
9 |
45,361,857 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5737:Dscaml1
|
UTSW |
9 |
45,656,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5977:Dscaml1
|
UTSW |
9 |
45,632,596 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6073:Dscaml1
|
UTSW |
9 |
45,361,881 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6276:Dscaml1
|
UTSW |
9 |
45,579,458 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6415:Dscaml1
|
UTSW |
9 |
45,594,975 (GRCm39) |
nonsense |
probably null |
|
|
R6527:Dscaml1
|
UTSW |
9 |
45,623,482 (GRCm39) |
nonsense |
probably null |
|
|
R6582:Dscaml1
|
UTSW |
9 |
45,664,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6655:Dscaml1
|
UTSW |
9 |
45,658,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6772:Dscaml1
|
UTSW |
9 |
45,621,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Dscaml1
|
UTSW |
9 |
45,361,881 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6892:Dscaml1
|
UTSW |
9 |
45,595,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6918:Dscaml1
|
UTSW |
9 |
45,341,805 (GRCm39) |
missense |
probably benign |
|
|
R6967:Dscaml1
|
UTSW |
9 |
45,585,821 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7214:Dscaml1
|
UTSW |
9 |
45,581,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7286:Dscaml1
|
UTSW |
9 |
45,654,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7315:Dscaml1
|
UTSW |
9 |
45,656,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7338:Dscaml1
|
UTSW |
9 |
45,585,802 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7343:Dscaml1
|
UTSW |
9 |
45,664,214 (GRCm39) |
missense |
probably benign |
|
|
R7395:Dscaml1
|
UTSW |
9 |
45,613,703 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7439:Dscaml1
|
UTSW |
9 |
45,621,624 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7484:Dscaml1
|
UTSW |
9 |
45,660,744 (GRCm39) |
splice site |
probably null |
|
|
R7545:Dscaml1
|
UTSW |
9 |
45,596,681 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7979:Dscaml1
|
UTSW |
9 |
45,595,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Dscaml1
|
UTSW |
9 |
45,628,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Dscaml1
|
UTSW |
9 |
45,658,140 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8262:Dscaml1
|
UTSW |
9 |
45,658,438 (GRCm39) |
intron |
probably benign |
|
|
R8428:Dscaml1
|
UTSW |
9 |
45,653,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8725:Dscaml1
|
UTSW |
9 |
45,341,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8727:Dscaml1
|
UTSW |
9 |
45,341,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8796:Dscaml1
|
UTSW |
9 |
45,359,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8840:Dscaml1
|
UTSW |
9 |
45,634,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9291:Dscaml1
|
UTSW |
9 |
45,359,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Dscaml1
|
UTSW |
9 |
45,661,354 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9610:Dscaml1
|
UTSW |
9 |
45,579,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9611:Dscaml1
|
UTSW |
9 |
45,579,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9653:Dscaml1
|
UTSW |
9 |
45,643,466 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9699:Dscaml1
|
UTSW |
9 |
45,654,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0058:Dscaml1
|
UTSW |
9 |
45,663,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Dscaml1
|
UTSW |
9 |
45,584,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGAAATCAGCCCACAGC -3'
(R):5'- CTTTAACAAATGTCCAGTGCACC -3'
Sequencing Primer
(F):5'- CACAGCACCCGGAACCG -3'
(R):5'- GGAGATCAAAATAGAATCCTTGACC -3'
|
| Genotyping |
R1812:Dscaml1 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
PCR Primers
R1812:Dscaml1(F): 5’- ATGTGAAATCAGCCCACAGC-3’
R1812:Dscaml1(R): 5’- CTTTAACAAATGTCCAGTGCACC-3’ Sequencing Primers
R1812:Dscaml1_seq(F): 5’- CACAGCACCCGGAACCG-3’
R1812:Dscaml1_seq(R): 5’- GGAGATCAAAATAGAATCCTTGACC-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C ∞ The following sequence of 412 nucleotides is amplified (Chr.9: 45751109-45751520, GRCm38; NC_000075): atgtgaaatc agcccacagc acccggaacc ggtactcaag ccaatggacc ttgaccaagt
gccaggcctc cacccctgcc cgaaccctca cctctgactg gcgcactgtg ggctcccagc
atggtgtcac cgtcactgag agtgacagct acagcgctag tctatcccaa gacacaggtg
tgtttaggga cctgcttgaa tcccatccat cctgccccaa gtcccctcat tgattgcccg
cctctagttt ttccagttcc tttctaacca gcctattgtc caacatctat accattttcc
ttcccagcta gctactgaca ctgtgtggct ggggttggga aggggtcaag gattctattt
tgatctccaa aaaaaaaata gaaaaaaatg gtgcactgga catttgttaa ag FASTA sequence Primer binding sites are underlined and the sequencing primer is highlighted; the mutated G is shown in red text.
|
| Posted On |
2014-06-23 |
Incidental Mutation