Incidental Mutation 'R1547:Cd101'
ID |
172250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd101
|
Ensembl Gene |
ENSMUSG00000086564 |
Gene Name |
CD101 antigen |
Synonyms |
LOC381460, Igsf2 |
MMRRC Submission |
039586-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1547 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100926267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 151
(T151A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147399]
[ENSMUST00000167086]
|
AlphaFold |
A8E0Y8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147399
AA Change: T155A
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000116643 Gene: ENSMUSG00000086564 AA Change: T155A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
28 |
143 |
4.96e-8 |
SMART |
IG
|
153 |
266 |
4.74e-5 |
SMART |
IG_like
|
274 |
379 |
2.19e-1 |
SMART |
IG
|
289 |
395 |
3.25e-3 |
SMART |
IG
|
417 |
533 |
4.85e-11 |
SMART |
IG
|
545 |
659 |
1.52e-3 |
SMART |
IG
|
680 |
805 |
3.16e-1 |
SMART |
IG_like
|
827 |
927 |
2.95e-1 |
SMART |
IG
|
856 |
955 |
1.04e-1 |
SMART |
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167086
AA Change: T151A
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126027 Gene: ENSMUSG00000086564 AA Change: T151A
Domain | Start | End | E-Value | Type |
IG
|
24 |
139 |
4.96e-8 |
SMART |
IG
|
149 |
262 |
4.74e-5 |
SMART |
IG_like
|
270 |
375 |
2.19e-1 |
SMART |
IG
|
285 |
391 |
3.25e-3 |
SMART |
IG
|
413 |
529 |
4.85e-11 |
SMART |
IG
|
541 |
655 |
1.52e-3 |
SMART |
IG
|
676 |
801 |
3.16e-1 |
SMART |
IG_like
|
823 |
923 |
2.95e-1 |
SMART |
IG
|
852 |
951 |
1.04e-1 |
SMART |
transmembrane domain
|
967 |
989 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Gr-1+ cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
C |
12: 21,403,958 (GRCm39) |
V96G |
probably damaging |
Het |
Adam5 |
G |
T |
8: 25,300,729 (GRCm39) |
Q267K |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,581,383 (GRCm39) |
T833A |
probably benign |
Het |
Ago4 |
C |
T |
4: 126,405,206 (GRCm39) |
E456K |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,459,476 (GRCm39) |
Q1861R |
probably benign |
Het |
Apob |
A |
T |
12: 8,053,368 (GRCm39) |
D1270V |
probably benign |
Het |
Arb2a |
T |
C |
13: 77,973,509 (GRCm39) |
|
probably null |
Het |
Arhgef11 |
T |
A |
3: 87,602,709 (GRCm39) |
I196N |
possibly damaging |
Het |
Armh4 |
A |
T |
14: 50,010,953 (GRCm39) |
D251E |
probably benign |
Het |
Capzb |
G |
A |
4: 138,989,409 (GRCm39) |
|
probably null |
Het |
Ccdc183 |
T |
A |
2: 25,499,362 (GRCm39) |
T466S |
probably benign |
Het |
Cdc42bpa |
A |
T |
1: 179,902,209 (GRCm39) |
I489F |
probably damaging |
Het |
Cetn4 |
T |
C |
3: 37,363,600 (GRCm39) |
K52R |
possibly damaging |
Het |
Dock6 |
C |
T |
9: 21,725,884 (GRCm39) |
E1440K |
probably damaging |
Het |
Edem2 |
A |
G |
2: 155,564,436 (GRCm39) |
F94L |
probably damaging |
Het |
Elp1 |
C |
A |
4: 56,792,090 (GRCm39) |
R226L |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,798,810 (GRCm39) |
V51M |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,957,065 (GRCm39) |
D315G |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,143,081 (GRCm39) |
P4256L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Kif19a |
A |
G |
11: 114,677,398 (GRCm39) |
E594G |
probably benign |
Het |
Kifap3 |
A |
G |
1: 163,621,655 (GRCm39) |
D101G |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,784,832 (GRCm39) |
D102G |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,359,824 (GRCm39) |
H388R |
probably benign |
Het |
Lmna |
T |
C |
3: 88,389,658 (GRCm39) |
S656G |
probably benign |
Het |
Map3k12 |
T |
A |
15: 102,412,287 (GRCm39) |
I285F |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 31,991,796 (GRCm39) |
I345V |
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,672,702 (GRCm39) |
R111G |
possibly damaging |
Het |
Mfsd6l |
T |
A |
11: 68,447,434 (GRCm39) |
V95D |
probably damaging |
Het |
Mogs |
T |
A |
6: 83,093,006 (GRCm39) |
M118K |
possibly damaging |
Het |
Npy5r |
T |
C |
8: 67,133,686 (GRCm39) |
E369G |
possibly damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,889 (GRCm39) |
F52L |
probably damaging |
Het |
Or10j3 |
T |
A |
1: 173,031,239 (GRCm39) |
Y105* |
probably null |
Het |
Or2t49 |
A |
G |
11: 58,392,651 (GRCm39) |
S244P |
probably damaging |
Het |
Or8b12b |
A |
C |
9: 37,683,960 (GRCm39) |
T2P |
probably benign |
Het |
Pde7b |
C |
A |
10: 20,310,340 (GRCm39) |
L207F |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,020,689 (GRCm39) |
V751A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,381 (GRCm39) |
Y1923C |
probably benign |
Het |
Prokr2 |
T |
C |
2: 132,215,522 (GRCm39) |
Y152C |
probably damaging |
Het |
Rab40c |
A |
G |
17: 26,102,724 (GRCm39) |
S223P |
probably damaging |
Het |
Recql4 |
A |
C |
15: 76,590,511 (GRCm39) |
C658G |
probably damaging |
Het |
Sgca |
T |
C |
11: 94,860,259 (GRCm39) |
T46A |
probably damaging |
Het |
Slc39a4 |
G |
T |
15: 76,498,347 (GRCm39) |
C363* |
probably null |
Het |
Snap25 |
A |
T |
2: 136,619,389 (GRCm39) |
I181F |
possibly damaging |
Het |
Snx32 |
T |
A |
19: 5,547,339 (GRCm39) |
Q256L |
possibly damaging |
Het |
Soat1 |
A |
G |
1: 156,267,331 (GRCm39) |
V284A |
probably damaging |
Het |
Sox6 |
G |
A |
7: 115,300,957 (GRCm39) |
T170M |
possibly damaging |
Het |
Spag16 |
G |
T |
1: 69,912,402 (GRCm39) |
V246F |
possibly damaging |
Het |
St6galnac6 |
T |
C |
2: 32,504,977 (GRCm39) |
V141A |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,211,047 (GRCm39) |
|
probably null |
Het |
Syngr3 |
A |
T |
17: 24,906,698 (GRCm39) |
V39E |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,508,418 (GRCm39) |
T917A |
probably damaging |
Het |
Tas1r1 |
A |
G |
4: 152,112,876 (GRCm39) |
S726P |
probably damaging |
Het |
Zeb1 |
C |
T |
18: 5,767,450 (GRCm39) |
R654C |
possibly damaging |
Het |
|
Other mutations in Cd101 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00958:Cd101
|
APN |
3 |
100,911,018 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01443:Cd101
|
APN |
3 |
100,910,887 (GRCm39) |
missense |
probably benign |
|
IGL02000:Cd101
|
APN |
3 |
100,919,398 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02178:Cd101
|
APN |
3 |
100,901,082 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02224:Cd101
|
APN |
3 |
100,924,318 (GRCm39) |
missense |
probably benign |
|
IGL02450:Cd101
|
APN |
3 |
100,901,054 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02502:Cd101
|
APN |
3 |
100,919,141 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02536:Cd101
|
APN |
3 |
100,910,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02749:Cd101
|
APN |
3 |
100,927,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02818:Cd101
|
APN |
3 |
100,919,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02829:Cd101
|
APN |
3 |
100,925,881 (GRCm39) |
splice site |
probably benign |
|
IGL02902:Cd101
|
APN |
3 |
100,926,310 (GRCm39) |
splice site |
probably benign |
|
tax_day
|
UTSW |
3 |
100,911,021 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0069:Cd101
|
UTSW |
3 |
100,915,533 (GRCm39) |
missense |
probably benign |
0.08 |
R0069:Cd101
|
UTSW |
3 |
100,915,533 (GRCm39) |
missense |
probably benign |
0.08 |
R0411:Cd101
|
UTSW |
3 |
100,925,843 (GRCm39) |
splice site |
probably null |
|
R0486:Cd101
|
UTSW |
3 |
100,915,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0556:Cd101
|
UTSW |
3 |
100,927,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R0726:Cd101
|
UTSW |
3 |
100,927,938 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0966:Cd101
|
UTSW |
3 |
100,915,538 (GRCm39) |
missense |
probably benign |
0.13 |
R1344:Cd101
|
UTSW |
3 |
100,926,091 (GRCm39) |
nonsense |
probably null |
|
R1418:Cd101
|
UTSW |
3 |
100,926,091 (GRCm39) |
nonsense |
probably null |
|
R1551:Cd101
|
UTSW |
3 |
100,919,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R1845:Cd101
|
UTSW |
3 |
100,936,764 (GRCm39) |
splice site |
probably null |
|
R1919:Cd101
|
UTSW |
3 |
100,926,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1976:Cd101
|
UTSW |
3 |
100,915,377 (GRCm39) |
missense |
probably damaging |
0.96 |
R2260:Cd101
|
UTSW |
3 |
100,924,261 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2679:Cd101
|
UTSW |
3 |
100,901,079 (GRCm39) |
missense |
probably benign |
0.00 |
R2873:Cd101
|
UTSW |
3 |
100,911,164 (GRCm39) |
missense |
probably benign |
0.00 |
R3606:Cd101
|
UTSW |
3 |
100,927,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4201:Cd101
|
UTSW |
3 |
100,926,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R4202:Cd101
|
UTSW |
3 |
100,926,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R4205:Cd101
|
UTSW |
3 |
100,926,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Cd101
|
UTSW |
3 |
100,920,630 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4574:Cd101
|
UTSW |
3 |
100,920,469 (GRCm39) |
missense |
probably benign |
0.02 |
R4601:Cd101
|
UTSW |
3 |
100,901,204 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4820:Cd101
|
UTSW |
3 |
100,929,471 (GRCm39) |
missense |
probably benign |
0.01 |
R4910:Cd101
|
UTSW |
3 |
100,901,205 (GRCm39) |
missense |
probably benign |
0.13 |
R5014:Cd101
|
UTSW |
3 |
100,911,139 (GRCm39) |
missense |
probably damaging |
0.99 |
R5081:Cd101
|
UTSW |
3 |
100,911,021 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5396:Cd101
|
UTSW |
3 |
100,926,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R5425:Cd101
|
UTSW |
3 |
100,926,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Cd101
|
UTSW |
3 |
100,927,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Cd101
|
UTSW |
3 |
100,925,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R6732:Cd101
|
UTSW |
3 |
100,915,515 (GRCm39) |
missense |
probably benign |
0.01 |
R6830:Cd101
|
UTSW |
3 |
100,901,012 (GRCm39) |
missense |
probably benign |
0.12 |
R6897:Cd101
|
UTSW |
3 |
100,920,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R6940:Cd101
|
UTSW |
3 |
100,911,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R7335:Cd101
|
UTSW |
3 |
100,926,045 (GRCm39) |
missense |
probably benign |
0.01 |
R7565:Cd101
|
UTSW |
3 |
100,926,108 (GRCm39) |
missense |
probably benign |
0.00 |
R7880:Cd101
|
UTSW |
3 |
100,915,182 (GRCm39) |
missense |
probably benign |
0.00 |
R8121:Cd101
|
UTSW |
3 |
100,927,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R8233:Cd101
|
UTSW |
3 |
100,900,989 (GRCm39) |
missense |
unknown |
|
R8900:Cd101
|
UTSW |
3 |
100,926,062 (GRCm39) |
missense |
probably benign |
0.19 |
R8960:Cd101
|
UTSW |
3 |
100,910,817 (GRCm39) |
missense |
probably benign |
0.01 |
R9260:Cd101
|
UTSW |
3 |
100,920,599 (GRCm39) |
missense |
probably benign |
0.16 |
R9335:Cd101
|
UTSW |
3 |
100,915,431 (GRCm39) |
missense |
probably benign |
0.18 |
R9663:Cd101
|
UTSW |
3 |
100,911,222 (GRCm39) |
missense |
probably benign |
0.21 |
X0018:Cd101
|
UTSW |
3 |
100,925,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0023:Cd101
|
UTSW |
3 |
100,926,171 (GRCm39) |
missense |
probably benign |
|
X0058:Cd101
|
UTSW |
3 |
100,927,737 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cd101
|
UTSW |
3 |
100,924,456 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Cd101
|
UTSW |
3 |
100,919,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTTGTCCAGCCGTACATCACC -3'
(R):5'- GAGCCACTCACTCTGCAAAGTTCC -3'
Sequencing Primer
(F):5'- ACAAACCTGTCTGCATAGGAG -3'
(R):5'- GTTCCTATGCTCTCTCAGCAAAAAG -3'
|
Posted On |
2014-04-13 |