Incidental Mutation 'R6830:Cd101'
| ID |
534335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
044940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100901012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1020
(K1020R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147399]
[ENSMUST00000167086]
|
| AlphaFold |
A8E0Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147399
AA Change: K1024R
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: K1024R
| 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 |
probably benign
Transcript: ENSMUST00000167086
AA Change: K1020R
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: K1020R
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
C |
3: 146,356,716 (GRCm39) |
D64G |
possibly damaging |
Het |
| Amtn |
T |
C |
5: 88,525,956 (GRCm39) |
L40P |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,792,342 (GRCm39) |
R90G |
probably damaging |
Het |
| Arfgef3 |
A |
C |
10: 18,540,637 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
C |
T |
18: 22,658,445 (GRCm39) |
P2152S |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,512,381 (GRCm39) |
V494E |
probably damaging |
Het |
| Bik |
T |
A |
15: 83,428,409 (GRCm39) |
Y146N |
probably benign |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,436 (GRCm39) |
I12F |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,095,890 (GRCm39) |
V1736A |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,833,636 (GRCm39) |
E231G |
probably damaging |
Het |
| Cdh6 |
C |
A |
15: 13,044,860 (GRCm39) |
V421L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,205,668 (GRCm39) |
S135P |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,924,355 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,759,452 (GRCm39) |
F546L |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,966 (GRCm39) |
M3206K |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,952,332 (GRCm39) |
D179G |
probably benign |
Het |
| Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,664,832 (GRCm39) |
S285R |
probably benign |
Het |
| Htt |
T |
A |
5: 34,991,670 (GRCm39) |
Y1212N |
possibly damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,745 (GRCm39) |
K159R |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,199 (GRCm39) |
I80F |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,294,602 (GRCm39) |
N89K |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,769,775 (GRCm39) |
R173C |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,903,935 (GRCm39) |
F26L |
probably benign |
Het |
| Neil3 |
G |
T |
8: 54,052,514 (GRCm39) |
N361K |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,551,720 (GRCm39) |
R193G |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,447 (GRCm39) |
I198N |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,731,113 (GRCm39) |
Q3205L |
unknown |
Het |
| Plekhm1 |
A |
T |
11: 103,267,715 (GRCm39) |
I752N |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,878,614 (GRCm39) |
T273A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,973,597 (GRCm39) |
M235K |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,999,993 (GRCm39) |
|
probably null |
Het |
| Reg2 |
A |
G |
6: 78,384,625 (GRCm39) |
H119R |
possibly damaging |
Het |
| Rpe65 |
T |
C |
3: 159,319,805 (GRCm39) |
V225A |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Slc25a23 |
G |
A |
17: 57,360,804 (GRCm39) |
R9* |
probably null |
Het |
| Snai3 |
A |
G |
8: 123,183,212 (GRCm39) |
L111P |
probably damaging |
Het |
| Stk38 |
A |
G |
17: 29,218,981 (GRCm39) |
|
probably null |
Het |
| Stk38l |
A |
T |
6: 146,668,269 (GRCm39) |
I115F |
possibly damaging |
Het |
| Tmco6 |
T |
A |
18: 36,871,406 (GRCm39) |
|
probably null |
Het |
| Tollip |
A |
T |
7: 141,452,451 (GRCm39) |
M1K |
probably null |
Het |
| Trim40 |
T |
C |
17: 37,199,742 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,163,550 (GRCm39) |
Y719* |
probably null |
Het |
| Ubald1 |
T |
C |
16: 4,697,584 (GRCm39) |
D6G |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,171 (GRCm39) |
S476R |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,753,161 (GRCm39) |
G402D |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,911 (GRCm39) |
Y201C |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,770,028 (GRCm39) |
H62L |
probably 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 |
|
|
R1547:Cd101
|
UTSW |
3 |
100,926,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- TGGTTGCTACACAAAGAAACAC -3'
(R):5'- CGATCGTTGGGACACTGATTG -3'
Sequencing Primer
(F):5'- GAAACACTCGACAAGATATGGTTAAC -3'
(R):5'- TCTCTGGTTGCAGAGCCCAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation