Incidental Mutation 'R8900:Cd101'
| ID |
679890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
068757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100926062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 219
(R219L)
|
| 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: R223L
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: R223L
| 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: R219L
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: R219L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,045,218 (GRCm39) |
T372A |
probably benign |
Het |
| Adamts8 |
C |
A |
9: 30,865,930 (GRCm39) |
R493S |
probably benign |
Het |
| Ankrd33b |
G |
A |
15: 31,297,830 (GRCm39) |
T309I |
probably damaging |
Het |
| Arhgap22 |
G |
A |
14: 32,993,880 (GRCm39) |
W58* |
probably null |
Het |
| B4galt4 |
C |
T |
16: 38,572,404 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,311 (GRCm39) |
I70L |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,977,942 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cand2 |
C |
T |
6: 115,757,894 (GRCm39) |
T52M |
probably benign |
Het |
| Cd5l |
T |
A |
3: 87,274,882 (GRCm39) |
D140E |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,904,197 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,906 (GRCm39) |
M355V |
possibly damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Clec4a4 |
A |
G |
6: 123,000,875 (GRCm39) |
E196G |
probably damaging |
Het |
| Cpxm1 |
T |
A |
2: 130,235,360 (GRCm39) |
D544V |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,447,245 (GRCm39) |
D535E |
probably benign |
Het |
| Daw1 |
T |
G |
1: 83,175,898 (GRCm39) |
L212R |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,135,445 (GRCm39) |
T443S |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,817,940 (GRCm39) |
D1627G |
probably damaging |
Het |
| Dohh |
A |
G |
10: 81,223,735 (GRCm39) |
I263V |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Dus4l |
G |
T |
12: 31,690,692 (GRCm39) |
L320I |
possibly damaging |
Het |
| Edc4 |
A |
C |
8: 106,617,857 (GRCm39) |
Q1139P |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,549,228 (GRCm39) |
C213* |
probably null |
Het |
| Fgf14 |
A |
T |
14: 124,221,326 (GRCm39) |
Y159* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,019,632 (GRCm39) |
D749V |
unknown |
Het |
| Hip1 |
T |
C |
5: 135,459,144 (GRCm39) |
T203A |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,014 (GRCm39) |
D35G |
possibly damaging |
Het |
| Itga4 |
T |
A |
2: 79,145,332 (GRCm39) |
I716K |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
| Ndufb3 |
T |
C |
1: 58,634,824 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,665,023 (GRCm39) |
H399R |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,601 (GRCm39) |
S191P |
probably damaging |
Het |
| Or13c7e-ps1 |
G |
T |
4: 43,781,432 (GRCm39) |
S299R |
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,180,413 (GRCm39) |
S314P |
probably damaging |
Het |
| Pcdha11 |
T |
G |
18: 37,145,799 (GRCm39) |
I630S |
probably damaging |
Het |
| Pfkl |
C |
G |
10: 77,836,615 (GRCm39) |
G134A |
probably damaging |
Het |
| Phf19 |
A |
T |
2: 34,795,484 (GRCm39) |
C196S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,096 (GRCm39) |
K468R |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,310,078 (GRCm39) |
S79G |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,384 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,838,778 (GRCm39) |
E33D |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,705,493 (GRCm39) |
I174F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,016,882 (GRCm39) |
V549A |
possibly damaging |
Het |
| Rnf31 |
T |
G |
14: 55,833,689 (GRCm39) |
C566G |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,478 (GRCm39) |
W796* |
probably null |
Het |
| Sdc1 |
C |
T |
12: 8,840,460 (GRCm39) |
T79I |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,424,182 (GRCm39) |
E242A |
probably damaging |
Het |
| Slc22a30 |
A |
C |
19: 8,315,340 (GRCm39) |
M430R |
probably damaging |
Het |
| Sp9 |
C |
A |
2: 73,103,863 (GRCm39) |
T139K |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,327 (GRCm39) |
D29G |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,697,761 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,689,437 (GRCm39) |
I2050N |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,460,603 (GRCm39) |
F531I |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,855,884 (GRCm39) |
I539F |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,859,956 (GRCm39) |
D666G |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,842 (GRCm39) |
S253P |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,261,924 (GRCm39) |
I402T |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,511,619 (GRCm39) |
Y609H |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,863 (GRCm39) |
M245L |
probably benign |
Het |
| Vmn2r42 |
C |
T |
7: 8,197,792 (GRCm39) |
E276K |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,838,287 (GRCm39) |
N65K |
probably damaging |
Het |
| Zbtb47 |
A |
C |
9: 121,596,705 (GRCm39) |
K687T |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,463,924 (GRCm39) |
S1361P |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,558,708 (GRCm39) |
C396* |
probably null |
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 |
|
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 |
|
|
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'- CTGAGAAGATAATTACCTGCCGG -3'
(R):5'- CTCCCAGACGCTCAGTAAGAAG -3'
Sequencing Primer
(F):5'- AGATAATTACCTGCCGGCTGGATC -3'
(R):5'- TGAGCCCTTGGAACTCACCTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation