Incidental Mutation 'R0556:Cd101'
| ID |
45548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
038748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0556 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 100927970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 37
(I37S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147399]
[ENSMUST00000167086]
|
| AlphaFold |
A8E0Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147399
AA Change: I41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: I41S
| 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 damaging
Transcript: ENSMUST00000167086
AA Change: I37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: I37S
| 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 |
0.4896 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
98% (64/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
A |
17: 15,164,213 (GRCm39) |
Y113* |
probably null |
Het |
| 4930402F06Rik |
T |
C |
2: 35,280,482 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,992,501 (GRCm39) |
E481G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,611,842 (GRCm39) |
N389Y |
probably damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,854,487 (GRCm39) |
T112M |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,390,140 (GRCm39) |
Y227H |
probably damaging |
Het |
| Cab39 |
A |
G |
1: 85,763,212 (GRCm39) |
|
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,563 (GRCm39) |
T191S |
probably damaging |
Het |
| Ccno |
T |
C |
13: 113,124,820 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,610,270 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
T |
C |
8: 93,771,740 (GRCm39) |
H19R |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,456,649 (GRCm39) |
|
probably null |
Het |
| Cntnap1 |
T |
C |
11: 101,074,822 (GRCm39) |
F831S |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,020,489 (GRCm39) |
T287A |
possibly damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,347,564 (GRCm39) |
|
probably benign |
Het |
| Cpd |
A |
G |
11: 76,693,171 (GRCm39) |
|
probably benign |
Het |
| Cyp3a16 |
C |
A |
5: 145,392,790 (GRCm39) |
M145I |
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,757,719 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,426 (GRCm39) |
L1925Q |
probably damaging |
Het |
| Eif4g1 |
A |
T |
16: 20,494,544 (GRCm39) |
Y127F |
probably damaging |
Het |
| Erap1 |
T |
A |
13: 74,808,444 (GRCm39) |
V52E |
probably damaging |
Het |
| Fbxo6 |
G |
T |
4: 148,230,632 (GRCm39) |
T210N |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,858,803 (GRCm39) |
H2308Y |
probably benign |
Het |
| Garre1 |
T |
C |
7: 33,939,222 (GRCm39) |
T222A |
probably damaging |
Het |
| Gnat3 |
T |
G |
5: 18,224,596 (GRCm39) |
V332G |
probably damaging |
Het |
| Ift22 |
T |
A |
5: 136,940,145 (GRCm39) |
|
probably null |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,171 (GRCm39) |
C109R |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,296 (GRCm39) |
L1295P |
probably benign |
Het |
| Itga4 |
T |
C |
2: 79,155,983 (GRCm39) |
I983T |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,079,491 (GRCm39) |
V65D |
probably damaging |
Het |
| Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,809 (GRCm39) |
|
probably null |
Het |
| Morc2b |
A |
T |
17: 33,356,812 (GRCm39) |
M320K |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,991,065 (GRCm39) |
V10F |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,553,837 (GRCm39) |
E812G |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,457,852 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,381 (GRCm39) |
S171P |
probably benign |
Het |
| Or4a66 |
A |
C |
2: 88,531,115 (GRCm39) |
V186G |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,041 (GRCm39) |
D19V |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,968,632 (GRCm39) |
T353M |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,942,313 (GRCm39) |
|
probably null |
Het |
| Ppp1r12b |
T |
A |
1: 134,705,060 (GRCm39) |
Y876F |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 42,084,245 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,680,093 (GRCm39) |
L1887P |
unknown |
Het |
| Ptk2b |
A |
G |
14: 66,409,593 (GRCm39) |
L481P |
probably damaging |
Het |
| Rgl3 |
T |
A |
9: 21,887,140 (GRCm39) |
K531* |
probably null |
Het |
| Sacs |
A |
G |
14: 61,421,407 (GRCm39) |
I115V |
probably damaging |
Het |
| Septin3 |
G |
T |
15: 82,167,966 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,673,160 (GRCm39) |
S503P |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,404 (GRCm39) |
V1887A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,088,230 (GRCm39) |
L1427* |
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,793 (GRCm39) |
D111G |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,801,716 (GRCm39) |
N340S |
probably damaging |
Het |
| Tmco2 |
A |
G |
4: 120,966,314 (GRCm39) |
L14P |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,679,367 (GRCm39) |
D746V |
possibly damaging |
Het |
| Trip11 |
C |
A |
12: 101,850,777 (GRCm39) |
E811* |
probably null |
Het |
| Ttll9 |
T |
C |
2: 152,815,526 (GRCm39) |
|
probably null |
Het |
| Uchl1 |
A |
G |
5: 66,839,824 (GRCm39) |
E122G |
probably benign |
Het |
| Vwa3b |
C |
A |
1: 37,203,566 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,452,482 (GRCm39) |
N1533S |
unknown |
Het |
| Zfp687 |
G |
T |
3: 94,917,719 (GRCm39) |
D684E |
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 |
|
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 |
|
|
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'- TTTGCACCCTCTGGGCATACAC -3'
(R):5'- AACGATGACCTCACTGAGCCATTC -3'
Sequencing Primer
(F):5'- TCTGGGCATACACTGCGTAAG -3'
(R):5'- GGTTACAGTGAATAACCTTCGGTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation