Incidental Mutation 'R1551:Cd101'
| ID |
169900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
039590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1551 (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 100919329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 591
(H591R)
|
| 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: H595R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: H595R
| 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: H591R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: H591R
| 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: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 83.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,918,101 (GRCm39) |
I1534M |
probably benign |
Het |
| Acad11 |
G |
A |
9: 104,003,785 (GRCm39) |
A626T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,119,174 (GRCm39) |
N3560K |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,470 (GRCm39) |
V363I |
probably benign |
Het |
| Anks1b |
A |
G |
10: 89,912,843 (GRCm39) |
T289A |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,340 (GRCm39) |
N64S |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,282,072 (GRCm39) |
|
probably null |
Het |
| Cd36 |
C |
T |
5: 18,002,120 (GRCm39) |
V294I |
probably benign |
Het |
| Cfap47 |
C |
A |
X: 78,532,251 (GRCm39) |
L842F |
probably damaging |
Het |
| Cgref1 |
T |
C |
5: 31,090,929 (GRCm39) |
E295G |
probably benign |
Het |
| Cit |
A |
G |
5: 116,083,901 (GRCm39) |
M787V |
probably benign |
Het |
| Clcn6 |
G |
A |
4: 148,097,235 (GRCm39) |
P611S |
possibly damaging |
Het |
| Clec12a |
A |
C |
6: 129,327,384 (GRCm39) |
M1L |
probably damaging |
Het |
| Cmtm6 |
C |
T |
9: 114,575,573 (GRCm39) |
R161W |
probably damaging |
Het |
| Colec10 |
G |
T |
15: 54,325,658 (GRCm39) |
V163L |
probably damaging |
Het |
| Coq8b |
A |
G |
7: 26,956,907 (GRCm39) |
Y520C |
probably damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,948,821 (GRCm39) |
E45* |
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,669,975 (GRCm39) |
E663G |
possibly damaging |
Het |
| Dst |
G |
A |
1: 34,231,293 (GRCm39) |
R2962H |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fbxo36 |
T |
C |
1: 84,858,835 (GRCm39) |
I40T |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,597,383 (GRCm39) |
V568M |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,356,207 (GRCm39) |
Y883H |
possibly damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,589 (GRCm39) |
T199S |
possibly damaging |
Het |
| Gm12789 |
A |
G |
4: 101,846,131 (GRCm39) |
K131E |
probably benign |
Het |
| Gm17641 |
C |
A |
3: 68,777,448 (GRCm39) |
|
silent |
Het |
| Gm6665 |
G |
T |
18: 31,953,340 (GRCm39) |
R43S |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,203 (GRCm39) |
H98L |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,491,528 (GRCm39) |
E75V |
probably damaging |
Het |
| Herc2 |
G |
T |
7: 55,796,417 (GRCm39) |
V1930L |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htr6 |
A |
T |
4: 138,801,776 (GRCm39) |
C99* |
probably null |
Het |
| Lgals2 |
C |
T |
15: 78,736,511 (GRCm39) |
M16I |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,756,090 (GRCm39) |
N622D |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,383,791 (GRCm39) |
I1613F |
possibly damaging |
Het |
| Oacyl |
C |
T |
18: 65,875,280 (GRCm39) |
R455C |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,397 (GRCm39) |
Y132* |
probably null |
Het |
| Or5ac21 |
T |
A |
16: 59,123,766 (GRCm39) |
N84K |
probably benign |
Het |
| Or5bh3 |
T |
C |
X: 49,098,872 (GRCm39) |
T81A |
possibly damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,146 (GRCm39) |
|
probably null |
Het |
| Phf2 |
G |
C |
13: 48,985,579 (GRCm39) |
T67S |
unknown |
Het |
| Phf2 |
A |
G |
13: 48,957,079 (GRCm39) |
L1096P |
probably damaging |
Het |
| Pigt |
T |
C |
2: 164,349,323 (GRCm39) |
V542A |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,937,720 (GRCm39) |
F992L |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Pramel11 |
A |
G |
4: 143,622,263 (GRCm39) |
M364T |
probably benign |
Het |
| Prmt7 |
A |
G |
8: 106,964,014 (GRCm39) |
T303A |
probably benign |
Het |
| Prpf4b |
A |
T |
13: 35,078,426 (GRCm39) |
I679F |
possibly damaging |
Het |
| Psd4 |
T |
A |
2: 24,293,292 (GRCm39) |
M719K |
probably benign |
Het |
| Ranbp9 |
A |
T |
13: 43,578,593 (GRCm39) |
M160K |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,434,706 (GRCm39) |
Y687H |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,883,423 (GRCm39) |
K119R |
probably damaging |
Het |
| Rnf113a1 |
T |
C |
X: 36,455,046 (GRCm39) |
M1T |
probably null |
Het |
| Rnf40 |
A |
C |
7: 127,195,506 (GRCm39) |
K511Q |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,800,029 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
T |
15: 75,937,011 (GRCm39) |
V365E |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,379,443 (GRCm39) |
V575A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,067,732 (GRCm39) |
N2053S |
possibly damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,790,511 (GRCm39) |
|
probably null |
Het |
| Stab1 |
G |
T |
14: 30,882,456 (GRCm39) |
N460K |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,992,787 (GRCm39) |
C964S |
probably benign |
Het |
| Tmed11 |
A |
G |
5: 108,927,680 (GRCm39) |
|
probably null |
Het |
| Tmem191 |
C |
A |
16: 17,095,984 (GRCm39) |
R285S |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,312,552 (GRCm39) |
S1917P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,892,440 (GRCm39) |
H357L |
probably benign |
Het |
| Vmn1r229 |
A |
G |
17: 21,035,051 (GRCm39) |
T99A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,283 (GRCm39) |
S97P |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 132,917,483 (GRCm39) |
R194L |
unknown |
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 |
|
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'- TGCTCACTTTACCAGGACAAACGTG -3'
(R):5'- GAGTTAATCTGATGAGCCGTCAGCC -3'
Sequencing Primer
(F):5'- ctgacctcaaattctcaattctcc -3'
(R):5'- CGTCAGCCACAAGTGATGC -3'
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| Posted On |
2014-04-13 |
Incidental Mutation