Incidental Mutation 'R4574:Cd101'
| ID |
342321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
041797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100920469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 477
(N477D)
|
| 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: N481D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: N481D
| 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: N477D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: N477D
| 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 |
0.0633 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (63/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Adamts9 |
G |
A |
6: 92,856,940 (GRCm39) |
R319* |
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,469,115 (GRCm39) |
S1575R |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,764 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
C |
T |
3: 103,081,666 (GRCm39) |
P90S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,111,814 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,290,804 (GRCm39) |
E634G |
probably benign |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cpt1b |
G |
T |
15: 89,308,247 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
G |
7: 127,318,556 (GRCm39) |
T148P |
possibly damaging |
Het |
| Ddx23 |
G |
A |
15: 98,545,505 (GRCm39) |
T601I |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,865,305 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,265 (GRCm39) |
N183K |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 117,975,990 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
C |
T |
15: 28,367,909 (GRCm39) |
P2765S |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,403,359 (GRCm39) |
M1L |
probably damaging |
Het |
| Gm4841 |
T |
C |
18: 60,402,998 (GRCm39) |
N365S |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,872 (GRCm39) |
|
probably null |
Het |
| Irx5 |
G |
A |
8: 93,084,890 (GRCm39) |
V27I |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,697,405 (GRCm39) |
V101D |
possibly damaging |
Het |
| Maip1 |
A |
C |
1: 57,452,404 (GRCm39) |
K219Q |
possibly damaging |
Het |
| Mpp7 |
G |
T |
18: 7,353,228 (GRCm39) |
R493S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,281,335 (GRCm39) |
T408A |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,127,998 (GRCm39) |
N117S |
possibly damaging |
Het |
| Mtres1 |
T |
A |
10: 43,409,006 (GRCm39) |
S46C |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,176,893 (GRCm39) |
I613V |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,860 (GRCm39) |
Q44R |
probably benign |
Het |
| Nup54 |
T |
A |
5: 92,573,641 (GRCm39) |
N187I |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or5ak22 |
C |
A |
2: 85,230,370 (GRCm39) |
C169F |
probably damaging |
Het |
| Pate2 |
C |
A |
9: 35,596,969 (GRCm39) |
|
probably benign |
Het |
| Pccb |
T |
C |
9: 100,867,252 (GRCm39) |
S445G |
probably damaging |
Het |
| Pex3 |
G |
A |
10: 13,411,315 (GRCm39) |
Q188* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,231,351 (GRCm39) |
W74R |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,874 (GRCm39) |
S628P |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,669 (GRCm39) |
H346R |
probably benign |
Het |
| Pom121l2 |
T |
A |
13: 22,168,572 (GRCm39) |
C948S |
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,999,404 (GRCm39) |
M284K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,277,919 (GRCm39) |
L414S |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,016,583 (GRCm39) |
K53N |
probably damaging |
Het |
| Rorc |
T |
C |
3: 94,296,291 (GRCm39) |
S163P |
probably benign |
Het |
| Rpl3l |
A |
C |
17: 24,952,984 (GRCm39) |
T315P |
possibly damaging |
Het |
| Rsph3b |
A |
G |
17: 7,172,438 (GRCm39) |
V487A |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,416,080 (GRCm39) |
E462G |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,576,344 (GRCm39) |
T838A |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,008,561 (GRCm39) |
Y236H |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,442,457 (GRCm39) |
R1984H |
probably damaging |
Het |
| Steap3 |
G |
T |
1: 120,169,186 (GRCm39) |
D370E |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,085,393 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
T |
C |
17: 25,320,647 (GRCm39) |
E754G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,353 (GRCm39) |
F604L |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,131 (GRCm39) |
D1734E |
probably benign |
Het |
| Tsfm |
A |
C |
10: 126,864,242 (GRCm39) |
Y158D |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,197,591 (GRCm39) |
|
probably benign |
Het |
| Upk3a |
G |
T |
15: 84,904,752 (GRCm39) |
V167F |
possibly damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,939 (GRCm39) |
S327L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,858,965 (GRCm39) |
I2805N |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,673,534 (GRCm39) |
D166G |
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 |
|
|
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 |
|
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'- AGGACTTTTCCCAGTGACTTAC -3'
(R):5'- CAAGAAGTGTGACCGTGTCTGC -3'
Sequencing Primer
(F):5'- CCCAGTGACTTACTCAGAGATTTTAC -3'
(R):5'- CGAGCAGCGTACTGTGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation