Incidental Mutation 'R1976:Cd101'
| ID |
221690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
039989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100915377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 730
(V730A)
|
| 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: V734A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: V734A
| 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: V730A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: V730A
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,815 (GRCm39) |
V3556A |
probably damaging |
Het |
| Abcb5 |
T |
C |
12: 118,854,417 (GRCm39) |
I833V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,217,861 (GRCm39) |
H432L |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,463 (GRCm39) |
I204F |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,262 (GRCm39) |
F486I |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,417,449 (GRCm39) |
L429Q |
possibly damaging |
Het |
| Ccdc33 |
A |
T |
9: 58,024,445 (GRCm39) |
Y227* |
probably null |
Het |
| Cdadc1 |
A |
T |
14: 59,811,217 (GRCm39) |
V431E |
probably damaging |
Het |
| Dazap1 |
T |
A |
10: 80,110,454 (GRCm39) |
|
probably null |
Het |
| Dbpht2 |
T |
A |
12: 74,342,635 (GRCm39) |
|
noncoding transcript |
Het |
| Dennd4b |
A |
T |
3: 90,180,362 (GRCm39) |
T742S |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,202 (GRCm39) |
E838G |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,045 (GRCm39) |
D1823E |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,906,233 (GRCm39) |
N556K |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,510,477 (GRCm39) |
I392M |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,388,238 (GRCm39) |
M831K |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
C |
7: 33,956,805 (GRCm39) |
N353K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,240,077 (GRCm39) |
936 |
probably benign |
Het |
| Gm4953 |
T |
A |
1: 158,995,923 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
T |
G |
8: 34,170,288 (GRCm39) |
|
probably null |
Het |
| Habp4 |
G |
T |
13: 64,332,420 (GRCm39) |
V344F |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,160,610 (GRCm39) |
D759G |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,722,733 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,705,857 (GRCm39) |
V387E |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,389 (GRCm39) |
V319A |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,716 (GRCm39) |
K348N |
possibly damaging |
Het |
| Lsamp |
T |
C |
16: 41,709,430 (GRCm39) |
V103A |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,026,195 (GRCm39) |
C538S |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,604,035 (GRCm39) |
S174P |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,099,926 (GRCm39) |
N607S |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,416,891 (GRCm39) |
S3279L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,289,995 (GRCm39) |
E211G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,165,311 (GRCm39) |
M649K |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,896,209 (GRCm39) |
V372A |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,859,668 (GRCm39) |
C288S |
probably benign |
Het |
| Rab23 |
T |
A |
1: 33,763,019 (GRCm39) |
C30S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,344 (GRCm39) |
T797A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,108 (GRCm39) |
D940G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,161,615 (GRCm39) |
E311G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,573 (GRCm39) |
I1598N |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,145,957 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Sprr3 |
T |
A |
3: 92,364,253 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,295 (GRCm39) |
V64D |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,424,336 (GRCm39) |
N483T |
possibly damaging |
Het |
| Trp53 |
C |
T |
11: 69,479,323 (GRCm39) |
T167M |
probably damaging |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,336,720 (GRCm39) |
L148P |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,509,527 (GRCm39) |
E44G |
possibly damaging |
Het |
| Usp40 |
T |
G |
1: 87,906,258 (GRCm39) |
Q659P |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,723 (GRCm39) |
C76R |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,925 (GRCm39) |
G660R |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,691 (GRCm39) |
H749L |
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 |
|
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'- CTGAGTTTCAATTCTGTGAGTCC -3'
(R):5'- AGCAAACTGAGCGTGAACTC -3'
Sequencing Primer
(F):5'- TCAATTCTGTGAGTCCTGAAGTC -3'
(R):5'- GTGAACTCAAGCAGTCAGGTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation