Incidental Mutation 'R6897:Cd101'
| ID |
538373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd101
|
| Ensembl Gene |
ENSMUSG00000086564 |
| Gene Name |
CD101 antigen |
| Synonyms |
LOC381460, Igsf2 |
| MMRRC Submission |
044991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100900845-100936872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100920376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 508
(S508P)
|
| 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: S512P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: S512P
| 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: S508P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: S508P
| 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 |
0.1372 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,534 (GRCm39) |
I28V |
possibly damaging |
Het |
| Adamts2 |
A |
T |
11: 50,627,991 (GRCm39) |
|
probably null |
Het |
| Adgrg1 |
T |
C |
8: 95,729,126 (GRCm39) |
F17L |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,539,789 (GRCm39) |
L183P |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,656,063 (GRCm39) |
C270R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,720,160 (GRCm39) |
|
probably null |
Het |
| Armc2 |
C |
A |
10: 41,869,225 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
G |
19: 58,030,800 (GRCm39) |
N1314S |
probably benign |
Het |
| Bbs7 |
T |
A |
3: 36,652,460 (GRCm39) |
E331V |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,285,225 (GRCm39) |
V258E |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,939,139 (GRCm39) |
I671F |
possibly damaging |
Het |
| Cd177 |
C |
T |
7: 24,444,499 (GRCm39) |
R694H |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,369,751 (GRCm39) |
Q386H |
possibly damaging |
Het |
| Cnrip1 |
A |
G |
11: 17,004,705 (GRCm39) |
Y85C |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,739,070 (GRCm39) |
F310I |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,984,562 (GRCm39) |
K186R |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 49,996,124 (GRCm39) |
Q417K |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,740,220 (GRCm39) |
D67G |
possibly damaging |
Het |
| Elovl4 |
T |
C |
9: 83,665,278 (GRCm39) |
I103V |
probably benign |
Het |
| Gabpa |
C |
G |
16: 84,657,361 (GRCm39) |
A412G |
probably benign |
Het |
| Gldn |
T |
A |
9: 54,242,158 (GRCm39) |
|
probably null |
Het |
| Ino80d |
A |
T |
1: 63,104,993 (GRCm39) |
I361N |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,796,073 (GRCm39) |
T1234M |
probably damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,028,026 (GRCm39) |
M367K |
probably benign |
Het |
| Klrd1 |
G |
A |
6: 129,570,468 (GRCm39) |
R8Q |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,758,942 (GRCm39) |
N969S |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,768,315 (GRCm39) |
D438G |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,039,840 (GRCm39) |
L684P |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,340,846 (GRCm39) |
M1010V |
probably benign |
Het |
| Magi3 |
C |
A |
3: 103,996,873 (GRCm39) |
R224I |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,380,573 (GRCm39) |
N277S |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,171,112 (GRCm39) |
H17R |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,749,878 (GRCm39) |
S265T |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,805,700 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,024 (GRCm39) |
T246I |
possibly damaging |
Het |
| Palb2 |
A |
G |
7: 121,726,270 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,385,951 (GRCm39) |
V940M |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,598,138 (GRCm39) |
K850E |
probably damaging |
Het |
| Pitx1 |
G |
A |
13: 55,976,335 (GRCm39) |
T108M |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
| Pomp |
T |
A |
5: 147,812,313 (GRCm39) |
M133K |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,423,913 (GRCm39) |
E993G |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,075 (GRCm39) |
|
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,007,917 (GRCm39) |
Q879H |
probably damaging |
Het |
| Rab26 |
G |
A |
17: 24,748,766 (GRCm39) |
T245I |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,592,514 (GRCm39) |
D502G |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,550,421 (GRCm39) |
D153E |
probably benign |
Het |
| Sez6 |
C |
G |
11: 77,844,385 (GRCm39) |
H69Q |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,893,095 (GRCm39) |
T391S |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,234,670 (GRCm39) |
V151A |
possibly damaging |
Het |
| Socs1 |
G |
T |
16: 10,602,266 (GRCm39) |
A157E |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,566,145 (GRCm39) |
Q110L |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,071,375 (GRCm39) |
V346L |
possibly damaging |
Het |
| Srgap1 |
T |
A |
10: 121,621,523 (GRCm39) |
H990L |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,892,809 (GRCm39) |
G36W |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,395,782 (GRCm39) |
E437G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,481,743 (GRCm39) |
L203P |
probably damaging |
Het |
| Tspoap1 |
A |
T |
11: 87,656,638 (GRCm39) |
K283M |
probably damaging |
Het |
| Ttyh1 |
C |
T |
7: 4,127,649 (GRCm39) |
|
probably benign |
Het |
| Ufd1 |
T |
A |
16: 18,645,850 (GRCm39) |
I254N |
probably benign |
Het |
| Ugdh |
T |
G |
5: 65,584,776 (GRCm39) |
T49P |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,434,810 (GRCm39) |
L447P |
probably damaging |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,445 (GRCm39) |
K43* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,306,015 (GRCm39) |
I521T |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,991,932 (GRCm39) |
T3470A |
probably benign |
Het |
| Wdhd1 |
T |
A |
14: 47,485,587 (GRCm39) |
K791N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,338,911 (GRCm39) |
D384G |
probably damaging |
Het |
| Zfp512b |
C |
T |
2: 181,232,273 (GRCm39) |
R86Q |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,880 (GRCm39) |
I275L |
probably benign |
Het |
| Zfp957 |
A |
T |
14: 79,451,344 (GRCm39) |
S152T |
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 |
|
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 |
|
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'- GCATGTCTCACGGTACACATG -3'
(R):5'- AGTCCACACCCGTGTTTGTG -3'
Sequencing Primer
(F):5'- ACTTGGGGTGCACATACCG -3'
(R):5'- CACCCGTGTTTGTGGCTGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation